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AGING - ENVEJECIMIENTO

TÍTULO / TITLE:    - The LonDownS adult cognitive assessment to study cognitive abilities and decline in Down syndrome.

REVISTA / JOURNAL:    - Wellcome Open Res. 2016 Nov 15;1:11. doi: 10.12688/wellcomeopenres.9961.1.

Enlace a la Editora de la Revista http://dx.doi.org/10.12688/wellcomeopenres.9961.1

AUTORES / AUTHORS: - Startin CM; Strydom A; et al.

INSTITUCIÓN / INSTITUTION: - UCL Division of Psychiatry, University College London, London, UK; The LonDownS Consortium, University College London, London, UK.  

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk of developing Alzheimer’s disease. However, there is individual variability in the onset of clinical dementia and in baseline cognitive abilities prior to decline, particularly in memory, executive functioning, and motor coordination. The LonDownS Consortium aims to determine risk and protective factors for the development of dementia and factors relating to cognitive abilities in people with DS. Here we describe our cognitive test battery and related informant measures along with reporting data from our baseline cognitive and informant assessments. METHODS: We developed a cognitive test battery to assess general abilities, memory, executive function, and motor coordination abilities in adults with DS, with informant ratings of similar domains also collected, designed to allow for data on a broad range of participants. Participants (n=305) had a range of ages and abilities, and included adults with and without a clinical diagnosis of dementia. RESULTS: Results suggest the battery is suitable for the majority of adults with DS, although approximately half the adults with dementia were unable to undertake any cognitive task. Many test outcomes showed a range of scores with low floor and ceiling effects. Non-verbal age-adjusted IQ scores had lower floor effects than verbal IQ scores. Before the onset of any cognitive decline, females aged 16-35 showed better verbal abilities compared to males. We also identified clusters of cognitive test scores within our battery related to visuospatial memory, motor coordination, language abilities, and processing speed / sustained attention. CONCLUSIONS: Our further studies will use baseline and longitudinal assessments to explore factors influencing cognitive abilities and cognitive decline related to ageing and onset of dementia in adults with DS.

TÍTULO / TITLE:    - A multicentre Italian validation study in aging adults with Down syndrome and other forms of Intellectual Disabilities: Dementia Screening Questionnaire for Individuals with Intellectual Disabilities.

REVISTA / JOURNAL:    - Curr Alzheimer Res. 2017 Jan 16.

AUTORES / AUTHORS: - Gomiero T;et al.

INSTITUCIÓN / INSTITUTION: - Project DAD (Down Alzheimer Dementia) ANFFAS Trentino Onlus, Trient, Italy.  

RESUMEN / SUMMARY: - BACKGROUND: The USA National Task Group (NTG) guidelines advocate the use of an adapted version of Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) for dementia screening of individuals with Down syndrome (DS) and with other forms of ID (non-DS). OBJECTIVE: In order to meet these guidelines, this study verifies the psychometric properties of an Italian version of the original DSQIID in a population composed of adults aged 40 years and over with DS and non-DS ID. METHODS: Internal consistency, inter-rater and intra-rater reliabilities, structural validity, convergent validity and known group differences of DSQIID-I were assessed with 200 individuals with ID (mean of 55.2 years; range: 40-80 years) recruited from 15 different centers in Italy. Diagnosis of dementia was done according to IASSID diagnostic criteria and its degree of clinical certainty was defined according to Silverman et al.’s classification (2004). RESULTS: Cronbach’s alpha for the DSQIID-I was 0.94. The ICCs for inter-rater and test-retest reliability were both 0.89. A Principal Component analysis revealed three domains, namely memory and confusion-related items, motor and functional disabilities, depression and apathy, which explained almost 40% of the overall variance. The total DSQIID-I score correlated significantly with DMR and differed significantly among those individuals (n = 34) with cognitive decline from those without (n = 166). Age, gender and severity of ID were unrelated to the DSQIID-I. CONCLUSION: The present study confirms the cross-cultural value of DSQIID which was proved to be a psychometrically valid and user-friendly observer-rated scale for dementia screening in adults with both DS and non-DS ID.

TÍTULO / TITLE:    - The clinical and neurobehavioral course of Down syndrome and dementia with or without new-onset epilepsy.

REVISTA / JOURNAL:    - Epilepsy Behav. 2017 Jan 18;68:11-16. doi: 10.1016/j.yebeh.2016.12.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.yebeh.2016.12.014

AUTORES / AUTHORS: - Gholipour T; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Edward B. Bromfield Epilepsy Center, Brigham and Women’s Hospital, Boston, 75 Francis Street, Boston, MA 02115, USA; Department of Neurology, Massachusetts General Hospital, Boston, 55 Fruit Street, Boston, MA 02114   tgholipour@bwh.harvard.edu

RESUMEN / SUMMARY: - BACKGROUND: Adult patients with Down syndrome (DS) are at higher risk of developing Alzheimer-type dementia and epilepsy. The relationship between developing dementia and the risk of developing seizures in DS is poorly characterized to date. In addition, treatment response and medication tolerability have not been rigorously studied. METHODS: We identified 220 patients with a diagnosis of DS and dementia. Those without a history of developing seizures (DD) were compared to patients with new-onset seizures (DD+S) after the age of 35. Electronic records were reviewed for demographics, seizure characteristics, cognitive status, and psychiatric comorbidities. RESULTS: Of the patients included for analysis, twenty-six out of 60 patients had new-onset seizures or developed seizures during the follow-up period (the DD+S group) with a median onset of 2.0years after the dementia diagnosis. Generalized tonic-clonic seizures were the most common seizure type (61.5% of DD+S). Sixteen (61.5%) patients were reported to have myoclonus. Levetiracetam was the most commonly used initial medication, with the majority (73%) of patients treated achieving partial or complete seizure control. The DD+S patients tended to have a similar burden of new-onset neuropsychiatric symptoms compared to the DD group. DISCUSSION: New-onset epilepsy seems to occur early in the course of dementia in DS patients. Patients generally respond to treatment. A great burden of neuropsychiatric symptoms is seen. Future studies need to explore the relationship between beta-amyloid accumulation and epileptiform activity and attend to the care and needs of DS patients with dementia and seizures.

TÍTULO / TITLE:    - Neurons Derived from Induced Pluripotent Stem Cells of Patients with Down Syndrome Reproduce Early Stages of Alzheimer’s Disease Type Pathology in vitro.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2017;56(2):835-847. doi: 10.3233/JAD-160945.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-160945

AUTORES / AUTHORS: - Dashinimaev EB; et al.,

INSTITUCIÓN / INSTITUTION: - Koltzov Institute of Developmental Biology, Russian Academy of Sciences, Moscow, Russia.  

RESUMEN / SUMMARY: - People with Down syndrome (DS) are at high risk of developing pathology similar to Alzheimer’s disease (AD). Modeling of this pathology in vitro may be useful for studying this phenomenon. In this study, we analyzed three different cultures of neural cells carrying trisomy of chromosome 21, which were generated by directed differentiation from induced pluripotent stem cells (iPS cells). We report here that in vitro generated DS neural cells have abnormal metabolism of amyloid-beta (Abeta) manifested by increased secretion and accumulation of Abeta granules of Abeta42 pathological isoform with upregulated expression of the APP gene. Additionally, we found increased expression levels of genes that are considered to be associated with AD (BACE2, RCAN1, ETS2, TMED10), as compared to healthy controls. Thus, the neural cells generated from induced pluripotent stem cells with DS reproduce initial cellular signs of AD-type pathology and can be useful tools for modeling and studying this variant of AD in vitro.

TÍTULO / TITLE:    - Cognitive decline and dementia in Down syndrome.

REVISTA / JOURNAL:    - Curr Opin Psychiatry. 2017 Mar;30(2):102-107. doi: 10.1097/YCO.0000000000000307.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/YCO.0000000000000307

AUTORES / AUTHORS: - Hithersay R; et al.

INSTITUCIÓN / INSTITUTION: - Division of Psychiatry, University College London, London, United Kingdom.  

RESUMEN / SUMMARY: - PURPOSE OF REVIEW: Alzheimer’s disease is most likely universal in older individuals with Down syndrome, due to having three copies of the amyloid precursor protein gene, resulting in amyloid-beta plaque deposition. Down syndrome is an important population in which to consider clinical trials of treatments to prevent or delay the development of dementia. However, assessment of subtler cognitive changes is challenging due to the presence of intellectual disability. RECENT FINDINGS: Recent research confirmed that older adults with Down syndrome often present with cognitive decline: more than 80% may experience dementia by age 65 years. Efforts have been made to improve and validate neuropsychological assessment and to describe the relationship with comorbidities such as epilepsy and haemorrhagic stroke. There have also been advances in biomarkers such as neuroimaging using amyloid PET. SUMMARY: Clinical trials of treatments, particularly in the presymptomatic phase of Alzheimer’s disease, are important to consider in individuals with Down syndrome given their high dementia burden, and may also serve as proof of concept for other forms of Alzheimer’s disease. However, further work is required to improve outcome measures and better understand the biomarkers of progression of disorder and their relationship with symptom development during the presymptomatic period.

TÍTULO / TITLE:    - Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2017;56(2):459-470. doi: 10.3233/JAD-160836.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-160836

AUTORES / AUTHORS: - Doran E; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of California, Irvine Medical Center, Orange, CA, USA.  

RESUMEN / SUMMARY: - Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down syndrome (DS) has been linked to increased brain amyloid levels and early-onset Alzheimer’s disease (AD). An elderly man with phenotypic DS and partial trisomy of chromosome 21 (PT21) lacked triplication of APP affording an opportunity to study the role of this gene in the pathogenesis of dementia. Multidisciplinary studies between ages 66-72 years comprised neuropsychological testing, independent neurological exams, amyloid PET imaging with 11C-Pittsburgh compound-B (PiB), plasma amyloid-beta (Abeta) measurements, and a brain autopsy examination. The clinical phenotype was typical for DS and his intellectual disability was mild in severity. His serial neuropsychological test scores showed less than a 3% decline as compared to high functioning individuals with DS who developed dementia wherein the scores declined 17-28% per year. No dementia was detected on neurological examinations. On PiB-PET scans, the patient with PT21 had lower PiB standard uptake values than controls with typical DS or sporadic AD. Plasma Abeta42 was lower than values for demented or non-demented adults with DS. Neuropathological findings showed only a single neuritic plaque and neurofibrillary degeneration consistent with normal aging but not AD. Taken together the findings in this rare patient with PT21 confirm the obligatory role of APP in the clinical, biochemical, and neuropathological findings of AD in DS.

TÍTULO / TITLE:    - Epidemiology and outcomes of cardiac arrest among children with Down syndrome: a multicenter analysis.

REVISTA / JOURNAL:    - Minerva Anestesiol. 2016 Dec 22.

AUTORES / AUTHORS: - Padiyath A; Gupta P; et al.

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Cardiology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA   pgupta2@uams.edu

RESUMEN / SUMMARY: - BACKGROUND: With the increasing prevalence of Down syndrome, it is unknown if children with Down syndrome are associated with increased incidence of cardiac arrest and poor outcomes after cardiac arrest. The objective of this study was to evaluate the epidemiology of cardiac arrest and mortality after cardiac arrest among critically ill children with and without Down syndrome. METHODS: Patients CARDIOLOGY - CARDIOLOGÍA

TÍTULO / TITLE:    - Down syndrome and heart block secondary to neonatal lupus.

REVISTA / JOURNAL:    - Rev Med Inst Mex Seguro Soc. 2017 Jan-Feb;55(1):128-132.

AUTORES / AUTHORS: - Illana-Bravo CL; et al.

INSTITUCIÓN / INSTITUTION: - Departamento de Cardiologia Pediatrica, Hospital General Regional 36, Instituto Mexicano del Seguro Social, Puebla, Puebla, Mexico   carla_illana@hotmail.com

RESUMEN / SUMMARY: - In Down syndrome, so far, has not been reported it’s association with congenital heart block, this entity is rare and occurred in only 1% of mothers who have systemic lupus erythematosus, the presence of anti-Ro antibodies cross the placenta presenting neonatal lupus with skin lesions and congenital heart block, bradycardia, which is why we describe the following case. This is a new male end product of asymptomatic young mother, but serological birth with stigmata of Down syndrome, birth presents congenital bradycardia rare manifestation abnormalities, but common in children of mothers with lupus are initiated study protocol, realizing you including laboratory tests and immunological studies cabinet as electrocardiogram and echocardiogram, which gave tone to take the mother immunological studies, being positive antiRo. We concluded that the risk of heart block in a patient with Down syndrome is the same as for the general population.

DENTAL - DENTAL

TÍTULO / TITLE:    - Preventative therapies and periodontal interventions for Down syndrome patients.

REVISTA / JOURNAL:    - Evid Based Dent. 2016 Dec;17(4):101-102. doi: 10.1038/sj.ebd.6401198.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/sj.ebd.6401198

AUTORES / AUTHORS: - Jones D; Morrison J;

INSTITUCIÓN / INSTITUTION: - Public Dental Service, NHS Highland, Inverness, Scotland.  

RESUMEN / SUMMARY: - Data sourcesMedline, Embase, Cochrane CENTRAL and OpenGREY databases without language restriction until March 2016 plus manual searching of four specific journals and consideration of reference lists.Study selectionStudies evaluating different methods of periodontal treatment in Down syndrome patients measuring at least two periodontal parameters at different periods of assessment. Titles, abstracts and full texts were considered by two independent reviewers and a third where discussion did not reach consensus. Randomised controlled trials were evaluated using the Cochrane risk of bias tool. The observational studies were evaluated using an adapted version of the Newcastle-Ottawa Scale.Data extraction and synthesisData extraction was carried out independently by two reviewers and organised into evidence tables. No meta-analysis was undertaken, however a narrative synthesis was presented.ResultsNine studies met the inclusion criteria; four longitudinal studies, one prospective case series and four clinical trials which included two cross-over studies and a controlled trial. The studies showed marked heterogeneity in terms of methodology, intervention and outcome measures. All studies, however, included assessment of different plaque and gingival indices.Three studies investigated outcomes after scaling and root planing, one of which compared surgical and non-surgical approaches. Periodontal pockets of 1-3 mm were statistically significantly improved with non-surgical treatment in comparison with pockets greater than 4 mm which showed greater reduction with surgical treatment. Six studies investigated different forms and uses of chlorhexidine, three of which investigated its use as an adjuvant to mechanical debridement and one which also included plaque disclosing as an intervention. Chlorhexidine was shown to be most effective when used daily as a 1% gel for toothbrushing. The use of a plaque disclosing tablet and fluoridated tooth paste, however, showed further impr

TÍTULO / TITLE:    - Prosthodontic Rehabilitation for a Patient with Down Syndrome: A Clinical Report.

REVISTA / JOURNAL:    - J Prosthodont. 2017 Jan 24. doi: 10.1111/jopr.12595.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jopr.12595

AUTORES / AUTHORS: - Alqahtani NM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Prosthetic Dental Sciences, King Khalid University College of Dentistry, Abha, Saudi Arabia.  

RESUMEN / SUMMARY: - Patients with Down syndrome can present with a variety of oral manifestations such as hypodontia, periodontal disease, premature tooth loss, reduced salivary flow, crowding of teeth in both arches, and decreased occlusal vertical dimension. The intellectual ability of people with Down syndrome varies widely. They present with a mild-to-moderate intellectual disability that restricts their ability to communicate and adjust to their environment, which can add complexity in the overall dental treatment. There is little information in the literature regarding the prosthodontic rehabilitation for patients with Down syndrome in combination with dental implant placement. An implant-assisted removable partial dental prosthesis can be a cost-effective treatment alternative for carefully chosen patients with Down syndrome. This article presents the treatment of a 44-year-old male patient with Down syndrome and a moderate intellectual disability who presented with congenital and acquired tooth loss with significant occlusal discrepancies. The treatment included a prosthodontic approach that used a single dental implant, which will be described and illustrated in this article.

TÍTULO / TITLE:    - Oral Rehabilitation with Implant-Retained Overdenture in a Patient with Down Syndrome.

REVISTA / JOURNAL:    - J Prosthodont. 2017 Jan 24. doi: 10.1111/jopr.12596.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jopr.12596

AUTORES / AUTHORS: - Altintas NY; et al

INSTITUCIÓN / INSTITUTION: - Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey.  

RESUMEN / SUMMARY: - Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period. The prosthetic rehabilitation was performed with implant-retained maxillary and mandibular overdentures with the Locator attachment system. After a 2-year follow-up period, the patient was doing well, and all implants were clinically stable with no signs of bone loss or inflammation. The present study emphasizes that implant-retained overdentures with Locator attachment system could be a therapeutic option even for patients with Down syndrome. This therapy prevents crestal bone loss around the implants, improves functional and esthetic outcomes, and provides optimum oral hygiene for patients with mild mental impairment. Careful patient selection and education of patients and caregivers are essential considerations for a successful and safe treatment with dental implants in Down syndrome patients.

TÍTULO / TITLE:    - Dental caries and associated factors in twins with Down syndrome: a case report.

REVISTA / JOURNAL:    - Spec Care Dentist. 2016 Dec 6. doi: 10.1111/scd.12213.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/scd.12213

AUTORES / AUTHORS: - Moreira MJ;et al.

INSTITUCIÓN / INSTITUTION: - Graduate Student, Faculty of Dentistry, Department of Preventive and Social Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.  

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetic disorder in humans, but its incidence in monozygotic twins is extremely rare. The aim of this study was to determine the factors associated with dental caries in a pair of monozygotic twin girls with DS, where one had caries experience and the other did not. Clinical examination, salivary Streptococcus mutans (S. mutans) levels and their genotypic diversity, the biochemical composition of the dental biofilm, the frequency of sucrose consumption, and toothbrushing habits were assessed from the twin girls. Twin with caries experience showed higher levels of S. mutans in the saliva and lower concentrations of calcium, phosphate, and fluoride and higher concentrations of extracellular polysaccharides in the biofilm compared to her sister. Genotypic diversity of S. mutans was also higher in the twin with caries experience. Dental biofilm composition showed different patterns of cariogenicity between the two sisters, which may also by itself explain the difference in the dental caries between them.

TÍTULO / TITLE:    - ORAL HEALTH OF DOWN SYNDROME CHILDREN IN BOSNIA AND HERZEGOVINA.

REVISTA / JOURNAL:    - Mater Sociomed. 2016 Oct;28(5):370-372. doi: 10.5455/msm.2016.28.370-372. Epub 2016 Oct 17.

Enlace a la Editora de la Revista http://dx.doi.org/10.5455/msm.2016.28.370-372

AUTORES / AUTHORS: - Porovic S; et al.

INSTITUCIÓN / INSTITUTION: - Department of Preventive and Pediatric Dentistry, Public Health Center of Sarajevo Canton, Sarajevo, Bosnia and Herzegovina.  

RESUMEN / SUMMARY: - INTRODUCTION: The objective of this study was to determine the oral health condition Down syndrome (DS) children in Bosnia and Herzegovina, by analizing oral health of Down syndrome individuals in two largest regions, Sarajevo and Tuzla Canton. PATIENTS AND METHODS: Caries and oral health status of Down syndrome children aged 6-18 years were examined and assessed according WHO 1997 criteria. DS individuals were divided in to four age groups: I (0-6 yrs); II (7-12 yrs); III (13-18 yrs). RESULTS: The mean dmft/DMFT index for age group I is (6,40+/-6,05); II (2,05+/-2,04) and III (10,30+/-6,80). The analysis of oral hygiene of Down syndrome children by using the debris index, it was found that 43,9% have very good oral hygiene, 33,3% respondents have good oral hygiene, 15,8% were with poor oral hygiene, while the very poor hygiene had 7% subjects. By using Pearson’s correlation to the value of DMFT, debris index and age of examinees with Down syndrome, it is established a statistically significant positive correlation between analyzed variables. Values of CPI index according to age groups were as follows: I (0,1); II (0,17) and III group (0,4).

DERMATOLOGY - DERMATOLOGÍA

TÍTULO / TITLE:    - A rare association in Down syndrome: milialike idiopathic calcinosis cutis and palpebral syringoma.

REVISTA / JOURNAL:    - Cutis. 2016 Dec;98(6):E22-E23.

AUTORES / AUTHORS: - Turan E; et al.

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, Faculty of Medicine, University of Harran, Turkey.  

RESUMEN / SUMMARY: -

EAR/NASAL - OTORRINOLARINGOLOGÍA

TÍTULO / TITLE:    - Adenotonsillectomy outcomes in patients with Down syndrome and obstructive sleep apnea.

REVISTA / JOURNAL:    - Laryngoscope. 2017 Jan 5. doi: 10.1002/lary.26398.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/lary.26398

AUTORES / AUTHORS: - Farhood Z; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology-Head & Neck Surgery, Saint Louis University, St. Louis, MO, U.S.A.  

RESUMEN / SUMMARY: - OBJECTIVE: To review the literature for studies examining polysomnography (PSG) outcomes in patients with Down syndrome (DS) and obstructive sleep apnea (OSA) following adenotonsillectomy (T&A), and to review our experience with these patients. DATA SOURCES: PubMed-NCBI, Scopus, Ovid, EBSCO, Cochrane, and EMBASE databases; tertiary academic center medical records. REVIEW METHODS: A systematic review of the medical literature identified articles reporting objective outcomes following T&A for OSA treatment in patients with DS. Articles were critically appraised to assess level of evidence and bias, and the results of articles were summarized. A case series of confirmed patients with DS and OSA was conducted, evaluating T&A efficacy by comparing pre- and posttreatment PSG data. RESULTS: Six articles were identified, which demonstrated some improvement after T&A in the treatment of OSA; however, subjects frequently had persistent disease. At our institution, preoperative Apnea-Hypopnea Index (AHI) improved from 13.75 (interquartile range [IQR] = 6.65-23.43) to 3.5 (IQR = 1.96-9.63) postoperatively; P = 0.004. Ten percent of patients had preoperative AHIs < 5; this proportion increased to 60% following surgery. Twenty percent of patients had postoperative AHIs < 1. CONCLUSION: There is little objective data in the medical literature addressing T&A efficacy in treating OSA in patients with DS patients. Patients show objective improvement in sleep parameters following T&A for OSA. Adenotonsillectomy should be suggested as a first-line treatment for children with DS and OSA, keeping in mind that monotherapy may be insufficient. Future studies utilizing objective measures are required to further quantify the effect in this patient population. LEVEL OF EVIDENCE: Laryngoscope, 2017.

TÍTULO / TITLE:    - Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome.

REVISTA / JOURNAL:    - J Laryngol Otol. 2016 Dec 28:1-5. doi: 10.1017/S0022215116009786.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/S0022215116009786

AUTORES / AUTHORS: - Clark CM; et al.

INSTITUCIÓN / INSTITUTION: - Department of Surgery,Division of Otolaryngology - Head and Neck Surgery,Pennsylvania State University College of Medicine,Hershey, PA,USA.  

RESUMEN / SUMMARY: - BACKGROUND: Histopathological anomalies of inner-ear structures in individuals with Down syndrome have been well documented; however, few studies have examined the radiological features. METHODS: A retrospective study was conducted of temporal bone computed tomography images in 38 individuals (75 ears) with Down syndrome to evaluate the prevalence of inner-ear abnormalities and assess vestibular aqueduct widths. RESULTS: Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cent) were found to have higher than previously reported. A dilated internal auditory canal and vestibule were more common among the present study group, while prior studies have demonstrated internal auditory canal stenosis and decreased vestibule size. CONCLUSION: Down syndrome patients exhibit a high prevalence of dysplastic inner-ear features that confer substantial risk of sensorineural hearing loss. Computed tomography is a useful screening aid to detect inner-ear abnormalities, particularly enlarged vestibular aqueducts, which cause preventable sensorineural hearing loss in this population.

TÍTULO / TITLE:    - Anomalous stapes in Down syndrome.

REVISTA / JOURNAL:    - Ear Nose Throat J. 2017 Jan;96(1):15-19.

AUTORES / AUTHORS: - Ginat DT;

INSTITUCIÓN / INSTITUTION: - Department of Radiology, University of Chicago, Chicago, IL, USA.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:    - Electrophysiological characterization of hearing in individuals with Down syndrome.

REVISTA / JOURNAL:    - Codas. 2016 Nov-Dec;28(6):717-723. doi: 10.1590/2317-1782/20162015266. Epub 2016 Dec 12.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/2317-1782/20162015266

AUTORES / AUTHORS: - Kazan HM; et al.

INSTITUCIÓN / INSTITUTION: - Universidade de Sao Paulo - USP - Sao Paulo (SP), Brasil.  

RESUMEN / SUMMARY: - Introduction: Few studies have performed Brainstem (BAEP) and P300 Auditory Evoked Potentials simultaneously to assess central auditory pathways in normal hearing individuals with Down syndrome (DS), mainly because of the difficulty in applying these procedures to this population. Previous studies have suggested that individuals with DS might present different patterns of response compared with those of individuals with typical development; nevertheless, the identification of these potentials would be crucial for the establishment of an accurate audiological diagnosis. Purpose: To characterize BAEP and P300 in normal-hearing individuals with DS. Methods: BAEP and P300 were analyzed in 17 individuals with DS and in 21 individuals with typical development aged 7 to 15 years. The results were quantitatively and qualitatively analyzed using descriptive measures and hypothesis tests. Results: In the quantitative analysis, latency values were lower in the BAEP for the DS group, with statistically significant difference for wave V and interpeaks III-V and I-V; there were no significant differences in the P300 latency values. In the qualitative analysis, there were a larger number of individuals with early values for BAEP latencies and late latencies for P300 in the DS group; both comparisons showed statistically significant differences. Conclusion: Children and adolescents with DS can present early responses to the components of BAEP, suggesting that their auditory pathway requires less time for the neural transmission of acoustic stimuli to the brainstem. Concerning P300, individuals with DS may present increased latencies, suggesting impairment in the central auditory pathway for the cortical processing of auditory information.

GENETICS - GENÉTICA

TÍTULO / TITLE:    - Down syndrome and the complexity of genome dosage imbalance.

REVISTA / JOURNAL:    - Nat Rev Genet. 2017 Mar;18(3):147-163. doi: 10.1038/nrg.2016.154. Epub 2016 Dec 28.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/nrg.2016.154

AUTORES / AUTHORS: - Antonarakis SE;

INSTITUCIÓN / INSTITUTION: - Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland.  

RESUMEN / SUMMARY: - Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic gain dosage imbalances, including microduplications. The functional genomic exploration of the post-sequencing years of chromosome 21, and the generation of numerous cellular and mouse models, have provided an unprecedented opportunity to decipher the molecular consequences of genome dosage imbalance. Studies of Down syndrome could provide knowledge far beyond the well-known characteristics of intellectual disability and dysmorphic features, as several other important features, including congenital heart defects, early ageing, Alzheimer disease and childhood leukaemia, are also part of the Down syndrome phenotypic spectrum. The elucidation of the molecular mechanisms that cause or modify the risk for different Down syndrome phenotypes could lead to the introduction of previously unimaginable therapeutic options.

TÍTULO / TITLE:    - Down syndrome in diverse populations.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38043

AUTORES / AUTHORS: - Kruszka P; et al.

INSTITUCIÓN / INSTITUTION: - Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.  

RESUMEN / SUMMARY: - Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n = 129 cases; n = 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally.

TÍTULO / TITLE:    - Perinatal Natural History of the Ts1Cje Mouse Model of Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development.

REVISTA / JOURNAL:    - PLoS One. 2016 Dec 8;11(12):e0168009. doi: 10.1371/journal.pone.0168009. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0168009

AUTORES / AUTHORS: - Ferres MA; et al.

INSTITUCIÓN / INSTITUTION: - Mother Infant Research Institute (MIRI) at Tufts Medical Center and Floating Hospital for Children, Boston, MA, United States.;  

RESUMEN / SUMMARY: - BACKGROUND: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human pregnancies. Here we describe the early natural history and growth profiles of Ts1Cje embryos and neonates and determine if heart defects are present in this strain. METHODS: Pups were studied either on embryonic (E) day 15.5, or from postnatal (P) day 3 through weaning on P21. PCR amplification targeting the neomycin cassette (present in Ts1Cje) and Sry (present in males) was used to analyze pup genotypes and sex ratios. Body weights and lengths, as well as developmental milestones, were recorded in Ts1Cje mice and compared to their wild-type (WT) littermates. Histological evaluations were performed at E15.5 to investigate the presence or absence of heart defects. Pups were divided into two groups: Ts1Cje-I pups survived past weaning and Ts1Cje-II pups died at some point before P21. RESULTS: Ts1Cje mouse embryos showed expected Mendelian ratios (45.8%, n = 66 for Ts1Cje embryos; 54.2%, n = 78 for WT embryos). Histological analysis revealed the presence of ventricular septal defects (VSDs) in 21% of Ts1Cje E15.5 embryos. After weaning, only 28.2% of pups were Ts1Cje (185 Ts1Cje out of 656 total pups generated), with males predominating (male:female ratio of 1.4:1). Among the recovered dead pups (n = 207), Ts1Cje (63.3%, n = 131, p<0.01) genotype was found significantly more often than WT (36.7%, n = 76). Retrospective analysis of Ts1Cje-II (pre-weaning deceased) pups showed that they were growth restricted compared to Ts1Cje-I pups (post-weaning survivors). Growth restriction correlated with statistically significant delays in achieving several neonatal milestones between P3 and P21 compared to Ts1Cje-I (post-weaning survivors) neonates and WT littermates. CONCLUSIONS: Ts1Cje genotype is not associated with increased early in utero mortality. Cardiac

TÍTULO / TITLE:    - Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models.

REVISTA / JOURNAL:    - Epigenomics. 2017 Feb;9(2):189-207. doi: 10.2217/epi-2016-0138. Epub 2016 Dec 2.

Enlace a la Editora de la Revista http://dx.doi.org/10.2217/epi-2016-0138

AUTORES / AUTHORS: - Do C; et al.

INSTITUCIÓN / INSTITUTION: - Institute for Cancer Genetics, Columbia University, New York, NY 10032, USA.  

RESUMEN / SUMMARY: - An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM. The findings may have broader implications for trans-acting epigenetic effects of chromosomal and subchromosomal aneuploidies in other human developmental and neuropsychiatric disorders, and in cancers.

TÍTULO / TITLE:    - A case report with the peculiar concomitance of 2 different genetic syndromes.

REVISTA / JOURNAL:    - Medicine (Baltimore). 2016 Dec;95(49):e5567.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MD.0000000000005567

AUTORES / AUTHORS: - Lerario A; et al

INSTITUCIÓN / INSTITUTION: - Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan  

RESUMEN / SUMMARY: - RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period. DIAGNOSES: Skeletal muscle biopsy revealed marked dystrophic changes with patchy immunostaining for dystrophin. The Duchenne muscular dystrophy gene was screened for deletions by multiplex polymerase chain reaction, but no mutations were found. Sequence analysis of the Duchenne muscular dystrophy gene revealed a splice-site mutation c.1812+1G>A in intron 15 and confirmed a diagnosis of Becker muscular dystrophy. INTERVENTIONS: The patient has started a specific physiotherapy that avoided any deterioration in motor development and muscular wasting. OUTCOMES: A multidisciplinary follow-up was initiated. The genetician that followed the patient for DS was supported by the neurologist, the physiotherapist, the pulmonologist, and the cardiologist. LESSONS: This peculiar “double trouble” case exemplifies the value of careful clinical evaluation and adequate clinical experience to identify the concomitance of 2 different genetic syndromes in the same patient, and it points out the significance of muscular strength assessment in DS patients to make the most correct prognosis, and, consequently, to organize the best long-term care.

TÍTULO / TITLE:    - Induced pluripotent stem cells as a cellular model for studying Down Syndrome.

REVISTA / JOURNAL:    - J Stem Cells Regen Med. 2016 Nov 29;12(2):54-60. eCollection 2016.

AUTORES / AUTHORS: - Brigida AL; Siniscalco D

INSTITUCIÓN / INSTITUTION: - Department of Experimental Medicine, Second University of Naples, 80138 Napoli, Italy.  

RESUMEN / SUMMARY: - Down Syndrome (DS), or Trisomy 21 Syndrome, is one of the most common genetic diseases. It is a chromosomal abnormality caused by a duplication of chromosome 21. DS patients show the presence of a third copy (or a partial third copy) of chromosome 21 (trisomy), as result of meiotic errors. These patients suffer of many health problems, such as intellectual disability, congenital heart disease, duodenal stenosis, Alzheimer’s disease, leukemia, immune system deficiencies, muscle hypotonia and motor disorders. About one in 1000 babies born each year are affected by DS. Alterations in the dosage of genes located on chromosome 21 (also called HSA21) are responsible for the DS phenotype. However, the molecular pathogenic mechanisms of DS triggering are still not understood; newest evidences suggest the involvement of epigenetic mechanisms. For obvious ethical reasons, studies performed on DS patients, as well as on human trisomic tissues are limited. Some authors have proposed mouse models of this syndrome. However, not all the features of the syndrome are represented. Stem cells are considered the future of molecular and regenerative medicine. Several types of stem cells could provide a valid approach to offer a potential treatment for some untreatable human diseases. Stem cells also represent a valid system to develop new cell-based drugs and/or a model to study molecular disease pathways. Among stem cell types, patient-derived induced pluripotent stem (iPS) cells offer some advantages for cell and tissue replacement, engineering and studying: self-renewal capacity, pluripotency and ease of accessibility to donor tissues. These cells can be reprogrammed into completely different cellular types. They are derived from adult somatic cells via reprogramming with ectopic expression of four transcription factors (Oct3/4, Sox2, c-Myc and Klf4; or, Oct3/4, Sox2, Nanog, and Lin28). By reprogramming cells from DS patients, it is possible to obtain new tissue with the same genetic

GROWTH/DEVELOPMENT - CRECIMIENTO/DESARROLLO

TÍTULO / TITLE:    - Dietary practices of children and adolescents with Down syndrome.

REVISTA / JOURNAL:    - J Intellect Disabil. 2017 Jan 1:1744629516686571. doi: 10.1177/1744629516686571.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1744629516686571

AUTORES / AUTHORS: - Magenis ML; et al.

INSTITUCIÓN / INSTITUTION: - Universidade do Extremo Sul Catarinense, Brasil.  

RESUMEN / SUMMARY: - The aim of this study was to assess dietary intake, breastfeeding history, weight at birth and current weight in children and adolescents with Down syndrome (DS). Therefore, a cross-sectional, controlled study with 19 DS participants and 19 controls without DS matched by gender and age was performed. Except for vitamin D, a lower or the same frequency of insufficient intake in other micronutrients was noted in participants compared with controls. The DS group had a reduced exclusive breastfeeding duration and increased carbohydrate and caloric intake. The consumption of micronutrients in both groups reinforced the current trend of excessive sodium consumption and insufficient intake of calcium, some B complex vitamins and water by children and adolescents.

TÍTULO / TITLE:    - Perinatal Natural History of the Ts1Cje Mouse Model of Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development.

REVISTA / JOURNAL:    - PLoS One. 2016 Dec 8;11(12):e0168009. doi: 10.1371/journal.pone.0168009. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1371/journal.pone.0168009

AUTORES / AUTHORS: - Ferres MA; et al.

INSTITUCIÓN / INSTITUTION: - Mother Infant Research Institute (MIRI) at Tufts Medical Center and Floating Hospital for Children, Boston, MA, United States.;  

RESUMEN / SUMMARY: - BACKGROUND: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human pregnancies. Here we describe the early natural history and growth profiles of Ts1Cje embryos and neonates and determine if heart defects are present in this strain. METHODS: Pups were studied either on embryonic (E) day 15.5, or from postnatal (P) day 3 through weaning on P21. PCR amplification targeting the neomycin cassette (present in Ts1Cje) and Sry (present in males) was used to analyze pup genotypes and sex ratios. Body weights and lengths, as well as developmental milestones, were recorded in Ts1Cje mice and compared to their wild-type (WT) littermates. Histological evaluations were performed at E15.5 to investigate the presence or absence of heart defects. Pups were divided into two groups: Ts1Cje-I pups survived past weaning and Ts1Cje-II pups died at some point before P21. RESULTS: Ts1Cje mouse embryos showed expected Mendelian ratios (45.8%, n = 66 for Ts1Cje embryos; 54.2%, n = 78 for WT embryos). Histological analysis revealed the presence of ventricular septal defects (VSDs) in 21% of Ts1Cje E15.5 embryos. After weaning, only 28.2% of pups were Ts1Cje (185 Ts1Cje out of 656 total pups generated), with males predominating (male:female ratio of 1.4:1). Among the recovered dead pups (n = 207), Ts1Cje (63.3%, n = 131, p<0.01) genotype was found significantly more often than WT (36.7%, n = 76). Retrospective analysis of Ts1Cje-II (pre-weaning deceased) pups showed that they were growth restricted compared to Ts1Cje-I pups (post-weaning survivors). Growth restriction correlated with statistically significant delays in achieving several neonatal milestones between P3 and P21 compared to Ts1Cje-I (post-weaning survivors) neonates and WT littermates. CONCLUSIONS: Ts1Cje genotype is not associated with increased early in utero mortality. Cardiac

GYNECOLOGY - GINECOLOGÍA

TÍTULO / TITLE:    - Long-time sickness absence among parents of pre-school children with cerebral palsy, spina bifida and down syndrome: a longitudinal study.

REVISTA / JOURNAL:    - BMC Pediatr. 2017 Jan 18;17(1):26. doi: 10.1186/s12887-016-0774-8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12887-016-0774-8

AUTORES / AUTHORS: - Brekke I; et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Health Sciences - Department of Nursing and Health Promotion, Oslo and Akershus University College of Applied Sciences, Post Box 4, St. Olavs plass, N-0130, Oslo, Norway.   idunn.brekke@hioa.no

RESUMEN / SUMMARY: - BACKGROUND: Taking care of a child with special needs can be draining and difficult and require a lot of parental time and resources. The present study investigated the long-term sickness absence of parents who have children with spina bifida, cerebral palsy and Down syndrome compared to that of parents without a child with special needs. METHODS: The sample consisted of primiparae women who gave birth between 2001 and 2005 and the fathers of the children (N = 202,593). Data were obtained from the Medical Birth Registry of Norway (MBRN), which is linked to the Central Population Register, education and income registries and Historical Event Database (FD-Trygd) of Statistics Norway (SSB). The linkage data provide longitudinal data, together with annual updates on children and their parents. Statistical analyses were performed using difference-in-difference (DD) study design. RESULTS: Caring for a child with special needs affected maternal sickness absence, particularly in the first year after the birth. The level of sickness absence of mothers caring for a child with spina bifida and cerebral palsy was greater than that of mothers caring for a child with Down syndrome. In contrast, the sickness absence of fathers caring for a child with special needs was, on average, comparable to that of fathers without a special-needs child in the post-birth period. CONCLUSIONS: Caring for a child with special needs affected the long-term sickness absence of mothers but not fathers. The findings indicate that the burden of care in the case of children with special needs falls especially on the mother.

HEMATOLOGY/ONCOLOGY - HEMATOLOGÍA/ONCOLOGÍA

TÍTULO / TITLE:    - Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes.

REVISTA / JOURNAL:    - Nat Genet. 2017 Jan 23. doi: 10.1038/ng.3772.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/ng.3772

AUTORES / AUTHORS: - de Rooij JD; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Oncology, Erasmus MC-Sophia Children’s Hospital, Rotterdam, the Netherlands.  

RESUMEN / SUMMARY: - Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal megakaryoblasts. While rare in adults, AMKL accounts for 4-15% of newly diagnosed childhood AML cases. AMKL in individuals without Down syndrome (non-DS-AMKL) is frequently associated with poor clinical outcomes. Previous efforts have identified chimeric oncogenes in a substantial number of non-DS-AMKL cases, including RBM15-MKL1, CBFA2T3-GLIS2, KMT2A gene rearrangements, and NUP98-KDM5A. However, the etiology of 30-40% of cases remains unknown. To better understand the genomic landscape of non-DS-AMKL, we performed RNA and exome sequencing on specimens from 99 patients (75 pediatric and 24 adult). We demonstrate that pediatric non-DS-AMKL is a heterogeneous malignancy that can be divided into seven subgroups with varying outcomes. These subgroups are characterized by chimeric oncogenes with cooperating mutations in epigenetic and kinase signaling genes. Overall, these data shed light on the etiology of AMKL and provide useful information for the tailoring of treatment.

TÍTULO / TITLE:    - Health-related Quality of Life (HR-QOL) and Chronic Health Conditions in Survivors of Childhood Acute Myeloid Leukemia (AML) with Down Syndrome (DS): A Report From the Children’s Oncology Group.

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2017 Jan;39(1):20-25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000000707

AUTORES / AUTHORS: - Schultz KA; et al.

INSTITUCIÓN / INSTITUTION: - Cancer and Blood Disorders, Children’s Hospitals and Clinics of Minnesota, HealthPartners Institute for Education & Research.Department of Pediatrics, University of Minnesota, Minneapolis, MN.  

RESUMEN / SUMMARY: - Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived >/=5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8.3 to 27.6 y). Participants with DS and AML were compared with AML survivors without DS whose caregiver completed a HR-QOL survey (CHQ-PF50). In total, 77% of survivors with DS reported >/=1 chronic health condition compared with 50% of AML survivors without DS (P=0.07). Mean physical and psychosocial QOL scores for children with DS and AML were statistically lower than the population mean, though not discrepant from AML survivors without DS. Although the overall prevalence of chronic health conditions in survivors with DS is higher than in survivors without DS, prior studies of children with DS have reported similarly high rates of chronic health conditions, suggesting that AML therapy may not substantially increase this risk.

TÍTULO / TITLE:    - Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome.

REVISTA / JOURNAL:    - Genes Chromosomes Cancer. 2017 Jan 7. doi: 10.1002/gcc.22444.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/gcc.22444

AUTORES / AUTHORS: - Hara Y; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Pediatric acute megakaryoblastic leukemia in non-Down syndrome (AMKL) is a unique subtype of acute myeloid leukemia (AML). Novel CBFA2T3-GLIS2 and NUP98-KDM5A fusions recurrently found in AMKL were recently reported as poor prognostic factors. However, their detailed clinical and molecular characteristics in patients treated with recent improved therapies remain uncertain. We analyzed molecular features of 44 AMKL patients treated on two recent Japanese AML protocols, the AML99 and AML-05 trials. We identified CBFA2T3-GLIS2, NUP98-KDM5A, RBM15-MKL1, and KMT2A rearrangements in 12 (27%), 4 (9%), 2 (5%), and 3 (7%) patients, respectively. Among 459 other AML patients, NUP98-KDM5A was identified in 3 patients, whereas CBFA2T3-GLIS2 and RBM15-MKL1 were only present in AMKL. GATA1 mutations were found in 5 patients (11%). Four-year overall survival (OS) and event-free survival (EFS) rates of CBFA2T3-GLIS2-positive patients in AMKL were 41.7% and 16.7%, respectively. Three-year cumulative incidence of relapse in CBFA2T3-GLIS2-positive patients was significantly higher than that of CBFA2T3-GLIS2-negative patients (75.0% vs. 35.7%, P = 0.024). In multivariate analyses, CBFA2T3-GLIS2 was an independent poor prognostic factor for OS (HR, 4.34; 95% CI, 1.31-14.38) and EFS (HR, 2.95; 95% CI, 1.20-7.23). Furthermore, seven (54%) of 13 infant AMKL patients were CBFA2T3-GLIS2-positive. Notably, out of 7 CBFA2T3-GLIS2-positive infants, six (86%) relapsed and five (71%) died. Moreover, all of CBFA2T3-GLIS2-positive patients who experienced induction failure (n = 3) were infants, indicating worse prognosis of CBFA2T3-GLIS2-positive infants. These findings indicated the significance of CBFA2T3-GLIS2 as a poor prognostic factor in AMKL patients, particularly in infants.

TÍTULO / TITLE:    - Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature.

REVISTA / JOURNAL:    - Am J Clin Pathol. 2016 Dec;146(6):753-759. doi: 10.1093/ajcp/aqw190. Epub 2016 Dec 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/ajcp/aqw190

AUTORES / AUTHORS: - Yin L; Liang X; et al.

INSTITUCIÓN / INSTITUTION: - From the Department of Pathology, University of Colorado, Anschutz Medical Campus, Aurora   xiayuan.liang@childrenscolorado.org

RESUMEN / SUMMARY: - OBJECTIVES: Down syndrome (DS)-associated transient abnormal myelopoiesis (TAM) or acute megakaryoblastic leukemia (AMKL) in monozygotic twins is exceedingly rare and has not been well characterized. METHODS: We describe a unique case of monozygotic twins with simultaneous TAM from a triplet pregnancy at 34 weeks’ gestation. Previously reported cases of TAM and DS-AMKL in monozygotic twins have been reviewed to compare with our cases. The current concept of a sequential multistep process in leukemogenesis and disease evolution of TAM into DS-AMKL through the collaboration among trisomy 21, GATA1, and other gene mutations is also reviewed. RESULTS: Distinct GATA1 mutations are identified in our neonate twins with TAM from a triplet pregnancy, whereas precisely identical GATA1 mutations have been detected in all three monozygotic DS twins reported in the literature. CONCLUSIONS: Identical GATA1 mutations in cases of monozygotic twins are likely derived from twin-twin transmission. Distinct GATA1 mutations identified in our neonate twins with TAM provide unequivocal evidence of independent intra-utero GATA1 mutations, a completely different mechanism of development of TAM in monozygotic twins from previously reported cases. Interaction of trisomy 21 and GATA1 mutation produces TAM, but additional gene mutations are required for TAM to transform into DS-AMKL.

TÍTULO / TITLE:    - Acute lymphoblastic leukemia in patients with Down syndrome with a previous history of acute myeloid leukemia.

REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2016 Dec 24. doi: 10.1002/pbc.26411.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pbc.26411

AUTORES / AUTHORS: - Tomizawa D; et al.

INSTITUCIÓN / INSTITUTION: - Children’s Cancer Center, National Center for Child Health and Development, Tokyo, Japan.;  

RESUMEN / SUMMARY: - Patients with Down syndrome (DS) are predisposed to acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) in early and later childhood, respectively, but rarely experience both. We herein discuss four patients with DS with ALL and a history of AML who were treated with various chemotherapies, one of whom later received a bone marrow transplantation. Three patients survived and remain in remission. One patient died of fulminant hepatitis during therapy. No common cytogenetic abnormalities in AML and ALL besides constitutional +21 were identified, indicating that the two leukemia types were independent events. However, the underlying pathomechanism of these conditions awaits clarification.

TÍTULO / TITLE:    - Evaluation of maternal health and labor and delivery conditions as risk factors for childhood leukemias in children with Down syndrome.

REVISTA / JOURNAL:    - Cancer Epidemiol. 2017 Feb;46:36-41. doi: 10.1016/j.canep.2016.12.003. Epub 2016 Dec 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.canep.2016.12.003

AUTORES / AUTHORS: - Carozza SE; et al.

INSTITUCIÓN / INSTITUTION: - College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331   susan.carozza@oregonstate.edu

RESUMEN / SUMMARY: - Children with Down syndrome (DS) have a remarkably high risk of developing leukemia during childhood; the mechanisms driving that risk are not well understood, and no clear prevention strategies exist. We conducted a nested case-control study in a Texas DS birth cohort to investigate possible links between maternal health, labor/delivery conditions, and leukemia risk. For most of the factors studied there was no evidence of an increased risk of total leukemias, or the subtypes acute lymphoid or acute myeloid leukemia. Ultrasound use showed an almost 2-fold increased odds of leukemia, but this result is likely an example of confounding by indication. There was a pattern of increased risk seen for presence of co-occurring heart anomalies, including tetralogy of Fallot, ventricular septal defects, atrial septal defects, and patent ductus arteriosus. Further investigation of the links between co-occurring heart defects in children with DS and development of leukemia may provide new understanding of cancer mechanisms, and ultimately lead to prevention opportunities for this high-risk population.

TÍTULO / TITLE:    - Down syndrome critical region 1 positively correlates with angiogenesis in hypopharyngeal cancer.

REVISTA / JOURNAL:    - Mol Med Rep. 2017 Jan;15(1):263-270. doi: 10.3892/mmr.2016.5989. Epub 2016 Dec 6.

Enlace a la Editora de la Revista http://dx.doi.org/10.3892/mmr.2016.5989

AUTORES / AUTHORS: - Lv C; et al.

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology, Yantaishan Hospital, Yantai, Shandong 264000, P.R. China.  

RESUMEN / SUMMARY: - Hypopharyngeal carcinoma has one of the highest mortality rates of head and neck cancer, therefore, the identification of markers associated with the pathogenesis and development of hypopharyngeal cancer is critical. Down syndrome critical region 1 (DSCR1) is associated with carcinogenesis and tumor growth in several types of malignancy. Activation of the vascular endothelial growth factor (VEGF) signaling pathway upregulates DSCR1. The aims of the present study were to determine the expression levels of DSCR1 and VEGFC in hypopharyngeal cancer, and investigate the association between DSCR1 and angiogenesis in the disease. Tissue samples from 94 cases of pathologically confirmed hypopharyngeal squamous cell carcinoma were collected. The mRNA levels of DSCR1 and VEGFC in cancerous and paracancerous tissues were examined using semiquantitative reverse transcriptionpolymerase chain reaction. Microvessel density (MVD) was counted, according to the number of cluster of differentiation 34positive cells. Spearman’s correlation analysis was utilized to analyze the association between DSCR1 and angiogenesis. The relative mRNA expression levels of DSCR1 and VEGFC, and the MVD were significantly increased in the cancerous tissue samples from the patients with hypopharyngeal cancer, compared with the paracancerous tissue samples from these patients. Higher levels of DSCR1 and increased MVD were associated with poorly differentiated tumors and lymph node metastasis. The mRNA expression levels of DSCR1 were positively correlated with the mRNA levels of VEGFC in the cancerous tissues. The protein expression levels of DSCR1 were also positively correlated with MVD in the cancerous tissues. The results indicated that DSCR1 is involved in tumor angiogenesis in patients with hypopharyngeal cancer, and is closely associated with the progression of the disease.

TÍTULO / TITLE:    - Testicular cancer in Down syndrome with spinal cord metastases.

REVISTA / JOURNAL:    - Urol Ann. 2016 Oct-Dec;8(4):503-505. doi: 10.4103/0974-7796.192109.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/0974-7796.192109

AUTORES / AUTHORS: - Almouhissen T; et al.

INSTITUCIÓN / INSTITUTION: - Department of Urology, King Abdullah Medical City, Makkah, Saudi Arabia.  

RESUMEN / SUMMARY: - A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression. The histopathology of the metastatic lesions revealed a yolk sac subtype which was identical to his primary testicular tumor.

MOLECULAR BIOLOGY/BIOCHEMISTRY - BIOLOGÍA MOLECULAR/BIOQUÍMICA

TÍTULO / TITLE:    - Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.

REVISTA / JOURNAL:    - Hum Mol Genet. 2017 Jan 13. pii: ddx016. doi: 10.1093/hmg/ddx016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/hmg/ddx016

AUTORES / AUTHORS: - Izzo A; Conti A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via Pansini 5, Naples 80131, Italy   anconti@unina.it

RESUMEN / SUMMARY: - Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1alpha/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1alpha pathway might indeed reverse this mitochondrial dysfunction.

NEUROBIOLOGY - NEUROBIOLOGÍA

TÍTULO / TITLE:    - Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction.

REVISTA / JOURNAL:    - Hum Mol Genet. 2017 Jan 9. pii: ddx007. doi: 10.1093/hmg/ddx007.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/hmg/ddx007

AUTORES / AUTHORS: - Raveau M; Yamakawa K; et al.

INSTITUCIÓN / INSTITUTION: - Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama 351-0198, Japan   yamakawa@brain.riken.jp

RESUMEN / SUMMARY: - Down syndrome is a leading cause of congenital intellectual disability caused by an additional copy of the chromosome 21. Patients display physiological and morphological changes affecting the brain and its function. Previously we showed that Ts1Cje and Ts2Cje, Down syndrome mouse models carrying overlapping trisomic segments of different length, show similar ventriculomegaly and neurogenesis dysfunction leading to the hypothesis of a cause-consequence relationship between these phenotypes. However, we here discovered that Ts1Rhr Down syndrome model, carrying an even shorter trisomic segment, was sufficient to trigger ventricular enlargement and ependymal cilia beating deficiency without affecting neurogenesis. We further found that Pcp4 gene on the Ts1Rhr trisomic segment is expressed in ependymal cells, and its resumption to two copies rescued both ventricular enlargement and cilia dysfunction in Ts1Rhr mice. This work underlines a Pcp4-dependent ciliopathy in Down syndrome brain affecting cerebrospinal fluid flow.

TÍTULO / TITLE:    - Neurons Derived from Induced Pluripotent Stem Cells of Patients with Down Syndrome Reproduce Early Stages of Alzheimer’s Disease Type Pathology in vitro.

REVISTA / JOURNAL:    - J Alzheimers Dis. 2017;56(2):835-847. doi: 10.3233/JAD-160945.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-160945

AUTORES / AUTHORS: - Dashinimaev EB; et al.,

INSTITUCIÓN / INSTITUTION: - Koltzov Institute of Developmental Biology, Russian Academy of Sciences, Moscow, Russia.  

RESUMEN / SUMMARY: - People with Down syndrome (DS) are at high risk of developing pathology similar to Alzheimer’s disease (AD). Modeling of this pathology in vitro may be useful for studying this phenomenon. In this study, we analyzed three different cultures of neural cells carrying trisomy of chromosome 21, which were generated by directed differentiation from induced pluripotent stem cells (iPS cells). We report here that in vitro generated DS neural cells have abnormal metabolism of amyloid-beta (Abeta) manifested by increased secretion and accumulation of Abeta granules of Abeta42 pathological isoform with upregulated expression of the APP gene. Additionally, we found increased expression levels of genes that are considered to be associated with AD (BACE2, RCAN1, ETS2, TMED10), as compared to healthy controls. Thus, the neural cells generated from induced pluripotent stem cells with DS reproduce initial cellular signs of AD-type pathology and can be useful tools for modeling and studying this variant of AD in vitro.

NEUROLOGY - NEUROLOGÍA

TÍTULO / TITLE:    - Diagnosis, treatment, and outcomes of infantile spasms in the Trisomy 21 population.

REVISTA / JOURNAL:    - Seizure. 2016 Dec 23;45:184-188. doi: 10.1016/j.seizure.2016.12.016.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.seizure.2016.12.016

AUTORES / AUTHORS: - Beatty CW; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, University of Washington, Division of Pediatric Neurology, Seattle Children’s Hospital, 4800 Sand Point Way NE, MB.7.420, Seattle, WA, 98105, USA.   Christopher.Beatty@seattlechildrens.org

RESUMEN / SUMMARY: - PURPOSE: To determine if there are differences in the timing of diagnosis and response to treatment between infants with infantile spasms (IS) and Trisomy 21 (T21) and those with idiopathic IS. METHOD: This was a retrospective study evaluating the time from onset of IS to diagnosis, treatment of IS, time from treatment to resolution of IS, and development of epilepsy in children with T21 and IS compared to children with idiopathic IS. RESULTS: Thirteen children with T21 and IS were identified over a 10 year period and compared to 32 children in the control group. There was no significant difference in age of onset, time between onset and diagnosis, or acute response to treatment. However, the children with idiopathic IS were more likely to go on to develop epilepsy than those with T21 and IS (41% vs. 0, p=0.006). CONCLUSION: The children with T21 and IS were diagnosed and treated similarly to those patients with idiopathic IS. There were no significant differences in the age of onset, time between the onset and diagnosis of IS, or acute treatment response of IS between the T21 and control groups. However those with T21 and IS had a lower risk of subsequent epilepsy following IS than those with idiopathic IS. IS in the T21 population appears to be inherently different from IS of unknown etiology.

TÍTULO / TITLE:    - New radiological parameters for the assessment of atlantoaxial instability in children with Down syndrome: the normal values and the risk of spinal cord injury.

REVISTA / JOURNAL:    - Bone Joint J. 2016 Dec;98-B(12):1704-1710.

Enlace a la Editora de la Revista http://dx.doi.org/10.1302/0301-620X.98B12.BJJ-2016-0018.R1

AUTORES / AUTHORS: - Nakamura N; et al.

INSTITUCIÓN / INSTITUTION: - Kanagawa Children’s Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama city, Kanagawa, 232-8555, Japan.  

RESUMEN / SUMMARY: - AIMS: To determine the normal values and usefulness of the C1/4 space available for spinal cord (SAC) ratio and C1 inclination angle, which are new radiological parameters for assessing atlantoaxial instability in children with Down syndrome. PATIENTS AND METHODS: We recruited 272 children with Down syndrome (including 14 who underwent surgical treatment), and 141 children in the control group. All were aged between two and 11 years. The C1/4 SAC ratio, C1 inclination angle, atlas-dens interval (ADI), and SAC were measured in those with Down syndrome, and the C1/4 SAC ratio and C1 inclination angle were measured in the control group. RESULTS: The mean C1/4 SAC ratio in those requiring surgery with Down syndrome, those with Down syndrome not requiring surgery and controls were 0.63 (standard deviation (sd) 0.1), 1.15 (sd 0.13) and 1.29 (sd 0.14), respectively, and the mean C1 inclination angles were -3.1 degrees (sd 10.7 degrees ), 15.8 degrees (sd 7.3) and 17.2 degrees (sd 7.3), in these three groups, respectively. The mean ADI and SAC in those with Down syndrome requiring surgery and those with Down syndrome not requiring surgery were 9.8 mm (sd 2.8) and 4.3 mm (sd 1.0), and 11.1 mm (sd 2.6) and 18.5 mm (sd 2.4), respectively. CONCLUSION: The normal values of the C1/4 SAC ratio and the C1 inclination angle were found to be about 1.2 degrees and 15 masculine, respectively. Cite this article: Bone Joint J 2016;98-B:1704-10.

TÍTULO / TITLE:    - The clinical and neurobehavioral course of Down syndrome and dementia with or without new-onset epilepsy.

REVISTA / JOURNAL:    - Epilepsy Behav. 2017 Jan 18;68:11-16. doi: 10.1016/j.yebeh.2016.12.014.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.yebeh.2016.12.014

AUTORES / AUTHORS: - Gholipour T; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Edward B. Bromfield Epilepsy Center, Brigham and Women’s Hospital, Boston, 75 Francis Street, Boston, MA 02115, USA; Department of Neurology, Massachusetts General Hospital, Boston, 55 Fruit Street, Boston, MA 02114   tgholipour@bwh.harvard.edu

RESUMEN / SUMMARY: - BACKGROUND: Adult patients with Down syndrome (DS) are at higher risk of developing Alzheimer-type dementia and epilepsy. The relationship between developing dementia and the risk of developing seizures in DS is poorly characterized to date. In addition, treatment response and medication tolerability have not been rigorously studied. METHODS: We identified 220 patients with a diagnosis of DS and dementia. Those without a history of developing seizures (DD) were compared to patients with new-onset seizures (DD+S) after the age of 35. Electronic records were reviewed for demographics, seizure characteristics, cognitive status, and psychiatric comorbidities. RESULTS: Of the patients included for analysis, twenty-six out of 60 patients had new-onset seizures or developed seizures during the follow-up period (the DD+S group) with a median onset of 2.0years after the dementia diagnosis. Generalized tonic-clonic seizures were the most common seizure type (61.5% of DD+S). Sixteen (61.5%) patients were reported to have myoclonus. Levetiracetam was the most commonly used initial medication, with the majority (73%) of patients treated achieving partial or complete seizure control. The DD+S patients tended to have a similar burden of new-onset neuropsychiatric symptoms compared to the DD group. DISCUSSION: New-onset epilepsy seems to occur early in the course of dementia in DS patients. Patients generally respond to treatment. A great burden of neuropsychiatric symptoms is seen. Future studies need to explore the relationship between beta-amyloid accumulation and epileptiform activity and attend to the care and needs of DS patients with dementia and seizures.

TÍTULO / TITLE:    - Pain and Cognitive Functioning in Adults with Down Syndrome.

REVISTA / JOURNAL:    - Pain Med. 2016 Dec 29. pii: pnw280. doi: 10.1093/pm/pnw280.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/pm/pnw280

AUTORES / AUTHORS: - de Knegt NC; et al.

INSTITUCIÓN / INSTITUTION: - Department of Clinical Neuropsychology, VU University, Amsterdam, the Netherlands   nc.de.knegt@vu.nl

RESUMEN / SUMMARY: - OBJECTIVE: The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). DESIGN, SETTING, AND SUBJECTS: Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands. METHODS: File-based medical information was evaluated. Self-reported presence and experience of pain were assessed during a test session, both in rest and after movement (affect with the facial affective scale [FAS], intensity with the numeric rating scale [NRS]). Neuropsychological tests for memory and executive functioning were used. RESULTS: Participants with lower memory scores were more likely to report the presence of pain, while controlling for age, gender, physical conditions that may cause pain, language comprehension, and vocabulary (p = .030, 58.4% classification rate, N = 154). No statistically significant associations were found between executive functioning and self-reported presence of pain or between cognitive functioning and self-reported pain experience. CONCLUSIONS: Memory seems to be related to the self-reported presence of pain in adults with DS after explicit inquiry, although the clinical use of this model is yet limited. Therefore, further research is needed for insight into the role of cognitive processes in self-report (e.g., involving aspects such as acquiescence and repeated measurements) to evaluate whether neuropsychological examination could contribute to pain assessment in DS.

OPHTALMOLOGY - OFTALMOLOGÍA

TÍTULO / TITLE:    - Determining the relative contribution of retinal disparity and blur cues to ocular accommodation in Down syndrome.

REVISTA / JOURNAL:    - Sci Rep. 2017 Jan 10;7:39860. doi: 10.1038/srep39860.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/srep39860

AUTORES / AUTHORS: - Doyle L; et al.

INSTITUCIÓN / INSTITUTION: - Biomedical Sciences Research Institute, University of Ulster, Cromore Road, Coleraine, Northern Ireland, BT52 1SA.  

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) often exhibit hypoaccommodation alongside accurate vergence. This study investigates the sensitivity of the two systems to retinal disparity and blur cues, establishing the relationship between the two in terms of accommodative-convergence to accommodation (AC/A) and convergence-accommodation to convergence (CA/C) ratios. An objective photorefraction system measured accommodation and vergence under binocular conditions and when retinal disparity and blur cues were removed. Participants were aged 6-16 years (DS n = 41, controls n = 76). Measures were obtained from 65.9% of participants with DS and 100% of controls. Accommodative and vergence responses were reduced with the removal of one or both cues in controls (p < 0.007). For participants with DS, removal of blur was less detrimental to accommodative responses than removal of disparity; accommodative responses being significantly better when all cues were available or when blur was removed in comparison to when proximity was the only available cue. AC/A ratios were larger and CA/C ratios smaller in participants with DS (p < 0.00001). This study demonstrates that retinal disparity is the main driver to both systems in DS and illustrates the diminished influence of retinal blur. High AC/A and low CA/C ratios in combination with disparity-driven responses suggest prioritisation of vergence over accurate accommodation.

ORTHOPEDICS - ORTOPEDÍA

TÍTULO / TITLE:    - New radiological parameters for the assessment of atlantoaxial instability in children with Down syndrome: the normal values and the risk of spinal cord injury.

REVISTA / JOURNAL:    - Bone Joint J. 2016 Dec;98-B(12):1704-1710.

Enlace a la Editora de la Revista http://dx.doi.org/10.1302/0301-620X.98B12.BJJ-2016-0018.R1

AUTORES / AUTHORS: - Nakamura N; et al.

INSTITUCIÓN / INSTITUTION: - Kanagawa Children’s Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama city, Kanagawa, 232-8555, Japan.  

RESUMEN / SUMMARY: - AIMS: To determine the normal values and usefulness of the C1/4 space available for spinal cord (SAC) ratio and C1 inclination angle, which are new radiological parameters for assessing atlantoaxial instability in children with Down syndrome. PATIENTS AND METHODS: We recruited 272 children with Down syndrome (including 14 who underwent surgical treatment), and 141 children in the control group. All were aged between two and 11 years. The C1/4 SAC ratio, C1 inclination angle, atlas-dens interval (ADI), and SAC were measured in those with Down syndrome, and the C1/4 SAC ratio and C1 inclination angle were measured in the control group. RESULTS: The mean C1/4 SAC ratio in those requiring surgery with Down syndrome, those with Down syndrome not requiring surgery and controls were 0.63 (standard deviation (sd) 0.1), 1.15 (sd 0.13) and 1.29 (sd 0.14), respectively, and the mean C1 inclination angles were -3.1 degrees (sd 10.7 degrees ), 15.8 degrees (sd 7.3) and 17.2 degrees (sd 7.3), in these three groups, respectively. The mean ADI and SAC in those with Down syndrome requiring surgery and those with Down syndrome not requiring surgery were 9.8 mm (sd 2.8) and 4.3 mm (sd 1.0), and 11.1 mm (sd 2.6) and 18.5 mm (sd 2.4), respectively. CONCLUSION: The normal values of the C1/4 SAC ratio and the C1 inclination angle were found to be about 1.2 degrees and 15 masculine, respectively. Cite this article: Bone Joint J 2016;98-B:1704-10.

PHYSIOTHERAPY - FISIOTERAPIA

TÍTULO / TITLE:    - Changes in objectively measured physical activity in adolescents with Down syndrome: the UP&DOWN longitudinal study.

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2017 Jan 16. doi: 10.1111/jir.12354.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12354

AUTORES / AUTHORS: - Izquierdo-Gomez R; Martinez-Gomez D; et al.

INSTITUCIÓN / INSTITUTION: - Department of Physical Education, Sports and Human Movement, Autonomous University of Madrid, Madrid, España.  

RESUMEN / SUMMARY: - BACKGROUND: It is a priority to understand that physical activity behaviour over time is a priority in Down syndrome population in order to design and promote succesfull interventions to maintain or increase levels of physical activity. We aimed to study 1 and 2-year changes in objectively measured physical activity among a relatively large sample of adolescents with Down syndrome. METHODS: This study comprised a total of 99 adolescents with Down syndrome (38 girls) aged from 11 to 20 years old at baseline. Participants with valid accelerometer data at baseline and at least one of the follow-up visits were included in the analysis. RESULTS: Overall, levels of physical activity observed in adolescents with Down syndrome declined from baseline to follow-ups, but these changes were not significant (all P > 0.05). Moderate-to-moderately high tracking of physical activity was observed in adolescents with Down syndrome (all P < 0.001). Youths who met physical activity guidelines at baseline demonstrated a greater decline in physical activity in 1 and 2-year changes (P < 0.05), although they were also more likely to meet physical activity guidelines at 1 and 2-year follow-ups (P < 0.05). CONCLUSIONS: Adolescents with Down syndrome do not change their levels of physical activity at 2-year follow-ups, but those who met physical activity guidelines presented stronger declines in physical activity over time.

TÍTULO / TITLE:    - Minimal Detectable Change for TUG and TUDS Tests for Children With Down Syndrome.

REVISTA / JOURNAL:    - Pediatr Phys Ther. 2017 Jan;29(1):77-82.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/PEP.0000000000000333

AUTORES / AUTHORS: - Martin K; et al.

INSTITUCIÓN / INSTITUTION: - Krannert School of Physical Therapy, University of Indianapolis, Indiana.  

RESUMEN / SUMMARY: - PURPOSE: To determine test-retest reliability and minimal detectable change of the Timed Up and Go (TUG) and Timed Up and Down Stairs (TUDS) for Down syndrome. SUBJECTS: Twelve children with Down syndrome (DS) aged 3 to 17 years. METHODS: Two sessions, 1 week apart, with 3 trials of the TUG and 2 trials of the TUDS. Test-retest reliability was estimated using intraclass correlation coefficients and the standard error of measurement. The minimal detectable changes (MDCs) for both tests were calculated. RESULTS: The TUG and TUDS tests both had high test-retest reliability. The MDC was 1.26 seconds for the TUG and 12.52 seconds for the TUDS test. CONCLUSIONS: Both tests were reliable in this population, but the MDC results suggest only the TUG is clinically useful.

TÍTULO / TITLE:    - Effects of detraining on anthropometry, aerobic capacity and functional ability in adults with Down syndrome.

REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2017 Jan 24. doi: 10.1111/jar.12327.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jar.12327

AUTORES / AUTHORS: - Boer PH;

INSTITUCIÓN / INSTITUTION: - Physical Activity, Sport and Recreation (PhASRec), Potchefstroom, South Africa.  

RESUMEN / SUMMARY: - BACKGROUND: Structured exercise has shown to improve parameters of functional fitness in adults with Down syndrome (DS). However, few, if any, continue to exercise after exercise intervention studies. Consequently, the purpose of this study was to determine the effects of detraining on anthropometry, aerobic capacity and functional ability of adults with DS. METHODS: In a previous study, forty-two participants either performed 12 weeks of interval training, continuous aerobic training or no training (CON). After 3 months of detraining, the same participants were tested again for anthropometry, aerobic capacity, leg strength and functional ability. RESULTS: Significant reductions in maximal aerobic capacity, time to exhaustion and both functional test items were reported for both exercise groups compared to CON (p < .05). No significant differences were reported between the exercise groups concerning aerobic and functional capacity reductions. CONCLUSION: Detraining occurred significantly in both exercise groups regarding parameters associated with aerobic and functional capacity.

TÍTULO / TITLE:    - Importance of Initiating a “Tummy Time” Intervention Early in Infants With Down Syndrome.

REVISTA / JOURNAL:    - Pediatr Phys Ther. 2017 Jan;29(1):68-75.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/PEP.0000000000000335

AUTORES / AUTHORS: - Wentz EE;

INSTITUCIÓN / INSTITUTION: - The University of Michigan, Ann Arbor.  

RESUMEN / SUMMARY: - PURPOSE: This study compared differences in motor development in infants with Down syndrome beginning a tummy time intervention before 11 weeks of age and after 11 weeks of age. METHODS: Nineteen infants with Down syndrome participated in tummy time until they could independently transition in and out of sitting. Motor development was assessed monthly using the Bayley III Motor Scales and compared between the groups. RESULTS: A difference in motor development between early and late groups is apparent 1, 2, and 3 months following intervention initiation. CONCLUSION: Early implemented tummy time was effective in reducing motor delay in young infants with Down syndrome and is a prudent first step in intervention.

TÍTULO / TITLE:    - A case report with the peculiar concomitance of 2 different genetic syndromes.

REVISTA / JOURNAL:    - Medicine (Baltimore). 2016 Dec;95(49):e5567.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MD.0000000000005567

AUTORES / AUTHORS: - Lerario A; et al

INSTITUCIÓN / INSTITUTION: - Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan  

RESUMEN / SUMMARY: - RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period. DIAGNOSES: Skeletal muscle biopsy revealed marked dystrophic changes with patchy immunostaining for dystrophin. The Duchenne muscular dystrophy gene was screened for deletions by multiplex polymerase chain reaction, but no mutations were found. Sequence analysis of the Duchenne muscular dystrophy gene revealed a splice-site mutation c.1812+1G>A in intron 15 and confirmed a diagnosis of Becker muscular dystrophy. INTERVENTIONS: The patient has started a specific physiotherapy that avoided any deterioration in motor development and muscular wasting. OUTCOMES: A multidisciplinary follow-up was initiated. The genetician that followed the patient for DS was supported by the neurologist, the physiotherapist, the pulmonologist, and the cardiologist. LESSONS: This peculiar “double trouble” case exemplifies the value of careful clinical evaluation and adequate clinical experience to identify the concomitance of 2 different genetic syndromes in the same patient, and it points out the significance of muscular strength assessment in DS patients to make the most correct prognosis, and, consequently, to organize the best long-term care.

PRENATAL DIAGNOSIS - DIAGNÓSTICO

TÍTULO / TITLE:    - Reflections on a Prenatal Diagnosis of Trisomy 21 Syndrome.

REVISTA / JOURNAL:    - JAMA. Free access to the article (immediately). http://jama.ama-assn.org/search.dtl

Enlace a la Editora de la Revista http://dx.doi.org/10.1001/jamapediatrics.2016.2810

AUTORES / AUTHORS: - Davis A;

INSTITUCIÓN / INSTITUTION: - AnMed Health Family Medicine Residency Program, Anderson, South Carolina.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:    - Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA.

REVISTA / JOURNAL:    - Prenat Diagn. 2016 Dec 22. doi: 10.1002/pd.4992.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.4992

AUTORES / AUTHORS: - Uquillas K; et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Southern California/Keck School of Medicine, Los Angeles, CA, USA.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:    - A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down’s syndrome with conventional non-invasive testing technology.

REVISTA / JOURNAL:    - Exp Biol Med (Maywood). 2017 Mar;242(5):547-553. doi: 10.1177/1535370216683837. Epub 2017 Jan 5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1177/1535370216683837

AUTORES / AUTHORS: - Hu H; et al

INSTITUCIÓN / INSTITUTION: - 1 Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.  

RESUMEN / SUMMARY: - To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down’s syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down’s syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples. Partial high-risk pregnant women identified by primary blood testing (n = 38) were also subject to the secondary cfDNA screening. Diagnostic amniocentesis was utilized to confirm the screening results. The true positive rate for Down’s syndrome detection was 100% for both blood screening methods; however, the false-positive rate was 3.0% for DBS and 4.0% for serum screening, respectively. DBS correlated well with serum screening on Down’s syndrome detection. Three out of 38 primary high-risk women displayed chromosomal abnormalities by cfDNA analysis, which were confirmed by amniocentesis. Either the true detection rate or the false-positive rate for Down’s syndrome between DBS and the serum test is comparable. In addition, blood primary screening aligned with secondary cfDNA analysis, a “before and after” two-tier screening strategy, can massively decrease the false-positive rate, which, then, dramatically reduces the demand for invasive diagnostic operation. Impact statement Children born with Down’s syndrome display a wide range of mental and physical disability. Currently, there is no effective treatment to ease the burden and anxiety of the Down’s syndrome family and the surrounding society. This study is to evaluate the efficiency of dried blood spots against serum screening for Down’s syndrome and to construct a two-tier strategy by topping up the fetal cell-f

TÍTULO / TITLE:    - A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome.

REVISTA / JOURNAL:    - J Genet Couns. 2016 Dec 29. doi: 10.1007/s10897-016-0061-8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s10897-016-0061-8

AUTORES / AUTHORS: - Reed AR; Berrier KL.

INSTITUCIÓN / INSTITUTION: - Department of Writing Arts, Rowan University, 142 Bozorth Hall, Glassboro, NJ, 08028, USA   reeda@rowan.edu

RESUMEN / SUMMARY: - Previous research has identified twenty-six factors that may affect pregnancy management decisions following prenatal diagnosis of DS; however, there is no consensus about the relative importance or effects of these factors. In order to better understand patient decision-making, we conducted expansive cognitive interviews with nine former patients who received a prenatal diagnosis of DS. Our results suggest that patients attached unique meanings to factors influencing decision-making regardless of the pregnancy outcome. Nineteen of the twenty-six factors previously studied and four novel factors (rationale for testing, information quality, pregnancy experience, and perception of parenting abilities and goals) were found to be important to decision-making. We argue that qualitative studies can help characterize the complexity of decision-making following prenatal diagnosis of DS.

TÍTULO / TITLE:    - Noninvasive Prenatal Diagnosis Significance of ERG Methylation as a Biomarker in Down’s Syndrome.

REVISTA / JOURNAL:    - Med Sci Monit. 2017 Jan 23;23:398-404.

AUTORES / AUTHORS: - Liu X; Xue M

INSTITUCIÓN / INSTITUTION: - Genetics Diagnostic Lab, Tai’an Maternity and Child Care Hospital, Tai’an, Shandong, China (mainland).  

RESUMEN / SUMMARY: - BACKGROUND Down’s syndrome (DS) is a genetic disease with chromosome abnormality due to the increasing chromosome 21. This study focused on the clinical application value of ERG methylation level in blood of pregnant women as a biomarker in Down’s syndrome. MATERIAL AND METHODS The sham group consisted of 210 nonpregnant women, the positive control group consisted of 33 women with a delivery history of DS fetus, and the negative control group consisted of 60 women with eutocia history. A combination of restriction enzyme digestion experiment and PCR was performed to examine ERG methylation levels, methylation sites, and distribution in blood of pregnant women and in chorion tissues from abortion samples. Gene sequencing was performed to determine the ERG sequence in chromosome 21. Homology between normal tissues and chorion tissues from abortion samples was analyzed with bioinformatics technology. RESULTS ERG methylation in chorion tissues from 210 abortion samples at 8, 9, and 10 weeks gestational age were determined; however, no ERG methylation was determined in blood of pregnant women. Gene sequencing indicated that normal ERG sequence in chromosome 21 was in fetus chorion tissues, and these ERG sequences were aberrantly methylated. Bioinformatics result showed that homology and DNA methylation level was discrepancy in normal tissues and chorion tissues from abortion samples. CONCLUSIONS It was worthwhile to use ERG methylation as biomarker in noninvasive prenatal diagnosis, and ERG methylation should be applied with consent of pregnancy and her relatives.

TÍTULO / TITLE:    - Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

REVISTA / JOURNAL:    - J Obstet Gynaecol. 2016 Dec 25:1-6. doi: 10.1080/01443615.2016.1250730.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/01443615.2016.1250730

AUTORES / AUTHORS: - Ma K; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Pediatric Emergency , First Hospital of Jilin University , Changchun , Jilin , China.  

RESUMEN / SUMMARY: - We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

TÍTULO / TITLE:    - First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public health system?

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2017 Jan 4:1-6. doi: 10.1080/14767058.2016.1268593.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2016.1268593

AUTORES / AUTHORS: - Colosi E; et al.

INSTITUCIÓN / INSTITUTION: - a Center for Reproductive Medicine and BirthCare Program, Hospital Misericordia, Azienda USL Toscana Sud Est , Grosseto , Italy.  

RESUMEN / SUMMARY: - PURPOSE: To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs. MATERIAL AND METHODS: We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20,831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A (Combined test). On the basis of our data, we estimated the performance and cost of screening for trisomies using three different models at specific cutoffs: Combined test; Cell free DNA test and Contingent screening test. RESULTS: Using Combined test, DR for major trisomies was estimated to be 94.92%, invasive test rate was 6.3%. cfDNA would result in a DR of 97.92%, with an invasive test rate of 3.64%. Contingent screening approach would result in an overall DR of 97.82, with a rate for invasive procedure of 1.36% and a final cost lower than other screening policies (2,338,433 euro vs 5,796,060 of cfDNA and 2,385,473 of Combined test). CONCLUSIONS: Contingent screening test could be a cost-efficient and feasible first trimester screening test for aneuploidies in public health system.

PSYCHIATRY - PSIQUIATRÍA

TÍTULO / TITLE:    - Advances in developmental neuropsychiatry: autism spectrum disorder, Cornelia De Lange syndrome, self-injurious behavior, Down syndrome, fetal alcohol spectrum disorder, and borderline intellectual fu

REVISTA / JOURNAL:    - Curr Opin Psychiatry. 2017 Mar;30(2):65-68. doi: 10.1097/YCO.0000000000000318.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/YCO.0000000000000318

AUTORES / AUTHORS: - Harris JC;

INSTITUCIÓN / INSTITUTION: - Developmental Neuropsychiatry Clinic, The Johns Hopkins University School of Medicine, Bloomberg Children’s Center, Orleans Street, Baltimore, Maryland, USA.  

RESUMEN / SUMMARY: -

QUALITY OF LIFE - CALIDAD DE VIDA

TÍTULO / TITLE:    - Health-related Quality of Life (HR-QOL) and Chronic Health Conditions in Survivors of Childhood Acute Myeloid Leukemia (AML) with Down Syndrome (DS): A Report From the Children’s Oncology Group.

REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2017 Jan;39(1):20-25.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MPH.0000000000000707

AUTORES / AUTHORS: - Schultz KA; et al.

INSTITUCIÓN / INSTITUTION: - Cancer and Blood Disorders, Children’s Hospitals and Clinics of Minnesota, HealthPartners Institute for Education & Research.Department of Pediatrics, University of Minnesota, Minneapolis, MN.  

RESUMEN / SUMMARY: - Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived >/=5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8.3 to 27.6 y). Participants with DS and AML were compared with AML survivors without DS whose caregiver completed a HR-QOL survey (CHQ-PF50). In total, 77% of survivors with DS reported >/=1 chronic health condition compared with 50% of AML survivors without DS (P=0.07). Mean physical and psychosocial QOL scores for children with DS and AML were statistically lower than the population mean, though not discrepant from AML survivors without DS. Although the overall prevalence of chronic health conditions in survivors with DS is higher than in survivors without DS, prior studies of children with DS have reported similarly high rates of chronic health conditions, suggesting that AML therapy may not substantially increase this risk.

TÍTULO / TITLE:    - Long-time sickness absence among parents of pre-school children with cerebral palsy, spina bifida and down syndrome: a longitudinal study.

REVISTA / JOURNAL:    - BMC Pediatr. 2017 Jan 18;17(1):26. doi: 10.1186/s12887-016-0774-8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12887-016-0774-8

AUTORES / AUTHORS: - Brekke I; et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Health Sciences - Department of Nursing and Health Promotion, Oslo and Akershus University College of Applied Sciences, Post Box 4, St. Olavs plass, N-0130, Oslo, Norway.   idunn.brekke@hioa.no

RESUMEN / SUMMARY: - BACKGROUND: Taking care of a child with special needs can be draining and difficult and require a lot of parental time and resources. The present study investigated the long-term sickness absence of parents who have children with spina bifida, cerebral palsy and Down syndrome compared to that of parents without a child with special needs. METHODS: The sample consisted of primiparae women who gave birth between 2001 and 2005 and the fathers of the children (N = 202,593). Data were obtained from the Medical Birth Registry of Norway (MBRN), which is linked to the Central Population Register, education and income registries and Historical Event Database (FD-Trygd) of Statistics Norway (SSB). The linkage data provide longitudinal data, together with annual updates on children and their parents. Statistical analyses were performed using difference-in-difference (DD) study design. RESULTS: Caring for a child with special needs affected maternal sickness absence, particularly in the first year after the birth. The level of sickness absence of mothers caring for a child with spina bifida and cerebral palsy was greater than that of mothers caring for a child with Down syndrome. In contrast, the sickness absence of fathers caring for a child with special needs was, on average, comparable to that of fathers without a special-needs child in the post-birth period. CONCLUSIONS: Caring for a child with special needs affected the long-term sickness absence of mothers but not fathers. The findings indicate that the burden of care in the case of children with special needs falls especially on the mother.

TÍTULO / TITLE:    - Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Mar;173(3):627-637. doi: 10.1002/ajmg.a.38050. Epub 2016 Dec 14.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38050

AUTORES / AUTHORS: - Kageleiry A; Skotko BG; et al.

INSTITUCIÓN / INSTITUTION: - Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts  

RESUMEN / SUMMARY: - Prior analyses have estimated the lifetime total societal costs of a person with Down syndrome (DS); however, no studies capture the expected medical costs that patients with DS can expect to incur during childhood. The study utilized the OptumHealth Reporting and Insights administrative claims database from 1999 to 2013. Children with a diagnosis of DS were identified, and their time was divided into clinically relevant age categories. Patients with DS in each age category were matched to controls without chromosomal conditions. Out-of-pocket medical costs and third-party expenditures were compared between the patient-age cohorts with DS and matched controls. Patients with DS had significantly higher mean annual out-of-pocket costs than their matched controls within each age and cost category. Total annual incremental out-of-pocket costs associated with DS were highest among individuals from birth to age 1 ($1,907, P < 0.001). The main drivers of the incremental out-of-pocket costs associated with DS were inpatient costs in the 1st year of life ($925, P < 0.001) and outpatient costs in later years (ranging $183-$623, all P < 0.001). Overall, patients with DS incurred incremental out-of-pocket medical costs of $18,248 between birth and age 18 years; third-party payers incurred incremental costs of $230,043 during the same period. Across all age categories, mean total out-of-pocket annual costs were greater for individuals with DS than those of matched controls. On average, parents of children with DS pay an additional $84 per month for out-of-pocket medical expenses when costs are amortized over 18 years. © 2016 Wiley Periodicals, Inc.

TÍTULO / TITLE:    - Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome.

REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2017 Feb/Mar;38(2):161-168. doi: 10.1097/DBP.0000000000000385.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/DBP.0000000000000385

AUTORES / AUTHORS: - Murphy N; et al.

INSTITUCIÓN / INSTITUTION: - *Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia  

RESUMEN / SUMMARY: - OBJECTIVE: There are many challenges to health, functioning, and participation for children with Down syndrome; yet, the quality-of-life (QOL) domains important for this group have never been clearly articulated. This study investigated parental observations to identify QOL domains in children with Down syndrome and determined whether domains differed between children and adolescents. METHODS: The sample comprised 17 families whose child with Down syndrome was aged 6 to 18 years. Primary caregivers took part in semistructured telephone interviews to explore aspects of their child’s life that were satisfying or challenging. Qualitative thematic analysis was implemented using a grounded theory framework to identify domains. The coded data set was divided into 2 groups (childhood and adolescence) at 3 age cut points to observe whether differences existed between the coded domains and domain elements: (1) 6 to 11 years with 12 to 18 years; (2) 6 to 13 years with 14 to 18 years; and (3) 6 to 15 years with 16 to 18 years. RESULTS: Eleven domains were identified: physical health, behavior and emotion, personal value, communication, movement and physical activity, routines and predictability, independence and autonomy, social connectedness and relationships, variety of activities, nature and outdoors, and access to services. No differences in domains and domain elements were identified across childhood and adolescence. CONCLUSION: Our data form a preliminary framework from which to design investigations of the child’s perspectives on life quality and suggest a range of necessary supports and services.

TÍTULO / TITLE:    - Differences in mortality characteristics in neonates with Down’s syndrome.

REVISTA / JOURNAL:    - J Perinatol. 2017 Jan 12. doi: 10.1038/jp.2016.246.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/jp.2016.246

AUTORES / AUTHORS: - Cua CL; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Heart Center, Nationwide Children’s Hospital, Columbus Children’s Hospital, Columbus, OH, USA.  

RESUMEN / SUMMARY: - OBJECTIVE: Neonates with Down’s syndrome (nDS) may have multiple medical issues that place them at increased risk for mortality during the newborn period. Goal of this study was to determine if there are differences in baseline characteristics, medical complications or procedures performed during hospitalization between nDS who survived versus those who died during initial hospitalization. STUDY DESIGN: Data from 2000 to 2014 were reviewed using the Pediatric Health Information Systems (PHIS) database on all DS patients admitted to the hospital <30 days postnatal life. Baseline demographics, medical complications, procedures performed and mortality were recorded. Patients were divided into nDS patients who were discharged alive (nDS-a) versus nDS patients who died (nDS-d). Multivariate logistic analysis with odds ratios was performed to determine significant predictors of death. A P<0.05 was considered significant. RESULTS: A total of 5737 nDS were evaluated. Overall mortality was 7.5% (431/5737). nDS-d were more likely than nDS-a to have a lower birth weight (1.0 (0.9 to 1.0)), presence of a diaphragmatic hernia (6.9 (1.9 to 25.1), or a cardiac diagnosis of a pulmonary venous abnormality (6.8 (1.9 to 24.4)), Ebstein’s anomaly (3.2 (1.2 to 8.5)) or left-sided obstructive lesion (2.0 (1.3 to 3.0). nDS-d were more likely to develop hydrops (5.7 (3.5 to 9.5)) and necrotizing enterocolitis (1.7 (1.2 to 2.6)). In addition, nDS-d had significantly higher odds of requiring mechanical ventilation (20.7 (9.9 to 43.1)) or extracorporeal membrane oxygenation (8.7 (4.7 to 16.1)). CONCLUSIONS: A number of characteristics, specifically certain cardiac diagnosis, place nDS at increased risk for mortality. Furthermore, development of specific medical complications or need for particular procedures increases the odds for mortality in nDS. Caregivers should be cognizant that they are taking care of a high-risk population nDS with an increased risk for mortality if these variables are

TÍTULO / TITLE:    - Morbidity profile among adolescents with Down syndrome.

REVISTA / JOURNAL:    - Rev Med Chil. 2016 Aug;144(8):998-1005.

Enlace a la Editora de la Revista http://dx.doi.org/10.4067/S0034-98872016000800006

AUTORES / AUTHORS: - Cardenas A, Lizama M et al.

INSTITUCIÓN / INSTITUTION: - División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile.  

RESUMEN / SUMMARY: - BACKGROUND: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). AIM: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. MATERIAL AND METHODS: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. RESULTS: The mean age at the last consultation was 13 +/- 3 years. Ninety-eight percent of patients had a chronic condition: 37.1% where overweight or obese, 58.2% had a congenital heart disease, 11.9% where being evaluated or had the diagnosis of autism and 44.8% had hypothyroidism. Pubertal development was consistent with chronologic age in 93.7% of patients. In three patients puberty had been suppressed. In women, average age of menarche was 12.2 +/- 1.1 years. There were no deaths reported. CONCLUSIONS: There was a high rate of comorbidities in this group of adolescents with DS, most of them with frequencies comparable to those reported in literature.

TÍTULO / TITLE:    - Pain and Cognitive Functioning in Adults with Down Syndrome.

REVISTA / JOURNAL:    - Pain Med. 2016 Dec 29. pii: pnw280. doi: 10.1093/pm/pnw280.

Enlace a la Editora de la Revista http://dx.doi.org/10.1093/pm/pnw280

AUTORES / AUTHORS: - de Knegt NC; et al.

INSTITUCIÓN / INSTITUTION: - Department of Clinical Neuropsychology, VU University, Amsterdam, the Netherlands   nc.de.knegt@vu.nl

RESUMEN / SUMMARY: - OBJECTIVE: The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). DESIGN, SETTING, AND SUBJECTS: Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands. METHODS: File-based medical information was evaluated. Self-reported presence and experience of pain were assessed during a test session, both in rest and after movement (affect with the facial affective scale [FAS], intensity with the numeric rating scale [NRS]). Neuropsychological tests for memory and executive functioning were used. RESULTS: Participants with lower memory scores were more likely to report the presence of pain, while controlling for age, gender, physical conditions that may cause pain, language comprehension, and vocabulary (p = .030, 58.4% classification rate, N = 154). No statistically significant associations were found between executive functioning and self-reported presence of pain or between cognitive functioning and self-reported pain experience. CONCLUSIONS: Memory seems to be related to the self-reported presence of pain in adults with DS after explicit inquiry, although the clinical use of this model is yet limited. Therefore, further research is needed for insight into the role of cognitive processes in self-report (e.g., involving aspects such as acquiescence and repeated measurements) to evaluate whether neuropsychological examination could contribute to pain assessment in DS.

TÍTULO / TITLE:    - Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in southern Thailand.

REVISTA / JOURNAL:    - World J Pediatr. 2017 Jan 19. doi: 10.1007/s12519-016-0093-z.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s12519-016-0093-z

AUTORES / AUTHORS: - Jaruratanasirikul S; et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Thailand.   somchit.j@psu.ac.th

RESUMEN / SUMMARY: - BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in southern Thailand, were regularly followed-up every 3-6 months. The data collection form included the infants’ demographic data, associated congenital anomalies, and developmental interventions. RESULTS: The DS infants were born at an average gestational age of 38.5+/-2.3 weeks with average birth weight of 2760+/-478 g, length 48.5+/-2.2 cm, and head circumference 32.7+/-1.2 cm. Congenital heart diseases, gastrointestinal defects and congenital hypothyroidism were found in 43.0%, 6.7%, and 12.1% of the cases, respectively. The percentage of DS infants who received developmental interventions in this current study were significantly greater than in a previous study covering the years 1992-2002: early stimulation program 90.0% vs. 65.6% (P<0.01), and speech training program 74.8% vs. 38.9% (P<0.01), respectively, and the infants in our study began intervention programs significantly earlier, 0.58+/-0.39 years vs. 1.69+/-0.66 years, respectively. CONCLUSION: Congenital heart disease was the most common comorbidity associated with DS. The coverage of health care services and developmental interventions for DS children has generally improved in southern Thailand. One hundred percent coverage of health services and interventions for children with special needs is expected in the near future.

RESPIRATORY - RESPIRATORIO

TÍTULO / TITLE:    - A predictive model for obstructive sleep apnea and Down syndrome.

REVISTA / JOURNAL:    - Am J Med Genet A. 2017 Jan 26. doi: 10.1002/ajmg.a.38137.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/ajmg.a.38137

AUTORES / AUTHORS: - Skotko BG; et al.

INSTITUCIÓN / INSTITUTION: - Down Syndrome Program, Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.;  

RESUMEN / SUMMARY: - Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1-4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3-24 years. Exclusion criteria included previous adenoid and/or tonsil removal, a sleep study within the past 6 months, or being treated for apnea with continuous positive airway pressure. This study involved a physical examination/medical history, lateral cephalogram, 3D photograph, validated sleep questionnaires, an overnight polysomnogram, and urine samples. The main outcome measure was the apnea-hypopnea index. Using a Logic Learning Machine, the best model had a cross-validated negative predictive value of 73% for mild obstructive sleep apnea and 90% for moderate or severe obstructive sleep apnea; positive predictive values were 55% and 25%, respectively. The model included variables from survey questions, medication history, anthropometric measurements, vital signs, patient’s age, and physical examination findings. With simple procedures that can be collected at minimal cost, the proposed model could predict which patients with DS were unlikely to have moderate to severe obstructive sleep apnea and thus may not need a diagnostic sleep study.

TÍTULO / TITLE:    - Prevalence and predictors of obstructive sleep apnoea in young children with Down syndrome.

REVISTA / JOURNAL:    - Sleep Med. 2016 Nov - Dec;27-28:99-106. doi: 10.1016/j.sleep.2016.10.001. Epub 2016 Oct 22.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.sleep.2016.10.001

AUTORES / AUTHORS: - Hill CM; et al.

INSTITUCIÓN / INSTITUTION: - University of Southampton, UK; Southampton Children’s Hospital, Southampton University Hospitals NHS Trust, UK.   cmh2@soton.ac.uk

RESUMEN / SUMMARY: - BACKGROUND: Children with Down syndrome (DS) are vulnerable to obstructive sleep apnoea (OSA) because of their unique craniofacial anatomy and hypotonia. Understanding the predictors of OSA in DS may enable targeted screening. METHODS: Children with DS (n = 202) aged from six months to below six years (110 boys) were recruited from three UK children’s hospitals. The clinical assessment included height, weight and tonsillar size. The parents either set up cardiorespiratory polygraphy at home or chose laboratory studies. Studies with less than four hours of interpretable data were repeated where possible. American Academy of Sleep Medicine (AASM) 2012 scoring criteria were used to derive an obstructive apnoea/hypopnoea index (OAHI). Predictors of moderate to severe OSA were examined. RESULTS: In total, 188/202 (93%) participants were successfully studied. Of these, 169 studies were completed at home and 19 in a sleep laboratory. Moderate to severe OSA, defined by an OAHI of >5/h, was found in 14% and mild to moderate OSA (1/h>/=OAHI <5/h) was found in 59% of the children. Male gender and habitual snoring predicted OSA but did not have independent predictive power in the presence of the other factors. Age in months, body mass index (BMI) centile and tonsillar size did not predict OSA. CONCLUSIONS: Moderate to severe OSA is common in very young children with DS. Examination of tonsillar size did not predict OSA severity. Population-based screening for OSA is recommended in these children, and domiciliary cardiorespiratory polygraphy is an acceptable screening approach. Further research is required to understand the natural history, associated morbidity, optimal screening methodology and treatment modality for OSA in these children.

THERAPEUTICS - TERAPÉUTICA

TÍTULO / TITLE:    - Fetal therapy for Down syndrome: an ethical exploration.

REVISTA / JOURNAL:    - Prenat Diagn. 2016 Dec 22. doi: 10.1002/pd.4995.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.4995

AUTORES / AUTHORS: - de Wert G; et al.

INSTITUCIÓN / INSTITUTION: - Department of Health, Ethics & Society, School for Oncology and Developmental Biology (GROW), School for Public Health and Primary Care (CAPHRI), Maastricht University, Maastricht, The Netherlands.  

RESUMEN / SUMMARY: - BACKGROUND: Parallel to recent advances in prenatal screening for Down syndrome (DS), therapies for different aspects of the condition have become available. As intellectual disability is a key aspect, this is an active area for research. Several groups have hypothesized that prenatal interventions will give better chances at improving cognitive functioning in persons with DS than postnatal treatment. Clinical trials are being developed. METHOD: We first discuss the ethical pros and cons of trying to improve cognitive functioning in persons with DS to see if there are categorical objections to the general idea, and then move on to explore ethically relevant aspects of the prospect of developing fetal therapy for DS (FTDS). RESULTS: Only on the basis of a one-dimensional emphasis on the social model of disability would (fetal) therapy aimed at cognitive improvement be inherently problematic. CONCLUSIONS: Inviting pregnant women to participate in FTDS-research should be based on adequate pre-clinical trials, as well as information aimed at avoiding the so-called ‘therapeutic misconception’. Should FTDS be proven to be effective and safe, women carrying a fetus with trisomy 21 who have decided to continue the pregnancy may have a moral obligation to make use of this option.

URINARY/RENAL - URINARIO/RENAL

TÍTULO / TITLE:    - Testicular cancer in Down syndrome with spinal cord metastases.

REVISTA / JOURNAL:    - Urol Ann. 2016 Oct-Dec;8(4):503-505. doi: 10.4103/0974-7796.192109.

Enlace a la Editora de la Revista http://dx.doi.org/10.4103/0974-7796.192109

AUTORES / AUTHORS: - Almouhissen T; et al.

INSTITUCIÓN / INSTITUTION: - Department of Urology, King Abdullah Medical City, Makkah, Saudi Arabia.  

RESUMEN / SUMMARY: - A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression. The histopathology of the metastatic lesions revealed a yolk sac subtype which was identical to his primary testicular tumor.

EDUCATION - EDUCACIÓN

TÍTULO / TITLE:    - Learning potential and cognitive abilities in preschool boys with fragile X and Down syndrome.

REVISTA / JOURNAL:    - Res Dev Disabil. 2017 Jan;60:153-161. doi: 10.1016/j.ridd.2016.12.001. Epub 2016 Dec 13.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ridd.2016.12.001

AUTORES / AUTHORS: - Valencia-Naranjo N; Robles-Bello MA

INSTITUCIÓN / INSTITUTION: - Psychology Departament, University of Jaen, España.   nnaranjo@ujaen.es

RESUMEN / SUMMARY: - BACKGROUND: Enhancing cognitive abilities is relevant when devising treatment plans. AIMS: This study examined the performance of preschool boys with Down syndrome and fragile X syndrome in cognitive tasks (e.g., nonverbal reasoning and short-term memory), as well as in improving cognitive functions by means of a learning potential methodology. METHODS AND PROCEDURES: The basic scales corresponding to the Skills and Learning Potential Preschool Scale were administered to children with Down syndrome and others with fragile X syndrome, matched for chronological age and nonverbal cognitive development level. RESULTS: The fragile X syndrome group showed stronger performance on short-term memory tasks than the Down syndrome group prior to intervention, with no differences recorded in nonverbal reasoning tasks. In addition, both groups’ cognitive performance improved significantly between pre- and post-intervention. However, learning potential relative to auditory memory was limited in both groups, and for rule-based categorization in Down syndrome children. CONCLUSION: The scale offered the opportunity to assess young children’s abilities and identify the degree of cognitive modifiability. Furthermore, factors that may potentially affect the children’s performance before and during learning potential assessment are discussed.

TÍTULO / TITLE:    - Mother-Child Play: A Comparison of Autism Spectrum Disorder, Down Syndrome, and Typical Development.

REVISTA / JOURNAL:    - Front Psychol. 2016 Nov 22;7:1829. eCollection 2016.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpsyg.2016.01829

AUTORES / AUTHORS: - Bentenuto A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Cognitive Science, University of Trento Rovereto, Italy.  

RESUMEN / SUMMARY: - The purpose of the present study was to analyze mother-child collaborative play in children with Autism Spectrum Disorders (ASD) compared to children with Down Syndrome (DS) and typical developing children (TD). Children with ASD are often described as having deficient play skills, particularly in the symbolic domain. Caregivers’ involvement in child play activities increases the structural complexity of playing in both typically developing children and children with disabilities. Participants included 75 mothers and their children with ASD (n = 25), with down syndrome (n = 25) and with typical development (n = 25). Mother-child play sessions were analyzed using a coding system for exploratory and symbolic play. Results indicated that children with ASD showed more exploratory play compared to children in the other groups. No significant differences emerged between the three groups for child symbolic play or for mother play. These findings are discussed in relation to the debate about functional and symbolic play in children with ASD and in relation to the importance of setting and age for play assessment.

TÍTULO / TITLE:    - Parenting of children with Down syndrome compared to fragile X syndrome.

REVISTA / JOURNAL:    - Dev Neurorehabil. 2016 Dec 7:1-4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/17518423.2016.1259274

AUTORES / AUTHORS: - Sterling A; Warren SF

INSTITUCIÓN / INSTITUTION: - a Department of Communication Sciences and Disorders , University of Wisconsin-Madison , Madison , WI , USA.  

RESUMEN / SUMMARY: - Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children’s communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child’s attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children’s developmental needs.
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