A5075350769- Down syndrome and intellectual disability research
- Genetics and Neurodevelopmental Disorders
- Diabetes and associated disorders
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Immunodeficiency and Autoimmune Disorders
- SARS-CoV-2 and COVID-19 Research
- Genomic variations and chromosomal abnormalities
- Frailty in Older Adults
- Chronic Disease Management Strategies
- Epigenetics and DNA Methylation
- Folate and B Vitamins Research
- Prenatal Screening and Diagnostics
- Esophageal and GI Pathology
- interferon and immune responses
- Genetic factors in colorectal cancer
- Neonatal Respiratory Health Research
- Cellular transport and secretion
- Galectins and Cancer Biology
- Dementia and Cognitive Impairment Research
- COVID-19 Clinical Research Studies
- Congenital Heart Disease Studies
- Attention Deficit Hyperactivity Disorder
- Congenital Anomalies and Fetal Surgery
- Colorectal and Anal Carcinomas
Fondation Jérôme-Lejeune
2013-2024
Délégation Paris 6
2019
Université de Sherbrooke
2017
Inserm
2004
Laboratoire de Biochimie
2004
McGill University
2004
Centre Hospitalier de Beauvais
2004
Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The can be either caused a microdeletion in chromosomal region 9q34.3 or mutation euchromatin histone methyltransferase 1 (EHMT1) gene. Since early 1990s, 85 patients have been described, which majority had (>85%). So far, no clear genotype-phenotype correlation could observed studying clinical molecular features both with an intragenic...
Enlarged early endosomes have been observed in neurons and fibroblasts Down syndrome (DS). These endosome abnormalities implicated the development of Alzheimer's disease (AD) pathology these subjects. Here, we show presence enlarged blood mononuclear cells lymphoblastoid cell lines (LCLs) from individuals with DS using immunofluorescence confocal microscopy. Genotype-phenotype correlations LCLs carrying partial trisomies 21 revealed that triplication a 2.56 Mb locus 21q22.11 is associated...
Infants with Down syndrome (DS) are at high risk of obstructive sleep apnoea (OSA) which is associated neurocognitive dysfunction and behaviour problems. The aim our study was to evaluate the effect early OSA treatment in infants DS on development behaviour.
The cause of the non-disjunction leading to trisomy 21 remains unclear. Recent evidence has suggested that 5, 10-methylenetetrahydrofolate reductase (MTHFR) and/or methionine synthase (MTRR) might contribute maternal risk 21. purpose present study was analyse these findings among French population and investigate whether common polymorphisms in genes folate homocysteine pathway, including MTHFR 677C>T, 1298A>C, (MTR) 2756A>G, cystathionine β-synthase (CBS) 844Ins68 reduced carrier...
Abstract: Adolescents and young adults with Down syndrome (DS) can present a rapid regression loss of independence daily skills. Causes are unknown treatment is most the time symptomatic. We did retrospective cohort study cases: patients were born between 1959 2000, followed from 1984 to now. found 30 DS aged 11 years old history regression. Regression occurred regardless cognitive level (severe, moderate, or mild intellectual disability (ID)). Patients presented psychiatric symptoms...
PurposeAlthough some caregivers are using epigallocatechin gallate (EGCG) off label in hopes of improving cognition young adults with Down syndrome (DS), nothing is known about its safety, tolerability, and efficacy the DS pediatric population. We aimed to evaluate safety tolerability a dietary supplement containing EGCG if improves cognitive functional performance.MethodsA total 73 children (aged 6-12 years) were randomized. Participants received 0.5% (10 mg/kg daily dose) or placebo for 6...
Background Seven genes involved in folate metabolism are located on chromosome 21. Previous studies have shown that deficiency may contribute to mental retardation Down's syndrome (DS). Methodology We investigated the effect of oral supplementation (daily dose 1.0±0.3 mg/kg) cognitive functions DS children, aged from 3 30 months. They received 1 mg/kg leucovorin or placebo daily, for 12 months, a single-centre, randomised, double-blind study. Folinic acid (leucovorin, LV) was preferred folic...
Abstract Background: People with trisomy 21 (T21) are predisposed to developing hematological tumors, but have significantly lower-than-expected age-adjusted incidence rates of having a solid tumor. Material and methods: To identify novel genetic factors implicated in the lower breast cancer (BC) frequency observed women T21 than general population, we compared transcriptome pattern homogeneous T21, aged more 30 years, or without BC, tumoral BC tissue control normal karyotype from study...
Down syndrome (DS) is one of the most frequent genetic disorders and represents first cause intellectual disability origin. While majority patients with DS follow a harmonious evolution, an unusual neurodevelopmental regression may occur, distinct from that described in context autism spectrum disorders, called down disorder (DSRD). Based on four patients, two males females, age range between 20 24, treated at Reference Center for Rare Psychiatric Disorders GHU Paris Psychiatry Neurosciences...
Abstract Background Trisomy 21 (T21) is associated with intellectual disability that ranges from mild to profound an average quotient of around 50. Furthermore, T21 patients have a high risk developing Alzheimer’s disease (AD) early in life, characterized by the presence senile plaques amyloid protein and neurofibrillary tangles, leading neuronal loss cognitive decline. We postulate epigenetic factors contribute observed variability disability, as well at level neurodegeneration seen...
Attention deficit hyperactivity disorder (ADHD) is a common co-morbidity that affects up to 44% of children with Down syndrome (DS). There need for reliable, good quality research on the use methylphenidate within this population. The objective study report our experience regarding management ADHD in these using methylphenidate.This retrospective observation 21 DS, followed at Jérôme Lejeune Institute between 2000 and 2018. diagnosis was made Diagnostic Statistical Manual Mental Disorders...
The objectives of this study were to obtain updated neonatal measurements in French newborns with Down Syndrome (DS) according their gestational age, and assess the frequency distribution congenital anomalies. Data on malformations, birth weight, length occipito‐frontal circumference (OFC) age was gathered from 1,030 babies, born between 1980 2010. mean 38 weeks date last menstrual period (LMP) (range: 29–42 weeks). Repartition complications found be similar previous studies, no difference...
We present new and complete growth charts for 2,598 healthy French children adolescents with Down syndrome (DS) from 0 to 20 years old, obtained highly reliable statistical methods. This study is retrospective addresses data collected over a period of 12 years, monocentric satisfactory representation the population nationwide. Final occipito-frontal circumference (OFC) at fifth percentile compared WHO charts, drop between 18 months. height first girls boys two periods reduced velocity:...