Publications by authors named "I Marey"
Background: Infants with Down syndrome (DS) are at high risk of obstructive sleep apnoea (OSA) which is associated with neurocognitive dysfunction and behaviour problems. The aim of our study was to evaluate the effect of early OSA treatment in infants with DS on neurocognitive development and behaviour.
Methods: In this prospective, interventional, non-randomised study, 40 infants with DS underwent polysomnography (PSG) every 6 months in room air between 6 and 36 months of age () and were compared to a control group of 40 infants with DS receiving standard of care and a single, systematic PSG in room air at 36 months of age ().
Article Synopsis
- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
Article Synopsis
- - TOKAS (Tonne-Kalscheuer syndrome) is a rare genetic disorder linked to multiple congenital anomalies, predominantly affecting males, and only 7 prenatal cases were previously documented among 41 patients.
- - A study identified 11 new cases from 6 French families through collaboration, revealing common features like diaphragmatic hernia, sex development differences, and various malformations, along with previously unreported conditions.
- - This research marks the first comprehensive fetal cohort for TOKAS, enhancing understanding of its clinical traits and genetic variants, with a significant recurrence of a specific genetic mutation noted in many cases.
Article Synopsis
- DYRK1A Syndrome is caused by mutations in the DYRK1A gene, leading to global developmental delays, intellectual disability, and common physical issues like low birth weight and microcephaly.
- The study compiled growth data from 92 individuals with the syndrome, utilizing various sources including pediatric records and scientific literature.
- New growth charts were created for key measurements (height, weight, BMI, occipitofrontal circumference) for children aged 0-5 years, providing a useful tool for managing patients with DYRK1A Syndrome.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.