Background Intellectual disability (ID) affects 1–3% of the Western population and is
heterogeneous in origin. Mutations in X-linked genes represent 5–10% of ID in males …

Today, genomic data holds great potential to improve healthcare strategies across various
dimensions–be it disease prevention, enhanced diagnosis, or optimized treatment. The …

Intellectual Disability (ID) is a neurodevelopmental disorder that affects approximately 3% of
children and adolescents worldwide. It is a heterogeneous and multifactorial clinical …

Objectives To determine the diagnostic yield of next generation sequencing (NGS) in
patients with moderate/severe/profound intellectual disability (ID) unexplained by …

Background In countries where comparative genomic hybridization arrays (aCGH) and next
generation sequencing are not widely available due to accessibility and economic …

Аннотация Задержка психического развития (ЗПР) и умственная отсталость (УО)
являются частыми симптомами у пациентов, консультируемых врачом-генетиком. Цель …

Background Use of administrative health data to study populations of interest is becoming
more common. Identifying individuals with intellectual and developmental disabilities (IDD) …

Intellectual Disability (ID) is a neurodevelopmental disorder that affects approximately 3% of
children and adolescents worldwide. It is a heterogeneous and multifactorial clinical …

Objective The objective of this study was to analyze the value of routine metabolic screening
tests in children with an intellectual disability (ID) and its impact on improving their outcome …

Аннотация Умственная отсталость (УО) встречается примерно у 1% населения.
Нарушения интеллекта могут быть обусловлены различными этиологическими …