Abstract Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is
characterized by intellectual disability, well-defined facial features, upper limb anomalies …

Background Autism spectrum disorder (ASD) phenomenology is reported to be more
common in individuals with some genetic syndromes than in the general population; …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Cornelia de Lange syndrome (CdLS; MIM# 122470, 300590, 610759, 614701, 300882) is a
rare and clinically variable disorder that affects multiple organs. It is characterized by …

Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in
at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi …

Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that
affect the whole personality and all aspects of life. Although there is a high degree of …

We evaluated the proportion of individuals with Down syndrome (DS: N= 108) who met
criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and …

Epilepsy and autistic spectrum disorder frequently coexist in the same individual.
Electroencephalogram (EEG) epileptiform activity is also present at a substantially higher …

Autism and the related pervasive developmental disorders are a heavily researched group
of neurodevelopmental conditions. In addition to core symptoms, there are a number of other …

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental
disabilities with various etiologies, but with a heritability estimate of more than 90 …