Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …

Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …

Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Since the first report of nine similarly affected individuals by Prader and colleagues in 1956,
a wealth of information has accumulated regarding the medical pathophysiology, genetic …

Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …

Prader–Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular
genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism …

Periconceptional and intrauterine life can be influenced by environmental factors and
nutrition impacting DNA methylation. This process not only alters development of the fetus …

Abstract Background The 15q11. 2 BP1–BP2 microdeletion (Burnside–Butler susceptibility
locus) is an emerging condition with over 200 individuals reported in the literature …

Purpose This study aimed to investigate the perspectives of Autistic adults regarding genetic
testing for autism. Although previous studies have explored the perceptions of genetic …