Overview: Anxiety disorders constitute the most common and debilitating mental health problem in childhood. Neurodevelopmental subgroups such as autism spectrum disorder (ASD) and fragile X syndrome (FXS) are at even greater risk, with 65% and 87% meeting criteria for an anxiety disorder respectively (Cordeiro et al., 2011; Salazar et al., 2015). Recognition of anxiety in individuals with ASD o...

Rett Syndrome, an X-linked dominant neurodevelopmental disorder characterized by regression of language and hand use, is primarily caused by mutations in methyl-CpG-binding protein 2 (MECP2). Loss of function mutations in MECP2 are also found in other neurodevelopmental disorders such as autism, Angelman-like syndrome and non-specific mental retardation. Furthermore, duplication of the MECP2 ge...

Anticonvulsants can increase the risk of developing neurotoxicity in infants; however, the underlying mechanism has not been elucidated to date. Thyroxine [3,5,3',5'-l-tetraiodothyronine (T4)] plays crucial roles in the development of the central nervous system. In this study, we hypothesized that induction of UDP-glucuronosyltransferase 1A1 (UGT1A1)-an enzyme involved in the metabolism of T4-b...

Several genetic causes of autism spectrum disorder (ASD) have been identified. However, more recent work has highlighted that certain environmental exposures early in life may also account for some cases of autism. Environmental insults during pregnancy, such as infection or malnutrition, seem to dramatically impact brain development. Maternal viral or bacterial infections have been characteriz...

BACKGROUND Microdeletions in the NRXN1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, speech and language delay, epilepsy and hypotonia. RESULTS In the present study we performed array CGH analysis on 10,397 individuals referred for diagnostic cytogenetic analysis, using a custom oligonucleot...

Overview The childhood disorders known collectively as neurodevelopmental disorders are associated with various dysfunctions in cognition, learning, communication and behaviour, and include: attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), dyspraxia and dyslexia. Evidence suggests that neurodevelopmental disorders are the result of genetic and environmental facto...

Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopm...