Neurodevelopmental disorders (NDDs) are a group of conditions characterized by impairments of brain processes that impact cognition, communication, motor abilities, and/or behavior during development. These conditions typically have significant effects across the life span and impact personal, social, academic, or occupational functioning. The US Centers for Disease Control and report that 1 in 6 children has a developmental disability, making it highly likely for child and adolescent psychiatrists to encounter children with NDDs in daily practice. 1 While the etiologies of NDDs are broad, genetic syndromes are a common cause of NDDs. The diagnostic yield of thorough genetic testing for NDDs as a group is about 40% based on meta-analysis, including 30% to 50% yield in patients with global developmental delay (GDD) or intellectual disability (ID) and 15% to 20% yield in patients with in autism spectrum disorder. 1-3 The findings are extremely heterogeneous, including chromosomal copy number variants (CNVs) and more than 2,000 known monogenic disorders associated with NDDs. 3 Diagnostic yields will increase over time with advances in technology and disease gene discovery. 3 .
Keyphrases
- copy number
- intellectual disability
- autism spectrum disorder
- mitochondrial dna
- mental health
- young adults
- genome wide
- healthcare
- systematic review
- primary care
- dna methylation
- white matter
- attention deficit hyperactivity disorder
- quality improvement
- small molecule
- multiple sclerosis
- high throughput
- resting state
- childhood cancer
- functional connectivity
- gene expression
- transcription factor
- subarachnoid hemorrhage