Common Genetic Disorders Associated With Autism Spectrum Disorder
-
Published:2019
American Academy of Pediatrics, "Common Genetic Disorders Associated With Autism Spectrum Disorder", Autism – Caring for Children With Autism Spectrum Disorder: A Practical Resource Toolkit for Clinicians
Download citation file:
Caused by deletion on chromosome 22. Characterized by congenital cardiac anomalies, cleft palate, immune abnormalities, hypocalcemia, speech delays, developmental delay, learning disability, and psychiatric disorders including depression, anxiety, bipolar disorder, and schizophrenia.
Caused by abnormalities involving the Prader-Willi syndrome (PWS)/Angelman syndrome region on chromosome 15q11.2-q13. A patient may have Angelman syndrome because of a deletion of the maternally inherited allele in this region, uniparental disomy, an imprinting error, or a mutation in the UBE3A gene.
Confirming the diagnosis of Angelman syndrome may require several different testing modalities because of these different mechanisms, including fluorescence in situ hybridization or microarray detection...