Abstract
Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage. For each proband we obtained a clinical history and detailed behavioral descriptions. Genetic anomalies were observed in all probands, and likely clinical significance could be established in four cases. This included two cases having novel, de novo copy number variants and two cases having variants likely to have functional significance. These cases included segmental trisomy 14, segmental monosomy 21, and variants predicted to disrupt the function of ZEB2 (encoding a transcription factor) and HTR2C (encoding a serotonin receptor). Our results identify variants in regions previously implicated in intellectual disability and suggest candidate genes that could contribute to the etiology of SIB.
Highlights
Self-injurious behavior (SIB) is a serious behavioral disorder exhibited by many individuals with autism spectrum disorder (ASD) and other forms of developmental disability
It is characterized by self-inflicted physical injury to one's own body [1], with common topographies of SIB including head banging on hard surfaces, head and body hitting, self-biting, eye poking, self-scratching, and hair pulling
The prevalence of SIB is estimated at 5 to 17% of persons with intellectual disability [2], and approximately 50% of individuals displaying SIB are diagnosed with ASD [3]
Summary
Self-injurious behavior (SIB) is a serious behavioral disorder exhibited by many individuals with autism spectrum disorder (ASD) and other forms of developmental disability. It is characterized by self-inflicted physical injury to one's own body [1], with common topographies of SIB including head banging on hard surfaces, head and body hitting, self-biting, eye poking, self-scratching, and hair pulling. The prevalence of SIB is estimated at 5 to 17% of persons with intellectual disability [2], and approximately 50% of individuals displaying SIB are diagnosed with ASD [3]. SIB usually persists and evolves to include further topographies of injury and often has significant adverse effects on child and family quality of life.
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