Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
The 16p11.2 duplication (BP4 BP5) is associated with Autism Spectrum Disorder (ASD) although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM IV diagnoses in child and adult carriers were compared with familial non carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.
Journal of autism and developmental disorders