Dimitrios I Zafeiriou, Athina Ververi, Vaios Dafoulis, Efrosini Kalyva, Euthymia Vargiami
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc...
June 2013: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics