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Chunk #6 — Results — Simons Simplex Collection summary characteristics

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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The male to female ratio for probands was 6.2:1. All had confirmed ASD diagnoses based on well-accepted research criteria (Risi et al., 2006), including autism: 1,006 (89.5%), Pervasive Developmental Disorder-Not Otherwise Specified: 96 (8.5%), and Asperger Syndrome: 22 (2%). The mean age at inclusion was 9.1 years for probands (4-18 years) and 10.0 years (3.5-26 years) for siblings. The mean (±95% CI) full-scale IQ in probands was 85.1±1.5, however the range was considerable (<20-167, Figure 3); the mean verbal IQ was 81.9±1.7 and the mean non-verbal IQ was 88.4±1.4. Self-reported ancestry was as follows: White, non-hispanic: 74.5%; Mixed: 9.3%; Asian: 4.3%; White, Hispanic: 4.0%; African American: 3.8%; Other: 4.2%. Additional phenotypic data may be found in recent publications (Fischbach and Lord, 2010) and at www.sfari.org/simons-simplex-collection.