30. Characterization of Idiopathic Autism and 22q11. 2 Syndromic Forms of Autism

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Title30. Characterization of Idiopathic Autism and 22q11. 2 Syndromic Forms of Autism
Publication TypeJournal Article
Year of Publication2017
AuthorsSchultz, R, Clements, C, Miller, J, de Marchena, A, Zackai, E, Emanuel, B, McDonald-McGinn, D, Wenger, T
JournalBiological Psychiatry
Volume81
PaginationS13
Abstract

While 22q11.2 Deletion Syndrome (22q11.2DS) is associated with autism, less is known about autism risk in 22q11.2 Duplication Syndrome (22q11.2DupS). Moreover, it is not known which of the 30-40 genes in this region confer autism risk.  We compared adaptive functioning, psychiatric symptoms and autism rates in individuals with 22q11.2DupS, 22q11.2DS, idiopathic autism, typically developing controls (TDCs), and in those with atypical 22q11.2 CNVs.

DOI10.1016/j.biopsych.2017.02.041