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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations

Fig. 2

Average per question scores on the ADI-R subdomains that index the core symptoms of ASD based on the DSM5 criteria. A score of zero indicates no evidence of symptoms in that subdomain, a score of one indicates some evidence of symptoms in that subdomain, a score of two indicates definite evidence of symptoms in that subdomain. Patients in this sample display evidence of symptoms in the Social Communication domain, but relatively fewer symptoms in the Restricted and Repetitive Behavior (RRB) domain. Dashed lines indicate the mean values for the subgroup who we identified to carry SHANK3 Variants. Dotted lines indicate the mean values for the subgroup who were confirmed not to carry a SHANK3 Variant. Error Bars represent the Standard Error of the Mean

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