Social skills impairments in girls with Turner syndrome. M. Inbar-Feigenberg1,2, D. Grafodatskaya2, S. Choufani2, BHY. Chung1,3, LJ. Roberts2, C. Russell4, W. Roberts4, J. Hamilton5,6, R. Weksberg1,2,6 1) Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; 2) Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada; 3) Centre of Reproduction, Growth & Development, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong; 4) Autism Research Unit, Hospital for Sick Children, Toronto, ON, Canada; 5) Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada; 6) Department of Pediatrics, University of Toronto, Toronto, ON, Canada.

   Introduction: Turner syndrome (TS) is one of the most common sex chromosome abnormalities caused by complete or partial monosomy of the X chromosome, with a prevalence of ~1/2000 female live births. Individuals with TS present with short stature, gonadal dysfunction and other systemic malformations. A specific neuro-cognitive profile has been reported, sometimes including impaired social cognition. Autism and autism spectrum disorders (ASD) are reported in 5% and 25% of TS patients respectively. Skuse et al, 1997 reported that females who inherit their single X-chromosome from their father have better social skills than females who inherit it from their mother. The authors hypothesized that an imprinted locus on the X-chromosome is relevant to social functioning. Hypothesis: Females with TS demonstrate parent of origin- specific differences in social cognition. Methods and Results: We recruited 28 individuals with TS (age 3-18 years) and their parents at the Pediatric Endocrinology Clinic. We collected buccal samples from the proband and both parents. In addition, parents completed two social skills questionnaires for their daughters, one used originally by Skuse et al and the Social Responsiveness Scale (SRS) that assesses social awareness, social cognition, social communication, social motivation, and autistic mannerisms. SRS total scores fall into three categories: normal (T score 59); mild to moderate, consistent with mild ASD (T score=60-75); and severe, consistent with autism (76). We compared the scores for groups of girls with TS carrying a single maternal vs paternal X chromosome, as well as a group with karyotypes other then XO. In 14/28 patients (50%) scores were> 60. In 7/28 (25%), scores were in the mild/moderate ASD range and in 7/28 (25%), scores were in the severe autism range. Score differences for the sub-scales of SRS showed higher scores for autistic mannerisms. A good correlation between Skuze et al and the currently SRS was found (Rē = 0.80). We did not find any correlation in social skill measures with parent of origin of the X chromosome in our small TS cohort. Conclusions: We found the rate of autistic features in TS to be significantly higher than previously reported. These data have significant implications for genetic counseling. We suggest that individuals with TS be routinely screened for ASD for early identification and initiation of behavioral interventions.

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