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Conference Paper: Social skills impairments in girls with Turner syndrome

TitleSocial skills impairments in girls with Turner syndrome
Authors
Issue Date2013
PublisherThe American Society of Human Genetics.
Citation
The 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013. How to Cite?
AbstractINTRODUCTION: 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 (R� = 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.
DescriptionThe Meeting abstracts' web site is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml
Persistent Identifierhttp://hdl.handle.net/10722/193306

 

DC FieldValueLanguage
dc.contributor.authorInbar-Feigenberg, Men_US
dc.contributor.authorGrafodatskaya, Den_US
dc.contributor.authorChoufani, Sen_US
dc.contributor.authorChung, BHYen_US
dc.contributor.authorRoberts, LJen_US
dc.contributor.authorRussell, Cen_US
dc.contributor.authorRoberts, Wen_US
dc.contributor.authorHamilton, Jen_US
dc.contributor.authorWeksberg, Ren_US
dc.date.accessioned2013-12-20T02:48:01Z-
dc.date.available2013-12-20T02:48:01Z-
dc.date.issued2013en_US
dc.identifier.citationThe 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013.en_US
dc.identifier.urihttp://hdl.handle.net/10722/193306-
dc.descriptionThe Meeting abstracts' web site is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml-
dc.description.abstractINTRODUCTION: 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 (R� = 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.-
dc.languageengen_US
dc.publisherThe American Society of Human Genetics.-
dc.relation.ispartof63rd ASHG Annual Meeting 2013en_US
dc.titleSocial skills impairments in girls with Turner syndromeen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros226921en_US
dc.publisher.placeUnited States-

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