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Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness.
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-02-21 , DOI: 10.1002/ajmg.a.61507
Patricia C Lasutschinkow 1 , Andrea L Gropman 2, 3 , Grace F Porter 1 , Teresa Sadeghin 1 , Carole A Samango-Sprouse 1, 4, 5
Affiliation  

49,XXXXY is a rare X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births and is notable for variable motor, speech, and behavioral deficits. Case studies have described boys with this disorder as shy, impulsive, and aggressive with low frustration tolerances; however, previous studies have been limited due to cohort size. This study reports on the largest cohort of boys with 49,XXXXY to date with an emphasis on the prevalence of anxiety-related symptoms and sociability from preschool to adolescence. The Child Behavior Checklist, Behavior Rating Inventory of Executive Function, 2nd edition, and Social Responsiveness Scale, 2nd edition were completed by parents on a cohort of 69. The cohort demonstrated deficits in social cognition and communication beginning in preschool, however, presented with consistent social awareness and motivation for social activities not previously appreciated in this disorder. In addition, signs of anxiety presented during preschool years and increased in severity with age, particularly in internalizing problems. Boys with 49,XXXXY presented with wide behavioral variability across all ages and domains. Further research into the potential influences of culture, birth order, biological treatment, and frequency of services is needed to better define the behavioral phenotype of children with this disorder.

中文翻译:

49,XXXXY综合征的行为表型:焦虑相关症状的存在和完整的社会意识。

49,XXXXY是一种罕见的X和Y染色体变异,发生在1:85,000至1:100,000的男性活产中,并且因运动,言语和行为缺陷多变而著名。案例研究表明,患有这种疾病的男孩害羞,冲动,好斗,挫折承受力低。但是,由于队列规模,以前的研究受到限制。这项研究报告了迄今为止最大的49,XXXXY男孩队列,重点是从学龄前到青春期的焦虑相关症状的流行和社交能力。儿童行为清单,第2版执行功能行为等级量表和第2版社交反应量表由父母组成,队列为69个。该队列显示,学龄前儿童社交认知和沟通能力下降。表现出一致的社会意识和对社交活动的动力,而这种精神是以前在这种疾病中未曾意识到的。另外,在学龄前阶段出现焦虑症状,并且随着年龄的增长而加剧,特别是在内部化问题中。49,XXXXY的男孩在各个年龄段和地区都表现出广泛的行为变异性。需要进一步研究文化,出生顺序,生物治疗和服务频率的潜在影响,以更好地定义患有这种疾病的儿童的行为表型。XXXXY在所有年龄和领域的行为变异都很大。需要进一步研究文化,出生顺序,生物治疗和服务频率的潜在影响,以更好地定义患有这种疾病的儿童的行为表型。XXXXY在所有年龄和领域的行为变异都很大。需要进一步研究文化,出生顺序,生物治疗和服务频率的潜在影响,以更好地定义患有这种疾病的儿童的行为表型。
更新日期:2020-04-21
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