Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series.

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Susana Bernad-Ripoll, Meghan O'Neill, George T Capone
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引用次数: 0

Abstract

Loss of previously acquired developmental skills in children with Down syndrome (DS) is not a well characterized phenomenon. We identified 20 confirmed cases of childhood-onset skill loss for descriptive analysis. Eligible participants were recruited from a specialty clinic for persons with DS at a large medical center. Age and gender-matched participants also with DS but without skill loss were used as a comparison group. Case and control participants were between 3 and 14 years (mean 7.6 yr) at the time of evaluation. Loss of previously acquired communication, social-communication, and play skills was experienced by all cases, as well as new-onset or intensification of pre-existing maladaptive behaviors. The Aberrant Behavior Checklist (ABC)-community was helpful in distinguishing group differences in maladaptive behavior among cases and controls. All cases met DSMIV criteria for autism. Developmental skill loss associated with autism is an extreme example of within-group phenotypic variability and needs to be the focus of further research.

经历发育技能丧失的唐氏综合症儿童,特征和现象:一个病例系列。
在患有唐氏综合症(DS)的儿童中,先前获得的发展技能的丧失并不是一个很好的特征现象。我们确定了20例儿童期发病技能丧失的确诊病例进行描述性分析。符合条件的参与者是从一家大型医疗中心的DS患者专科诊所招募的。年龄和性别匹配的参与者也患有退行性痴呆,但没有技能丧失,作为对照组。在评估时,病例和对照参与者的年龄在3至14岁之间(平均7.6岁)。所有病例都经历了先前获得的沟通、社会沟通和游戏技能的丧失,以及先前存在的适应不良行为的新发作或加剧。异常行为检查表(ABC)-社区有助于区分病例和对照组在适应不良行为方面的组间差异。所有病例都符合DSMIV的自闭症标准。与自闭症相关的发育技能丧失是组内表型变异的一个极端例子,需要成为进一步研究的重点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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