Adaptive behaviour in Angelman syndrome: its profile and relationship to age
Adaptive behaviour in Angelman syndrome: its profile and relationship to age
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DOI：
10.1111/j.1365-2788.2010.01331.x
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发表时间：
2010-11-01
影响因子：
3.6
通讯作者：
Turk, J.
中科院分区：
文献类型：
--
作者：
Brun Gasca, C.;Obiols, J. E.;Turk, J.
背景Angelman综合征（AS）是一种神经发育障碍性疾病，通常由母系遗传的15号染色体异常引起。主要特征是严重的智力残疾，语言障碍，共济失调，癫痫，睡眠障碍和行为表型，据报道，包括快乐的性格，吸引/迷恋水和hypermotoric behavior.MethodWe研究了适应行为的水平和适应行为的轮廓在“运动技能”，“语言和沟通”，“个人生活技能”和“社区生活技能”在一组25个人与遗传确认的AS，以确定是否有一个特定的适应行为profile.Results和conclusionsNo的个人，无论他们的实际年龄，已达到3年的发展年龄。一个特定的适应性行为配置文件被发现，与“个人生活技能”出现的相对优势和“社会和沟通技能”的弱点。
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with water and hypermotoric behaviour.MethodWe studied the level of adaptive behaviour and the adaptive behavioural profile in the areas of 'motor skills', 'language and communication', 'personal life skills' and 'community life skills' in a group of 25 individuals with genetically confirmed AS, to determine whether there is a specific adaptive behaviour profile.Results and conclusionsNone of the individuals, whatever their chronological age, had reached a developmental age of 3 years. A specific adaptive behaviour profile was found, with 'personal life skills' emerging as relative strengths and 'social and communication skills' as weaknesses.