DEFICITS IN SIBS OF AUTISTIC PROBANDS

自闭症先证者同胞兄弟姐妹的缺陷

• 批准号: 2252183
• 负责人: Rebecca Jean Landa
• 金额: $ 6.01万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-09-30 至 2000-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2252183
• 关键词: adolescence (12-20); autism; epidemiology; family genetics; family structure /dynamics; gene expression; human subject; language disorders; mental disorders; middle childhood (6-11); psychological stressor; siblings; social behavior disorders

The overall goal is to characterize the autism-related phenotype (lesser variant) in non-autistic school-aged siblings of autistic probands for use in future genetic studies. Although language, social, and psychiatric abnormalities are known to exist in parents of autistics, most reports about deficits in school-aged autism sibs come from family history studies or studies with methodologic limitations. Some deficits (reading, spelling) identified in those reports have not been found in a methodologically sound, direct study of autism sibs. The specific aims are to: (1) estimate the frequency of disorders that may be genetically related to autism in school-aged siblings of idiopathic autistics compared to individually-matched 'normal' controls (sibs of Down syndrome probands to control for familial stresses related to the presence of a handicapped child); )2) characterize the lesser variant of autism for use in future genetic studies by testing all subjects in aspects of functioning (language, social, psychiatric) that are abnormal in non- retarded autistics; and (3) assess whether sibling morbidity is adequately explained by stress related to the presence of an autistic child in the family by examining the relationship between language, social, and psychiatric disorder in siblings, severity of proband behavior, and family stress. These aims stem from pilot findings of language formulation deficits and social deficits in autism sibs, who sometimes has ongoing or past psychiatric disorders. The language and social disorders in autism sibs appear to be milder versions of those seen in autism. Fifty autism sibs and 50 individually-matched controls will receive tests of (1) expressive and receptive grammar, semantic, and discourse ability; )2) social problem solving and peer relationships; (3) psychiatric disorder; and (4) the Family Environment Scale (a measure of perceived stress). Autism sibs will be ascertained from the Hopkins Autism Family Study. Thus, data interpretation will be facilitated by the large family study data set, including information about these sibs (reading, spelling, pre-, peri- and neonatal risk factors), their parents (based on direct cognitive, social, psychiatric, and language assessment), autistic sibling, (IQ, nature and severity of autistic symptoms) and extended family (family history). This study is important for defining the autism-related phenotype (necessary for genetic analyses) and will contribute to our understanding of abnormal mechanism in autism.

总体目标是表征自闭症相关的表型（较少 自闭症概率的非自闭症兄弟姐妹的变体） 在未来的遗传研究中使用。 虽然语言，社交和 众所周知，精神病异常存在于自闭症的父母中， 大多数有关校际自闭症SIB缺陷的报告来自家庭 历史研究或具有方法论局限性的研究。 一些赤字 （阅读，拼写）在这些报告中确定的 自闭症SIBS的方法论上有声音，直接研究。 具体目标 为：（1）估计可能在遗传上可能是遗传的疾病的频率 与特发性自闭症校友兄弟姐妹的自闭症有关 与单独匹配的“正常”对照（唐氏综合症的SIB）相比 控制与存在有关的家族应力的概率 残障孩子）； ）2）表征自闭症的较小变体 通过在未来的遗传研究中测试所有受试者 功能（语言，社会，精神病），非正常 智障自闭症； （3）评估兄弟姐妹的发病率是否 与自闭症的存在有关的压力充分解释 通过检查语言之间的关系，家庭中的孩子 兄弟姐妹的社会和精神障碍，概率的严重性 行为和家庭压力。 这些目的源于试点调查结果 自闭症SIB的语言表述缺陷和社会缺陷，谁 有时患有持续或过去的精神疾病。 语言和 自闭症SIB中的社会疾病似乎是那些人的温和版本 在自闭症中看到。 五十个自闭症SIB和50个单独匹配的控件 将接受（1）表达和接受语法，语义和 话语能力； ）2）解决社会问题解决和同伴关系； （3）精神疾病； （4）家庭环境量表（a 衡量感知压力）。 自闭症SIB将从 霍普金斯自闭症家庭研究。 因此，数据解释将是 大型家庭研究数据集（包括信息）促进 关于这些SIBS（阅读，拼写，前，周期和新生儿风险 因素），他们的父母（基于直接认知，社会，精神病， 和语言评估），自闭症兄弟姐妹（智商，性质和严重性 自闭症症状）和大家庭（家族史）。 这项研究是 对于定义与自闭症相关的表型很重要（对于 遗传分析），将有助于我们对异常的理解 自闭症机制。