Emergence and Stability of Autism in Fragile X Syndrome

脆性 X 综合征中自闭症的出现和稳定性

• 批准号: 8267676
• 负责人: Jane E Roberts
• 金额: $ 35.8万
• 依托单位: UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-05-27 至 2013-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8267676
• 关键词: Attention; Autistic Disorder; Behavioral; Behavioral Symptoms; Biological Markers; Categories; Child; Comorbidity; Development; Diagnosis; Diagnostic; Early Diagnosis; FMR1 Gene; FMR1 Premutation; FMRP; Family; Fragile X Syndrome; Gene Expression; Gene Mutation; Genetic; Health; Heart; Heart Rate; Infant; Laboratories; Life; Measures; Neurosciences; Phase; Physiological; Prevalence; Prospective Studies; Public Health; Risk; Scientific Advances and Accomplishments; Screening procedure; Severities; Siblings; Specificity; Support System; Symptoms; Visual attention; Work; autistic behaviour; cost; developmental disease; high risk infant; male

DESCRIPTION (provided by applicant): Autism is a devastating and common developmental disorder and a major public health concern. Early detection of autism in high risk infants is critical to these children, their families, and the systems that support them. Fragile X syndrome (FXS) is the leading genetic cause of autism, and both FXS and the FMR1 premutation (FXpm) are highly associated with autism. Despite the high association of autism and FMR1 gene mutations, no study has examined early indicators of autism in FXS or FXpm or examined specificity of early autism indicators in FX to idiopathic (non-FX) autism. This application "Emergence and Stability of Autism in Fragile X Syndrome" proposes a longitudinal prospective study of the early autism features in infants with FXS and FXpm at 9, 12, and 24 in contrast to infants with an older sibling diagnosed with autism (hereafter referred to as "ASIBS") and typical controls (TD). This application takes advantage of recent scientific advances in the identification of autism in the first 2 years of life, characterization of the FXS and FXpm-autism co-morbidity and findings from developmental neuroscience to identify underlying physiological mechanisms associated with early emerging autistic features (e.g., attention). This work will advance our understanding of the progression of autism features during the key risk transition period for two conditions of major health importance: FX and autism. In this project, we will use a combined behavioral, both standardized and laboratory measures, and biomarker approach focused on autistic behavior as a continuum rather than rigid diagnostic categories.

描述（由申请人提供）：自闭症是一种破坏性且常见的发育障碍，也是一个主要的公共卫生问题。及早发现高危婴儿的自闭症对于这些儿童、他们的家庭以及支持他们的系统至关重要。脆性 X 综合征 (FXS) 是自闭症的主要原因，FXS 和 FMR1 前突变 (FXpm) 都与自闭症高度相关。尽管自闭症与 FMR1 基因突变存在高度关联，但尚无研究检查 FXS 或 FXpm 中自闭症的早期指标，或检查 FX 中早期自闭症指标与特发性（非 FX）自闭症的特异性。该申请“脆性 X 综合征中自闭症的出现和稳定性”提出了一项纵向前瞻性研究，针对 9 岁、12 岁和 24 岁患有 FXS 和 FXpm 的婴儿的早期自闭症特征，与有兄弟姐妹诊断为自闭症的婴儿（以下简称称为“ASIBS”）和典型控制（TD）。该应用程序利用了生命最初 2 年内自闭症识别方面的最新科学进展、FXS 和 FXpm-自闭症共病的特征以及发育神经科学的发现，以确定与早期出现的自闭症特征相关的潜在生理机制（例如，自闭症特征）。 ， 注意力）。这项工作将增进我们对自闭症特征在关键风险过渡期内的进展的理解，这两种情况对健康具有重要意义：FX 和自闭症。在这个项目中，我们将使用结合的行为、标准化和实验室测量以及生物标志物方法，重点关注自闭症行为作为一个连续体，而不是严格的诊断类别。