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: 8434227
• 负责人: Jane E Roberts
• 金额: $ 34.37万
• 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 2016-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8434227
• 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; Severities; Siblings; Specificity; Support System; Symptoms; Visual attention; Work; autistic behaviour; cost; developmental disease; high risk infant; male; screening

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）：自闭症是一种毁灭性的和常见的发育障碍和一个主要的公共卫生问题。早期发现高危婴儿的自闭症对这些儿童、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）是自闭症的主要遗传原因，FXS和FMR 1前突变（FXpm）与自闭症高度相关。尽管自闭症与FMR 1基因突变高度相关，但没有研究检查FXS或FXpm中自闭症的早期指标，或检查FX中早期自闭症指标对特发性（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，研究了9岁、12岁和24岁时患有FXS和FXpm的婴儿与患有自闭症的年长兄弟姐妹（以下称为“ASIBS”）和典型对照（TD）的婴儿相比的早期自闭症特征。本申请利用了在生命的前2年中自闭症的鉴定、FXS和FXpm-自闭症共病的表征以及来自发育神经科学的发现方面的最新科学进展，以鉴定与早期出现的自闭症特征（例如，注意）。这项工作将促进我们对自闭症特征在两种主要健康重要性条件的关键风险过渡期的进展的理解：FX和自闭症。在这个项目中，我们将使用一种结合行为，标准化和实验室测量，以及生物标志物的方法，专注于自闭症行为作为一个连续体，而不是严格的诊断类别。