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; 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）：自闭症是一种毁灭性和常见的发育障碍，也是一个主要的公共卫生问题。早期发现高风险婴儿自闭症对这些孩子，他们的家人及其支持的系统至关重要。脆弱的X综合征（FXS）是自闭症的主要遗传原因，FXS和FMR1 Premuont（FXPM）都与自闭症高度相关。尽管自闭症和FMR1基因突变有很高的关联，但尚未研究FXS或FXPM中自闭症的早期指标，或检查了FX早期自闭症指标与特发性（非FX）自闭症的特异性。该应用“自闭症在脆弱X综合征中的出现和稳定性”提出了对FXS和FXPM的早期自闭症特征进行的纵向前瞻性研究，而在9、12和24中，与诊断为自闭症的较旧同胞（以下称为“ ASIBS”）和典型对照（TD）的婴儿（较旧的同胞诊断为自闭症）。该应用利用了生命的头两年来鉴定自闭症的最新科学进步，FXS的表征和FXPM-autism合并症以及发育神经科学的发现，以识别与早期出现的自闭症特征相关的基本生理机制（例如，注意）。这项工作将在关键风险过渡期内对自闭症特征的进展提高我们对两个主要健康重要性条件的理解：FX和自闭症。在这个项目中，我们将使用合并的行为，标准化和实验室措施，而生物标志物方法的重点是自闭症行为作为连续性，而不是严格的诊断类别。