Department of Psychiatry and Behavioral Sciences, Rush University Medical Center, Chicago, IL, USA.
The Pritzker Department of Psychiatry and Behavioral Health, Ann & Robert H. Lurie Children's Hospital of Chicago, IL, USA.
Clin Neuropsychol. 2022 Jul;36(5):993-1027. doi: 10.1080/13854046.2021.1980111. Epub 2021 Sep 27.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by core deficits in social communication and restricted and repetitive behaviors and interests. Recent advances in clinical genetics have improved our understanding of genetic syndromes associated with ASD, which has helped clarify distinct etiologies of ASD and document syndrome-specific profiles of neurocognitive strengths and weaknesses. Pediatric neuropsychologists have the potential to be impactful members of the care team for children with genetic syndromes and their families.
We provide a critical review of the current literature related to the neuropsychological profiles of children with four genetic syndromes associated with ASD, including Tuberous Sclerosis Complex (TSC), fragile X syndrome (FXS), 22q11.2 deletion syndrome, and Angelman syndrome. Recommendations for assessment, intervention, and future directions are provided.
There is vast heterogeneity in terms of the cognitive, language, and developmental abilities of these populations. The within- and across-syndrome variability characteristic of genetic syndromes should be carefully considered during clinical evaluations, including possible measurement limitations, presence of intellectual disability, and important qualitative differences in the ASD-phenotypes across groups.
Individuals with genetic disorders pose challenging diagnostic and assessment questions. Pediatric neuropsychologists with expertise in neurodevelopmental processes are well suited to address these questions and identify profiles of neurocognitive strengths and weaknesses, tailor individualized recommendations, and provide diagnostic clarification.
自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，其特征是社交沟通核心缺陷，以及受限和重复的行为和兴趣。临床遗传学的最新进展提高了我们对与 ASD 相关的遗传综合征的理解，这有助于阐明 ASD 的不同病因，并记录特定于综合征的神经认知优势和劣势的特征。儿科神经心理学家有可能成为患有遗传综合征及其家庭的护理团队中具有影响力的成员。
我们对与 ASD 相关的四种遗传综合征（包括结节性硬化症（TSC）、脆性 X 综合征（FXS）、22q11.2 缺失综合征和 Angelman 综合征）的儿童神经心理学特征的当前文献进行了批判性回顾。提供了评估、干预和未来方向的建议。
这些人群在认知、语言和发育能力方面存在巨大的异质性。在临床评估中，包括可能存在的测量限制、智力障碍的存在以及不同群体之间 ASD 表型的重要定性差异，应仔细考虑遗传综合征的内在和跨综合征变异性。
患有遗传疾病的个体提出了具有挑战性的诊断和评估问题。具有神经发育过程专业知识的儿科神经心理学家非常适合解决这些问题，并确定神经认知优势和劣势的特征，制定个性化的建议，并提供明确的诊断。
