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引用次数: 0
摘要
虽然大多数携带脆性 X 预突变等位基因（定义为 X 连锁 FMR1 基因（脆性 X 信使核糖核蛋白 1 基因）上的 55-200 个 CGG 重复序列）的个体并不符合自闭症谱系障碍的诊断标准，但有迹象表明，与微妙的自闭症特征相关的行为有所增加。与儿童相比，成人自闭症相关特征的报道更多。这可能凸显了一种可能恶化的发展轨迹、由于研究质量或成人与儿童研究数量的差异而导致的不同研究结果，而不是真正的发展变化。本综述旨在从发育角度研究与预突变等位基因相关的神经发育特征，重点关注自闭症特征。
Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile.
Although most individuals who carry the Fragile X premutation allele, defined as 55-200 CGG repeats on the X-linked FMR1 gene (Fragile X Messenger Ribonucleoprotein 1 gene), do not meet diagnostic criteria for autism spectrum disorder, there is a suggestion of increased behaviors associated with subtle autistic traits. More autism associated characteristics have been reported among adults than children. This may highlight a possible worsening developmental trajectory, variable findings due to research quality or differences in number of studies done in adults vs children, rather than true developmental changes. This review is designed to examine the neurodevelopmental profile associated with the premutation allele from a developmental perspective, focused on autistic traits.
期刊介绍：
Devoted to exploring relationships between brain and behavior across the life span, Developmental Neuropsychology publishes scholarly papers on the appearance and development of behavioral functions, such as language, perception, and social, motivational and cognitive processes as they relate to brain functions and structures. Appropriate subjects include studies of changes in cognitive function—brain structure relationships across a time period, early cognitive behaviors in normal and brain-damaged children, plasticity and recovery of function after early brain damage, the development of complex cognitive and motor skills, and specific and nonspecific disturbances, such as learning disabilities, mental retardation, schizophrenia, stuttering, and developmental aphasia. In the gerontologic areas, relevant subjects include neuropsychological analyses of normal age-related changes in brain and behavioral functions, such as sensory, motor, cognitive, and adaptive abilities; studies of age-related diseases of the nervous system; and recovery of function in later life.
Empirical studies, research reviews, case reports, critical commentaries, and book reviews are featured in each issue. By publishing both basic and clinical studies of the developing and aging brain, the journal encourages additional scholarly work that advances understanding of the field of lifespan developmental neuropsychology.
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