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胎儿酒精综合征:神经精神表型组学

Fetal alcohol syndrome: neuropsychiatric phenomics.

作者信息

Burd Larry, Klug Marilyn G, Martsolf John T, Kerbeshian Jacob

机构信息

North Dakota Fetal Alcohol Syndrome Center, Department of Pediatrics, University of North Dakota School of Medicine, 1300 S. Columbia Road, Grand Forks, ND 58202, USA.

出版信息

Neurotoxicol Teratol. 2003 Nov-Dec;25(6):697-705. doi: 10.1016/j.ntt.2003.07.014.

DOI:10.1016/j.ntt.2003.07.014
PMID:14624969
Abstract

Fetal alcohol syndrome (FAS) is a common developmental disorder with impairments in multiple neuropsychiatric spheres of varying severity. Few population-derived studies of the behavioral phenotype are available. The purpose of this study was to estimate the prevalence of neuropsychiatric disorders in three groups: subjects who met criteria for FAS (n=152); subjects who met criteria for partial FAS/ARND (n=150); and referred subjects who did not meet criteria for either FAS or partial FAS/ARND (n=86). Each subject had a standardized evaluation by a medical geneticist. All subjects were from North Dakota. We found increases in the prevalence rates of neuropsychiatric disorders in subjects with FAS compared to subjects with partial FAS/ARND and the lowest rates in the group that did not meet criteria for either FAS or partial FAS/ARND. Comorbid attention deficit hyperactivity disorder occurred in 73% of cases with FAS, in 72% cases with partial FAS/ARND, and in 36% subjects who did not meet criteria for either. For other neuropsychiatric disorders, a similar distribution of comorbidity was found. This study supports the concept of a continuum of impairment resulting from prenatal alcohol exposure. The presence of complex cognitive, behavioral, and physical symptomatology in the affected subjects with prenatal alcohol exposure would seem to fit well under the diagnostic rubric of fetal alcohol spectrum disorder (FASD). Diagnosis and long-term management will require increasing access to multidisciplinary child development teams including mental health professionals who treat children and adolescents. Adults will require care primarily from teams with expertise in mental health and developmental disabilities.

摘要

胎儿酒精谱系障碍(FAS)是一种常见的发育障碍,在多个神经精神领域存在不同程度的损害。目前关于行为表型的基于人群的研究较少。本研究的目的是估计三组人群中神经精神障碍的患病率:符合FAS标准的受试者(n = 152);符合部分FAS/酒精相关神经发育障碍(ARND)标准的受试者(n = 150);以及不符合FAS或部分FAS/ARND标准的转诊受试者(n = 86)。每位受试者都由医学遗传学家进行了标准化评估。所有受试者均来自北达科他州。我们发现,与部分FAS/ARND受试者相比,FAS受试者中神经精神障碍的患病率有所增加,而在不符合FAS或部分FAS/ARND标准的组中患病率最低。共病注意缺陷多动障碍在73%的FAS病例、72%的部分FAS/ARND病例以及36%不符合任何标准的受试者中出现。对于其他神经精神障碍,也发现了类似的共病分布情况。本研究支持产前酒精暴露导致损害呈连续谱的概念。产前酒精暴露的受影响受试者中存在复杂的认知、行为和身体症状,这似乎很符合胎儿酒精谱系障碍(FASD)的诊断标准。诊断和长期管理将需要更多地接触多学科儿童发育团队,包括治疗儿童和青少年的心理健康专业人员。成年人将主要需要由具有心理健康和发育障碍专业知识的团队提供护理。

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