EVIDENCE FOR A DISCRETE BEHAVIORAL-PHENOTYPE IN THE OCULOCEREBRORENAL SYNDROME OF LOWE
EVIDENCE FOR A DISCRETE BEHAVIORAL-PHENOTYPE IN THE OCULOCEREBRORENAL SYNDROME OF LOWE
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DOI：
10.1002/ajmg.1320590304
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发表时间：
1995-11-20
期刊：
影响因子：
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通讯作者：
CHARNAS, L
中科院分区：
文献类型：
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作者：
KENWORTHY, L;CHARNAS, L
Lowe眼脑肾综合征（OCRL）是一种X连锁疾病，其特征是先天性白内障、认知障碍和肾小管功能障碍。虽然受影响的个体有广泛的智力功能，但它往往受到适应不良行为的高度流行的影响，包括发脾气，笨拙和刻板。这些行为是否只是反映了在一些有或没有OCRL的发育障碍个体中发现的多种残疾，或者是OCRL的特定遗传决定的行为表型，目前尚不清楚。对照组在性别、年龄、视力障碍和适应功能方面相匹配，并与OCRL患者在适应/适应不良行为的三个标准化指标上进行比较。确定了43对匹配的OCRL和对照组受试者。两组在沟通、日常生活、社会化、运动技能、社会经济地位和父母压力的测量方面相似。与对照组相比，OCRL患者表现出更严重的适应不良行为，如葡萄园适应行为量表（VABS）所测量的，两组之间的差异有41%归因于OCRL的诊断。在VABS上测量的12种适应不良行为在OCRL中出现的频率高于对照组。这12种行为中的5种，即，发脾气、易怒、复杂的重复行为（刻板）/习惯、强迫/不寻常的专注和消极，通过判别函数分析来识别，以显著区分对照组和OCRL个体。OCRL的诊断与行为表型有关，包括发脾气、刻板、偏执和强迫/不寻常的专注。这种表型不能仅仅归因于OCRL的视觉、运动和智力障碍特征，并且可能代表OCRL基因对中枢神经系统的特定影响。(C)1995 Wiley-Liss，Inc.
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Although there is a wide range of intellectual function in affected individuals, it is often compromised by a high prevalence of maladaptive behaviors, including tantrums, stubbornness, and stereotypy. Whether these behaviors simply reflect the multiple disabilities found in some developmentally impaired individuals with or without OCRL, or a specific genetically-determined behavioral phenotype of OCRL, is unknown. Controls were matched for sex, age, visual impairment, and adaptive functioning and compared with OCRL patients on three standardized measures of adaptive/maladaptive behaviors. Forty-three matched pairs of OCRL and control subjects were identified. Both groups were similar in communication, daily living, socialization, and motor skills, in socioeconomic status, and in measures of parental stress. Individuals with OCRL displayed significantly more severe maladaptive behaviors than control boys, as measured by the Vineland Adaptive Behavior Scales (VABS), with 41% of the difference between the two groups attributable to the diagnosis of OCRL. Twelve maladaptive behaviors measured on the VABS appeared more frequently in OCRL than in controls. Five of these 12 behaviors, i.e., temper tantrums, irritability, complex repetitive behaviors (stereotypy)/mannerisms, obsessions/unusual preoccupations, and negativism, were identified by discriminant function analysis to significantly distinguish between controls and OCRL individuals. The diagnosis of OCRL is associated with a behavioral phenotype consisting of temper tantrums, stereotypy, stubbornness, and obsessions/unusual preoccupations. This phenotype cannot be attributed solely to the visual, motor, and intellectual disabilities characteristic of OCRL, and may represent a specific effect of the OCRL gene on the central nervous system. (C) 1995 Wiley-Liss, Inc.