Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.
Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.
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DOI：
10.1002/ajmg.a.36245
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发表时间：
2013-12
影响因子：
2
通讯作者：
Wiggs, Edythe A.
中科院分区：
文献类型：
--
作者：
Brinckman, Danielle D.;Keppler-Noreuil, Kim M.;Blumhorst, Catherine;Biesecker, Leslie G.;Sapp, Julie C.;Johnston, Jennifer J.;Wiggs, Edythe A.
对 42 名年龄在 2-61 岁之间、临床诊断为 Bardet-Biedl 综合征的患者进行了一组神经心理学测试，以评估认知、感觉和行为功能。这些测试包括韦氏智力量表、雷伊听觉语言学习测试、波士顿命名测试、D-KEFS 语言流畅性测试、D-KEFS 色词干扰测试、D-KEFS 分类测试、大范围成绩测试：数学和阅读子测试、普渡大学钉板、宾夕法尼亚大学气味识别测试、社交沟通问卷、社交反应量表和儿童行为评估系统（第二版）、家长评级量表。在适合年龄的韦氏量表中，平均言语理解力为 81 (n=36)，工作记忆为 81 (n=36)，知觉推理为 78 (n=24)，满量程智商为 75 (n=26)。单词列表的记忆（雷伊听觉言语学习测试）处于平均范围内，平均值为 89 (n=19)。普渡大学的精细运动速度很慢，平均分比正常值低 3-4 个标准差。所有受试者均通过宾夕法尼亚大学气味识别测试。在这 42 名患者中，只有 6 名能够完成所有听觉和视觉测试； 52% 由于视力受损而无法完成视力测试。向家长发放的调查问卷中认可了广泛的行为问题。大多数人都有社交技能缺陷，但没有外化或内化问题的模式。我们在我们的队列中发现了一个特征性的神经行为特征，包括智商下降、精细运动功能受损和嗅觉下降。
Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smell Identification Test, Social Communication Questionnaire, Social Responsiveness Scale, and Behavior Assessment System for Children, Second Edition, Parent Rating Scale. On the age appropriate Wechsler scale, the mean Verbal Comprehension was 81 (n=36), Working Memory was 81 (n=36), Perceptual Reasoning was 78 (n=24) and Full Scale IQ was 75 (n=26). Memory for a word list (Rey Auditory Verbal Learning Test) was in the average range with a mean of 89 (n=19). Fine motor speed was slow on the Purdue with mean scores 3-4 standard deviations below norms. All subjects were microsmic on the University of Pennsylvania Smell Identification Test. Of these 42 patients, only six were able to complete all auditory and visual tests; 52% were unable to complete the visual tests due to impaired vision. A wide range of behavioral issues were endorsed on questionnaires given to parents. Most had social skill deficits but no pattern of either externalizing or internalizing problems. We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction.
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DOI：
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发表时间：
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影响因子：
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