3q29 Microdeletion Syndrome: Cognitive and Behavioral Phenotype in Four Patients
3q29 Microdeletion Syndrome: Cognitive and Behavioral Phenotype in Four Patients
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DOI：
10.1002/ajmg.a.36142
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发表时间：
2013-12-01
影响因子：
2
通讯作者：
Romano, Corrado
中科院分区：
文献类型：
--
作者：
Citta, Santina;Buono, Serafino;Romano, Corrado
3q 29微缺失综合征是一种罕见的复发性基因组疾病，尽管缺失大小相同，但与可变表型相关，包括神经发育特征，如智力残疾（ID），精神分裂症，自闭症，双相情感障碍，抑郁症和轻度面部形态异常/先天性畸形。在患有这种综合征的患者中从未报道过彻底的神经精神评估。我们分析了4例3q 29微缺失综合征患者的临床表型，特别强调了认知和行为评估，以描述与这种情况相关的神经精神表型。我们用标准化量表或检查表评估这些患者的认知（WISC III或LIPS-R）、行为（CBCL）和适应（VABS）表现。在我们的样本中，准确的评估突出了不同程度的ID，可变的行为障碍，以及在剩余的适应性区域中保留沟通技能，作为3q 29微缺失综合征的神经精神病学标志。(c)2013 Wiley Periodicals，Inc.
The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients with such syndrome. We analyzed the clinical phenotype of four individuals with 3q29 microdeletion syndrome, with special emphasis on the cognitive and behavioral assessment, in order to delineate the neuropsychiatric phenotype related to this condition. We assessed these patients with standardized scales or checklists measuring the cognitive (WISC III or LIPS-R), behavioral (CBCL) and adaptive (VABS) performances. An accurate evaluation in our sample highlights different degrees of ID, variable behavioral disorders, and a preservation of communicative skills among remaining adaptive areas, as the neuropsychiatric hallmark of 3q29 microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc.