Huber Rebekah S, Houlihan Daniel, Filter Kevin
University of Utah, SLC, USA.
J Clin Med Res. 2011 Jul 26;3(4):147-55. doi: 10.4021/jocmr581w.
Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome.
Dubowitz; Syndrome; Autosomal; Recessive.
杜波维茨综合征是一种罕见的常染色体隐性疾病，其特征为小头畸形、身材矮小、面容异常以及轻度至重度智力发育迟缓。生长发育迟缓在宫内和出生后均会出现。行为特征包括多动、注意力持续时间短和攻击性。行为问题包括喂养困难、睡眠障碍和尿床。患有该疾病的个体表现出害羞、怕人群和不喜欢噪音。高音调或嘶哑的声音很常见。在言语和语言技能、推理和记忆技能、自理技能以及心理运动功能方面均发现有缺陷。眼部、牙科、皮肤、骨骼、心血管、胃肠道、神经、免疫和血液方面的医学问题也已被注意到。文献中已描述了约148例病例。该疾病的病因尚不清楚，然而，研究表明其起源于遗传。过去的研究强调身体特征和医学并发症。关于该疾病，缺乏认知、行为和心理方面的信息。本文对文献进行了综述，并针对杜波维茨综合征的认知、行为和心理方面提供了评估和治疗建议。
杜波维茨；综合征；常染色体；隐性
