PDF(Pubmed)
Abstract：
UNASSIGNED: Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients.
UNASSIGNED: The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II).
UNASSIGNED: A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 ± 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 ± 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems.
UNASSIGNED: This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.
UNASSIGNED: The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II).
UNASSIGNED: A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 ± 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 ± 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems.
UNASSIGNED: This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.
摘要：
Williams-Beuren综合征（WBS）是一种罕见的遗传性疾病，具有语言和认知发育的延迟，但是,随着对临床特征的认识和可靠的诊断测试，WBS在童年时期变得越来越广泛。适应行为技能和/或适应不良行为对于WBS患者的预后很重要。这项研究的目的是调查WBS患者的临床和发展特征，并通过评估患者的适应技能和适应不良行为来进一步提高对WBS的认识。
■回顾了WBS患者在发育行为儿科单元的随访数据。围产期和产后病史的患者数据，发育阶段,收集身体和神经系统检查结果。对每个儿童实施了《国际儿童发育监测指南》（GMCD）。此外,使用Vineland适应行为量表对父母进行了半结构化访谈，第二版（Vineland-II）。
■共有12例通过检测7q11.23缺失诊断为WBS的患者，其中6个是女孩，进行回顾性审查。审查时的平均年龄为54.6±32.5个月。首次到发育行为儿科门诊就诊的平均年龄为15±11.5个月。在使用GMCD的第一次发育评估中，有6例患者的精细和粗大运动域延迟，在4名患者的语言领域，以及2名患者的所有领域。Vineland-II的研究结果表明，社会化和交流领域是优势，但是日常生活技能和运动技能领域是弱点。就适应不良行为而言，患者往往经常有行为问题，神经发育疾病,焦虑症,饮食问题,和睡眠问题。
■这项对12例患者的回顾性研究表明，总体发展普遍延迟，并确认WBS的适应性和不良适应性功能均受损。
■回顾了WBS患者在发育行为儿科单元的随访数据。围产期和产后病史的患者数据，发育阶段,收集身体和神经系统检查结果。对每个儿童实施了《国际儿童发育监测指南》（GMCD）。此外,使用Vineland适应行为量表对父母进行了半结构化访谈，第二版（Vineland-II）。
■共有12例通过检测7q11.23缺失诊断为WBS的患者，其中6个是女孩，进行回顾性审查。审查时的平均年龄为54.6±32.5个月。首次到发育行为儿科门诊就诊的平均年龄为15±11.5个月。在使用GMCD的第一次发育评估中，有6例患者的精细和粗大运动域延迟，在4名患者的语言领域，以及2名患者的所有领域。Vineland-II的研究结果表明，社会化和交流领域是优势，但是日常生活技能和运动技能领域是弱点。就适应不良行为而言，患者往往经常有行为问题，神经发育疾病,焦虑症,饮食问题,和睡眠问题。
■这项对12例患者的回顾性研究表明，总体发展普遍延迟，并确认WBS的适应性和不良适应性功能均受损。
