Teixeira Maria Cristina Triguero Veloz, Monteiro Camila Rondinelli Cobra, Velloso Renata de Lima, Kim Chong Ae, Carreiro Luiz Renato Rodrigues
Centro de Ciências da Saúde, Universidade Federal de Santa Catarina, Brazil.
Pro Fono. 2010 Jul-Sep;22(3):215-20. doi: 10.1590/s0104-56872010000300010.
Williams-Beuren Syndrome (WBS) is a genetic disorder caused by the deletion of multiples genes of long arm of chromosome 7 (region 7q11-23), which causes behavioral and intellectual disability. For the effectiveness of educational inclusion of these children, multidisciplinary approaches are needed to guide teachers and parents.
to describe the behavioral, cognitive and language profiles and to identify autistic behavior in a group of children and adolescents with WBS.
10 children and adolescents with WBS, aged 5 to 16 years, and 10 children and adolescents with typical development, matched by gender and age. Instruments used for assessment were: Nonverbal Intelligence Test (Leiter-R); Child Behavior Checklist (CBCL/1½-5; CBCL/6-18); Language Exam (TIPITI) and the Autism Screening Questionnaire (ASQ).
the group with WBS presented a greater number of behavioral changes with more inattention and social problems. Regarding the Leiter-R scale the intelligence scores were below the average for age (67.8 points) in WBS. The control group (CG) scored into the average (101.2). The group with WBS presented discrepancy in the morphosyntactic structure as well as an increased number of echolalia in the subtests of TIPITI, when compared to the CG.
based on the behavioral and cognitive problems found in individuals with WBS, the need for a multidisciplinary follow-up focused on cognitive stimulation and behavior control is confirmed, due to the interference of these characteristics in learning abilities.
威廉姆斯-贝伦综合征（WBS）是一种由7号染色体长臂（区域7q11 - 23）多个基因缺失引起的遗传性疾病，可导致行为和智力残疾。为了有效将这些儿童纳入教育体系，需要多学科方法来指导教师和家长。
描述一组患有WBS的儿童和青少年的行为、认知和语言特征，并识别其自闭症行为。
选取10名年龄在5至16岁之间患有WBS的儿童和青少年，以及10名年龄和性别相匹配的发育正常的儿童和青少年。用于评估的工具包括：非言语智力测验（莱特国际操作量表修订版）；儿童行为清单（儿童行为清单/1.5 - 5岁版；儿童行为清单/6 - 18岁版）；语言测试（TIPITI）和自闭症筛查问卷（ASQ）。
患有WBS的组出现了更多行为变化，注意力不集中和社交问题更多。在莱特国际操作量表修订版中，患有WBS的组智力得分低于年龄平均水平（67.8分）。对照组得分处于平均水平（101.2分）。与对照组相比，患有WBS的组在TIPITI子测试中的形态句法结构存在差异，模仿言语的数量也有所增加。
基于在患有WBS的个体中发现的行为和认知问题，由于这些特征对学习能力的干扰，证实了需要进行以认知刺激和行为控制为重点的多学科随访。
