Adolescent adaptive behavior profiles in Williams–Beuren syndrome, Down syndrome, and autism spectrum disorder

Background Adaptive behavior can be impaired in different neurodevelopmental disorders and may be influenced by confounding factors, such as intelligence quotient (IQ) and socioeconomic classification. Our main objective was to verify whether adaptive behavior profiles differ in three conditions—Williams Beuren syndrome (WBS), Down syndrome (DS), and autism spectrum disorder (ASD), as compared with healthy controls (HC) and with each other. Although the literature points towards each disorder having a characteristic profile, no study has compared profiles to establish the specificity of each one. A secondary objective was to explore potential interactions between the conditions and socioeconomic status, and whether this had any effect on adaptive behavior profiles. Methods One hundred and five adolescents were included in the study. All adolescents underwent the following evaluations: the Vineland Adaptive Behavior Scale (VABS), the Wechsler Intelligence Scale for Children (WISC), and the Brazilian Economic Classification Criteria. Results Our results demonstrated that the WBS group performed better than the DS group in the communication domain, β = −15.08, t(3.45), p = .005, and better than the ASD group in the socialization domain, β = 8.92, t(−2.08), p = .013. The DS group also performed better than the ASD group in socialization, β = 16.98, t(−2.32), p = .024. IQ was an important confounding factor, and socioeconomic status had an important effect on the adaptive behavior of all groups. Conclusions There is a heterogeneity regarding adaptive behavior profiles in WBS, DS, and ASD. These data are important to better design specific strategies related to the health and social care of each particular group

Evaluation of the influence of clinical symptoms on the quality of life in individuals with Williams-Beuren Syndrome

Introduction: Williams-Beuren Syndrome (WBS) results from a deletion in the chromosome 7q11.23. Psychiatric symptoms, such as Generalized Anxiety Disorder (GAD), Attention Deficit Hyperactivity Disorder (ADHD), and others, have been described in this syndrome. Objective: The main purpose of this study was to identify related clinical symptoms in individuals with WBS and the impact of this disorder in their quality of life. Method: The study sample included 42 individuals aged 11 to 16 years divided into two groups: a study group composed of 20 individuals with WBS and a control group comprising 22 individuals with typical development. The following instruments were used in this evaluation: Brazilian Criterion of Economic Classification (CCEB), to estimate the purchasing power of urban householdsStrengths & Difficulties Questionnaire (SDQ), to provide a useful measure of psychopathology applied to children and youth aged 4-17 yearsand Quality of Life Evaluation Scale (AUQEI), to assess the feeling of well-being according to the opinion of the child and adolescent. Results: The results suggest that adolescents with WBS have a good quality of life despite presenting greater possibilities of psychiatric symptoms. These results are valid considering that quality of life is measured from the opinion of the assessed individual. Conclusion: We hypothesized that adolescents with WBS can present a distortion of reality regarding the positive/optimistic factor, possibly based on some characteristics of the syndrome such as being always cheerful and smiling, which are factors associated with intellectual disability.Introdução: A Síndrome de Williams-Beuren (SWB) é resultado da deleção do cromossomo 7q11.23. A presença de transtornos psiquiátricos, tais como Transtorno de Ansiedade Generalizada, Déficit de Atenção e Hiperatividade, entre outros, já foram descritos nesta síndrome. Objetivo: Este estudo teve como objetivo identificar possíveis sintomas clínicos nos indivíduos com SWB e as possíveis consequências na qualidade de vida. Método: O grupo amostral com SWB constituiu-se por 20 indivíduos com idade entre 11 e 16 anos e 22 indivíduos com desenvolvimento típico (DT). Os instrumentos utilizados foram: Critério de Classificação Econômica Brasil para estimar o poder de compra das famílias urbanas; o Questionário de Capacidades e Dificuldades (SDQ), que possibilita uma medida útil em psicopatologia aplicada a crianças e jovens com 4 a 17 anos de idade; e o Questionário de Avaliação de Qualidade de Vida em Crianças e Adolescentes (AUQEI), que tem como objetivo avaliar a sensação de bem-estar mediante a opinião da própria criança e adolescente. Resultados: Os resultados sugerem que os adolescentes com SWB possuem uma boa qualidade de vida, apesar de apresentarem maiores possibilidades de sintomas psiquiátricos. Estes resultados são válidos, já que a qualidade de vida é mensurada a partir da subjetividade do indivíduo avaliado. Conclusão: Chega-se à hipótese de que os adolescentes com SWB podem apresentar uma distorção da realidade para o fator positivo/otimista, possivelmente baseada em algumas características da própria síndrome, tais como: são sempre alegres e sorridentes, fatores associados à deficiência intelectual.FAPESPUniv Fed Sao Paulo UNIFESP, Dept Psiquiatria, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Saude Educ & Soc, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Psiquiatria, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Saude Educ & Soc, Sao Paulo, SP, BrazilFAPESP: 2011/19421-0Web of Scienc

Evaluation of the influence of clinical symptoms on the quality of life in individuals with Williams-Beuren Syndrome

Introduction: Williams-Beuren Syndrome (WBS) results from a deletion in the chromosome 7q11.23. Psychiatric symptoms, such as Generalized Anxiety Disorder (GAD), Attention Deficit Hyperactivity Disorder (ADHD), and others, have been described in this syndrome. Objective: The main purpose of this study was to identify related clinical symptoms in individuals with WBS and the impact of this disorder in their quality of life. Method: The study sample included 42 individuals aged 11 to 16 years divided into two groups: a study group composed of 20 individuals with WBS and a control group comprising 22 individuals with typical development. The following instruments were used in this evaluation: Brazilian Criterion of Economic Classification (CCEB), to estimate the purchasing power of urban households; Strengths & Difficulties Questionnaire (SDQ), to provide a useful measure of psychopathology applied to children and youth aged 4-17 years; and Quality of Life Evaluation Scale (AUQEI), to assess the feeling of well-being according to the opinion of the child and adolescent. Results: The results suggest that adolescents with WBS have a good quality of life despite presenting greater possibilities of psychiatric symptoms. These results are valid considering that quality of life is measured from the opinion of the assessed individual. Conclusion: We hypothesized that adolescents with WBS can present a distortion of reality regarding the positive/optimistic factor, possibly based on some characteristics of the syndrome such as being always cheerful and smiling, which are factors associated with intellectual disability

Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings

Williams syndrome (WS) is rare genetic form of mental retardation caused by a micro-deletion on chromosome 7q11.23 that causes cognitive impairment and a variety of physical abnormalities. MRI studies of WS have demonstrated a series of brain abnormalities, including decreased brain size, with a relatively greater decrease in the volume of the cerebral white matter volume as compared to the cerebral gray matter. Moreover there is evidence that the posterior cerebrum is more affected in that persons with WS have a greater ratio of frontal to posterior regional volume. These findings are further supported by automated analyses that have shown reduced gray matter density in the superior parietal lobe areas. Functional MRI studies have demonstrated hypofunction immediately adjacent to, and anterior to, the intraparietal sulcus, a region in which structural brain differences had been identified. These anatomical and functional differences are consistent with the neuropsychological profile of WS - in particular, with evidence of dorsal stream visual processing deficits. To date, however, studies have always been performed in comparison to intellectually average controls. it is not clear, therefore, if findings are specific to the WS population or whether they represent a morphological disturbance characteristic of mental retardation, irrespective of genetic etiology. in this article, we reviewed recent advances underlying the structural and functional neural substrate of WS in Medical Literature Analysis and Retrieval System Online (MEDLINE; 1997-2007). (C) 2008 European Paediatric Neurology Society. Published by Elsevier B.V. All rights reserved.Universidade Federal de São Paulo, LiNC, BR-04026001 São Paulo, BrazilYale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USAInst Sinapse Neurociencias Clin, São Paulo, BrazilInst Bairral Psiquiatria, São Paulo, BrazilUniversidade Federal de São Paulo, LiNC, BR-04026001 São Paulo, BrazilWeb of Scienc