Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches

Abstract

Portrayals of individuals with Williams syndrome (WS), a genetic disorder caused by a microdeletion of ~25 genes on chromosome 7q11.23, have reached the general public through a variety of media formats. These descriptions are often paradoxical in nature with individuals with WS repeatedly described as demonstrating near-normal language despite the presence of significant intellectual disability and as being extremely sociable and friendly in spite of their seemingly limited understanding of basic social norms. While this depiction of WS served to attract the interest of basic-science researchers, the results of subsequent studies have provided a more nuanced view. For example, rather than across-the-board "near-normal" language, children with WS demonstrate relative strengths in concrete vocabulary and verbal short-term memory, grammatical abilities at the level expected for general intellectual ability, and considerable weakness in relational/conceptual language and pragmatics (social use of language). To provide a more thorough characterization of the WS behavioral phenotype, we summarize recent findings related to intellectual ability, language development, memory development, executive function development, adaptive behavior skills, and behavior as it relates to learning by children with WS. Finally, we briefly discuss intervention approaches that may help children with WS to achieve their full potential.

Profiles and Development of Adaptive Behavior in Adolescents and Adults with Williams Syndrome

“…Williams Syndrome (WS) is a neurodevelopmental disorder characterized by a distinctive cognitive and personality profile [1], [2]. The cognitive phenotype of WS is characterized by relative strengths in auditory rote memory and language, and relative weakness in visuospatial perception, construction, and integration.…”

Competências escolares e sociais em crianças e adolescentes com Síndrome de Williams

“…Os indicadores comportamentais de desatenção e hiperatividade verificados no Quadro 2 indicam que esses problemas devem ser tomados em consideração para o desenvolvimento de estratégias individuais de inclusão escolar. Em situação de sala regular é provável que esses participantes, na condição de alunos, apresentem dificuldades para acompanhar as lições, fracionar tarefas escolares, sustentar a atenção e inibir respostas frente estímulos ambientais alheios às tarefas escolares, dentre outras (MARTINUSSEN; TANNOCK, 2006;LUBKE et al, 2007;RHODES et al, 2011 Observa-se no Quadro 2 que os dados do QI estimado são compatíveis com o nível de defi ciência intelectual leve a moderado como é característico da população com SW (MERVIS; JOHN, 2010). No que diz respeito a competências escolares de acordo com o relato das mães dos participantes na fi gura 1 verifi couse que em 20 crianças as mães avaliam o desempenho destes nas matérias português, história, matemática e ciências como insufi ciente ou pior que a média exigida pela escola.…”

“…Figura 1 -Distribuição percentual de classifi cação de desempenho escolar de crianças e adolescentes conforme avaliação das mães no CBCL/6-18 Estudos sobre alfabetização de crianças, adolescentes e adultos com SW são escassos e controversos (BELLUGI et al, 1994;CARDOSO-MARTINS;SILVA, 2008;CLAHSEN;ALMAZAN, 1998;DAVIES;MONNERY et al, 2002), mas alguns trabalhos apontam para possibilidades de alfabetização mediante uso de estratégias de estimulação fonológica haja vista a preservação de habilidades expressivas e receptivas de linguagem que muitos deles apresentam (KARMILOFF-SMITH et al, 1998;SEGIN, 2010). Por exemplo, Laing e colaboradores (2001) publicaram um trabalho cujo objetivo foi comparar o efeito de um programa de estimulação de consciência fonológica sobre habilidades de aprendizagem de leitura entre dois grupos de crianças pareados em função de idade de leitura e vocabulário receptivo: um grupo com SW e outro com desenvolvimento típico cuja diferença de idade cronológica entre ambos os grupos foi de 6 anos.…”

Mood Disorders in Individuals with Genetic Syndromes and Intellectual Disability

“…Previous studies that used behavior problems assessment scales verified the prevalence of behavioral indicators of depression, almost always associated with anxiety and somatic complaints (Pérez-García, et al, 2011). Also about the contrasts between excesses and deficits in abilities, in a systematic review study on WBS (Mervis & John, 2010), underscore the high rate of social interactions that they establish and social abilities deficits observed during these interactions. Some of these contrasts are likely to contribute to the development of affective problems, especially concerning hypersociability and, at the same time, lack of social abilities that can end up with the individual's withdrawal.…”

“…The syndrome is characterized by different cognitive and behavioral alterations (Porter & Dodd, 2011). Typical cognitive patterns of the syndrome's phenotype are: intellectual disability in various degrees, neuropsychomotor development delay in the first years of life, good performance in tasks that require the use of expressive language, impairment in receptive language abilities, syntactic-pragmatic, structural and functional alterations of language, use of clichés, sound effects, intonation resources, echolalia, deficits in visuospatial abilities, attention deficit, alterations in executive functions that involve work memory, inhibitory control and planning of task accomplishment (Mervis & John, 2010;Teixeira et al ,2010).…”