The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.

The 22q11.2 deletion syndrome (DS) can have a significant impact on functionality. The purpose was to describe 22q11.2DS children with functioning from a biopsychosocial perspective, focusing on the impact of children's health condition from domains of the International Classification of Functioning, Disability, and Health (ICF). METHODS: A descriptive, cross-sectional case series study with seven 22q11.2DS children. A questionnaire with an ICF checklist for 22q11.2DS was completed using a structured interview. The Wechsler Abbreviated Scale of Intelligence (WASI) was used to determine the Intelligence Quotient (IQ). RESULTS: Seven participants from 7 to 12 years old, presented some level of IQ impairment. It was observed that 22q11.2DS children experience significant intellectual, cognitive, and speech impairments across ICF Body Function domains. Impairments related to nose and pharynx were found in only one patient. The most relevant categories considered limitations in the Activity and Participation components pertained to producing nonverbal messages, communication, handling stress, and social interaction. Family, health professionals, and acquaintances were perceived as facilitators in the component Environmental Factors. CONCLUSION: The sample has its functioning affected by aspects that go beyond impairments in body structure and function. The organization of information from the perspective of the ICF is a different approach that helps clinical reasoning.

General, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11-2 deletion syndrome / Funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com síndrome de deleção 22q11-2

BACKGROUND: Cognitive dysfunctions are frequently found in the 22q11.2 Deletion Syndrome, being an aggravating factor in the impairment of social relationships and communication, strongly impacting the functionality of the individual. Increasing the knowledge regarding cognitive skills may provide contributions to the diagnostic process and the intervention planning. OBJECTIVES: To estimate the general, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11.2 Deletion Syndrome. METHODS: This is a cross-sectional, descriptive, and case series study regarding 15 individuals between 7-18 years-old diagnosed with 22q11.2 Deletion Syndrome. An assessment of the cognitive functions was performed using the Wechsler Abbreviated Scale of Intelligence (WASI). For data analysis we used a descriptive statistics analysis, having absolute frequencies for variables, and mean, median, standard deviation, minimum and maximum values for numerical variables. RESULTS: In the group analysis, we observed an important cognitive impairment degree. Most of the sampling (n=8; 53.33%) presented a considerably low total intelligence quotient score. Cases showing lower performances also presented greater difficulties regarding Visual Motor and Visuospatial coordination. Regarding the intelligence quotient representative punctuation in the WASI scale, the sample showed a large variability in the results (between 40 and 92 points), with the median total of 83. CONCLUSIONS: We observed important dysfunctions, cognitive difficulties, and intellectual, verbal, and non-verbal disabilities in the population studied. These findings indicate the need for an early intervention to assist not only the cognitive aspect, but also the socio-emotional development of children with the 22q11.2 Deletion Syndrome, aiming at their participation in society.

FUNDAMENTO: Disfunções cognitivas são frequentemente encontradas na Síndrome de Deleção 22q11.2, sendo um agravante no comprometimento das relações sociais e da comunicação, impactando fortemente na funcionalidade do indivíduo. O aumento do conhecimento sobre as habilidades cognitivas pode trazer contribuições no processo diagnóstico e no planejamento da intervenção. OBJETIVO: Estimar o funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com Síndrome de Deleção 22q11.2. MÉTODOS: Estudo transversal, descritivo, tipo série de casos, com 15 indivíduos entre 7-18 anos com diagnóstico da Síndrome de Deleção 22q11.2. A avaliação das habilidades cognitivas foi realizada com a Escala Wechsler Abreviada de Inteligência (WASI). Para análise dos dados, foi utilizada análise estatística descritiva, com frequências absolutas para variáveis, e média, mediana, desvio padrão, mínima e máximo para variáveis numéricas. RESULTADOS: Na análise do grupo, observou-se um importante grau de comprometimento cognitivo. A maior parte da amostra (n=8; 53,33%) mostrou quociente de inteligência total extremamente baixo. Os casos com desempenhos mais baixos apresentaram maiores dificuldades em relação às habilidades de coordenação visuomotora e visuoespacial. Em relação à pontuação representativa do quociente de inteligência na escala WASI, a amostra apresentou uma grande variabilidade de resultados (entre 40 a 92 pontos), com mediana total de 83 pontos. CONCLUSÕES: As dificuldades cognitivas encontradas indicam a necessidade de uma intervenção precoce para auxiliar não só no desenvolvimento cognitivo, mas socioemocional de crianças com a Síndrome de Deleção 22q11.2 visando sua participação na sociedade.