The 22q11.2 deletion syndrome from a biopsychosocial perspective: an ICF-based approach

Abstract

AbstractPurposeTo describe children with 22q11.2 deletion syndrome functioning from a biopsychosocial perspective, focusing on the impact of children’s health condition from domains to the International Classification of Functioning, Disability and Health (ICF).MethodsA descriptive, cross-sectional case series study with 22q11.2del children. A questionnaire with an ICF checklist for 22q11.2del was completed using a structured interview. The Test of Childhood Language ABFW was used to fill in vocabulary, fluency and language pragmatics questions. The Wechsler Abbreviated Scale of Intelligence (WASI) was used to determine Intelligence Quotient (IQ).ResultsSeven participants from 7 to 12 years old, presented some level of IQ impairment. Observed that 22q11.2del children experience significant intellectual, cognitive and speech impairment across ICF Body Function domains. Impairment related to nose and pharynx were found in only one patient. The most relevant categories considered limitations in Activity and Participation component were 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.ConclusionChildren with 22q11.2del have their functioning affected by aspects that go beyond medical diagnosis. A checklist base on ICF for functional profile can contribute to incorporate a biopsychosocial approach.