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. 2024 Jun 25;11(7):767.
doi: 10.3390/children11070767.

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

Ana Paula Corrêa Cabral  1 , Dafne Dain Gandelman Horovitz  1 , Lidiane Nogueira Santos  1 , Amanda Oliveira de Carvalho  1 , Cristina Maria Duarte Wigg  2 , Luciana Castaneda  3 , Liane Simon  4 , Carla Trevisan Martins Ribeiro  1
Affiliations

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

Ana Paula Corrêa Cabral et al. Children (Basel). .

Abstract

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.

Keywords: 22q11.2 deletion syndrome; International Classification of Functioning, Disability and Health; child; velo-cardio-facial syndrome.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Main findings related to the functionality of children and adolescents with 22q11.2DS.
See this image and copyright information in PMC

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