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

Ana Paula Corrêa Cabral1, Dafne Dain Gandelman Horovitz1, Lidiane Nogueira Santos1

  • 1National Institute of Women's, Children's and Adolescents' Health Fernandes Figueira (IFF/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil.

Children (Basel, Switzerland)
|July 27, 2024
PubMed

Insights

Children with 22q11.2 deletion syndrome (DS) experience significant intellectual, cognitive, and speech impairments. Functioning is impacted by more than just body impairments, with social and communication challenges noted.

Area of Science:

  • Pediatric Health
  • Genetics
  • Rehabilitation Medicine

Background:

  • 22q11.2 deletion syndrome (22q11.2DS) significantly impacts child functionality.
  • A biopsychosocial perspective is crucial for understanding these impacts.
  • The International Classification of Functioning, Disability, and Health (ICF) provides a framework for assessment.

Purpose of the Study:

  • To describe the functioning of children with 22q11.2DS.
  • To analyze the impact of health conditions on functioning using ICF domains.
  • To explore the biopsychosocial factors influencing functionality in 22q11.2DS.

Main Methods:

  • Descriptive, cross-sectional case series of seven children with 22q11.2DS.
  • Utilized a structured interview with an ICF checklist tailored for 22q11.2DS.
  • Assessed intellectual functioning using the Wechsler Abbreviated Scale of Intelligence (WASI).

Main Results:

  • Participants (ages 7-12) showed varying degrees of IQ impairment.
  • Significant intellectual, cognitive, and speech impairments were observed across ICF Body Function domains.
  • Limitations in Activity and Participation included nonverbal communication, stress management, and social interaction; environmental factors like family and professionals were facilitators.

Conclusions:

  • Child functioning in 22q11.2DS is influenced by factors beyond physical impairments.
  • The ICF framework offers a valuable approach for clinical reasoning and understanding complex functional profiles.
  • Holistic assessment is essential for supporting children with 22q11.2DS.

Keywords:
22q11.2 deletion syndromeInternational Classification of Functioning, Disability and Healthchildvelo-cardio-facial syndrome

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