Cabral Ana Paula Corrêa, Horovitz Dafne Dain Gandelman, Santos Lidiane Nogueira, Carvalho Amanda Oliveira de, Wigg Cristina Maria Duarte, Castaneda Luciana, Simon Liane, Ribeiro Carla Trevisan Martins
National Institute of Women's, Children's and Adolescents' Health Fernandes Figueira (IFF/Fiocruz), Rio de Janeiro 22250-020, RJ, Brazil.
Psychology Institute, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-901, RJ, Brazil.
Children (Basel). 2024 Jun 25;11(7):767. doi: 10.3390/children11070767.
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).
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).
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.
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.
22q11.2 缺失综合征（DS）会对功能产生重大影响。目的是从生物心理社会角度描述有功能表现的 22q11.2DS 儿童，重点关注国际功能、残疾和健康分类（ICF）各领域中儿童健康状况的影响。
对七名 22q11.2DS 儿童进行描述性横断面病例系列研究。通过结构化访谈完成一份包含 22q11.2DS 的 ICF 清单问卷。使用韦氏儿童智力量表简式版（WASI）来确定智商（IQ）。
七名年龄在 7 至 12 岁的参与者存在一定程度的智商损害。观察到 22q11.2DS 儿童在 ICF 身体功能领域存在显著的智力、认知和言语损害。仅在一名患者中发现与鼻和咽相关的损害。在活动和参与部分中，最相关的被视为限制的类别涉及产生非言语信息、沟通、应对压力和社交互动。在环境因素部分，家庭、健康专业人员和熟人被视为促进因素。
该样本的功能受到超出身体结构和功能损害方面的影响。从 ICF 角度组织信息是一种有助于临床推理的不同方法。
