Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome

Abstract Background 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome. It exhibits broad phenotypic variability, often including conditions like autism spectrum disorder and intellectual disability. Caregivers of children with 22q11DS are known to be at increased risk of...

Full description

Saved in:
Bibliographic Details
Main Authors: Holly Carbyn, Abiaz Hossain, Raquel L. Dias, Lisa D. Palmer, Sophie Ayoub, Patricia Lingley-Pottie, Patrick J. McGrath, Andrea L. Rideout, Andrea Shugar, Cheryl Cytrynbaum, Donna M. McDonald-McGinn, Ann Swillen, Anne S. Bassett, Sandra Meier
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-025-03955-2
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849225936731373568
author Holly Carbyn
Abiaz Hossain
Raquel L. Dias
Lisa D. Palmer
Sophie Ayoub
Patricia Lingley-Pottie
Patrick J. McGrath
Andrea L. Rideout
Andrea Shugar
Cheryl Cytrynbaum
Donna M. McDonald-McGinn
Ann Swillen
Anne S. Bassett
Sandra Meier
author_facet Holly Carbyn
Abiaz Hossain
Raquel L. Dias
Lisa D. Palmer
Sophie Ayoub
Patricia Lingley-Pottie
Patrick J. McGrath
Andrea L. Rideout
Andrea Shugar
Cheryl Cytrynbaum
Donna M. McDonald-McGinn
Ann Swillen
Anne S. Bassett
Sandra Meier
author_sort Holly Carbyn
collection DOAJ
description Abstract Background 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome. It exhibits broad phenotypic variability, often including conditions like autism spectrum disorder and intellectual disability. Caregivers of children with 22q11DS are known to be at increased risk of poor mental health and less social support, which might affect their children’s health. The current study examined the relationship between parental mental health, perceived social support, and child mental health (internalizing/externalizing symptoms) in children with 22q11DS. Method Ninety caregivers of children with 22q11DS completed an online survey measuring parental depressive symptoms, perceived social support, and child mental health problems (internalizing and externalizing symptoms). Structural equation models were run to examine the postulated relationships between variables. Results The caregiver’s depressive symptoms were associated with higher internalizing and externalizing symptoms in their children with 22q11DS (mean age 11.8, SD 7.6 years). Caregivers experiencing symptoms of depression were less likely to report strong social support, and lower perceived social support was associated with greater child internalizing and externalizing symptoms. The relationship between caregiver’s depressive symptoms and internalizing symptoms in their children was mediated by perceived social support, but no such mediating effects were observed for externalizing symptoms. Conclusions These findings provide valuable insights into the mental health burdens facing families living with 22q11DS. Interventions focusing on 22q11DS should integrate techniques to foster social and other supports to improve the mental health of caregivers and children.
format Article
id doaj-art-b5f76c631d33403c83aab3541af5b0fd
institution Kabale University
issn 1750-1172
language English
publishDate 2025-08-01
publisher BMC
record_format Article
series Orphanet Journal of Rare Diseases
spelling doaj-art-b5f76c631d33403c83aab3541af5b0fd2025-08-24T11:50:07ZengBMCOrphanet Journal of Rare Diseases1750-11722025-08-0120111010.1186/s13023-025-03955-2Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndromeHolly Carbyn0Abiaz Hossain1Raquel L. Dias2Lisa D. Palmer3Sophie Ayoub4Patricia Lingley-Pottie5Patrick J. McGrath6Andrea L. Rideout7Andrea Shugar8Cheryl Cytrynbaum9Donna M. McDonald-McGinn10Ann Swillen11Anne S. Bassett12Sandra Meier13Department of Psychiatry, Dalhousie UniversityDepartment of Psychiatry, Dalhousie UniversityDepartment of Psychiatry, Dalhousie UniversityThe Dalgish Family 22Q Clinic, Department of Psychiatry and Division of Cardiology, Department of Medicine, and Toronto General Hospital Research Institute, University Health NetworkInstitute for Biomedical Ethics, University of BaselDepartment of Psychiatry, Dalhousie UniversityDepartment of Psychiatry, Dalhousie UniversityIWK Health Centre Department of Psychiatry and Specific Care ClinicsDivision of Clinical & Metabolic Genetics and the Department of Genetic Counselling, The Hospital for Sick ChildrenDivision of Clinical & Metabolic Genetics and the Department of Genetic Counselling, The Hospital for Sick ChildrenDivision of Human Genetics, 22Q and You Center, Clinical Genetics Center, and Section of Genetic Counselling, Children’s Hospital of PhiladelphiaCenter for Human Genetics, UZ LeuvenThe Dalgish Family 22Q Clinic, Department of Psychiatry and Division of Cardiology, Department of Medicine, and Toronto General Hospital Research Institute, University Health NetworkDepartment of Psychiatry, Dalhousie UniversityAbstract Background 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome. It exhibits broad phenotypic variability, often including conditions like autism spectrum disorder and intellectual disability. Caregivers of children with 22q11DS are known to be at increased risk of poor mental health and less social support, which might affect their children’s health. The current study examined the relationship between parental mental health, perceived social support, and child mental health (internalizing/externalizing symptoms) in children with 22q11DS. Method Ninety caregivers of children with 22q11DS completed an online survey measuring parental depressive symptoms, perceived social support, and child mental health problems (internalizing and externalizing symptoms). Structural equation models were run to examine the postulated relationships between variables. Results The caregiver’s depressive symptoms were associated with higher internalizing and externalizing symptoms in their children with 22q11DS (mean age 11.8, SD 7.6 years). Caregivers experiencing symptoms of depression were less likely to report strong social support, and lower perceived social support was associated with greater child internalizing and externalizing symptoms. The relationship between caregiver’s depressive symptoms and internalizing symptoms in their children was mediated by perceived social support, but no such mediating effects were observed for externalizing symptoms. Conclusions These findings provide valuable insights into the mental health burdens facing families living with 22q11DS. Interventions focusing on 22q11DS should integrate techniques to foster social and other supports to improve the mental health of caregivers and children.https://doi.org/10.1186/s13023-025-03955-222q11.2 deletion syndromeMental healthDepressionSocial supportMediation
spellingShingle Holly Carbyn
Abiaz Hossain
Raquel L. Dias
Lisa D. Palmer
Sophie Ayoub
Patricia Lingley-Pottie
Patrick J. McGrath
Andrea L. Rideout
Andrea Shugar
Cheryl Cytrynbaum
Donna M. McDonald-McGinn
Ann Swillen
Anne S. Bassett
Sandra Meier
Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome
Orphanet Journal of Rare Diseases
22q11.2 deletion syndrome
Mental health
Depression
Social support
Mediation
title Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome
title_full Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome
title_fullStr Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome
title_full_unstemmed Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome
title_short Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome
title_sort evaluating the relationship between caregiver depression social support and children s internalizing and externalizing symptoms in families affected by 22q11 2 deletion syndrome
topic 22q11.2 deletion syndrome
Mental health
Depression
Social support
Mediation
url https://doi.org/10.1186/s13023-025-03955-2
work_keys_str_mv AT hollycarbyn evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT abiazhossain evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT raquelldias evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT lisadpalmer evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT sophieayoub evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT patricialingleypottie evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT patrickjmcgrath evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT andrealrideout evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT andreashugar evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT cherylcytrynbaum evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT donnammcdonaldmcginn evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT annswillen evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT annesbassett evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome
AT sandrameier evaluatingtherelationshipbetweencaregiverdepressionsocialsupportandchildrensinternalizingandexternalizingsymptomsinfamiliesaffectedby22q112deletionsyndrome