Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.
Adults with 22q11.2DS and their carers feel swamped and say mental-health services vanish after high school.
01Research in Context
What this study did
The team mailed a survey to the adults with 22q11.2 deletion syndrome and their caregivers.
They asked how hard it is to care for the adult and how happy they are with services.
Most adults also have intellectual disability and serious mood or behavior problems.
What they found
Caregivers said the work is very heavy and they feel let down by adult services.
Psychiatric and behavioral help was the top gap.
People wanted clearer paths when kids turn 18.
How this fits with other research
McIntyre et al. (2017) saw the same burden in teens with ID.
In that study younger, poorer carers quit research early because stress was too high.
The new paper shows the stress keeps growing after the teen years.
Hudson et al. (2012) and McMaughan et al. (2023) found kids and young adults with autism often land in the hospital when outpatient care is missing.
Together the studies trace one story: families carry heavy loads at every age and the service hand-offs keep failing.
Why it matters
If you serve adults with genetic or ID diagnoses, expect carers to be exhausted and to know little about adult mental-health systems.
Start transition planning before age 18, link families to psychiatric providers early, and schedule extra check-ins after big life changes.
Small steps like a phone call list of adult psychiatrists can cut later crisis calls.
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02At a glance
03Original abstract
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a common genetic subtype of intellectual disability (ID) remarkable for its constellation of congenital, developmental and later-onset features. Survival to adulthood is now the norm, and serious psychiatric illness is common in adults. However, little is known about the experiences and perceived needs of individuals with 22q11.2DS and their caregivers at time of transition from paediatric to adult models of care and beyond. METHOD: We administered a mail survey to 84 caregivers of adults with 22q11.2DS and 34 adult patients themselves, inquiring about medical and social services, perceived burden and major challenges in adulthood in 22q11.2DS. Standard quantitative and qualitative methods were used to analyse the responses. RESULTS: Fifty-three (63.1%) caregivers and 20 (58.8%) adults with 22q11.2DS completed the survey. Perceived burden was high, with psychiatric illness and/or behavioural issues considered the most challenging aspects of adulthood in 22q11.2DS by the majority of caregivers (70.0%) and many patients themselves (42.9%). Irrespective of the extent of ID and the presence or absence of other major features, caregivers expressed dissatisfaction with medical and social services for adults, including at time of transition from paediatric care. CONCLUSIONS: To our knowledge, this is the first study to examine the subjective experiences of adults with 22q11.2DS and their caregivers and to identify their perceived needs for services. Better awareness of 22q11.2DS and its later-onset manifestations, early diagnosis and treatment of psychiatric illness, additional support at time of transition and dedicated clinics for adults with 22q11.2DS may help to improve patient outcomes and reduce caregiver burden.
Journal of intellectual disability research : JIDR, 2014 · doi:10.1038/gim.2012.66