Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome

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.

Keywords: 22q11.2 deletion syndrome; adult; burden; caregivers; intellectual disability; schizophrenia.

Figure 1

Caregiver burden and perceived service needs in adulthood in 22q11.2 deletion syndrome (22q11.2DS). The wording of some items was reversed ([R]) in the actual survey and the ‘Neutral’ option was phrased as ‘Neither agree nor disagree’. (a) One hundred per cent stacked bar graphs displaying Likert scale responses to five items concerning caregiver needs and burden. The total number of caregiver responses to items 1 through 5 was 48, 50, 49, 49 and 53 respectively. (b) One hundred per cent stacked bar graphs displaying caregiver Likert scale responses to five items concerning medical and social service provision. The total number of caregiver responses to items 1 through 5 was 47, 43, 47, 49 and 49 respectively. (c) One hundred per cent stacked bar graphs displaying patient Likert scale responses to five items concerning medical and social service provision. The total number of adult responses to items 1 through 5 was 18, 19, 17, 19 and 18 respectively.

Figure 2

Major adult challenges perceived by caregivers and individuals with 22q11.2 deletion syndrome. Bar graphs displaying overall, and caregiver and patient subgroup, ranked responses to the question: ‘Which health and related problems have been most difficult for you (to manage) since you (he/she) turned 18?’ (a) Top ranked problem only. (b) Top three ranked problems. The ‘Other’ group included employment issues (a, b), and diabetes, memory problems, parkinsonism/ tremor and incontinence (b). Abbreviations are used for serious congenital heart disease (CHD), learning difficulties (LD) and intellectual disability (ID).