Table 2.

Recurring themes in the caregiver and patient comments regarding adulthood in 22q11.2 deletion syndrome (22q11.2DS)

Themes	Comments
Caregiver themes	Representative caregiver comments
Insufficient knowledge regarding adult-onset (especially neuropsychiatric) conditions
Desire for more knowledge about the onset of new conditions, particularly psychiatric illness. Worry and uncertainty about future burden of caring for an adult with 22q11.2DS.	‘I was unprepared for the schizophrenia side of things.’ ‘The more information, the better our son’s life will be. We worry about his future. What to expect?… [We] just want our son to be happy. The more information available will help us help him.’
Lack of access to adequate social services
Insufficient understanding of the psychiatric/behavioural phenotype in 22q11.2DS among service providers. General dissatisfaction with the extent and appropriateness of social services available to adults with 22q11.2DS. Long waiting lists for services.	‘[Professional] Caregivers have been uncompassionate and uncaring when faced with challenging behaviours. A huge lack of training; she [the patient] got worse.’ ‘Co-ordination between services is non-existent. In general care-managers have been disappointing, particularly in the area of matching needs to programs.’
Issues related to ageing
Worries about the impact of their increasing age, declining personal health and decreasing level of energy. Concerns about the future care of the adult with 22q11.2DS once they are no longer able to act as principal caregiver.	‘I worry that my son will fall through the cracks when I am unable to look after him.’ ‘If our health fails, we’re through. Largest anxiety lies in what will happen when we die.’
Problems related to caring for an adult (cf. a child)
Their and others’ expectations of the adult with 22q11.2DS exceeding his/her abilities and level of competence. Challenges in managing the patient’s care due to his/her legal autonomy.	‘It’s very hard when they’re this age and still can’t manage to take care of themselves.’ ‘It is much more difficult to advocate for an adult than a child. Doctors, social workers, teachers etc. want the adult to ask/explain things themselves which can be next to impossible for adults with learning disabilities or with anxiety issues.’
Perceived burden on themselves and their families
Potential effects on the caregiver: feeling alone, stressed and overwhelmed. Strain on family relationships and processes (e.g. communication).	‘Families fall apart under the severity of this illness. You don’t know what you’re dealing with or how to help – or where to go. It is terrible.’ ‘The family provides much support that is at times beyond what we can bear. The added stress that this places on everyone makes life very difficult and strains familial relationships.’
Patient themes	Representative patient comments
Desire to better understand 22q11.2DS
Perceived gap in knowledge regarding 22q11.2DS and how they came to have this syndrome. Difficulties with information provided (e.g. because of literacy issues).	‘I would really like to have a better, or rather concrete understanding of how this syndrome is caused…. I understand that I brought the gene down to my son, but am confused as to how I obtained this 22q deletion as no one in my family has it.’ ‘I personally think that as an adult with 22q that I may not know enough.’
Need for greater knowledge of, and access to, social and employment services
Lack of awareness regarding available social services. Requests for employment advice and more help in increasing their independence.	‘I have a lot of help from my parents and my sisters but I’m not aware of any help outside the home. Is there a way to have less of a struggle in the work world?’ ‘I am unsure about the social/medical services available as I only recently found out I have 22q. (Perhaps more education about the syndrome would help.)’