Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome: an exploratory study

Abstract

Patients with 22q11 deletion syndrome (22q11DS) have a 25-30% risk of developing schizophrenia, as well as an increased risk for other psychiatric illnesses including bipolar and schizo-affective disease. As a result, their families may be informed of a risk for psychotic illness years or even decades before the likely age of onset. We performed an exploratory study, surveying 41 caretakers of individuals with 22q11DS, and found that information about the association between 22q11DS and psychiatric disease was omitted at diagnosis a majority of the time and rarely addressed subsequently by pediatricians or other medical specialists, including medical geneticists. Families frequently received their information only from non-medical sources, principally the Internet. Individuals with 22q11DS often have many medical issues, but a majority of parents indicated that the risk of psychotic illness was their greatest source of anxiety. Looking at how predictive information affects those who receive it is an important adjunct to the development of genetic testing; the experience of these families suggests that in order to use the information to improve outcomes or modify risk it is necessary to receive it in the context of ongoing support and access to resources.