Psychiatric illness in a cohort of adults with Prader-Willi syndrome.
Adults with Prader-Willi and mUPD carry a 64 % chance of major psychiatric illness, so routine mental-health screening is essential.
01Research in Context
What this study did
Sinnema et al. (2011) looked at 75 Dutch adults with Prader-Willi syndrome. They split the group by genetic type: some had the common deletion, others had maternal uniparental disomy (mUPD). Every adult saw a psychiatrist. The team counted who had mood, anxiety, or psychotic illness.
What they found
Psychiatric illness showed up in 17 % of the deletion group. It jumped to 64 % in the mUPD group. The mUPD adults often had psychosis or bipolar-like swings. The deletion adults had milder mood issues. The authors say screen all adults with PWS, but watch the mUPD group extra close.
How this fits with other research
Clarke et al. (1998) first said psychosis can hit any PWS genotype. Margje et al. now show the risk is far higher with mUPD, so the earlier view was too broad.
Mansell et al. (2002) traced toddler behavior to later illness: active kids → psychosis, quiet kids → mood issues. Margje’s numbers back this split, but only for mUPD adults.
Evans et al. (1994) sketched three rough psychiatric profiles in PWS. Margje et al. replace the sketch with hard prevalence data split by genetics, so the 1994 taxonomy is now outdated.
Why it matters
If you support adults with Prader-Willi, add a brief psychosis checklist to every annual visit. For clients with mUPD, schedule a full psychiatric review at least once a year. Early pick-up means earlier mood stabilizers or antipsychotics, fewer crises, and better quality of life.
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02At a glance
03Original abstract
Previous studies have suggested an association between PWS and comorbid psychiatric illness. Data on prevalence rates of psychopathology is still scarce. This paper describes a large-scale, systematic study investigating the prevalence of psychiatric illness in a Dutch adult PWS cohort. One hundred and two individuals were screened for psychiatric illness. Case vignettes were written by the first author on 63 individuals with a positive screening on psychopathology according to the interviews, medical history, medication use and behavioural questionnaires. These case vignettes were rated by two psychiatrists specializing in intellectual disability (ID). Psychopathology was divided into four diagnostic categories: bipolar disorder with psychotic symptoms, psychotic illness, depressive illness with psychotic symptoms and depressive illness without psychotic symptoms. Nine out of 53 persons (17%) with a 15q11-13 deletion and 28 out of 44 (64%) persons with maternal uniparental disomy (mUPD) were diagnosed with a current or previous psychiatric illness. Depressive illness with psychotic symptoms was the cause of psychiatric problems in the majority of persons with PWS due to deletion (56%). In the case of mUPD, almost all individuals with histories of psychopathology suffered from psychotic symptoms (85%) with or without affective component. Psychiatric examination should be part of general management of adults with PWS, especially when caused by mUPD. More attention should be paid to the presence of precursor symptoms, indicating a developing psychiatric episode. Longitudinal studies are needed to gain more insight into the natural history of psychiatric illness in adults with PWS.
Research in developmental disabilities, 2011 · doi:10.1016/j.ridd.2011.02.027