The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment
ABSTRACT This study is part of a larger UK-wide study investigating psychiatric illness in people with Prader-Willi syndrome (PWS), and describes the longitudinal aspect of psychiatric illness, in particular psychotic illness, and examines the use and role of psychotropic medication.
A total of 119 individuals with genetically confirmed PWS were included in the study. An informant-based questionnaire was administered for each participant to screen for a history of psychopathology. Those who screened positive were visited at their homes to obtain further information. This assessment included a full psychiatric history and mental state examination using the Psychiatric Assessment Schedule for Adults with Developmental Disability and the Operational Criteria Checklist for psychotic and affective illness to collect information regarding phenomenology and course of illness, and a modified life events questionnaire. At the end of the study period, informant-based telephone interviews were again carried out, up to 2.5 years after the initial screening. Information regarding medication usage was collected.
The results confirm previous findings that psychiatric illness in people with PWS resembles an affective disorder. Individuals with the maternal uniparental disomy genetic subtype had a more severe course of illness than those with the deletion genetic subtype in terms of a greater risk of recurrence, more episodes, higher incidence and a possibly poorer response to medication with more side-effects. Individuals with a recurrent episode during the follow-up period had a poorer course of illness. Selective serotonin reuptake inhibitor medication is frequently used, and beneficial effects may reflect fundamental pathological processes in PWS. Mood-stabilizing medication was found to be of little benefit and reasons for this are examined.
The longitudinal course of psychiatric illness and response to medication in people with PWS is fully described. Further research is needed regarding the effect of psychotropic medications, particularly mood-stabilizing medication. These data will enable informed decisions to be made regarding management options and provide information on the possible long-term outcome of illness.
- SourceAvailable from: Yasuhiro Kido[Show abstract] [Hide abstract]
ABSTRACT: This study aimed to measure quality of life (QOL) of the primary family caregivers for patients with Prader-Willi syndrome (PWS). Comparisons were made between caregivers' QOL in regard to their dependents' genotype and age group. The participants with PWS consisted of 22 children (aged from 6 to 12 years) and 23 adolescents (aged from 13 to 19 years), including 6 children and 7 adolescents with maternal uniparental disomy (mUPD) and 16 children and 16 adolescents with deletion (DEL). The QOL of the primary family caregiver for each patient was assessed using the Japanese version of the WHOQOL-BREF. To examine the effect that age (children vs. adolescents) and genotype (DEL vs. mUPD) have on the QOL of caregivers, a two-way ANOVA was conducted, followed by the Bonferroni procedure to test the simple main effects. The two age groups and the two genotypes of PWS were used as independent variables and the total QOL of caregivers as a dependent variable. The two-way ANOVA (F(1, 41) = 6.98, P < 0.05), followed by the Bonferroni procedure, showed the following: the total QOL of caregivers of DEL adolescents showed little difference from that with DEL children, but the QOL of caregivers for mUPD adolescents was shown to be lower than that with mUPD children along with that of caregivers with DEL adolescents. There is hence a growing tendency for the deterioration in the QOL of caregivers to manifest itself later in the patients' adolescence, found mainly with mUPD patients. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 09/2014; 164A(9). DOI:10.1002/ajmg.a.36634 · 2.05 Impact Factor
- [Show abstract] [Hide abstract]
ABSTRACT: Background Obsessive-compulsive (O-C) traits, and excessive food intake are well known behavioural manifestations among individuals with Prader-Willi Syndrome (PWS). Other unwanted behaviours are also frequently observed, but they need a more specific investigation, especially in the adult population. Methods The behaviour of 31 PWS adults was investigated via the Symptom Checklist-90-Revised (SCL-90-R), the Yale-Brown Obsessive Compulsive Scale Symptom Checklist (Y-BOCS-SC), and the Prader-Willi Behavioural Checklist (PBC). The PBC is a quick screening questionnaire prompted specifically for the investigation on adults with PWS. ResultsStatistical clustering revealed two patterns of unwanted behaviours from the PBC. Behaviours belonging to the first cluster (e.g. Excessive food intake, Skin picking) appear to be linked to the usual phenotypic manifestation of PWS. By contrast, many other behaviours (e.g. some O-C symptoms and aggressive actions) could show a relationship also to individual psychopathologies. Conclusions Both internal (Anxiety and Depression) and external (Hostility) difficulties in managing impulses should account for individually distinct behaviours in adults with PWS.Journal of Applied Research in Intellectual Disabilities 04/2013; 26(6). DOI:10.1111/jar.12047 · 1.38 Impact Factor
- [Show abstract] [Hide abstract]
ABSTRACT: Background: Prader-Willi syndrome (PWS) is a complex human genetic disease that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13.Prader-Willi syndrome. Objective: To use whole genome array to investigate observed Prader-Willi phenotype by assaying differential gene expression patterns in Prader-Willi like subjects. Methodology: Combined clinical and laboratory study. Three people who participated in a large study of Prader-Willi syndrome (PWS) were found to satisfy the criteria for a firm clinical diagnosis of the syndrome using the accepted consensus scores. A score of 8 is considered to be diagnostic for PWS but despite all three scoring >8, they were genetically negative for PWS. By using Affymetrix Cytogenetics Whole-Genome 2.7M arrays which identify both loss and gain in genomic DNA and also report loss of heterozygosity regions in which all three participants showed the same genomic abnormality were determined. By comparing these regions with the UCSC human genome database, a list of potential candidate genes was compiled in which the participants had all shown the same change. Confirmation of altered gene expression was sought using qPCR to study transcription levels in each of the genes identified. Results: Three people who participated in the study showed both maternal and paternal bands after methylation-specific PCR and they all expressed SNRPN. Increase in copy number with concomitant elevated transcription levels were found in SGSM2 which had previously been associated with severe obesity and in the protein-folding gene PPIF. Conclusion: Over-expression caused by duplication may be a contributing factor to the PWS-like phenotype in these people.