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: M. Constantine SamaanCurrent Psychiatry Reviews 07/2014; 10(2):168-180. DOI:10.2174/1573400510666140319234658
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ABSTRACT: Individuals with Prader–Willi syndrome (PWS) have a significant reduction in the number of oxytocin-producing neurons (42%) in the hypothalamic paraventricular nucleus. A number of animal studies and observations of humans show that lesions in this region can produce PWS-like symptoms. Given the evidence for potential oxytocin deficiency, we tested the effects of a course of intranasal oxytocin on PWS symptoms. Thirty individuals with PWS aged 12–30 years participated in an 18-week randomized double-blind placebo-controlled crossover trial. Participants received 8 weeks of oxytocin and 8 weeks of placebo with a minimum 2-week washout period. The first 11 participants received the following oxytocin doses: 24 IU (twice daily) B.I.D for participants 16 years and over and 18 IU B.I.D for participants 13–15 years. The dose was increased for the remaining 18 participants to 40 IU B.I.D for participants 16 years and over and 32 IU B.I.D for 13–15 years. Measures used to assess changes were standardized well-accepted measures, including the Developmental Behavior Checklist—Monitor, Parent, Teacher, and Adult; The Yale-Brown Obsessive Compulsive Scale; The Dykens Hyperphagia questionnaire; Reading The Mind in the Eyes Test; Epworth Sleepiness Scale and the Movie Stills. Oxytocin had little impact on any measure. The only significant difference found between the baseline, oxytocin, and placebo measures was an increase in temper outbursts (P = 0.023) with higher dose oxytocin. The lack of effect of oxytocin nasal spray may reflect the importance of endogenous release of oxytocin in response to exogenous oxytocin. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 09/2014; 164A(9). DOI:10.1002/ajmg.a.36653 · 2.30 Impact Factor
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ABSTRACT: Prader–Willi syndrome (PWS) is a genetic multisystem disorder with various medical, cognitive, behavioral and psychiatric problems. PWS is caused by the lack of expression of paternal genes on chromosome 15q2-q13 due to a deletion (70–75%), uniparental disomy (25–30%) or imprinting center defect (<5%). The common PWS behavioral and psychiatric characteristics are very typical in all ethnicities and were reported worldwide. Still, each individual has a specific profile of these common traits and the severity of his or her symptoms varies over time. Behavioral problems are the most important factor affecting the quality of life of both the individuals and their families. There is a need for a standardized tool to assess the specific behavioral profile of each individual and its present severity, in order to enable physicians to tailor the specific treatment needed and assist in a more accurate clinical follow up. To the best of our knowledge no such a tool has been standardized and published. We developed, based on the literature (mainly Forster and Gourash's paradigm) and our clinical experience, a 37 item disease specific questionnaire, the “PWS Behavioral Questionnaire” (PWSBQ) for assessing behavior in PWS patients. The purpose of the present study was to validate this tool in the entire adolescent and adult PWS population in Israel.Comprehensive Psychiatry 12/2014; DOI:10.1016/j.comppsych.2014.12.005 · 2.26 Impact Factor