L Shriki-Tal1, H Avrahamy2, Y Pollak3, V Gross-Tsur3, L Genstil2, H J Hirsch2, F Benarroch4. 1. PWS Multidisciplinary Clinic, Child Neurology Unit, Shaare Zedek Medical Center, POB 3235, 9103102 Jerusalem, Israel; Beer-Yaacov Nes-Ziona Mental Health Center, POB 1, 74100 Nes-Ziona, Israel. 2. PWS Multidisciplinary Clinic, Child Neurology Unit, Shaare Zedek Medical Center, POB 3235, 9103102 Jerusalem, Israel. 3. PWS Multidisciplinary Clinic, Child Neurology Unit, Shaare Zedek Medical Center, POB 3235, 9103102 Jerusalem, Israel; School of Education, The Hebrew University of Jerusalem, Mount Scopus, 91905 Jerusalem, Israel. 4. PWS Multidisciplinary Clinic, Child Neurology Unit, Shaare Zedek Medical Center, POB 3235, 9103102 Jerusalem, Israel; Herman Dana Division of Child and Adolescent Psychiatry, Hadassah-Hebrew University Medical Center, POB 24035, Mount Scopus, 91240 Jerusalem, Israel. Electronic address: fortuben@hadassah.org.il.
Abstract
BACKGROUND: Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. METHODS: We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older. All individuals and their caretakers were interviewed using standardized psychiatric questionnaires. Demographic and clinical variables, Clinical Global Impression (CGI) score, IQ, severity of hyperphagia and quality of life (QOL) were also assessed and correlations with NPD (number of psychiatric diagnoses) calculated. RESULTS: An overwhelming majority (89%) of the study participants had at least one psychiatric diagnosis. The most common were disruptive behavior disorders (DBD) (68%), obsessive compulsive disorder (OCD) (45%) and skin picking (35%). Individuals with DBD were at increased risk for OCD and skin picking. Psychotic disorders were found in 11%. NPD had a significant negative influence on QOL. There was no correlation between NPD and BMI, IQ, hyperphagia severity, hormonal profile or genetic subtypes. CONCLUSIONS: Psychiatric diagnoses are very frequent in PWS and strongly influence QOL. Furthermore, characterizing the profile of psychiatric comorbidity in PWS is crucial for planning effective interventions. Precise behavioral phenotyping in PWS in combination with a well-defined genetic etiology may aid biological research linking biological correlates to behavior.
BACKGROUND:Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. METHODS: We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older. All individuals and their caretakers were interviewed using standardized psychiatric questionnaires. Demographic and clinical variables, Clinical Global Impression (CGI) score, IQ, severity of hyperphagia and quality of life (QOL) were also assessed and correlations with NPD (number of psychiatric diagnoses) calculated. RESULTS: An overwhelming majority (89%) of the study participants had at least one psychiatric diagnosis. The most common were disruptive behavior disorders (DBD) (68%), obsessive compulsive disorder (OCD) (45%) and skin picking (35%). Individuals with DBD were at increased risk for OCD and skin picking. Psychotic disorders were found in 11%. NPD had a significant negative influence on QOL. There was no correlation between NPD and BMI, IQ, hyperphagia severity, hormonal profile or genetic subtypes. CONCLUSIONS:Psychiatric diagnoses are very frequent in PWS and strongly influence QOL. Furthermore, characterizing the profile of psychiatric comorbidity in PWS is crucial for planning effective interventions. Precise behavioral phenotyping in PWS in combination with a well-defined genetic etiology may aid biological research linking biological correlates to behavior.
Authors: Jessica Mackay; Gillian M Nixon; Antony R Lafferty; Geoff Ambler; Nitin Kapur; Philip B Bergman; Cara Schofield; Chris Seton; Andrew Tai; Elaine Tham; Komal Vora; Patricia Crock; Charles Verge; Yassmin Musthaffa; Greg Blecher; Daan Caudri; Helen Leonard; Peter Jacoby; Andrew Wilson; Catherine S Choong; Jenny Downs Journal: J Autism Dev Disord Date: 2021-09-08
Authors: Felix Marbach; Magdeldin Elgizouli; Megan Rech; Jasmin Beygo; Florian Erger; Clara Velmans; Constance T R M Stumpel; Alexander P A Stegmann; Stefanie Beck-Wödl; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Christian P Schaaf; Alma Kuechler Journal: Orphanet J Rare Dis Date: 2020-10-19 Impact factor: 4.123