Prader–Willi syndrome in a large sample from Spain: general features, obesity and regular use of psychotropic medication

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research Pub Date : 2024-01-21 DOI:10.1111/jir.13123

P. J. González-Domenech, M. Gurpegui, C. M. González-Domenech, S. Gómez-González, A. Rustarazo, V. Ruiz-Nieto, M. D. Carretero, L. Gutiérrez-Rojas

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引用次数: 0

Abstract

Background

Prader–Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross-sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication.

Methods

Participants were recruited among all members of the Spanish Prader–Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication.

Results

The cohort included 177 participants (aged 6–48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only-child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis.

Conclusions

Characterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long-term application of GH therapy and the rational use of psychotropic medication.

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西班牙大样本中的普拉德-威利综合征：一般特征、肥胖和经常服用精神药物。

背景：普拉德-威利综合征（PWS）是一种由基因决定的疾病，是早发性肥胖症的最常见病因，与身体和认知功能障碍以及行为紊乱有关；这些紊乱通常需要接受精神药物治疗。这项横断面研究的目的是描述西班牙首个大型全国性 PWS 患者样本的特征，并分析这些特征与主要人口和临床因素的关系，特别是与肥胖和定期使用精神药物的关系：方法：从西班牙普拉德-威利协会的所有成员中招募同意参加研究并符合纳入标准的参与者。收集了经基因证实的PWS病例的家庭和患者人口特征、家庭规模和出生顺序、智商（IQ）、人体测量、生活习惯、行为障碍（使用异常行为检查表）和临床数据，以及精神药物的使用和副作用（使用UKU量表）。采用二元和逻辑回归分析确定人口统计学和临床因素与肥胖和定期使用精神药物的关系：组群包括 177 名参与者（6-48 岁），其中男性 90 名（50.8%），女性 87 名（49.2%）。75%至93%的参与者存在行为障碍，其中81人（45.8%）服用了精神药物。兄弟姐妹的数量与智商直接相关，尤其是男性，而独生子女女性的言语不当现象更为严重。同时，肥胖与年龄的增长和目前未接受生长激素（GH）治疗密切相关。服用任何精神药物的患者年龄多在 30 岁以上，多动程度高，并被诊断患有精神疾病：西班牙PWS患者的特征证实了他们的身体和行为表型，支持长期应用生长激素治疗和合理使用精神药物。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Intellectual Disability Research Multiple-

CiteScore

5.60

自引率

5.60%

发文量

期刊介绍： The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.