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普拉德-威利综合征中的精神病理障碍。

Psychopathological disorders in Prader-Willi syndrome.

作者信息

Guinovart Martí, Coronas Ramón, Caixàs Assumpta

机构信息

Servicio de Salud Mental, Hospital Universitari Parc Taulí, Universidad Autónoma de Barcelona, Sabadell (Barcelona), España.

Servicio de Salud Mental, Hospital Universitari Parc Taulí, Universidad Autónoma de Barcelona, Sabadell (Barcelona), España; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, España.

出版信息

Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):579-587. doi: 10.1016/j.endinu.2019.03.004. Epub 2019 Apr 18.

Abstract

Prader-Willi syndrome is a genetic disorder caused by chromosomal changes in segment 15q11-q13 including cognitive, mental, and behavioral symptoms, as well as a specific physical phenotype. Both the most common psychopathological changes (intellectual disability, obsessions, impulsivity, autism spectrum disorders, self-injuries) and the main psychiatric comorbidities (affective disorders, psychosis, obsessive-compulsive disorder, autism spectrum disorder) are characterized by a great heterogeneity, which warrants the need for better identification of their frequency and clinical signs. In addition to its effects on body compositionand hypotony, growth hormone has been shown to be useful for regulating patient behavior, and psychoactive drugs are also an option. Other alternatives have shown promising results in experimental trials. Adequate understanding of the psychopathology associated to Prader-Willi syndrome would allow for improving clinical approach, symptom identification, detection of comorbidities, and administration of more effective treatments, leading to better clinical outcomes.

摘要

普拉德-威利综合征是一种由15q11-q13区段染色体变化引起的遗传性疾病,包括认知、心理和行为症状,以及特定的身体表型。最常见的精神病理变化(智力残疾、强迫观念、冲动、自闭症谱系障碍、自我伤害)和主要的精神科合并症(情感障碍、精神病、强迫症、自闭症谱系障碍)都具有很大的异质性,这就需要更好地确定它们的发生率和临床症状。除了对身体成分和肌张力减退有影响外,生长激素已被证明对调节患者行为有用,精神活性药物也是一种选择。其他替代方法在实验试验中已显示出有希望的结果。充分了解与普拉德-威利综合征相关的精神病理学将有助于改善临床方法、症状识别、合并症检测以及更有效治疗的给药,从而带来更好的临床结果。

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