Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders

Orphanet Journal of Rare Diseases

Research

A. Morin¹  A. Ponchel²  Y. Nadjar³  G. Fernández-Eulate⁴  G. Carle⁵ 

[1] Department of Neurology, Rouen University Hospital, University of Rouen, 76000, Rouen, France;Department of Psychiatry, Rouvray Hospital, University of Rouen, 76000, Rouen, France;GHU Paris Psychiatrie & Neurosciences, Paris, France;Neuro-Metabolism Unit, Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, APHP, Paris, France;Neuro-Metabolism Unit, Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, APHP, Paris, France;Institut Necker-Enfants Malades, INSERM U1151, BioSPC (ED562), Université Paris Cité, Paris, France;Saint-Exupery Private Clinic, Toulouse, France;

关键词: Psychosis;    Neuropsychiatry;    Niemann-Pick type C;    Lysosomal storage disorders;    Behavioral disorders;   

DOI  :  10.1186/s13023-023-02851-x

 received in 2023-03-06, accepted in 2023-08-03,  发布年份 2023

来源: Springer

【 摘 要 】

ObjectivesTo describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning.MethodsWe retrospectively reviewed medical charts of NP-C-patients followed in the Lysosomal Diseases reference center in Paris Pitié-Salpêtrière. We collected demographic data, psychiatric clinical manifestations, psychometric scales, and extended neuropsychological data including executive and behavioral frontal lobe functions evaluations.ResultsNineteen patients were included in the study with ten of them having experienced at least one acute psychotic episode, being inaugural for six of them. Most of the patients suffered from behavioral (15/17) and cognitive disorders (18/19) (including executive dysfunction (11/12), apathy (13/17), impaired social cognition (11/13) and stereotyped behaviors (5/10). For five patients, quality of life was significantly impaired by these abnormal behaviors. Concerning frontal neuropsychological evaluation, Facial emotion recognition was by far the most performed neuropsychological test (n = 8) and the score was always abnormal. It is noteworthy that psychotic symptoms were often drug resistant (8/9) and that Miglustat was associated with a better control of psychotic symptoms.ConclusionsWe report a high frequency of psychiatric symptoms in NP-C encompassing acute psychotic manifestations, often presenting early in the course of the disease with atypical features. We also report disabling behavioral manifestations related to frontal dysfunction.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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