Systematic review of psychiatric signs in Niemann-Pick disease type C

Abstract

Objectives: We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: (1) time of occurrence of psychiatric manifestations relative to other disease manifestations; and (2) frequent combinations of psychiatric, neurological and visceral disease manifestations.

Methods: A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015.

Results: Of 152 identified publications 40 were included after screening that contained useable data from 58 NPC patients (mean [SD] age at diagnosis of NPC 27.8 [15.1] years). Among patients with available data, cognitive, memory and instrumental impairments were most frequent (90% of patients), followed by psychosis (62%), altered behavior (52%) and mood disorders (38%). Psychiatric manifestations were reported before or at neurological disease onset in 41 (76%) patients; organic signs (e.g., hepatosplenomegaly, hearing problems) were reported before psychiatric manifestations in 12 (22%). Substantial delays to diagnosis were observed (5–6 years between psychiatric presentation and NPC diagnosis).

Conclusions: NPC should be considered as a possible cause of psychiatric manifestations in patients with an atypical disease course, acute-onset psychosis, treatment failure, and/or certain combinations of psychiatric/neurological/visceral symptoms.

Keywords:

• Niemann-Pick disease type C
• psychiatric
• psychosis
• treatment
• systematic review

Acknowledgements

Medical writing assistance was provided by Matthew Reilly PhD at InTouch Medical Ltd, paid for by Actelion Pharmaceuticals Ltd.

Statement of interest

OB and MW have received research funding, consultancy fees and travel expenses from Actelion Pharmaceuticals Ltd. HHK has received consultancy fees and travel expenses from Actelion Pharmaceuticals Ltd. JvTM has received consulting fees from Actelion Pharmaceuticals Ltd. CV is a full-time employee of Actelion Pharmaceuticals Ltd.

Additional information

Funding

No funding was received for the conduct of this systematic literature review.