Abstract
Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. Methods: Treating physicians’ data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists. Results: Out of 386 NP-C patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available data. Forty-four patients were confirmed to have identifiable psychiatric manifestations, with text describing these psychiatric manifestations. In these 44 patients, the median (range) age at onset of psychiatric manifestations was 17.9 years (2.5–67.9; n = 15), while the median (range) age at NP-C diagnosis was 23.7 years (0.2–69.8; n = 34). Almost all patients (43/44; 98%) had an occurrence of ≥1 neurological manifestation at enrolment. Conclusions: These data show that substantial delays in diagnosis of NP-C are long among patients with psychiatric symptoms and, moreover, patients presenting with psychiatric features and at least one of cognitive impairment, neurological manifestations, and/or visceral symptoms should be screened for NP-C.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1-10 |
| Number of pages | 10 |
| Journal | World Journal of Biological Psychiatry |
| DOIs | |
| State | Accepted/In press - Oct 6 2017 |
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Keywords
- genetics
- Niemann-Pick disease type C
- Psychosis
- registry
- schizophrenia
ASJC Scopus subject areas
- Psychiatry and Mental health
- Biological Psychiatry
Cite this
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C) : Findings from the International NPC Registry. / Bonnot, Olivier; Gama, Clarissa S.; Mengel, Eugen; Pineda, Mercè; Vanier, Marie T.; Watson, Louise; Watissée, Marie; Schwierin, Barbara; Patterson, Marc C.
In: World Journal of Biological Psychiatry, 06.10.2017, p. 1-10.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C)
T2 - Findings from the International NPC Registry
AU - Bonnot, Olivier
AU - Gama, Clarissa S.
AU - Mengel, Eugen
AU - Pineda, Mercè
AU - Vanier, Marie T.
AU - Watson, Louise
AU - Watissée, Marie
AU - Schwierin, Barbara
AU - Patterson, Marc C.
PY - 2017/10/6
Y1 - 2017/10/6
N2 - Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. Methods: Treating physicians’ data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists. Results: Out of 386 NP-C patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available data. Forty-four patients were confirmed to have identifiable psychiatric manifestations, with text describing these psychiatric manifestations. In these 44 patients, the median (range) age at onset of psychiatric manifestations was 17.9 years (2.5–67.9; n = 15), while the median (range) age at NP-C diagnosis was 23.7 years (0.2–69.8; n = 34). Almost all patients (43/44; 98%) had an occurrence of ≥1 neurological manifestation at enrolment. Conclusions: These data show that substantial delays in diagnosis of NP-C are long among patients with psychiatric symptoms and, moreover, patients presenting with psychiatric features and at least one of cognitive impairment, neurological manifestations, and/or visceral symptoms should be screened for NP-C.
AB - Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. Methods: Treating physicians’ data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists. Results: Out of 386 NP-C patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available data. Forty-four patients were confirmed to have identifiable psychiatric manifestations, with text describing these psychiatric manifestations. In these 44 patients, the median (range) age at onset of psychiatric manifestations was 17.9 years (2.5–67.9; n = 15), while the median (range) age at NP-C diagnosis was 23.7 years (0.2–69.8; n = 34). Almost all patients (43/44; 98%) had an occurrence of ≥1 neurological manifestation at enrolment. Conclusions: These data show that substantial delays in diagnosis of NP-C are long among patients with psychiatric symptoms and, moreover, patients presenting with psychiatric features and at least one of cognitive impairment, neurological manifestations, and/or visceral symptoms should be screened for NP-C.
KW - genetics
KW - Niemann-Pick disease type C
KW - Psychosis
KW - registry
KW - schizophrenia
UR - http://www.scopus.com/inward/record.url?scp=85030865939&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85030865939&partnerID=8YFLogxK
U2 - 10.1080/15622975.2017.1379610
DO - 10.1080/15622975.2017.1379610
M3 - Article
AN - SCOPUS:85030865939
SP - 1
EP - 10
JO - World Journal of Biological Psychiatry
JF - World Journal of Biological Psychiatry
SN - 1562-2975
ER -