University of Oulu

Aulanko, I., Rahikkala, E. & Moilanen, J. Psychiatric symptoms in Salla disease. Eur Child Adolesc Psychiatry (2022).

Psychiatric symptoms in Salla disease

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Author: Aulanko, Ida1,2,3,4; Rahikkala, Elisa1,2,5,4; Moilanen, Jukka1,2,4
Organizations: 1PEDEGO Research Unit, University of Oulu, Oulu, Finland
2Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland
3Doctoral Programme in Clinical Research, University of Helsinki, Helsinki, Finland
4Department of Clinical Genetics, Oulu University Hospital, OYS, P.O. Box 23, 90029, Oulu, Finland
5Institute of Biomedicine, University of Turku, Turku, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.3 MB)
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Language: English
Published: Springer Nature, 2022
Publish Date: 2022-10-27


Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological spectrum of SD’s clinical phenotype is well defined, psychotic symptoms in SD remain unreported. We reviewed the presence of psychiatric symptoms in patients diagnosed with SD. Medical records of all SD patients at Oulu University Hospital during the years 1982–2015 were systematically reviewed to evaluate the presence of psychiatric symptoms. Psychiatric symptoms were frequently associated with SD (10/24, 42%), and two patients were described as developing psychosis as adolescents. We reported their clinical characteristics in detail and assessed the prevalence of psychiatric symptoms in a cohort of 24 patients. Other psychiatric factors associated with SD were sleeping disorders (8/24, 32%), aggressive behaviour disorders or restlessness (6/24, 25%), and off-label antipsychotic medication (4/24, 17%). This report expands the knowledge of the phenotypic spectrum of SD and demonstrates the importance of recognising the possibility of psychiatric symptoms, including psychosis, in persons with SD.

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Series: European child & adolescent psychiatry
ISSN: 1018-8827
ISSN-E: 1435-165X
ISSN-L: 1018-8827
DOI: 10.1007/s00787-022-02031-5
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Funding: Open Access funding provided by University of Oulu including Oulu University Hospital. ER was supported by the Ester and Uuno Kokki Foundation of the Finnish Cultural Foundation and the Academy of Finland (decision number 338446).
Academy of Finland Grant Number: 338446
Detailed Information: 338446 (Academy of Finland Funding decision)
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