Aulanko, I., Rahikkala, E. & Moilanen, J. Psychiatric symptoms in Salla disease. Eur Child Adolesc Psychiatry (2022). https://doi.org/10.1007/s00787-022-02031-5
Psychiatric symptoms in Salla disease
|Author:||Aulanko, Ida1,2,3,4; Rahikkala, Elisa1,2,5,4; Moilanen, Jukka1,2,4|
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
|Online Access:||PDF Full Text (PDF, 0.3 MB)|
|Persistent link:|| http://urn.fi/urn:nbn:fi-fe2022102763546
|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.
European child & adolescent psychiatry
|Type of Publication:||
A1 Journal article – refereed
|Field of Science:||
3124 Neurology and psychiatry
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 (Academy of Finland Funding decision)
© The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.