Psychiatric symptoms in Salla disease

Area of Science:

• Neuroscience
• Genetics
• Psychiatry

Background:

• Salla disease (SD) is a rare lysosomal storage disorder with a known neurological phenotype including intellectual disability, ataxia, and CNS demyelination.
• Psychiatric manifestations, particularly psychosis, have not been previously reported in the clinical spectrum of Salla disease.

Approach:

• Systematic review of medical records for 24 Salla disease patients diagnosed between 1982 and 2015 at Oulu University Hospital.
• Evaluation of the prevalence and types of psychiatric symptoms, including psychosis, sleep disorders, and behavioral issues.
• Detailed reporting of clinical characteristics for two adolescent patients who developed psychosis.

Key Points:

• Psychiatric symptoms were identified in 42% (10/24) of the Salla disease cohort.
• Two patients developed adolescent-onset psychosis.
• Other associated psychiatric factors included sleep disorders (32%), aggressive/restless behavior (25%), and off-label antipsychotic use (17%).

Conclusions:

• This study expands the known phenotypic spectrum of Salla disease to include psychiatric symptoms, notably psychosis.
• Recognizing and assessing psychiatric symptoms, including psychosis, is crucial for comprehensive patient care in Salla disease.
• Further research is warranted to understand the neurobiological underpinnings of psychiatric manifestations in Salla disease.