Researchers to Clinicians: Don’t Neglect the Neuropsychiatric Symptoms of Friedreich’s Ataxia

Friedreich’s Ataxia © Dzmitry - stock.adobe.com

A study recently published in Nature Scientific Reports explored neuropsychiatric symptoms in individuals with Friedreich’s ataxia (FRDA), a hereditary neurodegenerative disorder. FRDA patients demonstrated higher rates of depression and anxiety and decreased motivation compared with healthy controls.Moreover, neuropsychiatric symptoms in FRDA may be a consequence of neurodegeneration and the burden of living with a progressive disease.

The cerebellum is the part of the brain that is responsible for a range of cognitive and emotional behaviors as well as motor control. As a result, cognitive and neuropsychiatric impairment is a hallmark of many cerebellar disorders. Cerebellar disorders with a neurodegenerative course, such as FRDA, can lead to personality changes, flattened emotions and altered mood regulation.

Researchers have documented neuropsychiatric symptoms in other neurodegenerative diseases, but a gap remains in understanding how neuropsychiatric symptoms affect the quality of life and activities of daily living of people with FRDA. Of the studies that had assessed individuals with FRDA for psychiatric conditions, many lacked agreement on which conditions afflicted FRDA patients.

Corresponding author Martin Vyhnalek, M.D., Ph.D., from Charles University in Prague, Czech Republic, and colleagues aimed to assess the presence and severity of various neuropsychiatric symptoms and their relationship with disease severity, cognition and quality of life.

FRDA patients were recruited from the Center of Hereditary Ataxias in Prague. Vyhnalek and colleagues confirmed with genetic tests that they had FRDA. All were older than 16. The control group consisted of age and education-matched healthy volunteers without cognitive complaints, a history of brain disease or a medical condition that would potentially cause neuropsychiatric symptoms.

The researchers used the Mild Behavioral Impairment Checklist (MBI-C) to measure the presence and severity of neuropsychiatric symptoms in FRDA patients and to compare the symptoms with healthy controls. The MBI-C was originally used to measure neuropsychiatric symptoms of people with Alzheimer’s disease and motor disorders in people with amyotrophic lateral sclerosis and Parkinson’s. The checklist helps study neuropsychiatric symptoms in FRDA by providing a comprehensive and sensitive tool to detect early and subtle changes in behavior, mood and personality. The checklist was also administered to informants of individuals with FRDA, which may have included family members and close friends.

The MBI-C questionnaire assesses neuropsychiatric symptoms across five main domains: decreased motivation, emotional dysregulation, lack of impulse control, social inappropriateness and abnormal perception or thought control. These domains help provide a comprehensive assessment of various neuropsychiatric symptoms in individuals with neurodegenerative diseases, including FRDA. ​

Individuals with FRDA exhibited significant neuropsychiatric symptoms, particularly in the domains of emotion dysregulation (which encompasses symptoms of depression and anxiety) and decreased motivation. Patients with FRDA had higher scores on the MBI-C than healthy controls, indicating a greater prevalence of neuropsychiatric symptoms.

Psychotic symptoms were present in 12% of patients, which is significant given that these symptoms can complicate the clinical picture and require specific interventions. Although rare, these symptoms correlate with more severe ataxia and cognitive impairment.

The neuropsychiatric symptoms were also found to correlate with activities of daily living and ataxia severity. Specifically, emotional dysregulation and decreased motivation were associated with impairment in daily activities, highlighting the functional impact of these symptoms on patients' lives.

There was only slight agreement between informant-rated and patient-rated scores on the MBI-C. Informants tended to emphasize symptoms related to irritability and agitation, while patients reported more on depression and anxiety. This discrepancy underscores the importance of collecting both perspectives to fully understand the patient's condition.

The authors point out that understanding the full scope of neuropsychiatric symptoms in FRDA is crucial for managed care. These results emphasize the need for a comprehensive approach to treatment that includes mental health support alongside physical interventions. Recognizing the significant burden of neuropsychiatric symptoms can lead to more tailored and effective care plans for individuals with FRDA.