More mental health symptoms seen in FA patients vs. controls in study
Higher rates of depression, anxiety found for Friedreich’s ataxia patients
People with Friedreich’s ataxia (FA) were found in a new study to experience more mental health symptoms — particularly decreased motivation and greater anxiety and depression — than individuals without the rare disease, who served as controls.
The results of this survey study, conducted in the Czech Republic, also showed that FA patients with less motivation and more anxiety and depression, as assessed by caregivers, had greater difficulties with activities of daily living, or basic tasks people do to care for themselves and live independently.
Reports by the patients themselves showed that psychiatric complications were associated with lower health-related quality of life, according to the researchers.
“[Neuropsychiatric symptoms], particularly emotion dysregulation and decreased motivation, are common and clinically relevant in [FA] and should receive more attention due to their potential impact on quality of life,” the researchers wrote, also noting “the possibility of therapeutic intervention.”
The study, “Exploring neuropsychiatric symptoms in Friedreich ataxia,” was published late last year in the journal Scientific Reports.
Using a checklist to assess mental health symptoms in FA
A rare progressive disease, FA — described by the researchers as one of the most common hereditary ataxias worldwide — is caused by mutations in the FXN gene, and affects nerves and muscles.
FA is marked by its hallmark symptom ataxia, or a lack of coordination and muscle control during voluntary movements. But FA affects many other parts of the body, leading to a wide range of other symptoms.
Very little is known, however, about the mental health of FA patients — and according to the scientists, the results of research to date have not been consistent.
Now, a team led by researchers in Czechia aimed to determine the frequency and severity of mental health symptoms in people with FA. For that purpose, parents, partners, formal caregivers, siblings, or friends of 33 FA patients reported on the mental health symptoms of study participants, using the Czech version of the Mild Behavioral Impairment Checklist (MBI-C). This questionnaire was developed to assess neuropsychiatric impairment in the early stages of neurodegenerative diseases, and evaluates symptoms over a six-month time frame. A total of 49 healthy volunteers also were involved in the study, and served as controls.
Additionally, 23 of the FA patients rated their own mental health symptoms on a similar patient-rated scale.
Among the patients, four had late-onset FA with symptoms emerging after their 25th birthday. In total, 11 patients were being medicated for depression and one had a history of bipolar disorder, with extreme mood swings.
The researchers noted that treatment with antidepressants could influence the mental health symptoms experienced by the FA patients, and also lead to an underreporting of depressive symptoms in the individuals with the disease.
One-third of patients in small study showed high-severity symptoms
As reported by caregivers, the FA patients had higher total MBI-C scores, as well as significantly higher scores relative to decreased motivation and emotional dysregulation — namely, anxiety and depression. No other differences were statistically significant between the patients and the controls.
According to the caregivers, 12 patients, or slightly fewer than one-third, exhibited high-severity mental health symptoms. This compared with four participants in the healthy volunteer group, a statistically significant difference. In the patients’ self-rating, 10 reported high-severity symptoms.
Overall, 12% of patients experienced psychotic symptoms, which may include hallucinations, such as hearing voices that are not there, and delusions, or false beliefs that someone holds onto very strongly. This subset of FA patients was among the most severely affected regarding their ataxia and activities of daily living.
“Identifying these individuals is important in clinical care in order to address the psychotic symptoms, which may constitute an additional burden for patients and caregivers,” the researchers wrote.
It is difficult to distinguish whether these [neuropsychiatric symptoms] are due to the neurodegenerative process or to the burden of living with a progressive, devastating disease, but in any case [such symptoms] need to be considered in clinical care.
The study’s results further showed that decreased motivation and more severe anxiety and depression were associated with a decreased ability to perform activities of daily living. Assessments from patients further showed that having less motivation and worse anxiety and depression correlated with lower health-related quality of life.
Overall, mental health symptoms were unrelated to ataxia severity or general cognitive decline, except for reports of psychotic symptoms by caregivers.
“It is difficult to distinguish whether these [neuropsychiatric symptoms] are due to the neurodegenerative process or to the burden of living with a progressive, devastating disease, but in any case they need to be considered in clinical care,” the researchers concluded.
Further studies conducted in multiple centers and countries, with greater numbers of FA patients, are needed to validate this study’s results, the team noted.
