Poor sleep tied to depression, more common with SMA type 2 than 3
Poor sleep is associated with more severe depressive symptoms and respiratory issues in adults with spinal muscular atrophy (SMA), a survey study of 50 patients in Italy reports.
Adequate sleep was more likely to be lacking and symptoms of depression were more severe in people with SMA type 2 than in those with SMA type 3. Better sleep quality also was reported by more patients treated with Spinraza (nusinersen) than those taking Evrysdi (risdiplam), although this finding’s “clinical relevance” is uncertain and “should be further investigated in larger, longitudinal studies,” the researchers wrote.
“Given the impact of sleep on both emotional well-being and respiratory health, clinicians should incorporate regular sleep assessments into routine evaluations of SMA patients,” they added.
The study, “Exploring sleep quality, depressive symptoms, and quality of life in adults with Spinal Muscular Atrophy,” was published in Neuromuscular Disorders.
Sleep quality among people with SMA ‘strikingly understudied’
SMA is chiefly caused by mutations in the SMN1 gene that result in little or no production of the survival motor neuron protein (SMN). This leads to progressive loss of motor neurons — the nerve cells that control voluntary movements — and disease symptoms like muscle weakness and wasting.
Poor sleep also can affect people with SMA, weighing on their mental health and quality of life. However, “sleep disturbances in patients with SMA are strikingly understudied, and most evidence comes from pediatric patients,” the researchers wrote.
Researchers conducted an online survey of 50 adults with types 2 and 3 SMA, who completed questionnaires to assess sleep quality, depressive symptoms, and quality of life. In general, type 2 disease is more severe than type 3, with onset typically between 6 and 18 months old, rather than in childhood. The group, overall, had a median age of 41, and most participants (66%) were women (66%).
In total, 29 patients had type 2 disease and 21 had type 3. About two-thirds of the patients were using a disease-modifying treatment: most, 50% (25 patients), were taking Evrysdi, and 18% (nine patients) were using Spinraza.
Lung and respiratory health was being followed regularly for most adults (66%), with 80% regularly performing overnight pulse oximetry, a test designed to monitor oxygen levels during sleep, the surveys found. Also, 36% reported morning headaches, 16% used noninvasive ventilation at night, and 12% reported shortness of breath when lying down.
Sleep quality was evaluated using the Pittsburgh Sleep Quality Index (PSQI) questionnaire, where total scores greater than five suggest poor quality. Results showed 60% of respondents reported poor sleep quality, and the total mean PSQI score was six, “substantially higher than the general population mean of 4.5–5, indicating significantly poorer sleep quality,” the researchers wrote.
Likewise, 72% had clinically significant depressive symptoms, assessed with the Patient Health Questionnaire-9 (PHQ-9).
Poorer sleep, depressive symptoms more evident with type 2 than type 3 SMA
SMA type 2 patients had significantly higher median PSQI scores (poorer sleep) than those with SMA type 3: 8.6 vs. 6.2. They also had significantly higher PHQ-9 scores (12.2 vs. 7), indicative of more severe depressive symptoms.
In contrast, no significant differences in global quality of life scores were seen between the two patient groups, assessed using the Short-Form Health Survey 36. However, adults with SMA type 2 had significantly lower scores in the domains of emotional well-being and general health.
“These findings underline the importance of comprehensive multidisciplinary care approaches that address not only the physical symptoms but also the psychological and emotional needs of individuals with SMA,” the researchers wrote.
Sleep quality was reported as poorer in adults treated with Evrysdi than those on Spinraza, but no differences between these therapies were found regarding depressive symptoms and quality of life. This suggests that Spinraza “may have a more favorable effect on sleep quality than [Evrysdi],” the researchers wrote.
“Interestingly, when comparing patients treated with [Evrysdi] versus [Spinraza], we observed a significant difference in sleep quality, with patients on [Spinraza], reporting better sleep. This finding aligns with the hypothesis that treatment regimens may have differential effects on sleep regulation, possibly due to distinct mechanisms of action or side effect profiles,” the researchers wrote, noting that more research is needed “to establish whether [better sleep quality] translates into meaningful improvements in patients’ overall health and well-being.”
Additional analysis revealed that the PSQI score significantly correlated with PHQ-9, indicating that poor sleep quality is associated with more severe depressive symptoms. Patients with respiratory symptoms and those using noninvasive ventilation at night also reported poorer sleep quality.
“Future research should further explore the underlying mechanism driving these observed differences and identify target interventions to address the specific needs of different SMA [types],” the scientists concluded, noting their study’s relatively small size. They added that “integrating sleep assessments and targeted interventions into standard care practices can lead to better outcomes and more personalized care for adult patients with SMA.”
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