Abstract
BackgroundSpinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA.MethodsWe conducted a cross-sectional study on school-age SMA patients in China. Patients aged 8–18 years with a genetic diagnosis of 5qSMA were invited to answer a questionnaire composed of sociodemographic and clinical questions, then to complete the Screen for Child Anxiety-Related Emotional Disorders and Depression Self-Rating Scale for depression and anxiety level evaluation. At the end of the questionnaire, further questions assessed the subjective anxiety and subjective depression of patients’ caregivers and their expectations for their child’s future.ResultsComplete data were available for 155 patients. The sample included 45.8% boys and 54.2% girls; 65.2% were type II, 27.1% were type III, and the remainder were type I SMA. Rates of anxiety and depression in these school-age SMA patients were 40.0% and 25.2%, respectively. Gender, age, and disease type were not associated with anxiety or depression, but respiratory system dysfunction, digestive system dysfunction, skeletal deformity, rehabilitation exercise, academic delay, specialized support from school, household income level, caregivers’ subjective anxiety, and caregivers’ expectations were significantly related to both anxiety and depression.ConclusionsThere was a high prevalence of anxiety and depression in school-age SMA patients in China. Professional psychological care maybe included in the standard of care. These results also call for possible targets for intervention such as reducing complications, improving drug accessibility, retaining normal schooling, strengthening school support, and enhancing the ability of the caregivers of SMA patients to assist in the diagnosis and treatment of the disease, so improving the mental health of SMA patients.
Highlights
Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders
There were only 8 patients who were treated with Nusinursen, and 3 of them reached the diagnosis of anxiety or depression
Our results indicated that the prevalence rates of depression and anxiety in patients with SMA showed no significant difference with age, anxiety and depression occurred more frequently in adolescent patients aged 13–18 years
Summary
Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Spinal muscular atrophy (SMA) is a rare, autosomalrecessive neuromuscular disorder caused by genetic mutation in the 5q13 survival of motor neuron (SMN) 1 gene [1]. This mutation results in reduced levels of the SMN protein, causing muscle weakness and atrophy [2]. Yao et al Orphanet J Rare Dis (2021) 16:385 multisystem physical dysfunction such as respiratory, digestive, cardiovascular, and motor disorders, which seriously reduce the patients’ quality of life [3, 4]. The World Health Organization (WHO) identified depression and depressive disorders as “priority mental health disorders of adolescence” due to their high rates of prevalence and recurrence, and the significant complications and impairment that can occur [12]
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