Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Department of Psychology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Orphanet J Rare Dis. 2021 Sep 9;16(1):385. doi: 10.1186/s13023-021-02008-8.
Spinal 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.
We 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.
Complete 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.
There 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.
脊髓性肌萎缩症（SMA）是一种罕见的神经遗传性疾病，涉及多种系统功能障碍，如呼吸、消化和运动障碍。焦虑、抑郁等心理障碍常伴有严重的慢性躯体疾病。本研究旨在探讨 SMA 学龄期患者焦虑和抑郁的发生率及其影响因素。
我们在中国进行了一项 SMA 学龄期患者的横断面研究。邀请 8-18 岁、有 5qSMA 基因诊断的 SMA 患者回答一份由社会人口统计学和临床问题组成的问卷，然后完成儿童焦虑相关情绪障碍筛查和抑郁自评量表，以评估抑郁和焦虑水平。在问卷结束时，进一步的问题评估了患者照顾者的主观焦虑和主观抑郁以及他们对孩子未来的期望。
共获得 155 例患者的完整数据。样本包括 45.8%的男孩和 54.2%的女孩；65.2%为 II 型，27.1%为 III 型，其余为 I 型 SMA。这些 SMA 学龄期患者的焦虑和抑郁发生率分别为 40.0%和 25.2%。性别、年龄和疾病类型与焦虑或抑郁无关，但呼吸系统功能障碍、消化系统功能障碍、骨骼畸形、康复运动、学业延迟、学校专业支持、家庭收入水平、照顾者主观焦虑和照顾者期望与焦虑和抑郁均显著相关。
中国 SMA 学龄期患者焦虑和抑郁发生率较高。专业的心理护理可能包含在标准治疗中。这些结果还呼吁针对减少并发症、改善药物可及性、保留正常学业、加强学校支持以及增强 SMA 患者照顾者协助诊断和治疗疾病的能力等可能的干预目标，从而改善 SMA 患者的心理健康。
