Suicidal thoughts and their relationship with sleep quality, depressive symptoms, and quality of life in adults with Spinal Muscular Atrophy

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Psychological disorders, including depression and suicidal ideation, frequently accompany severe chronic illnesses; however, in the context of SMA, evidence is scant. This study aimed to assess the presence of suicidal thoughts among SMA patients and to explore their associations with sleep quality, depressive symptoms, and overall quality of life. Methods We conducted a cross-sectional survey involving 50 adults with SMA in Italy. Participants aged 18–65 with a confirmed genetic diagnosis of 5qSMA were asked to complete a set of questionnaires comprising the Pittsburgh Sleep Quality Index (PSQI), Patient Health Questionnaire-9 (PHQ-9), Short Form Health Survey-36 (SF-36), and additional sociodemographic and clinical information. Results Complete data were obtained for 50 patients. The sample was stratified into two groups based on the presence or absence of suicidal thoughts, as indicated by the PHQ-9. Female gender was the most represented in the group with suicidal thoughts (70%) with a mean age of 40. Suicidal thoughts were significantly associated with PSQI (OR = 2.11, 95% CI 0.14–1.34, p = 0.002), PHQ-9 (OR = 1.12, 95% CI 0.12–0.36, p = 0.009) and SF-36 (OR = 0.93, 95% CI 0.01-0.0, p = 0.007). Conclusions In conclusion, our findings demonstrate a significant relationship between poor sleep quality, depressive symptoms, and suicidal ideation in adults with SMA. Specifically, individuals reporting poorer sleep quality were more likely to experience heightened depressive symptoms, which, in turn, were strongly associated with the presence of suicidal thoughts. These results highlight the importance of addressing both sleep disturbances and mental health issues in this population to mitigate the risk of suicidal thoughts and improve overall quality of life. SMA Suicidal thoughts Sleep quality Depression Quality of life Background Spinal muscular atrophy (SMA) is a rare, autosomal-recessive neuromuscular disorder caused by mutations in the survival of the motor neuron 1 (SMN1) gene located on chromosome 5q13 [ 1 ]. These mutations result in decreased levels of the SMN protein, leading to progressive muscle weakness and atrophy [ 2 ]. As the disease progresses, it frequently involves multisystemic physical dysfunction, including respiratory, digestive, cardiovascular, and motor impairments, severely impacting patients' quality of life [ 3 , 4 ]. The social aspects of life, including relationships and community engagement, are also significantly impacted by SMA. Specifically, social isolation and the inability to participate in community activities can lead to feelings of loneliness and frustration. A recent study emphasized the importance of social support and inclusive practices to enhance the quality of life of individuals with SMA [ 5 ]. Chronic illnesses, in general, are well-documented to contribute to the development and exacerbation of mental health disorders, such as depressive symptomatology. Several studies have shown that patients with chronic illnesses—including stroke, multiple sclerosis, inflammatory bowel disease, leukemia, cancer, and other chronic illnesses —frequently experience depressive symptomatology [ 6 – 8 ]. Depression not only affects individuals’ emotional well-being but also complicates the management of chronic illnesses. Research has demonstrated that depressive disorders can exacerbate physical symptoms and negatively impact prognosis through neuroendocrine and immune pathways [ 9 , 10 ]. In 2015, the Global Burden of Diseases, Injuries, and Risk Factors Study assessed the incidence, prevalence, and years lived with disability due to diseases and injuries on a global, regional, and national scale from 1990 to 2015 [ 11 ]. The literature highlighted that moderate to severe self-care limitations are linked to an increased risk of suicidal thoughts [ 12 ]. Faced with the multisystem dysfunction characteristic of SMA, the functional activities of patients are limited, and they often suffer from a variety of complications; therefore, the impact of SMA on mental health can be profoundly severe [ 13 ]. Mazzella and colleagues found that SMA patients reported their mental health, including anxiety and depression, to be significantly affected by the disease [ 14 ]. The presence of depression often leads to reduced social engagement, diminished motivation, and impaired cognitive function, all of which further deteriorate social functioning and quality of life, potentially leading to suicidal behaviors. Suicidal behaviors include not only suicide attempts and complete suicides but also suicidal thoughts, wishes, and preoccupations, collectively known as suicidal ideation [ 15 ]. Importantly, suicidal ideation is among the most critical risk factors for completed suicide. In general, suicidal ideation occurs more frequently in women than in men, despite men having higher suicide completion rates, however, this trend is unknowns in SMA populations. The association between sleep disturbances and an increased vulnerability to suicidal ideation and behaviors is well-documented in the literature. Sleep disturbances, including insomnia, nightmares, and poor sleep quality, have been identified as significant risk factors for both the onset and exacerbation of suicidal thoughts and behaviors. For example, according to a meta-analysis, adolescents experiencing sleep disturbances had significantly higher risks of suicidal thoughts, planning, and attempts compared to their peers without sleep disturbances [ 16 ]. Also, in community adults, short sleep duration seems to be linked to a higher likelihood of suicidal ideation and suicide attempts, even when accounting for the impact of comorbid mental disorders [ 17 ]. Respiratory muscle weakness, a hallmark of SMA, is a major contributor to sleep-related breathing disorders, such as sleep apnea and hypoventilation, which disrupt normal sleep patterns and lead to fragmented rest and excessive daytime sleepiness [ 18 ]. These disturbances not only impair sleep quality but also exacerbate daytime fatigue and overall health, impacting the quality of life and emotional well-being of individuals with SMA. Research on other motor neuron diseases in adults has demonstrated that sleep disorders are prevalent, with patients frequently reporting nighttime symptoms such as insomnia, fragmented sleep, nightmares, snoring, choking, and restless legs [ 19 ]. Thus, they may be a particularly vulnerable population. However, there is currently a lack of empirical data specifically examining the prevalence or severity of suicidal ideation within this population and its association with sleep quality. Notably, given that suicidal ideation is strongly associated with depression, it is crucial to assess the relationship between sleep quality and suicidal ideation while controlling for depression levels [ 20 ]. This approach ensures that the observed associations between sleep disturbances and suicidal thoughts are not simply a reflection of underlying depressive symptoms, allowing for a more accurate understanding of the independent contribution of sleep quality to suicidal risk. Significance of the present study Understanding the prevalence and determinants of suicidal ideation in this population is essential for several reasons. Firstly, it identifies individuals at heightened risk, facilitating early intervention and targeted support. Secondly, recognizing contributing factors, such as impaired functional status, chronic pain, sleep disturbances, and depression, can help in designing comprehensive care strategies. Addressing these factors improves patient well-being and enhances overall treatment outcomes. Aims The purpose of the current study was to assess and explore the presence of suicidal thoughts and assess their relationship with sleep quality, depressive symptoms, and quality of life in adults living with SMA. Based on the evidence in other types of chronic illnesses and conditions, we hypothesize that individuals with SMA may be developing suicidal ideation in relation to a poorer quality of life conditions, depressive symptoms, and alteration of sleep quality. Methods Study design and participant We conducted a cross-sectional study design using an anonymous online self-report survey. Individuals diagnosed with SMA were recruited as study participants, facilitated by the Association of Italian SMA patients. Before full participation, potential respondents were asked to complete a pre-screening questionnaire that gathered key demographic and clinical information. This allowed us to confirm eligibility before proceeding to the main survey. Although the survey was anonymous, recruitment was not entirely open to the public. To keep control over who participated, the invitations to participate in the study were distributed to potential participants through controlled and secure channels, such as email lists or social media groups run by trusted organizations. Only those who received these direct invitations could access the survey. Participants were assured of the anonymity of their responses. By maintaining confidentiality and not linking responses to individual identities, we aimed to reduce social desirability bias and encourage more honest and accurate reporting. Participants received clear instructions emphasizing the importance of honest and accurate responses. We explained that their truthful input was crucial for the reliability of the study results and a better understanding of their experiences and needs. This multi-layered approach to recruitment ensured that it reached and included the correct population while maintaining participant anonymity within the survey. Human Ethics and Consent to Participate Participants had to meet the following inclusion criteria: i) a confirmed clinical diagnosis of SMA type 2 or 3; ii) age between 18 and 65 years iii) being able to read and sign an informed consent form. Exclusion criteria comprised: i) presence of severe psychiatric disorder (e.g., psychotic or bipolar disorder). All the participants signed an informed consent to participate in the study. The study specifically included only patients diagnosed with SMA type 2 and type 3. This focus was intentional due to the distinct clinical characteristics and progression patterns associated with these SMA types. SMA type 2 and type 3 were selected to explore how different severities and trajectories of the disease impact outcomes such as sleep quality and depressive symptoms. The choice to exclude other types, such as SMA type 1 and type 4, was based on the differences in their clinical presentations and management needs. SMA type 1 is characterized by severe, early-onset symptoms that significantly impact survival into adulthood. In contrast, SMA type 4 presents with milder, late-onset symptoms and does not fully capture most patients' challenges with SMA type 2 and type 3. By focusing on SMA types 2 and 3, the study addresses a critical gap in understanding patients’ experiences more likely to live into adulthood and face long-term management issues. After obtaining written informed consent, eligible participants were consecutively enrolled in the study and completed all survey measures using Survey Monkey. This research was designed according to the STROBE statement and conducted following the Declaration of Helsinki. An independent University of Modena and Reggio Emilia, Italy's ethics committee, approved this study. Data collection The survey gathered sociodemographic characteristics of patients, including factors such as gender, age, educational attainment, and employment status. Patients’ medical information was also collected, including the type of SMA, treatment received (supportive care only, Nusinersen or Risdiplam), and any comorbidities. Self-reported sleep quality The Pittsburgh Sleep Quality Index (PSQI) is a questionnaire consisting of 19 items designed to evaluate an individual's sleep quality over the past month. It evaluates seven components of sleep, including quality, latency, duration, efficiency, sleep disturbances, use of sleep medication, and daytime dysfunction. Scores on the questionnaire range from 0 to 21, with higher scores indicating poorer sleep quality. A total score exceeding 5 suggests poor sleep quality. This study utilized the validated Italian version of the PSQI [ 21 ]. It has shown high internal consistency (Cronbach’s alpha > 0.70) and test-retest reliability across diverse populations. Its construct validity is well-documented, as the PSQI can effectively distinguish between individuals with and without sleep disorders, making it reliable for both clinical and research purposes. Depressive symptomatology The Patient Health Questionnaire (PHQ-9) was used to screen the level of depressive symptomatology. The PHQ-9 consists of 9 items and is widely used in screening individuals on their level of depression [ 22 ]. It requires patients to assess, using a four-point scale from "not at all" to "nearly every day," the frequency of specific depression symptoms experienced over the preceding two weeks. Scores on the PHQ-9 range from 0 to 27. Scores between 5 and 9 indicate subthreshold depression, while a score of 10 serves as the optimal cutoff for identifying clinically significant depression, delineating three levels of severity based on the score [ 23 ]. The PHQ-9 Cronbach’s alpha is approximately of 0.86–0.89, indicating excellent internal reliability. It has robust criterion validity, correlating strongly with clinical interviews for diagnosing major depressive disorder. The tool's sensitivity and specificity are high, making it a reliable measure for both screening and monitoring depression severity over time. Suicidal thoughts To evaluate the presence of suicidal thoughts in the sample, we considered a specific item of PHQ-9: “Thoughts that you would be better off dead or of hurting yourself.” This study treats suicidal thoughts as a continuous variable in regression analysis. Health-related quality of life The Short Form Health Survey 36 (SF-36) was used to evaluate the health-related quality of life. The SF-36 assesses eight dimensions of health: emotional well-being, general health, energy and vitality, social functioning, physical functioning, role limitations due to emotional health problems, bodily pain, and mental health. Each dimension is converted to a scale of 0-100, assuming equal importance for each question. Lower scores indicate poorer health-related quality of life [ 24 ]. With internal consistency coefficients generally above 0.80, the SF-36 demonstrates excellent reliability. Its validity is supported through correlations with other quality-of-life measures and its sensitivity to health status changes, making it useful for tracking patient outcomes and assessing overall health perceptions. Statistical analysis Descriptive statistics were used to summarize the demographic characteristics of the study participants, including mean values and standard deviations for continuous variables and frequencies and percentages for categorical variables. Due to the non-parametric nature of the data, the Mann-Whitney U test was employed to compare sociodemographic and clinical characteristics, sleep quality, quality of life, and depressive symptoms between the two groups. This test is suitable for comparing continuous variables between two independent groups when the assumptions of normality and homogeneity of variance are unmet. Furthermore, to determine the association of suicidal thoughts with sleep quality, depressive symptoms, and quality of life, we performed logistic regression models to test whether suicidal thought outcomes exhibited a positive trend across sleep quality, depressive symptoms, and quality of life. The significance level was set at p < 0.05 for all statistical tests. Statistical analyses were performed using JASP version 12.2. Results All participants (n = 50) were included in the analysis, and no data were missing. Thirty-three (66%) of the 50 subjects reported suicidal thoughts at the specific item of PHQ-9. Of those, the majority were female (70%), with a mean age of 40 years. Type 2 was the most prevalent phenotype in our sample with suicidal thoughts, with no differences between the groups. Individuals with suicidal thoughts were more unemployed (15% vs. 50%). Table 1 presents the participants' demographic and clinical characteristics. Table 1 Differences between the SMA group with suicidal thoughts vs. the group without suicidal thoughts. Variable Suicidal thoughs (n = 33) No suicidal thoughts (n = 17) p value Female sex , n (%) 23 (70) 10 (59) 0.577 Age , M (SD) 43 (13.02) 38 (10.77) 0.298 Type of SMA , n (%) SMA 2 20 (61) 10 (59) 0.867 SMA 3 13 (39) 7 (41) Level of education Primary school 0 1 (6%) 0.137 Secondary school 19 (58) 9 (53) ≥ High school 14 (42) 7 (41) Employed , n (%) 5 (15) 8 (50) 0.355 Comorbidity Cardiovascular disease 29 (88) 3 (18) 0.517 Endocrinal disease 4 (12) 2 (12) 0.960 Gastrointestinal disease 2 (6) 0 0.587 Respiratory disease 14 (42) 2 (12) 0.760 Drug theraphy for SMA None 12 (37) 2 (12) 0.380 Risdiplam 16 (48) 9 (53) Nusinersen 5 (15) 6 (35) Table 2 shows the association between suicidal thoughts and sleep quality, depressive symptoms, and quality of life. Compared to the non-suicidal thoughts group, the group with suicidal thoughts was more likely to report a poorer sleep quality (OR 2.114; 95% CI: 0.149–1.348, p = 0.002), depressive symptoms (OR 1.126; 95% CI: 0.128–0.366, p = 0.006) and a worse quality of life (OR 0.933; 95% CI: 0.015–0.001, p = 0.007). Table 2 Univariate logistic regression models, association between tool questionnaires and suicidal thoughts. PSQI = Pittsburgh Questionnaire Index; PHQ-9 = Patient Health Questionnaire-9; SF-36 = Short Form Health Survey-36. Univariate models OR 95% CI p value PSQI 2.114 0.149–1.348 0.002 PHQ-9 1.126 0.128–0.366 0.009 SF-36 0.933 0.015–0.001 0.007 Discussion To the best of our knowledge, this is the first study that explores the presence of suicidal thoughts in individuals with a diagnosis of SMA. From the analysis of our research, suicidal thoughts were observed in 66% of the sample. The high prevalence of suicidal thoughts observed in this study aligns with the broader literature on chronic illnesses, where mental health disorders, particularly depression, are often present alongside physical health challenges [ 25 , 26 ]. In the context of SMA, which involves progressive motor dysfunction, respiratory difficulties, and other multisystem impairments, the added burden of psychological distress is unsurprising. Research has consistently demonstrated that chronic physical illnesses can exacerbate depressive symptoms, which in turn contribute to the development of suicidal thoughts [ 9 , 10 ]. The role of gender in the prevalence of suicidal thoughts is also noteworthy; female participants in this study were more likely to report suicidal ideation, a finding consistent with existing research [ 27 – 29 ]. Studies have shown that psychological distress, including depression and anxiety, is often more prevalent in women, potentially due to biological, hormonal, and psychosocial factors [ 30 – 32 ]. These gender differences highlight the need for gender-sensitive interventions in managing mental health in SMA patients. Sleep disturbances were also strongly associated with suicidal thoughts in our sample. Poor sleep quality has been widely recognized as a risk factor for both depression and suicidal behaviors in various populations [ 15 ]. In motor neuron diseases, including SMA, patients frequently experience sleep-related issues such as insomnia and fragmented sleep, which may exacerbate their psychological distress. The results of this study further reinforce the importance of addressing sleep disturbances in the comprehensive care of SMA patients to mitigate the risk of suicidal thoughts. Depressive symptoms emerged as another significant predictor of suicidal thoughts. This finding is consistent with the literature that underscores depression as a critical risk factor for suicidal behaviors [ 33 ]. The neuroendocrine and immune dysregulation observed in depression likely exacerbates the physical symptoms of SMA, thereby creating a vicious cycle of worsening physical and mental health [ 8 ]. Addressing depression in this population is essential not only to improve psychological well-being but also to enhance overall quality of life. The association between suicidal thoughts and quality of life further underscores the profound impact of SMA on patients' daily functioning. Poor quality of life, characterized by limitations in physical, emotional, and social domains, can severely diminish an individual's sense of purpose and self-worth, thus heightening the risk of suicidal ideation [ 12 ]. Comprehensive interventions targeting physical impairments and psychosocial factors are crucial in reducing this risk. Notably, unemployment was significantly more prevalent among individuals with suicidal thoughts compared to those without. This supports a well-established association between unemployment and heightened suicide risk, as economic instability and loss of purpose are known contributors to mental health decline and suicidal ideation [ 34 ]. Addressing unemployment and promoting economic support systems may thus be critical in mitigating suicide risk in this population. Finally, the evidence that emerged from our study is in line with other investigations in populations with neuromuscular diseases such as amyotrophic lateral sclerosis, where the increased risk of suicide is related to factors like progressive loss of mobility, severe physical impairment, and perceived quality of life decline. Anxiety, depression, and feelings of hopelessness also appear to elevate suicidal ideation in this population [ 35 , 36 ]. Although this study provides valuable insights, several limitations must be acknowledged. The cross-sectional design limits our ability to draw causal conclusions about the relationship between suicidal thoughts, sleep quality, depressive symptoms, and quality of life. Additionally, reliance on self-reported measures may introduce bias, as clinical diagnoses were not independently verified. Furthermore, a limitation of this study is that it included only two types of SMA, which restricts the generalizability of the findings. Future research would benefit from longitudinal designs and the inclusion of clinical assessments to validate self-reported data. Conclusion In conclusion, suicide prevention in patients with SMA requires a comprehensive, multidisciplinary approach due to the physical, emotional, and psychological challenges posed by the condition. Early screening for mental health disorders should be integrated into routine care alongside physical health monitoring. Providing psychological support, such as cognitive-behavioral therapy (CBT), can help patients develop coping strategies and reduce feelings of hopelessness. Social support networks, including family counseling and peer support groups, could be important resources in reducing isolation and improving quality of life. Additionally, ensuring access to adaptive technologies and rehabilitation services can foster independence and mitigate frustration, further protecting mental well-being. Finally, collaborative efforts between healthcare providers, mental health specialists, and caregivers are essential to implementing individualized care plans focused on both physical and emotional health, ultimately reducing suicide risk in this population. Declarations Acknowledgments We thank the Italian Association of SMA patients ASAMSI (Associazione per lo studio dell’atrofia muscolare spinale infantile). Clinical trial number Not applicable. Funding declaration Not applicable. Consent to Publish declaration All the authors approved the final version of the manuscript. Human Ethics and Consent to Participate declarations All the participants signed an informed consent to participate in the study. Data availability The data supporting this study’s findings are available from the corresponding author upon request. Author Contribution V.B.: drafting of the manuscript for content; major role in the acquisition of data; study concept or design; analysis and interpretation of data.G.V.: drafting of the manuscript for content; major role in the acquisition of data; study concept or design.R.L.: major role in the acquisition of data, drafting of the manuscript for content.G.R.: drafting of the manuscript for content.R.D.S.: major role in the acquisition of data.M.S: drafting of the manuscript for content.S.R.: drafting of the manuscript for content.D.D.R.: study concept or design, analysis, and interpretation of data.G.P.: major role in the acquisition of data; study concept or design. References D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71. 10.1186/1750-1172-6-71 . Ahmad S, Bhatia K, Kannan A, Gangwani L. Molecular mechanisms of neurodegeneration in spinal muscular atrophy. J Exp Neurosci. 2016;10:39–49. 10.4137/JEN.S33122 . 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These mutations result in decreased levels of the SMN protein, leading to progressive muscle weakness and atrophy [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. As the disease progresses, it frequently involves multisystemic physical dysfunction, including respiratory, digestive, cardiovascular, and motor impairments, severely impacting patients' quality of life [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e]. The social aspects of life, including relationships and community engagement, are also significantly impacted by SMA. Specifically, social isolation and the inability to participate in community activities can lead to feelings of loneliness and frustration. A recent study emphasized the importance of social support and inclusive practices to enhance the quality of life of individuals with SMA [\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eChronic illnesses, in general, are well-documented to contribute to the development and exacerbation of mental health disorders, such as depressive symptomatology. Several studies have shown that patients with chronic illnesses\u0026mdash;including stroke, multiple sclerosis, inflammatory bowel disease, leukemia, cancer, and other chronic illnesses \u0026mdash;frequently experience depressive symptomatology [\u003cspan additionalcitationids=\"CR7\" citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eDepression not only affects individuals\u0026rsquo; emotional well-being but also complicates the management of chronic illnesses. Research has demonstrated that depressive disorders can exacerbate physical symptoms and negatively impact prognosis through neuroendocrine and immune pathways [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eIn 2015, the Global Burden of Diseases, Injuries, and Risk Factors Study assessed the incidence, prevalence, and years lived with disability due to diseases and injuries on a global, regional, and national scale from 1990 to 2015 [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. The literature highlighted that moderate to severe self-care limitations are linked to an increased risk of suicidal thoughts [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. Faced with the multisystem dysfunction characteristic of SMA, the functional activities of patients are limited, and they often suffer from a variety of complications; therefore, the impact of SMA on mental health can be profoundly severe [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. Mazzella and colleagues found that SMA patients reported their mental health, including anxiety and depression, to be significantly affected by the disease [\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]. The presence of depression often leads to reduced social engagement, diminished motivation, and impaired cognitive function, all of which further deteriorate social functioning and quality of life, potentially leading to suicidal behaviors. Suicidal behaviors include not only suicide attempts and complete suicides but also suicidal thoughts, wishes, and preoccupations, collectively known as suicidal ideation [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. Importantly, suicidal ideation is among the most critical risk factors for completed suicide. In general, suicidal ideation occurs more frequently in women than in men, despite men having higher suicide completion rates, however, this trend is unknowns in SMA populations.\u003c/p\u003e \u003cp\u003eThe association between sleep disturbances and an increased vulnerability to suicidal ideation and behaviors is well-documented in the literature. Sleep disturbances, including insomnia, nightmares, and poor sleep quality, have been identified as significant risk factors for both the onset and exacerbation of suicidal thoughts and behaviors. For example, according to a meta-analysis, adolescents experiencing sleep disturbances had significantly higher risks of suicidal thoughts, planning, and attempts compared to their peers without sleep disturbances [\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e]. Also, in community adults, short sleep duration seems to be linked to a higher likelihood of suicidal ideation and suicide attempts, even when accounting for the impact of comorbid mental disorders [\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]. Respiratory muscle weakness, a hallmark of SMA, is a major contributor to sleep-related breathing disorders, such as sleep apnea and hypoventilation, which disrupt normal sleep patterns and lead to fragmented rest and excessive daytime sleepiness [\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]. These disturbances not only impair sleep quality but also exacerbate daytime fatigue and overall health, impacting the quality of life and emotional well-being of individuals with SMA. Research on other motor neuron diseases in adults has demonstrated that sleep disorders are prevalent, with patients frequently reporting nighttime symptoms such as insomnia, fragmented sleep, nightmares, snoring, choking, and restless legs [\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]. Thus, they may be a particularly vulnerable population. However, there is currently a lack of empirical data specifically examining the prevalence or severity of suicidal ideation within this population and its association with sleep quality. Notably, given that suicidal ideation is strongly associated with depression, it is crucial to assess the relationship between sleep quality and suicidal ideation while controlling for depression levels [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]. This approach ensures that the observed associations between sleep disturbances and suicidal thoughts are not simply a reflection of underlying depressive symptoms, allowing for a more accurate understanding of the independent contribution of sleep quality to suicidal risk.\u003c/p\u003e\n\u003ch3\u003eSignificance of the present study\u003c/h3\u003e\n\u003cp\u003eUnderstanding the prevalence and determinants of suicidal ideation in this population is essential for several reasons. Firstly, it identifies individuals at heightened risk, facilitating early intervention and targeted support. Secondly, recognizing contributing factors, such as impaired functional status, chronic pain, sleep disturbances, and depression, can help in designing comprehensive care strategies. Addressing these factors improves patient well-being and enhances overall treatment outcomes.\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eAims\u003c/h2\u003e \u003cp\u003eThe purpose of the current study was to assess and explore the presence of suicidal thoughts and assess their relationship with sleep quality, depressive symptoms, and quality of life in adults living with SMA. Based on the evidence in other types of chronic illnesses and conditions, we hypothesize that individuals with SMA may be developing suicidal ideation in relation to a poorer quality of life conditions, depressive symptoms, and alteration of sleep quality.\u003c/p\u003e \u003c/div\u003e"},{"header":"Methods","content":"\u003cdiv id=\"Sec5\" class=\"Section2\"\u003e \u003ch2\u003eStudy design and participant\u003c/h2\u003e \u003cp\u003eWe conducted a cross-sectional study design using an anonymous online self-report survey. Individuals diagnosed with SMA were recruited as study participants, facilitated by the Association of Italian SMA patients. Before full participation, potential respondents were asked to complete a pre-screening questionnaire that gathered key demographic and clinical information. This allowed us to confirm eligibility before proceeding to the main survey. Although the survey was anonymous, recruitment was not entirely open to the public. To keep control over who participated, the invitations to participate in the study were distributed to potential participants through controlled and secure channels, such as email lists or social media groups run by trusted organizations. Only those who received these direct invitations could access the survey. Participants were assured of the anonymity of their responses. By maintaining confidentiality and not linking responses to individual identities, we aimed to reduce social desirability bias and encourage more honest and accurate reporting. Participants received clear instructions emphasizing the importance of honest and accurate responses. We explained that their truthful input was crucial for the reliability of the study results and a better understanding of their experiences and needs. This multi-layered approach to recruitment ensured that it reached and included the correct population while maintaining participant anonymity within the survey.\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003eHuman Ethics and Consent to Participate\u003c/h3\u003e\n\u003cp\u003e Participants had to meet the following inclusion criteria: i) a confirmed clinical diagnosis of SMA type 2 or 3; ii) age between 18 and 65 years iii) being able to read and sign an informed consent form. Exclusion criteria comprised: i) presence of severe psychiatric disorder (e.g., psychotic or bipolar disorder). All the participants signed an informed consent to participate in the study.\u003c/p\u003e \u003cp\u003eThe study specifically included only patients diagnosed with SMA type 2 and type 3. This focus was intentional due to the distinct clinical characteristics and progression patterns associated with these SMA types. SMA type 2 and type 3 were selected to explore how different severities and trajectories of the disease impact outcomes such as sleep quality and depressive symptoms. The choice to exclude other types, such as SMA type 1 and type 4, was based on the differences in their clinical presentations and management needs. SMA type 1 is characterized by severe, early-onset symptoms that significantly impact survival into adulthood. In contrast, SMA type 4 presents with milder, late-onset symptoms and does not fully capture most patients' challenges with SMA type 2 and type 3. By focusing on SMA types 2 and 3, the study addresses a critical gap in understanding patients\u0026rsquo; experiences more likely to live into adulthood and face long-term management issues.\u003c/p\u003e \u003cp\u003eAfter obtaining written informed consent, eligible participants were consecutively enrolled in the study and completed all survey measures using Survey Monkey. This research was designed according to the STROBE statement and conducted following the Declaration of Helsinki. An independent University of Modena and Reggio Emilia, Italy's ethics committee, approved this study.\u003c/p\u003e\n\u003ch3\u003eData collection\u003c/h3\u003e\n\u003cp\u003eThe survey gathered sociodemographic characteristics of patients, including factors such as gender, age, educational attainment, and employment status. Patients\u0026rsquo; medical information was also collected, including the type of SMA, treatment received (supportive care only, Nusinersen or Risdiplam), and any comorbidities.\u003c/p\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eSelf-reported sleep quality\u003c/h2\u003e \u003cp\u003eThe Pittsburgh Sleep Quality Index (PSQI) is a questionnaire consisting of 19 items designed to evaluate an individual's sleep quality over the past month. It evaluates seven components of sleep, including quality, latency, duration, efficiency, sleep disturbances, use of sleep medication, and daytime dysfunction. Scores on the questionnaire range from 0 to 21, with higher scores indicating poorer sleep quality. A total score exceeding 5 suggests poor sleep quality. This study utilized the validated Italian version of the PSQI [\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]. It has shown high internal consistency (Cronbach\u0026rsquo;s alpha\u0026thinsp;\u0026gt;\u0026thinsp;0.70) and test-retest reliability across diverse populations. Its construct validity is well-documented, as the PSQI can effectively distinguish between individuals with and without sleep disorders, making it reliable for both clinical and research purposes.\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003eDepressive symptomatology\u003c/h3\u003e\n\u003cp\u003eThe Patient Health Questionnaire (PHQ-9) was used to screen the level of depressive symptomatology. The PHQ-9 consists of 9 items and is widely used in screening individuals on their level of depression [\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]. It requires patients to assess, using a four-point scale from \"not at all\" to \"nearly every day,\" the frequency of specific depression symptoms experienced over the preceding two weeks. Scores on the PHQ-9 range from 0 to 27. Scores between 5 and 9 indicate subthreshold depression, while a score of 10 serves as the optimal cutoff for identifying clinically significant depression, delineating three levels of severity based on the score [\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]. The PHQ-9 Cronbach\u0026rsquo;s alpha is approximately of 0.86\u0026ndash;0.89, indicating excellent internal reliability. It has robust criterion validity, correlating strongly with clinical interviews for diagnosing major depressive disorder. The tool's sensitivity and specificity are high, making it a reliable measure for both screening and monitoring depression severity over time.\u003c/p\u003e\n\u003ch3\u003eSuicidal thoughts\u003c/h3\u003e\n\u003cp\u003eTo evaluate the presence of suicidal thoughts in the sample, we considered a specific item of PHQ-9: \u003cem\u003e\u0026ldquo;Thoughts that you would be better off dead or of hurting yourself.\u0026rdquo;\u003c/em\u003e This study treats suicidal thoughts as a continuous variable in regression analysis.\u003c/p\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003eHealth-related quality of life\u003c/h2\u003e \u003cp\u003eThe Short Form Health Survey 36 (SF-36) was used to evaluate the health-related quality of life. The SF-36 assesses eight dimensions of health: emotional well-being, general health, energy and vitality, social functioning, physical functioning, role limitations due to emotional health problems, bodily pain, and mental health. Each dimension is converted to a scale of 0-100, assuming equal importance for each question. Lower scores indicate poorer health-related quality of life [\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e]. With internal consistency coefficients generally above 0.80, the SF-36 demonstrates excellent reliability. Its validity is supported through correlations with other quality-of-life measures and its sensitivity to health status changes, making it useful for tracking patient outcomes and assessing overall health perceptions.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec12\" class=\"Section2\"\u003e \u003ch2\u003eStatistical analysis\u003c/h2\u003e \u003cp\u003eDescriptive statistics were used to summarize the demographic characteristics of the study participants, including mean values and standard deviations for continuous variables and frequencies and percentages for categorical variables.\u003c/p\u003e \u003cp\u003eDue to the non-parametric nature of the data, the Mann-Whitney U test was employed to compare sociodemographic and clinical characteristics, sleep quality, quality of life, and depressive symptoms between the two groups. This test is suitable for comparing continuous variables between two independent groups when the assumptions of normality and homogeneity of variance are unmet.\u003c/p\u003e \u003cp\u003eFurthermore, to determine the association of suicidal thoughts with sleep quality, depressive symptoms, and quality of life, we performed logistic regression models to test whether suicidal thought outcomes exhibited a positive trend across sleep quality, depressive symptoms, and quality of life.\u003c/p\u003e \u003cp\u003eThe significance level was set at p\u0026thinsp;\u0026lt;\u0026thinsp;0.05 for all statistical tests. Statistical analyses were performed using JASP version 12.2.\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cp\u003eAll participants (n\u0026thinsp;=\u0026thinsp;50) were included in the analysis, and no data were missing. Thirty-three (66%) of the 50 subjects reported suicidal thoughts at the specific item of PHQ-9. Of those, the majority were female (70%), with a mean age of 40 years. Type 2 was the most prevalent phenotype in our sample with suicidal thoughts, with no differences between the groups. Individuals with suicidal thoughts were more unemployed (15% vs. 50%). Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e presents the participants' demographic and clinical characteristics.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eDifferences between the SMA group with suicidal thoughts vs. the group without suicidal thoughts.\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eVariable\u003c/em\u003e\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eSuicidal thoughs\u003c/p\u003e \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;33)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eNo suicidal thoughts\u003c/p\u003e \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;17)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003e\u003cem\u003ep value\u003c/em\u003e\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eFemale sex\u003c/b\u003e, n (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e23 (70)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e10 (59)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.577\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eAge\u003c/b\u003e, M (SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e43 (13.02)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e38 (10.77)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.298\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eType of SMA\u003c/b\u003e, n (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eSMA 2\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e20 (61)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e10 (59)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.867\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eSMA 3\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e13 (39)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e7 (41)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eLevel of education\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003ePrimary school\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1 (6%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"2\" rowspan=\"3\"\u003e \u003cp\u003e0.137\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eSecondary school\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e19 (58)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9 (53)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003e\u0026ge; High school\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e14 (42)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e7 (41)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eEmployed\u003c/b\u003e, n (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5 (15)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e8 (50)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.355\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eComorbidity\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eCardiovascular disease\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e29 (88)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e3 (18)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.517\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eEndocrinal disease\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4 (12)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (12)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.960\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eGastrointestinal disease\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e2 (6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.587\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eRespiratory disease\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e14 (42)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (12)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.760\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eDrug theraphy for SMA\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eNone\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e12 (37)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (12)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"2\" rowspan=\"3\"\u003e \u003cp\u003e0.380\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eRisdiplam\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e16 (48)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9 (53)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eNusinersen\u003c/em\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5 (15)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6 (35)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eTable\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e shows the association between suicidal thoughts and sleep quality, depressive symptoms, and quality of life. Compared to the non-suicidal thoughts group, the group with suicidal thoughts was more likely to report a poorer sleep quality (OR 2.114; 95% CI: 0.149\u0026ndash;1.348, p\u0026thinsp;=\u0026thinsp;0.002), depressive symptoms (OR 1.126; 95% CI: 0.128\u0026ndash;0.366, p\u0026thinsp;=\u0026thinsp;0.006) and a worse quality of life (OR 0.933; 95% CI: 0.015\u0026ndash;0.001, p\u0026thinsp;=\u0026thinsp;0.007).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eUnivariate logistic regression models, association between tool questionnaires and suicidal thoughts. PSQI\u0026thinsp;=\u0026thinsp;Pittsburgh Questionnaire Index; PHQ-9\u0026thinsp;=\u0026thinsp;Patient Health Questionnaire-9; SF-36\u0026thinsp;=\u0026thinsp;Short Form Health Survey-36.\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colspan=\"3\" nameend=\"c4\" namest=\"c2\"\u003e \u003cp\u003eUnivariate models\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOR\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003e95% CI\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003ep value\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePSQI\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e2.114\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.149\u0026ndash;1.348\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e0.002\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePHQ-9\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1.126\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.128\u0026ndash;0.366\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e0.009\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSF-36\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.933\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.015\u0026ndash;0.001\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e0.007\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eTo the best of our knowledge, this is the first study that explores the presence of suicidal thoughts in individuals with a diagnosis of SMA. From the analysis of our research, suicidal thoughts were observed in 66% of the sample.\u003c/p\u003e \u003cp\u003eThe high prevalence of suicidal thoughts observed in this study aligns with the broader literature on chronic illnesses, where mental health disorders, particularly depression, are often present alongside physical health challenges [\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e]. In the context of SMA, which involves progressive motor dysfunction, respiratory difficulties, and other multisystem impairments, the added burden of psychological distress is unsurprising. Research has consistently demonstrated that chronic physical illnesses can exacerbate depressive symptoms, which in turn contribute to the development of suicidal thoughts [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eThe role of gender in the prevalence of suicidal thoughts is also noteworthy; female participants in this study were more likely to report suicidal ideation, a finding consistent with existing research [\u003cspan additionalcitationids=\"CR28\" citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e]. Studies have shown that psychological distress, including depression and anxiety, is often more prevalent in women, potentially due to biological, hormonal, and psychosocial factors [\u003cspan additionalcitationids=\"CR31\" citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e]. These gender differences highlight the need for gender-sensitive interventions in managing mental health in SMA patients.\u003c/p\u003e \u003cp\u003eSleep disturbances were also strongly associated with suicidal thoughts in our sample. Poor sleep quality has been widely recognized as a risk factor for both depression and suicidal behaviors in various populations [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. In motor neuron diseases, including SMA, patients frequently experience sleep-related issues such as insomnia and fragmented sleep, which may exacerbate their psychological distress. The results of this study further reinforce the importance of addressing sleep disturbances in the comprehensive care of SMA patients to mitigate the risk of suicidal thoughts.\u003c/p\u003e \u003cp\u003eDepressive symptoms emerged as another significant predictor of suicidal thoughts. This finding is consistent with the literature that underscores depression as a critical risk factor for suicidal behaviors [\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e]. The neuroendocrine and immune dysregulation observed in depression likely exacerbates the physical symptoms of SMA, thereby creating a vicious cycle of worsening physical and mental health [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. Addressing depression in this population is essential not only to improve psychological well-being but also to enhance overall quality of life.\u003c/p\u003e \u003cp\u003eThe association between suicidal thoughts and quality of life further underscores the profound impact of SMA on patients' daily functioning. Poor quality of life, characterized by limitations in physical, emotional, and social domains, can severely diminish an individual's sense of purpose and self-worth, thus heightening the risk of suicidal ideation [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. Comprehensive interventions targeting physical impairments and psychosocial factors are crucial in reducing this risk.\u003c/p\u003e \u003cp\u003eNotably, unemployment was significantly more prevalent among individuals with suicidal thoughts compared to those without. This supports a well-established association between unemployment and heightened suicide risk, as economic instability and loss of purpose are known contributors to mental health decline and suicidal ideation [\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e]. Addressing unemployment and promoting economic support systems may thus be critical in mitigating suicide risk in this population.\u003c/p\u003e \u003cp\u003eFinally, the evidence that emerged from our study is in line with other investigations in populations with neuromuscular diseases such as amyotrophic lateral sclerosis, where the increased risk of suicide is related to factors like progressive loss of mobility, severe physical impairment, and perceived quality of life decline. Anxiety, depression, and feelings of hopelessness also appear to elevate suicidal ideation in this population [\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e, \u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eAlthough this study provides valuable insights, several limitations must be acknowledged. The cross-sectional design limits our ability to draw causal conclusions about the relationship between suicidal thoughts, sleep quality, depressive symptoms, and quality of life. Additionally, reliance on self-reported measures may introduce bias, as clinical diagnoses were not independently verified. Furthermore, a limitation of this study is that it included only two types of SMA, which restricts the generalizability of the findings.\u003c/p\u003e \u003cp\u003eFuture research would benefit from longitudinal designs and the inclusion of clinical assessments to validate self-reported data.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eIn conclusion, suicide prevention in patients with SMA requires a comprehensive, multidisciplinary approach due to the physical, emotional, and psychological challenges posed by the condition. Early screening for mental health disorders should be integrated into routine care alongside physical health monitoring. Providing psychological support, such as cognitive-behavioral therapy (CBT), can help patients develop coping strategies and reduce feelings of hopelessness. Social support networks, including family counseling and peer support groups, could be important resources in reducing isolation and improving quality of life. Additionally, ensuring access to adaptive technologies and rehabilitation services can foster independence and mitigate frustration, further protecting mental well-being. Finally, collaborative efforts between healthcare providers, mental health specialists, and caregivers are essential to implementing individualized care plans focused on both physical and emotional health, ultimately reducing suicide risk in this population.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWe thank the Italian Association of SMA patients ASAMSI (Associazione per lo studio dell\u0026rsquo;atrofia muscolare spinale infantile).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eClinical trial number\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding declaration\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent to Publish declaration\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll the authors approved the final version of the manuscript.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eHuman Ethics and Consent to Participate declarations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll the participants signed an informed consent to participate in the study.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData availability\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe data supporting this study\u0026rsquo;s findings are available from the corresponding author upon request.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eV.B.: drafting of the manuscript for content; major role in the acquisition of data; study concept or design; analysis and interpretation of data.G.V.: drafting of the manuscript for content; major role in the acquisition of data; study concept or design.R.L.: major role in the acquisition of data, drafting of the manuscript for content.G.R.: drafting of the manuscript for content.R.D.S.: major role in the acquisition of data.M.S: drafting of the manuscript for content.S.R.: drafting of the manuscript for content.D.D.R.: study concept or design, analysis, and interpretation of data.G.P.: major role in the acquisition of data; study concept or design.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eD'Amico A, Mercuri E, Tiziano FD, Bertini E. 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J Neurol Sci. 2009;283(1\u0026ndash;2):69\u0026ndash;72.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"SMA, Suicidal thoughts, Sleep quality, Depression, Quality of life","lastPublishedDoi":"10.21203/rs.3.rs-5374782/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5374782/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e \u003cp\u003eSpinal muscular atrophy (SMA) is a rare neuromuscular disorder characterized by progressive motor and respiratory dysfunction. Psychological disorders, including depression and suicidal ideation, frequently accompany severe chronic illnesses; however, in the context of SMA, evidence is scant. This study aimed to assess the presence of suicidal thoughts among SMA patients and to explore their associations with sleep quality, depressive symptoms, and overall quality of life.\u003c/p\u003e\u003ch2\u003eMethods\u003c/h2\u003e \u003cp\u003eWe conducted a cross-sectional survey involving 50 adults with SMA in Italy. Participants aged 18\u0026ndash;65 with a confirmed genetic diagnosis of 5qSMA were asked to complete a set of questionnaires comprising the Pittsburgh Sleep Quality Index (PSQI), Patient Health Questionnaire-9 (PHQ-9), Short Form Health Survey-36 (SF-36), and additional sociodemographic and clinical information.\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eComplete data were obtained for 50 patients. The sample was stratified into two groups based on the presence or absence of suicidal thoughts, as indicated by the PHQ-9. Female gender was the most represented in the group with suicidal thoughts (70%) with a mean age of 40. Suicidal thoughts were significantly associated with PSQI (OR\u0026thinsp;=\u0026thinsp;2.11, 95% CI 0.14\u0026ndash;1.34, p\u0026thinsp;=\u0026thinsp;0.002), PHQ-9 (OR\u0026thinsp;=\u0026thinsp;1.12, 95% CI 0.12\u0026ndash;0.36, p\u0026thinsp;=\u0026thinsp;0.009) and SF-36 (OR\u0026thinsp;=\u0026thinsp;0.93, 95% CI 0.01-0.0, p\u0026thinsp;=\u0026thinsp;0.007).\u003c/p\u003e\u003ch2\u003eConclusions\u003c/h2\u003e \u003cp\u003eIn conclusion, our findings demonstrate a significant relationship between poor sleep quality, depressive symptoms, and suicidal ideation in adults with SMA. Specifically, individuals reporting poorer sleep quality were more likely to experience heightened depressive symptoms, which, in turn, were strongly associated with the presence of suicidal thoughts. These results highlight the importance of addressing both sleep disturbances and mental health issues in this population to mitigate the risk of suicidal thoughts and improve overall quality of life.\u003c/p\u003e","manuscriptTitle":"Suicidal thoughts and their relationship with sleep quality, depressive symptoms, and quality of life in adults with Spinal Muscular Atrophy","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-11-19 07:17:25","doi":"10.21203/rs.3.rs-5374782/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"6d372693-e30a-4620-bed1-97f2fd11e030","owner":[],"postedDate":"November 19th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2025-01-10T13:38:53+00:00","versionOfRecord":[],"versionCreatedAt":"2024-11-19 07:17:25","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5374782","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5374782","identity":"rs-5374782","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}