Uncovering Comorbid Psychopathology in Children With Duchenne Muscular Dystrophy: Insights From an Observational Study

Uncovering Comorbid Psychopathology in Children With Duchenne Muscular Dystrophy: Insights From an Observational Study | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Uncovering Comorbid Psychopathology in Children With Duchenne Muscular Dystrophy: Insights From an Observational Study Begum YULUG TAS, Yıgıthan GUZIN, Simge KOKTURK, Eylem OGUN, Simge Kezban KUYUCU KARADUMAN, and 2 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8170073/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 7 You are reading this latest preprint version Abstract Background Duchenne Muscular Dystrophy (DMD) is the most common inherited childhood muscular dystrophy, caused by mutations in the DMD gene on the X chromosome. It is characterized by progressive muscle weakness and functional loss, which may contribute to psychiatric and neurodevelopmental conditions such as anxiety, depression, attention deficit hyperactivity disorder (ADHD), and autism spectrum traits. These comorbidities, together with motor function impairment, negatively affect daily functioning, social adaptation, and quality of life. This study aimed to evaluate both the physical impact, including motor function, and the accompanying psychiatric and neurodevelopmental features in children and adolescents with DMD. Methods Forty-three children with genetically confirmed DMD were included and classified by ambulatory status using the Ambulatory Functional Classification System for DMD (AFCSD), with levels 4–5 considered non-ambulatory. Structured interviews with K-SADS-PL assessed psychiatric comorbidities, and cognitive function was evaluated using the Wechsler Intelligence Scale for Children–Revised (WISC-R). Parents completed questionnaires on attention deficit and hyperactivity (ADHD Rating Scale), autistic traits (ASSQ), and anxiety and depressive symptoms (RCADS). Psychiatric and cognitive outcomes were compared by ambulatory status. Results Participants had a mean age of 9.9 ± 1.9 years; 72% were ambulatory and 81% received special education. Psychiatric assessment revealed that 83% had at least one comorbid disorder, predominantly ADHD (58%), anxiety (21%), and major depressive disorder (5%). Mean total IQ was 78. RCADS total scores exceeded cutoff values, indicating clinically significant anxiety and depression, while ADHD and ASSQ scores were generally below population thresholds. No significant differences in psychiatric or behavioral measures were observed between ambulatory and non-ambulatory children, though cognitive scores were lower in non-ambulatory participants (p = 0.039). Conclusions Children and adolescents with DMD exhibit a high prevalence of psychiatric comorbidities that are not solely determined by motor function. Cognitive profiles are variable, emphasizing the need to assess both global and domain-specific abilities. Early, multidisciplinary follow-up and intervention can mitigate psychiatric symptom burden and support psychosocial well-being. Neuropsychiatry dystrophin psychopathology BACKGROUND Duchenne Muscular Dystrophy (DMD) is the most common hereditary muscle dystrophy in childhood and arises from mutations in the DMD gene located on the X chromosome. This disorder is characterized by progressive muscle weakness and functional loss; however, recent studies have shown that individuals with DMD are also at high risk for neurodevelopmental and psychiatric comorbidities ( 1 ). In particular, anxiety and depression ( 2 ), attention-deficit/hyperactivity disorder (ADHD) ( 3 ), and features of autism spectrum disorder (ASD) ( 4 ) are frequently observed comorbidities in this population. In a systematic study, anxiety disorders were reported in 24% of individuals with DMD, ADHD in 18%, depression in 11%, ASD in 7%, and obsessive-compulsive disorder in 12% ( 5 ). These psychopathologies have significant impacts on daily life, social adaptation, and quality of life, and require early detection and appropriate intervention. The chronic nature of DMD leads to the loss of physical independence in daily life activities and a need for continuous care. This situation may increase the risk of developing depression, anxiety, and other psychopathological symptoms in children ( 6 ). Difficulties in social interactions, declines in academic performance, and uncertainties about the future can adversely affect children’s psychological well-being ( 2 ). A study conducted in 2008 reported that emotional and behavioral difficulties in these children were higher compared to the general pediatric population, with elevated rates of anxiety and depression ( 7 ). Notably, children experiencing lower extremity functional loss were observed to have higher rates of these internalizing symptoms ( 6 ). Additional psychopathologies, combined with the physical effects of the disease, may negatively impact quality of life and complicate treatment processes ( 8 ). In individuals with DMD, difficulties are commonly observed in attention, memory, and executive functions. These cognitive impairments are reported to become more pronounced as the disease progresses and follow a course parallel to motor function loss. Decreased cognitive capacity is associated with specific learning difficulties (particularly in reading, written expression, and language processing), the development of autism and other neurodevelopmental disorders, and the effects of mutations in the dystrophin gene on the central nervous system ( 9 ). A systematic study reported that ADHD rates in children with DMD ranged from 11% to 32%, higher than in the healthy population ( 5 ). ADHD symptoms, particularly distractibility, impulsivity, and difficulties in behavioral control, reduce school performance, lead to conflicts in peer relationships, and increase intra-familial stress levels ( 10 ). Loss of ambulation in DMD is defined not only by a decline in motor function but also as a potential determinant of psychosocial stress due to increased dependency, reduced social participation, and markedly limited daily functioning ( 11 ). When behavioral problems combine with the physical limitations of the disease, they can lead to decreased self-efficacy, social withdrawal, and increased depressive symptoms in the individual ( 8 ). The presence of these symptoms also imposes an additional psychological burden on family members, contributing to elevated anxiety and burnout levels among parents ( 12 ). Accordingly, the aim of our study was to examine not only the physical impact of DMD but also the accompanying psychopathological symptoms and neurodevelopmental features, thereby fostering a more comprehensive understanding of the disease. METHODS A total of 43 patients diagnosed with DMD through clinical and genetic evaluations ( 13 ) and followed at the İzmir XXX Pediatric Neurology Clinic Muscle Center were included in our study. Cases were classified for ambulation loss according to the Ambulatory Functional Classification System for Duchenne Muscular Dystrophy (AFCSD) ( 14 ). The AFCSD categorizes patients into five levels based on walking and postural function. Levels 1–2 correspond to independent walking (with normal or abnormal gait patterns), while level 3 indicates walking short distances with assistive devices. Levels 4–5 are characterized by inability to walk and the need for a wheelchair, and patients in this group are considered immobilized. In our study, patients at levels 4–5 were considered non-ambulatory. All participants referred to the child psychiatry clinic, together with their parents, were individually interviewed by the researcher. To identify comorbid psychiatric disorders and enhance diagnostic reliability, assessments were conducted using the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version (K-SADS-PL). Following this interview, the Wechsler Intelligence Scale for Children–Revised (WISC-R) was administered to assess the cognitive level of each child. Additionally, parents were asked to complete standardized questionnaires to assess specific symptom domains: the ADHD Rating Scale to evaluate attention deficit and impulsivity, the Autism Spectrum Screening Questionnaire (ASSQ) to assess autistic traits, and the Revised Child Anxiety and Depression Scale (RCADS) to measure anxiety and depressive symptoms. Patients who required invasive or non-invasive mechanical ventilation and those younger than 8 years or older than 12 years were excluded from the study. In addition, patients whose diagnoses were based solely on muscle biopsy without a confirmed genetic diagnosis were not included. The study was conducted in accordance with the principles of the Declaration of Helsinki and was approved by the XXXXX Clinical Research Ethics Committee (Decision No: 2025/03–23). Instruments Sociodemographic Data Form This form was developed by the researcher based on previous studies in the literature and was completed using information obtained from parents. The form includes data regarding the sociodemographic characteristics as well as the medical and clinical history of the child and family. In addition, the presence or absence of lower extremity functional loss was evaluated within the scope of this form. Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version (K-SADS-PL) This instrument is used to assess lifetime comorbid psychopathologies in children. When diagnostic symptoms are identified during the initial interview, an additional evaluation checklist is administered. The presence and severity of positive findings are determined based on feedback from the clinician, family, and participant. The standardization of the form has been conducted for Turkish children ( 15 , 16 ). ADHD Rating Scale This scale comprises 41 items across four subdomains, designed to assess ADHD and its two frequent comorbidities, Oppositional Defiant Disorder and Conduct Disorder in alignment with its description and criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Responses are scored on a scale from 0 to 3. The cutoff scores for the Attention Deficit (AD), Hyperactivity-Impulsivity (HI), and Oppositional Defiant (OD) subscales are 6, 6, and 5, respectively. The standardization of the scale for Turkish participants was conducted by Ercan et al. ( 17 ). Autism Spectrum Screening Questionnaire (ASSQ) The ASSQ consists of 27 statements and is used as a screening tool to identify and initiate early intervention for ASD. Initially designed to screen for Asperger’s Syndrome in school-age children, it was later renamed under the broader category of autism and recognized as a reliable screening tool in assessing autistic traits ( 18 ). Kose and colleagues have established the validity and reliability of the scale in the Turkish population with a cut-off of 16 or higher being considered highly indicative of ASD in distinguishing clinical groups from controls ( 19 ). Revised Child Anxiety and Depression Scale (RCADS) The RCADS was developed to screen for anxiety disorders and depression in children and adolescents. Both parent and child versions are available. The scale includes subscales for generalized anxiety disorder, separation anxiety disorder, social anxiety disorder, panic disorder, obsessive-compulsive disorder, and major depressive disorder. A total score of 25 has been established as the cutoff value. The Turkish validity and reliability study was conducted by Görmez et al. ( 20 ). Wechsler Intelligence Scale for Children – Revised (WISC-R) The WISC-R is a standardized intelligence test developed by Wechsler for children ( 21 ). The test consists of 12 subtests from which Verbal IQ (VIQ) and Performance IQ (PIQ) scores are derived. The Total IQ (TIQ) score is obtained by combining the VIQ and PIQ scores. The Turkish adaptation of the test has been found to be reliable, with Cronbach’s alpha coefficients of 0.97 for VIQ, 0.93 for PIQ, and 0.97 for TIQ ( 22 ). Statistical Analysis Statistical analyses were performed using version 22 of the Statistical Package for the Social Sciences (SPSS) for Windows™ (IBM Corporation, Armonk, NY). The normality of variable distributions was assessed using the Shapiro–Wilk test. Continuous variables were summarized as mean ± standard deviation, while categorical variables were presented as counts and percentages. Pearson correlation analysis was conducted to evaluate the relationship between scale scores and WISC-R TIQ. The relationship between literacy status and WISC-R total score, as well as between scale scores and WISC-R total score in ambulatory versus non-ambulatory cases, was compared using an independent samples t-test or Mann–Whitney U test, depending on the assumption of normality. Associations between categorical variables were evaluated using the chi-square test. A p-value of < 0.05 was considered statistically significant (two-tailed). RESULTS A total of 43 participants were included in the study. The mean age of the participants was 9.9 ± 1.9 years, and the mean age at diagnosis was 3.9 ± 2.5 years. The mean age of walking onset was 17.51 ± 6.971 months, the age of first single words was 18.58 ± 10.525 months, and sentence formation skills were observed at 27.44 ± 15.782 months. Of the participants, 32.6% (n = 14) were able to perform self-care independently, while 67.4% (n = 29) required assistance; 27.9% (n = 12) could not walk independently, whereas 72.1% (n = 31) were able to walk independently. Additionally, 81.4% (n = 35) of the participants received special education, while 16.3% (n = 7) did not. Regarding psychiatric medication use, 6% (n = 3) were using medication, whereas 93% (n = 40) were not. To assess psychiatric comorbidities, the KSADS interview conducted by the researcher revealed that 83% (n = 36) of participants had at least one additional psychiatric diagnosis. Among these, 58.1% (n = 25) had ADHD, 20.9% (n = 9) had an anxiety disorder, and 4% (n = 2) had major depressive disorder (MDD). The mean VIQ was 75.77 ± 18.928, PIQ was 82.93 ± 19.341, and TIQ was 78.19 ± 18.036 (Table 1 ). Table 1 Clinical Findings of the Cases K-SADS-PL n (%) Presence of psychopathology ADHD Anxiety Disorder Major Depressive Disorder 36 (83) 25 (58.1) 9 (20.9) 2 ( 4 ) K-SADS-PL: Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version , ADHD: Attention-Deficit/Hyperactivity Disorder Descriptive statistics are presented as frequency (n) and percentage (%) The RCADS total score was 27 ± 17.642, exceeding the cutoff value for the total group. Subscale scores were as follows: social phobia 5.72 ± 3.667, panic disorder 2.77 ± 2.975, MDD 6.56 ± 5.044, separation anxiety 5.19 ± 4.452, generalized anxiety disorder 3.58 ± 2.413, and OCD 3.07 ± 2.947. The ASSQ total score was 13.0 ± 7.620, which was below the cutoff for the Turkish population. ADHD Rating Scale scores were as follows: AD subscale 4.53 ± 2.186, HI subscale 3.88 ± 2.322, and OD subscale 1.16 ± 1.825, all below the cutoff for the Turkish population. Correlations between WISC-R TIQ and scale scores were examined. Although negative correlations were observed between TIQ and ADHD Rating Scale AD subscale (r = -0.085; p = 0.589), HI subscale (r = -0.153; p = 0.329), OD subscale (r = -0.078; p = 0.618), ASSQ (r = -0.242; p = 0.118), and RCADS total score (r = -0.012; p = 0.941), none reached statistical significance. A significant association was found between literacy skills and WISC-R TIQ (p < 0.001) (Table 2 ). Table 2 Correlations of WISC-R Total IQ with clinical scale scores and comparison of WISC-R Total IQ by literacy status WISC-R TIQ Correlation (r) p-value ADHD Rating Scale* AD HI OD -0,085 -0,153 -0,078 0,589 0,329 0,618 ASSQ* -0,242 0,118 RCADS Total Score* -0,012 0,94 Literacy Status** Not literate Literate 64.54 ± 10.572 84.1 ± 17.47 0.001 WISC-R TIQ: Wechsler Intelligence Scale for Children – Revised Total Intelligence Quotient , ADHD: Attention-Deficit/Hyperactivity Disorder, AD: Attention Deficit, HI: Hyperactivity-Impulsivity, OD: Oppositional Defian, ASSQ: Autism Spectrum Screening Questionnaire, RCADS: Revised Child Anxiety and Depression Scale *Pearson correlation analysis was used for continuous variables; **Student’s t-test was used for group comparisons. Values are presented as mean ± standard deviation (SD). When scale scores were compared between ambulatory and non-ambulatory participants, no significant differences were observed for RCADS total score (p = 0.18), ASSQ total score (p = 0.169), ADHD Rating Scale AD subscale (p = 0.639), HI subscale (p = 0.499), or OD subscale (p = 0.839). However, a significant difference was found for WISC-R total score (p = 0.039) (Table 3 ). According to K-SADS-PL evaluation, participants with additional psychiatric diagnoses were combined into one group and compared with those without such diagnoses. Comparison of ambulatory and non-ambulatory participants regarding the presence of additional psychiatric diagnoses revealed no significant association (p = 0.09) Table 3 Comparison of scale scores and psychiatric comorbidities between ambulatory and non-ambulatory participants Ambulatory (n = 31) Mean ± SD / n (%) Non-Ambulatory (n = 12) Mean ± SD / n (%) p-value χ² ADHD Rating Scale* AD HI OD 4.61 ± 2.45 4.03 ± 2.37 1.13 ± 1.91 4.33 ± 1.37 3.50 ± 2.24 1.25 ± 1.66 0.639 0.499 0.839 ASSQ* 12.00 ± 7.29 15.83 ± 8.08 0.169 RCADS Total Score* 24.45 ± 15.99 33.58 ± 20.30 0.180 WISC-R TIQ* 81.68 ± 17.64 69.17 ± 16.43 0.039 K-SADS-PL** No psychopathology Presence of psychopathology 3 ( 10 ) 27 (90) 4 (30.8) 9 (69.2) 0.09 2.871 ADHD:Attention-Deficit/Hyperactivity Disorder, AD: Attention Deficit, HI: Hyperactivity-Impulsivity, OD: Oppositional Defian, ASSQ: Autism Spectrum Screening Questionnaire, RCADS: Revised Child Anxiety and Depression Scale, WISC-R TIQ: Wechsler Intelligence Scale for Children – Revised Total Intelligence Quotient Values are presented as mean ± standard deviation (SD) for continuous variables and as n (%) for categorical variables. Student’s t-test was used for continuous variables, and categorical variables were compared using the Chi-square (χ²) test. Bold p-values indicate statistical significance (p < 0.05). DISCUSSION In this study, psychiatric symptoms, neurodevelopmental profiles, and cognitive status, as well as their relationships with motor function, were examined in children and adolescents diagnosed with DMD. The findings indicate that the psychosocial dimension is a critical component in the management of DMD and that long-term, multidisciplinary follow-up may have significant effects. Despite the high prevalence of ADHD diagnosis, the low scale scores and relatively elevated anxiety scores may indicate a common discrepancy between clinical interviews and self-report/parent-report measures. Individuals with DMD and similar neuromuscular disorders have been found to exhibit more pronounced internalizing symptoms, with parents more readily reporting internal emotional symptoms during behavioral assessments ( 23 ). RCADS total scores exceeding the cut-off point indicate the presence of clinical-level anxiety and depression risk in children and adolescents with DMD. This finding is consistent with recent studies reporting a high prevalence of anxiety disorders in patients with DMD and Becker muscular dystrophy, which report anxiety rates around 20–25% ( 5 ). Although the literature frequently suggests that loss of motor function may be a determinant of psychiatric symptoms, our study did not observe a significant difference between ambulatory and non-ambulatory cases; this suggests that motor limitations alone are not the sole determinant of anxiety and depression, and that social isolation, chronic disease stress, and familial and environmental factors play a much more central role. This result has been similarly reported in previous studies, emphasizing the importance of psychosocial factors in children and adolescents with DMD while limiting the relationship between motor function level and anxiety/depression ( 24 , 25 ). K-SADS-PL evaluations revealed that a large proportion of cases in our sample had at least one psychiatric comorbidity, with ADHD being particularly prevalent. This finding indicates a high psychiatric risk in children and adolescents with DMD. Review of the literature shows that the prevalence of ADHD in individuals with DMD is approximately 18%, while anxiety disorders may reach up to 24% ( 5 ). Interestingly, the scores of the ADHD Rating Scale and ASSQ remained below the cut-off values. This suggests that, despite a high psychiatric risk potential, early diagnosis, regular multidisciplinary follow-up, and timely intervention may help control clinical symptoms. Multidisciplinary approaches and early psychiatric interventions in children with DMD have been reported to reduce the severity of anxiety, depression, and ADHD symptoms and improve quality of life ( 26 ). Therefore, this finding indicates that, although psychiatric risk is significant in DMD, proactive care and early intervention can limit symptom burden. Furthermore, although the prevalence of ADHD and other neurodevelopmental disorders is reported to be high in individuals with DMD, the relationship between symptom severity and daily functioning is complex; in some cases, clinical ADHD may be present while standard scales may not fully reflect the symptoms ( 27 ). Although studies have reported a high risk of ASD in children with DMD ( 28 ), the low ASSQ scores in our sample suggest a limited ASD risk. However, assessing ASD risk solely based on scale scores may be misleading, as some neurodevelopmental symptoms in DMD may manifest at mild or subclinical levels ( 29 ). These findings therefore indicate that psychiatric and neurodevelopmental risks in DMD may be partially independent and that early intervention can substantially control symptom burden. Our study demonstrates that cognitive functions in children with DMD show wide variability and are consistent with the profile reported in the literature. Previous reviews have shown that, in children with DMD, total IQ as well as verbal and performance scores are approximately one standard deviation below normative values. The literature suggests that verbal intelligence may be more affected than performance intelligence, supporting the presence of specific verbal weaknesses in DMD ( 30 , 31 ). In our study, the negative, although not statistically significant, correlations observed between total IQ and scale scores indicate a limited direct relationship between cognitive capacity and psychopathological symptoms. This finding aligns with previously reported weak correlations between high ADHD prevalence and overall IQ in the literature, suggesting that psychopathological symptoms cannot be explained solely by general intelligence, and that specific neurodevelopmental mechanisms such as executive functions, working memory, or genetic factors may play a role ( 32 ). Furthermore, the significant positive relationship observed between literacy skills and TIQ indicates a close association between academic performance and cognitive capacity, and suggests that children with DMD may have specific difficulties in language and reading domains ( 33 ). These findings highlight the importance of cognitive assessments in DMD focusing not only on total IQ but also on subdomains and academic skills. In our study, the lack of a significant difference in scale scores and the presence of additional psychiatric diagnoses between ambulatory and non-ambulatory cases indicates that motor function loss is not a direct determinant of additional psychiatric symptoms, and that emotional and behavioral symptoms in DMD do not progress linearly with clinical stage. This finding suggests that an approach focusing solely on physical impairments in DMD management may be insufficient. Our results are consistent with variability reported in the literature, suggesting that psychiatric symptoms may depend more on individual and environmental factors than on motor stage ( 34 ). A study conducted in 2018 reported that ambulatory status did not determine psychological morbidity, and that symptom variability was explained by individual and environmental modulators ( 35 ). The significant relationship between WISC-R TIQ and ambulation suggests that cognitive performance shows a closer neurobiological parallel with progressive loss of motor function, whereas the psychiatric symptom pattern does not follow this linear model. This dissociation may be related to the protective effects of regular monitoring by pediatric neurology and child psychiatry from the time of diagnosis, early diagnosis–early intervention, psychoeducation, family counseling, and psychosocial support provided to our sample. The literature emphasizes that multidisciplinary care models involving neurology, rehabilitation, psychiatry, and other disciplines from the time of diagnosis have positive effects on quality of life, functionality, and psychosocial well-being in individuals with DMD ( 35 ). These findings indicate that multidisciplinary monitoring and intervention from the time of diagnosis may not only preserve motor functions but also play a protective role in managing psychiatric symptoms. Strenghts and Limitations A key strength of this study is its focus on a well-defined patient group, providing unique insights into children and adolescents with DMD. Unlike previous studies that primarily address motor function, our research also explores psychiatric and cognitive aspects, offering a more comprehensive understanding of the condition. Nevertheless, the study has some limitations: the absence of a healthy control group restricts direct comparisons, and the relatively small sample size may limit the generalizability of our findings. CONCLUSIONS This study demonstrates that children and adolescents with DMD exhibit high rates of psychiatric and neurodevelopmental risk, yet the severity of these symptoms appears to be only partially related to motor function. While anxiety and depressive symptoms were elevated, ambulatory status did not differentiate psychiatric burden, suggesting that psychosocial and environmental factors may play a more influential role than physical disability alone. Cognitive performance showed considerable variability, and the association between lower intellectual functioning and loss of ambulation supports the possibility that motor and cognitive domains may share overlapping neurobiological mechanisms. In contrast, the absence of a parallel relationship between cognitive level and psychiatric symptoms highlights the distinct mechanisms underlying emotional–behavioral outcomes in DMD. The relatively low severity of measurable ADHD and autism-related symptoms—despite high comorbidity detected through clinical interviews—further suggests that early diagnosis, continuous multidisciplinary follow-up, and timely psychosocial interventions may mitigate the expression of psychiatric symptoms. Overall, these findings underscore the need for routine, comprehensive psychiatric and cognitive assessment as part of DMD care, and they support the protective role of sustained multidisciplinary management beginning at the time of diagnosis. Future studies with larger samples and longitudinal designs are warranted to clarify trajectories of neuropsychiatric functioning and to identify modifiable risk factors that can further optimize long-term outcomes in this population. Abbreviations DMD Duchenne Muscular Dystrophy ADHD Attention-Deficit/Hyperactivity Disorder ASD Autism Spectrum Disorder AFCSD Ambulatory Functional Classification System for Duchenne Muscular Dystrophy K-SADS-PL Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version WISC-R Wechsler Intelligence Scale for Children – Revised ASSQ Autism Spectrum Screening Questionnaire RCADS Revised Child Anxiety and Depression Scale AD Attention Deficit HI Hyperactivity-Impulsivity OD Oppositional Defiant VIQ Verbal Intelligence Quotient PIQ Performance Intelligence Quotient TIQ Total Intelligence Quotient SPSS Statistical Package for the Social Sciences Declarations Ethics approval and consent to participate: The ethics approval for this study was obtained from XXXX (approval number: 2025/03–23). All participants and their parents provided both verbal and written informed consent. Consent for publication: Written informed consent for publication was obtained from all participants or their legal guardians. Competing interests: The authors declare that they have no competing interests related to this study. Funding: The authors received no specific funding for this work. Author Contribution The authors confirm contribution to the paper as follows: study conception and design: BYT, YG, FB, SK, EO, SKK, YEK; data collection: BYT, YG, SK, EO. Author; analysis and interpretation of results: BYT, YG, FB; draft manuscript preparation: BYT, YG. All authors reviewed the results and approved the final version of the manuscript. Acknowledgements: We would like to express our sincere gratitude to the patients and their families for their invaluable contributions. Clinical Trial Number : Not applicable. Availability of data and materials: Not applicable. References Vaillend C, Aoki Y, Mercuri E, Hendriksen J, Tetorou K, Goyenvalle A, et al. 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Psychometric Properties of the Parent Version of the Revised Child Anxiety and Depression Scale in a Clinical Sample of Turkish Children and Adolescents. Child Psychiatry Hum Dev. 2017;48(6):922–33. https://doi.org/10.1007/s10578-017-0716-1 . Wechsler D. Manual for the Wechsler Intelligence Scale for Children – Revised (WISC-R). New York: Psychological Corporation; 1974. Savasır I, Sahin N. Wechsler Intelligence Scale for Children – Revised (WISC-R, Turkish adaptation). Ankara: Turkish Psychological Association; 1995. Gosar D, Košmrlj L, Musek PL, Meško T, Stropnik S, Krkoč V, Golli T, Butenko T, Loboda T, Osredkar D. Adaptive skills and mental health in children and adolescents with neuromuscular diseases. Eur J Paediatr Neurol. 2021;30:134–43. https://doi.org/10.1016/j.ejpn.2020.10.008 . Aldırmaz E, Bulut N, Yılmaz O, Alemdaroglu-Gurbuz İ. Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function. Eur J Paediatr Neurol. 2024;52:86–94. https://doi.org/10.1016/j.ejpn.2024.08.004 . Saotome T, Nojima M, Iwase S, Komaki H. Effect of Activities of Daily Living on Quality of Life among Japanese Adults with Duchenne Muscular Dystrophy: A Cross-Sectional Study. J Int Soc Phys Rehabil Med. 2021;4(4):184–90. https://doi.org/10.4103/JISPRM-000134 . Brogna C, Moriconi F, Capasso A, Arpaia C, Cicala G, Ricci M, Villa M, Pellizzari M, De Gioia A, Turano M, Coratti G, Janiri D, Sani G, Pane M, Chieffo DPR, Mercuri E. Identification and treatment of neurodevelopmental and mental disorders in boys and adults with Duchenne muscular dystrophy: a cohort study. Arch Dis Child. 2025;110(11):913–8. https://doi.org/10.1136/archdischild-2024-328344 . Fujino H, Saito T, Matsumura T, Shibata S, Iwata Y, Fujimura H, Imura O. Autism spectrum disorders are prevalent among patients with dystrophinopathies. Neurol Sci. 2018;39(7):1279–82. https://doi.org/10.1007/s10072-018-3341-2 . Miranda R, Nagapin F, Bozon B, et al. Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy. Mol Autism. 2015;6:60. https://doi.org/10.1186/s13229-015-0053-9 . Gregg J, Wilson C, Curran D, Hanna D. Neurocognitive functioning among children and young people with Duchenne Muscular Dystrophy: A systematic review and meta-analysis. Clin Neuropsychol. 2024;38(8):1806–33. https://doi.org/10.1080/13854046.2024.2324500 . Weerkamp PMM, Mol EM, Sweere DJJ, Schrans DGM, Vermeulen RJ, Klinkenberg S, Hurks PPM, Hendriksen JGM. Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis. Brain Sci. 2022;12(11):1544. https://doi.org/10.3390/brainsci12111544 . Tyagi R, Arvind H, Goyal M, Anand A, Mohanty M. Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy. Front Psychol. 2021;11:613242. https://doi.org/10.3389/fpsyg.2020.613242 . Perumal AR, Rajeswaran J, Nalini A. Neuropsychological profile of duchenne muscular dystrophy. Appl Neuropsychol Child. 2015;4(1):49–57. https://doi.org/10.1080/21622965.2013.802649 . Kumar A, Wallace EM, Smith C, Nestel D. Effect of an in-situ simulation workshop on home birth practice in Australia. Women Birth. 2019;32(4):346–55. https://doi.org/10.1016/j.wombi.2018.08.172 . Travlos V, Downs J, Wilson A, Hince D, Patman S. Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? Neuromuscul Disord. 2019;29(1):48–58. https://doi.org/10.1016/j.nmd.2018.08.013 . Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Colvin MK, Cripe L, Herron AR, Kennedy A, Kinnett K, Naprawa J, Noritz G, Poysky J, Street N, Trout CJ, Weber DR, Ward LM, DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445–55. https://doi.org/10.1016/S1474-4422(18)30026-7 . Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Reviews received at journal 15 Jan, 2026 Reviewers agreed at journal 06 Jan, 2026 Reviewers invited by journal 26 Dec, 2025 Editor invited by journal 28 Nov, 2025 Editor assigned by journal 27 Nov, 2025 Submission checks completed at journal 27 Nov, 2025 First submitted to journal 21 Nov, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Study\u003c/p\u003e","fulltext":[{"header":"BACKGROUND","content":"\u003cp\u003eDuchenne Muscular Dystrophy (DMD) is the most common hereditary muscle dystrophy in childhood and arises from mutations in the DMD gene located on the X chromosome. This disorder is characterized by progressive muscle weakness and functional loss; however, recent studies have shown that individuals with DMD are also at high risk for neurodevelopmental and psychiatric comorbidities (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). In particular, anxiety and depression (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e), attention-deficit/hyperactivity disorder (ADHD) (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e), and features of autism spectrum disorder (ASD) (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e) are frequently observed comorbidities in this population. In a systematic study, anxiety disorders were reported in 24% of individuals with DMD, ADHD in 18%, depression in 11%, ASD in 7%, and obsessive-compulsive disorder in 12% (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). These psychopathologies have significant impacts on daily life, social adaptation, and quality of life, and require early detection and appropriate intervention.\u003c/p\u003e \u003cp\u003eThe chronic nature of DMD leads to the loss of physical independence in daily life activities and a need for continuous care. This situation may increase the risk of developing depression, anxiety, and other psychopathological symptoms in children (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). Difficulties in social interactions, declines in academic performance, and uncertainties about the future can adversely affect children\u0026rsquo;s psychological well-being (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). A study conducted in 2008 reported that emotional and behavioral difficulties in these children were higher compared to the general pediatric population, with elevated rates of anxiety and depression (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). Notably, children experiencing lower extremity functional loss were observed to have higher rates of these internalizing symptoms (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). Additional psychopathologies, combined with the physical effects of the disease, may negatively impact quality of life and complicate treatment processes (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eIn individuals with DMD, difficulties are commonly observed in attention, memory, and executive functions. These cognitive impairments are reported to become more pronounced as the disease progresses and follow a course parallel to motor function loss. Decreased cognitive capacity is associated with specific learning difficulties (particularly in reading, written expression, and language processing), the development of autism and other neurodevelopmental disorders, and the effects of mutations in the dystrophin gene on the central nervous system (\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e). A systematic study reported that ADHD rates in children with DMD ranged from 11% to 32%, higher than in the healthy population (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). ADHD symptoms, particularly distractibility, impulsivity, and difficulties in behavioral control, reduce school performance, lead to conflicts in peer relationships, and increase intra-familial stress levels (\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eLoss of ambulation in DMD is defined not only by a decline in motor function but also as a potential determinant of psychosocial stress due to increased dependency, reduced social participation, and markedly limited daily functioning (\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e). When behavioral problems combine with the physical limitations of the disease, they can lead to decreased self-efficacy, social withdrawal, and increased depressive symptoms in the individual (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e). The presence of these symptoms also imposes an additional psychological burden on family members, contributing to elevated anxiety and burnout levels among parents (\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e). Accordingly, the aim of our study was to examine not only the physical impact of DMD but also the accompanying psychopathological symptoms and neurodevelopmental features, thereby fostering a more comprehensive understanding of the disease.\u003c/p\u003e"},{"header":"METHODS","content":"\u003cp\u003eA total of 43 patients diagnosed with DMD through clinical and genetic evaluations (\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e) and followed at the İzmir XXX Pediatric Neurology Clinic Muscle Center were included in our study. Cases were classified for ambulation loss according to the Ambulatory Functional Classification System for Duchenne Muscular Dystrophy (AFCSD) (\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e). The AFCSD categorizes patients into five levels based on walking and postural function. Levels 1\u0026ndash;2 correspond to independent walking (with normal or abnormal gait patterns), while level 3 indicates walking short distances with assistive devices. Levels 4\u0026ndash;5 are characterized by inability to walk and the need for a wheelchair, and patients in this group are considered immobilized. In our study, patients at levels 4\u0026ndash;5 were considered non-ambulatory.\u003c/p\u003e \u003cp\u003eAll participants referred to the child psychiatry clinic, together with their parents, were individually interviewed by the researcher. To identify comorbid psychiatric disorders and enhance diagnostic reliability, assessments were conducted using the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children\u0026mdash;Present and Lifetime Version (K-SADS-PL). Following this interview, the Wechsler Intelligence Scale for Children\u0026ndash;Revised (WISC-R) was administered to assess the cognitive level of each child.\u003c/p\u003e \u003cp\u003eAdditionally, parents were asked to complete standardized questionnaires to assess specific symptom domains: the ADHD Rating Scale to evaluate attention deficit and impulsivity, the Autism Spectrum Screening Questionnaire (ASSQ) to assess autistic traits, and the Revised Child Anxiety and Depression Scale (RCADS) to measure anxiety and depressive symptoms.\u003c/p\u003e \u003cp\u003ePatients who required invasive or non-invasive mechanical ventilation and those younger than 8 years or older than 12 years were excluded from the study. In addition, patients whose diagnoses were based solely on muscle biopsy without a confirmed genetic diagnosis were not included.\u003c/p\u003e \u003cp\u003e\u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003e The study was conducted in accordance with the principles of the Declaration of Helsinki and was approved by the XXXXX Clinical Research Ethics Committee (Decision No: 2025/03\u0026ndash;23).\u003c/span\u003e\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eInstruments\u003c/h2\u003e \u003cp\u003e \u003cstrong\u003eSociodemographic Data Form\u003c/strong\u003e \u003cp\u003eThis form was developed by the researcher based on previous studies in the literature and was completed using information obtained from parents. The form includes data regarding the sociodemographic characteristics as well as the medical and clinical history of the child and family. In addition, the presence or absence of lower extremity functional loss was evaluated within the scope of this form.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eKiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children\u0026mdash;Present and Lifetime Version (K-SADS-PL)\u003c/strong\u003e \u003cp\u003eThis instrument is used to assess lifetime comorbid psychopathologies in children. When diagnostic symptoms are identified during the initial interview, an additional evaluation checklist is administered. The presence and severity of positive findings are determined based on feedback from the clinician, family, and participant. The standardization of the form has been conducted for Turkish children (\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e, \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e).\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eADHD Rating Scale\u003c/strong\u003e \u003cp\u003eThis scale comprises 41 items across four subdomains, designed to assess ADHD and its two frequent comorbidities, Oppositional Defiant Disorder and Conduct Disorder in alignment with its description and criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Responses are scored on a scale from 0 to 3. The cutoff scores for the Attention Deficit (AD), Hyperactivity-Impulsivity (HI), and Oppositional Defiant (OD) subscales are 6, 6, and 5, respectively. The standardization of the scale for Turkish participants was conducted by Ercan et al. (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e).\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eAutism Spectrum Screening Questionnaire (ASSQ)\u003c/strong\u003e \u003cp\u003eThe ASSQ consists of 27 statements and is used as a screening tool to identify and initiate early intervention for ASD. Initially designed to screen for Asperger\u0026rsquo;s Syndrome in school-age children, it was later renamed under the broader category of autism and recognized as a reliable screening tool in assessing autistic traits (\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e). Kose and colleagues have established the validity and reliability of the scale in the Turkish population with a cut-off of 16 or higher being considered highly indicative of ASD in distinguishing clinical groups from controls (\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e).\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eRevised Child Anxiety and Depression Scale (RCADS)\u003c/strong\u003e \u003cp\u003eThe RCADS was developed to screen for anxiety disorders and depression in children and adolescents. Both parent and child versions are available. The scale includes subscales for generalized anxiety disorder, separation anxiety disorder, social anxiety disorder, panic disorder, obsessive-compulsive disorder, and major depressive disorder. A total score of 25 has been established as the cutoff value. The Turkish validity and reliability study was conducted by G\u0026ouml;rmez et al. (\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e).\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eWechsler Intelligence Scale for Children \u0026ndash; Revised (WISC-R)\u003c/strong\u003e \u003cp\u003eThe WISC-R is a standardized intelligence test developed by Wechsler for children (\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e). The test consists of 12 subtests from which Verbal IQ (VIQ) and Performance IQ (PIQ) scores are derived. The Total IQ (TIQ) score is obtained by combining the VIQ and PIQ scores. The Turkish adaptation of the test has been found to be reliable, with Cronbach\u0026rsquo;s alpha coefficients of 0.97 for VIQ, 0.93 for PIQ, and 0.97 for TIQ (\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e).\u003c/p\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003eStatistical Analysis\u003c/h2\u003e \u003cp\u003eStatistical analyses were performed using version 22 of the Statistical Package for the Social Sciences (SPSS) for Windows\u0026trade; (IBM Corporation, Armonk, NY). The normality of variable distributions was assessed using the Shapiro\u0026ndash;Wilk test. Continuous variables were summarized as mean\u0026thinsp;\u0026plusmn;\u0026thinsp;standard deviation, while categorical variables were presented as counts and percentages. Pearson correlation analysis was conducted to evaluate the relationship between scale scores and WISC-R TIQ. The relationship between literacy status and WISC-R total score, as well as between scale scores and WISC-R total score in ambulatory versus non-ambulatory cases, was compared using an independent samples t-test or Mann\u0026ndash;Whitney U test, depending on the assumption of normality. Associations between categorical variables were evaluated using the chi-square test. A p-value of \u0026lt;\u0026thinsp;0.05 was considered statistically significant (two-tailed).\u003c/p\u003e \u003c/div\u003e"},{"header":"RESULTS","content":"\u003cp\u003eA total of 43 participants were included in the study. The mean age of the participants was 9.9\u0026thinsp;\u0026plusmn;\u0026thinsp;1.9 years, and the mean age at diagnosis was 3.9\u0026thinsp;\u0026plusmn;\u0026thinsp;2.5 years. The mean age of walking onset was 17.51\u0026thinsp;\u0026plusmn;\u0026thinsp;6.971 months, the age of first single words was 18.58\u0026thinsp;\u0026plusmn;\u0026thinsp;10.525 months, and sentence formation skills were observed at 27.44\u0026thinsp;\u0026plusmn;\u0026thinsp;15.782 months. Of the participants, 32.6% (n\u0026thinsp;=\u0026thinsp;14) were able to perform self-care independently, while 67.4% (n\u0026thinsp;=\u0026thinsp;29) required assistance; 27.9% (n\u0026thinsp;=\u0026thinsp;12) could not walk independently, whereas 72.1% (n\u0026thinsp;=\u0026thinsp;31) were able to walk independently. Additionally, 81.4% (n\u0026thinsp;=\u0026thinsp;35) of the participants received special education, while 16.3% (n\u0026thinsp;=\u0026thinsp;7) did not. Regarding psychiatric medication use, 6% (n\u0026thinsp;=\u0026thinsp;3) were using medication, whereas 93% (n\u0026thinsp;=\u0026thinsp;40) were not.\u003c/p\u003e \u003cp\u003eTo assess psychiatric comorbidities, the KSADS interview conducted by the researcher revealed that 83% (n\u0026thinsp;=\u0026thinsp;36) of participants had at least one additional psychiatric diagnosis. Among these, 58.1% (n\u0026thinsp;=\u0026thinsp;25) had ADHD, 20.9% (n\u0026thinsp;=\u0026thinsp;9) had an anxiety disorder, and 4% (n\u0026thinsp;=\u0026thinsp;2) had major depressive disorder (MDD). The mean VIQ was 75.77\u0026thinsp;\u0026plusmn;\u0026thinsp;18.928, PIQ was 82.93\u0026thinsp;\u0026plusmn;\u0026thinsp;19.341, and TIQ was 78.19\u0026thinsp;\u0026plusmn;\u0026thinsp;18.036 (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\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\u003eClinical Findings of the Cases\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"2\"\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 \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eK-SADS-PL\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003en (%)\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003ePresence of psychopathology\u003c/span\u003e\u003c/p\u003e \u003cp\u003eADHD\u003c/p\u003e \u003cp\u003eAnxiety Disorder\u003c/p\u003e \u003cp\u003eMajor Depressive Disorder\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e36 (83)\u003c/p\u003e \u003cp\u003e25 (58.1)\u003c/p\u003e \u003cp\u003e9 (20.9)\u003c/p\u003e \u003cp\u003e2 (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"2\"\u003e\u003cem\u003eK-SADS-PL: Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children\u0026mdash;Present and Lifetime Version\u003c/em\u003e, \u003cem\u003eADHD: Attention-Deficit/Hyperactivity Disorder\u003c/em\u003e\u003c/td\u003e\u003c/tr\u003e \u003ctr\u003e\u003ctd colspan=\"2\"\u003e\u003cem\u003eDescriptive statistics are presented as frequency (n) and percentage (%)\u003c/em\u003e\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eThe RCADS total score was 27\u0026thinsp;\u0026plusmn;\u0026thinsp;17.642, exceeding the cutoff value for the total group. Subscale scores were as follows: social phobia 5.72\u0026thinsp;\u0026plusmn;\u0026thinsp;3.667, panic disorder 2.77\u0026thinsp;\u0026plusmn;\u0026thinsp;2.975, MDD 6.56\u0026thinsp;\u0026plusmn;\u0026thinsp;5.044, separation anxiety 5.19\u0026thinsp;\u0026plusmn;\u0026thinsp;4.452, generalized anxiety disorder 3.58\u0026thinsp;\u0026plusmn;\u0026thinsp;2.413, and OCD 3.07\u0026thinsp;\u0026plusmn;\u0026thinsp;2.947. The ASSQ total score was 13.0\u0026thinsp;\u0026plusmn;\u0026thinsp;7.620, which was below the cutoff for the Turkish population. ADHD Rating Scale scores were as follows: AD subscale 4.53\u0026thinsp;\u0026plusmn;\u0026thinsp;2.186, HI subscale 3.88\u0026thinsp;\u0026plusmn;\u0026thinsp;2.322, and OD subscale 1.16\u0026thinsp;\u0026plusmn;\u0026thinsp;1.825, all below the cutoff for the Turkish population.\u003c/p\u003e \u003cp\u003eCorrelations between WISC-R TIQ and scale scores were examined. Although negative correlations were observed between TIQ and ADHD Rating Scale AD subscale (r = -0.085; p\u0026thinsp;=\u0026thinsp;0.589), HI subscale (r = -0.153; p\u0026thinsp;=\u0026thinsp;0.329), OD subscale (r = -0.078; p\u0026thinsp;=\u0026thinsp;0.618), ASSQ (r = -0.242; p\u0026thinsp;=\u0026thinsp;0.118), and RCADS total score (r = -0.012; p\u0026thinsp;=\u0026thinsp;0.941), none reached statistical significance. A significant association was found between literacy skills and WISC-R TIQ (p\u0026thinsp;\u0026lt;\u0026thinsp;0.001) (Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e).\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\u003eCorrelations of WISC-R Total IQ with clinical scale scores and comparison of WISC-R Total IQ by literacy status\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"3\"\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=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\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=\"2\" nameend=\"c3\" namest=\"c2\"\u003e \u003cp\u003eWISC-R TIQ\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eCorrelation (r)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\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\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eADHD Rating Scale*\u003c/span\u003e\u003c/p\u003e \u003cp\u003eAD\u003c/p\u003e \u003cp\u003eHI\u003c/p\u003e \u003cp\u003eOD\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e-0,085\u003c/p\u003e \u003cp\u003e-0,153\u003c/p\u003e\u003cp\u003e-0,078\u003c/p\u003e\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0,589\u003c/p\u003e \u003cp\u003e0,329\u003c/p\u003e \u003cp\u003e0,618\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eASSQ*\u003c/span\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e-0,242\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0,118\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eRCADS Total Score*\u003c/span\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e-0,012\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0,94\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eLiteracy Status**\u003c/span\u003e\u003c/p\u003e \u003cp\u003eNot literate\u003c/p\u003e \u003cp\u003eLiterate\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e64.54\u0026thinsp;\u0026plusmn;\u0026thinsp;10.572\u003c/p\u003e \u003cp\u003e84.1\u0026thinsp;\u0026plusmn;\u0026thinsp;17.47\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e\u003cb\u003e0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"3\"\u003e\u003cem\u003eWISC-R TIQ: Wechsler Intelligence Scale for Children \u0026ndash; Revised Total Intelligence Quotient\u003c/em\u003e, \u003cem\u003eADHD: Attention-Deficit/Hyperactivity Disorder, AD: Attention Deficit, HI: Hyperactivity-Impulsivity, OD: Oppositional Defian, ASSQ: Autism Spectrum Screening Questionnaire, RCADS: Revised Child Anxiety and Depression Scale\u003c/em\u003e\u003c/td\u003e\u003c/tr\u003e \u003ctr\u003e\u003ctd colspan=\"3\"\u003e\u003cem\u003e*Pearson correlation analysis was used for continuous variables; **Student\u0026rsquo;s t-test was used for group comparisons. Values are presented as mean\u0026thinsp;\u0026plusmn;\u0026thinsp;standard deviation (SD).\u003c/em\u003e\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eWhen scale scores were compared between ambulatory and non-ambulatory participants, no significant differences were observed for RCADS total score (p\u0026thinsp;=\u0026thinsp;0.18), ASSQ total score (p\u0026thinsp;=\u0026thinsp;0.169), ADHD Rating Scale AD subscale (p\u0026thinsp;=\u0026thinsp;0.639), HI subscale (p\u0026thinsp;=\u0026thinsp;0.499), or OD subscale (p\u0026thinsp;=\u0026thinsp;0.839). However, a significant difference was found for WISC-R total score (p\u0026thinsp;=\u0026thinsp;0.039) (Table\u0026nbsp;\u003cspan refid=\"Tab3\" class=\"InternalRef\"\u003e3\u003c/span\u003e). According to K-SADS-PL evaluation, participants with additional psychiatric diagnoses were combined into one group and compared with those without such diagnoses. Comparison of ambulatory and non-ambulatory participants regarding the presence of additional psychiatric diagnoses revealed no significant association (p\u0026thinsp;=\u0026thinsp;0.09)\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eComparison of scale scores and psychiatric comorbidities between ambulatory and non-ambulatory participants\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"5\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\"\u0026plusmn;\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\"\u0026plusmn;\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eAmbulatory\u003c/p\u003e \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;31)\u003c/p\u003e \u003cp\u003eMean\u0026thinsp;\u0026plusmn;\u0026thinsp;SD / n (%)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eNon-Ambulatory\u003c/p\u003e \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;12)\u003c/p\u003e \u003cp\u003eMean\u0026thinsp;\u0026plusmn;\u0026thinsp;SD / n (%)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eχ\u0026sup2;\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eADHD Rating Scale*\u003c/span\u003e\u003c/p\u003e \u003cp\u003eAD\u003c/p\u003e \u003cp\u003eHI\u003c/p\u003e \u003cp\u003eOD\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4.61\u0026thinsp;\u0026plusmn;\u0026thinsp;2.45\u003c/p\u003e \u003cp\u003e4.03\u0026thinsp;\u0026plusmn;\u0026thinsp;2.37\u003c/p\u003e \u003cp\u003e1.13\u0026thinsp;\u0026plusmn;\u0026thinsp;1.91\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4.33\u0026thinsp;\u0026plusmn;\u0026thinsp;1.37\u003c/p\u003e \u003cp\u003e3.50\u0026thinsp;\u0026plusmn;\u0026thinsp;2.24\u003c/p\u003e \u003cp\u003e1.25\u0026thinsp;\u0026plusmn;\u0026thinsp;1.66\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.639\u003c/p\u003e \u003cp\u003e0.499\u003c/p\u003e \u003cp\u003e0.839\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eASSQ*\u003c/span\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\"\u0026plusmn;\" colname=\"c2\"\u003e \u003cp\u003e12.00\u0026thinsp;\u0026plusmn;\u0026thinsp;7.29\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\"\u0026plusmn;\" colname=\"c3\"\u003e \u003cp\u003e15.83\u0026thinsp;\u0026plusmn;\u0026thinsp;8.08\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.169\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eRCADS Total Score*\u003c/span\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\"\u0026plusmn;\" colname=\"c2\"\u003e \u003cp\u003e24.45\u0026thinsp;\u0026plusmn;\u0026thinsp;15.99\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\"\u0026plusmn;\" colname=\"c3\"\u003e \u003cp\u003e33.58\u0026thinsp;\u0026plusmn;\u0026thinsp;20.30\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.180\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eWISC-R TIQ*\u003c/span\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\"\u0026plusmn;\" colname=\"c2\"\u003e \u003cp\u003e81.68\u0026thinsp;\u0026plusmn;\u0026thinsp;17.64\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\"\u0026plusmn;\" colname=\"c3\"\u003e \u003cp\u003e69.17\u0026thinsp;\u0026plusmn;\u0026thinsp;16.43\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e0.039\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cspan type=\"BoldUnderline\" class=\"BoldUnderline\" name=\"Emphasis\"\u003eK-SADS-PL**\u003c/span\u003e\u003c/p\u003e \u003cp\u003eNo psychopathology Presence of psychopathology\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e3 (\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e)\u003c/p\u003e \u003cp\u003e27 (90)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4 (30.8)\u003c/p\u003e \u003cp\u003e9 (69.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.09\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e2.871\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"5\"\u003e\u003cem\u003eADHD:Attention-Deficit/Hyperactivity Disorder, AD: Attention Deficit, HI: Hyperactivity-Impulsivity, OD: Oppositional Defian, ASSQ: Autism Spectrum Screening Questionnaire, RCADS: Revised Child Anxiety and Depression Scale, WISC-R TIQ: Wechsler Intelligence Scale for Children \u0026ndash; Revised Total Intelligence Quotient\u003c/em\u003e\u003c/td\u003e\u003c/tr\u003e \u003ctr\u003e\u003ctd colspan=\"5\"\u003e\u003cem\u003eValues are presented as mean\u0026thinsp;\u0026plusmn;\u0026thinsp;standard deviation (SD) for continuous variables and as n (%) for categorical variables. Student\u0026rsquo;s t-test was used for continuous variables, and categorical variables were compared using the Chi-square (χ\u0026sup2;) test. Bold p-values indicate statistical significance (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05).\u003c/em\u003e\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eIn this study, psychiatric symptoms, neurodevelopmental profiles, and cognitive status, as well as their relationships with motor function, were examined in children and adolescents diagnosed with DMD. The findings indicate that the psychosocial dimension is a critical component in the management of DMD and that long-term, multidisciplinary follow-up may have significant effects.\u003c/p\u003e \u003cp\u003eDespite the high prevalence of ADHD diagnosis, the low scale scores and relatively elevated anxiety scores may indicate a common discrepancy between clinical interviews and self-report/parent-report measures. Individuals with DMD and similar neuromuscular disorders have been found to exhibit more pronounced internalizing symptoms, with parents more readily reporting internal emotional symptoms during behavioral assessments (\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e). RCADS total scores exceeding the cut-off point indicate the presence of clinical-level anxiety and depression risk in children and adolescents with DMD. This finding is consistent with recent studies reporting a high prevalence of anxiety disorders in patients with DMD and Becker muscular dystrophy, which report anxiety rates around 20\u0026ndash;25% (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). Although the literature frequently suggests that loss of motor function may be a determinant of psychiatric symptoms, our study did not observe a significant difference between ambulatory and non-ambulatory cases; this suggests that motor limitations alone are not the sole determinant of anxiety and depression, and that social isolation, chronic disease stress, and familial and environmental factors play a much more central role. This result has been similarly reported in previous studies, emphasizing the importance of psychosocial factors in children and adolescents with DMD while limiting the relationship between motor function level and anxiety/depression (\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e, \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eK-SADS-PL evaluations revealed that a large proportion of cases in our sample had at least one psychiatric comorbidity, with ADHD being particularly prevalent. This finding indicates a high psychiatric risk in children and adolescents with DMD. Review of the literature shows that the prevalence of ADHD in individuals with DMD is approximately 18%, while anxiety disorders may reach up to 24% (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). Interestingly, the scores of the ADHD Rating Scale and ASSQ remained below the cut-off values. This suggests that, despite a high psychiatric risk potential, early diagnosis, regular multidisciplinary follow-up, and timely intervention may help control clinical symptoms. Multidisciplinary approaches and early psychiatric interventions in children with DMD have been reported to reduce the severity of anxiety, depression, and ADHD symptoms and improve quality of life (\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e). Therefore, this finding indicates that, although psychiatric risk is significant in DMD, proactive care and early intervention can limit symptom burden. Furthermore, although the prevalence of ADHD and other neurodevelopmental disorders is reported to be high in individuals with DMD, the relationship between symptom severity and daily functioning is complex; in some cases, clinical ADHD may be present while standard scales may not fully reflect the symptoms (\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e). Although studies have reported a high risk of ASD in children with DMD (\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e), the low ASSQ scores in our sample suggest a limited ASD risk. However, assessing ASD risk solely based on scale scores may be misleading, as some neurodevelopmental symptoms in DMD may manifest at mild or subclinical levels (\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e). These findings therefore indicate that psychiatric and neurodevelopmental risks in DMD may be partially independent and that early intervention can substantially control symptom burden.\u003c/p\u003e \u003cp\u003eOur study demonstrates that cognitive functions in children with DMD show wide variability and are consistent with the profile reported in the literature. Previous reviews have shown that, in children with DMD, total IQ as well as verbal and performance scores are approximately one standard deviation below normative values. The literature suggests that verbal intelligence may be more affected than performance intelligence, supporting the presence of specific verbal weaknesses in DMD (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e, \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e). In our study, the negative, although not statistically significant, correlations observed between total IQ and scale scores indicate a limited direct relationship between cognitive capacity and psychopathological symptoms. This finding aligns with previously reported weak correlations between high ADHD prevalence and overall IQ in the literature, suggesting that psychopathological symptoms cannot be explained solely by general intelligence, and that specific neurodevelopmental mechanisms such as executive functions, working memory, or genetic factors may play a role (\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e). Furthermore, the significant positive relationship observed between literacy skills and TIQ indicates a close association between academic performance and cognitive capacity, and suggests that children with DMD may have specific difficulties in language and reading domains (\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e). These findings highlight the importance of cognitive assessments in DMD focusing not only on total IQ but also on subdomains and academic skills.\u003c/p\u003e \u003cp\u003eIn our study, the lack of a significant difference in scale scores and the presence of additional psychiatric diagnoses between ambulatory and non-ambulatory cases indicates that motor function loss is not a direct determinant of additional psychiatric symptoms, and that emotional and behavioral symptoms in DMD do not progress linearly with clinical stage. This finding suggests that an approach focusing solely on physical impairments in DMD management may be insufficient. Our results are consistent with variability reported in the literature, suggesting that psychiatric symptoms may depend more on individual and environmental factors than on motor stage (\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e). A study conducted in 2018 reported that ambulatory status did not determine psychological morbidity, and that symptom variability was explained by individual and environmental modulators (\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e). The significant relationship between WISC-R TIQ and ambulation suggests that cognitive performance shows a closer neurobiological parallel with progressive loss of motor function, whereas the psychiatric symptom pattern does not follow this linear model. This dissociation may be related to the protective effects of regular monitoring by pediatric neurology and child psychiatry from the time of diagnosis, early diagnosis\u0026ndash;early intervention, psychoeducation, family counseling, and psychosocial support provided to our sample. The literature emphasizes that multidisciplinary care models involving neurology, rehabilitation, psychiatry, and other disciplines from the time of diagnosis have positive effects on quality of life, functionality, and psychosocial well-being in individuals with DMD (\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e). These findings indicate that multidisciplinary monitoring and intervention from the time of diagnosis may not only preserve motor functions but also play a protective role in managing psychiatric symptoms.\u003c/p\u003e\n\u003ch3\u003eStrenghts and Limitations\u003c/h3\u003e\n\u003cp\u003eA key strength of this study is its focus on a well-defined patient group, providing unique insights into children and adolescents with DMD. Unlike previous studies that primarily address motor function, our research also explores psychiatric and cognitive aspects, offering a more comprehensive understanding of the condition. Nevertheless, the study has some limitations: the absence of a healthy control group restricts direct comparisons, and the relatively small sample size may limit the generalizability of our findings.\u003c/p\u003e"},{"header":"CONCLUSIONS","content":"\u003cp\u003eThis study demonstrates that children and adolescents with DMD exhibit high rates of psychiatric and neurodevelopmental risk, yet the severity of these symptoms appears to be only partially related to motor function. While anxiety and depressive symptoms were elevated, ambulatory status did not differentiate psychiatric burden, suggesting that psychosocial and environmental factors may play a more influential role than physical disability alone. Cognitive performance showed considerable variability, and the association between lower intellectual functioning and loss of ambulation supports the possibility that motor and cognitive domains may share overlapping neurobiological mechanisms. In contrast, the absence of a parallel relationship between cognitive level and psychiatric symptoms highlights the distinct mechanisms underlying emotional\u0026ndash;behavioral outcomes in DMD. The relatively low severity of measurable ADHD and autism-related symptoms\u0026mdash;despite high comorbidity detected through clinical interviews\u0026mdash;further suggests that early diagnosis, continuous multidisciplinary follow-up, and timely psychosocial interventions may mitigate the expression of psychiatric symptoms. Overall, these findings underscore the need for routine, comprehensive psychiatric and cognitive assessment as part of DMD care, and they support the protective role of sustained multidisciplinary management beginning at the time of diagnosis. Future studies with larger samples and longitudinal designs are warranted to clarify trajectories of neuropsychiatric functioning and to identify modifiable risk factors that can further optimize long-term outcomes in this population.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eDMD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eDuchenne Muscular Dystrophy\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eADHD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAttention-Deficit/Hyperactivity Disorder\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eASD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAutism Spectrum Disorder\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eAFCSD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAmbulatory Functional Classification System for Duchenne Muscular Dystrophy\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eK-SADS-PL\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eKiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children\u0026mdash;Present and Lifetime Version\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eWISC-R\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eWechsler Intelligence Scale for Children \u0026ndash; Revised\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eASSQ\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAutism Spectrum Screening Questionnaire\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eRCADS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eRevised Child Anxiety and Depression Scale\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eAD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eAttention Deficit\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eHI\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eHyperactivity-Impulsivity\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eOD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eOppositional Defiant\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eVIQ\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eVerbal Intelligence Quotient\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003ePIQ\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003ePerformance Intelligence Quotient\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eTIQ\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eTotal Intelligence Quotient\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eSPSS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eStatistical Package for the Social Sciences\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Declarations","content":" \u003cp\u003e \u003cstrong\u003eEthics approval and consent to participate:\u003c/strong\u003e \u003cp\u003eThe ethics approval for this study was obtained from XXXX (approval number: 2025/03\u0026ndash;23). All participants and their parents provided both verbal and written informed consent.\u003c/p\u003e \u003cp\u003e \u003cstrong\u003eConsent for publication:\u003c/strong\u003e \u003cp\u003e Written informed consent for publication was obtained from all participants or their legal guardians.\u003c/p\u003e \u003ch2\u003eCompeting interests:\u003c/h2\u003e \u003cp\u003eThe authors declare that they have no competing interests related to this study.\u003c/p\u003e \u003ch2\u003eFunding:\u003c/h2\u003e \u003cp\u003eThe authors received no specific funding for this work.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eThe authors confirm contribution to the paper as follows: study conception and design: BYT, YG, FB, SK, EO, SKK, YEK; data collection: BYT, YG, SK, EO. Author; analysis and interpretation of results: BYT, YG, FB; draft manuscript preparation: BYT, YG. All authors reviewed the results and approved the final version of the manuscript.\u003c/p\u003e\u003ch2\u003eAcknowledgements:\u003c/h2\u003e \u003cp\u003eWe would like to express our sincere gratitude to the patients and their families for their invaluable contributions.\u003c/p\u003e \u003cp\u003e \u003cb\u003eClinical Trial Number\u003c/b\u003e: Not applicable.\u003c/p\u003e\u003ch2\u003eAvailability of data and materials:\u003c/h2\u003e \u003cp\u003eNot applicable.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eVaillend C, Aoki Y, Mercuri E, Hendriksen J, Tetorou K, Goyenvalle A, et al. Duchenne muscular dystrophy: recent insights in brain related comorbidities. 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Lancet Neurol. 2018;17(5):445\u0026ndash;55. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1016/S1474-4422(18)30026-7\u003c/span\u003e\u003cspan address=\"10.1016/S1474-4422(18)30026-7\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"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":"bmc-pediatrics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bped","sideBox":"Learn more about [BMC Pediatrics](http://bmcpediatr.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bped/default.aspx","title":"BMC Pediatrics","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Neuropsychiatry, dystrophin, psychopathology","lastPublishedDoi":"10.21203/rs.3.rs-8170073/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8170073/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e \u003cp\u003eDuchenne Muscular Dystrophy (DMD) is the most common inherited childhood muscular dystrophy, caused by mutations in the DMD gene on the X chromosome. It is characterized by progressive muscle weakness and functional loss, which may contribute to psychiatric and neurodevelopmental conditions such as anxiety, depression, attention deficit hyperactivity disorder (ADHD), and autism spectrum traits. These comorbidities, together with motor function impairment, negatively affect daily functioning, social adaptation, and quality of life. This study aimed to evaluate both the physical impact, including motor function, and the accompanying psychiatric and neurodevelopmental features in children and adolescents with DMD.\u003c/p\u003e\u003ch2\u003eMethods\u003c/h2\u003e \u003cp\u003eForty-three children with genetically confirmed DMD were included and classified by ambulatory status using the Ambulatory Functional Classification System for DMD (AFCSD), with levels 4\u0026ndash;5 considered non-ambulatory. Structured interviews with K-SADS-PL assessed psychiatric comorbidities, and cognitive function was evaluated using the Wechsler Intelligence Scale for Children\u0026ndash;Revised (WISC-R). Parents completed questionnaires on attention deficit and hyperactivity (ADHD Rating Scale), autistic traits (ASSQ), and anxiety and depressive symptoms (RCADS). Psychiatric and cognitive outcomes were compared by ambulatory status.\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eParticipants had a mean age of 9.9\u0026thinsp;\u0026plusmn;\u0026thinsp;1.9 years; 72% were ambulatory and 81% received special education. Psychiatric assessment revealed that 83% had at least one comorbid disorder, predominantly ADHD (58%), anxiety (21%), and major depressive disorder (5%). Mean total IQ was 78. RCADS total scores exceeded cutoff values, indicating clinically significant anxiety and depression, while ADHD and ASSQ scores were generally below population thresholds. No significant differences in psychiatric or behavioral measures were observed between ambulatory and non-ambulatory children, though cognitive scores were lower in non-ambulatory participants (p\u0026thinsp;=\u0026thinsp;0.039).\u003c/p\u003e\u003ch2\u003eConclusions\u003c/h2\u003e \u003cp\u003eChildren and adolescents with DMD exhibit a high prevalence of psychiatric comorbidities that are not solely determined by motor function. Cognitive profiles are variable, emphasizing the need to assess both global and domain-specific abilities. Early, multidisciplinary follow-up and intervention can mitigate psychiatric symptom burden and support psychosocial well-being.\u003c/p\u003e","manuscriptTitle":"Uncovering Comorbid Psychopathology in Children With Duchenne Muscular Dystrophy: Insights From an Observational Study","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-12-30 11:13:25","doi":"10.21203/rs.3.rs-8170073/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"editorInvitedReview","content":"","date":"2026-01-15T20:31:05+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"234792824580226601066762131888830321932","date":"2026-01-06T22:36:36+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-12-26T09:18:24+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2025-11-28T09:35:23+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-11-27T14:52:06+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-11-27T14:50:32+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Pediatrics","date":"2025-11-21T05:58:27+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-pediatrics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bped","sideBox":"Learn more about [BMC Pediatrics](http://bmcpediatr.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bped/default.aspx","title":"BMC Pediatrics","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"62222401-fd91-458d-8c0c-d8f0e261d549","owner":[],"postedDate":"December 30th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2025-12-30T11:13:25+00:00","versionOfRecord":[],"versionCreatedAt":"2025-12-30 11:13:25","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8170073","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8170073","identity":"rs-8170073","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}