Psychological aspects in neuromuscular patients: case series

The management of patients with neuromuscular diseases requires a multidisciplinary approach that integrates medical care with targeted psychological support. Respiratory difficulties, often treated with non-invasive ventilation (NIV) are accompanied by mood disorders such as anxiety and depression, which can compromise treatment adherence and quality of life. In our Unit, we performed psychological assessment from the first visit, using the Beck Depression Inventory-II (BDI-II) scale to evaluate the patients, and initiate where necessary, psychological support, also via telemedicine. 

We present four representative clinical cases including Giovanni, with Bethlem myopathy who exhibited resistance to NIV linked to feelings of anger and frustration; Luisa, with Steinert’s disease who experienced relational rejection that undermined her self-esteem; Maria, also with Steinert’s disease who expressed anticipatory anxiety over the loss of autonomy; and Lorenzo, with Duchenne muscular dystrophy who faced social isolation and resistance to ventilation by finding confort in music. 

In all cases, psychological support led to reduced BDI scores and an improvement in treatment adherence. These results highlight the clinical efficacy of structured psychological integration within multidisciplinary teams. However, scientific literature still needs more controlled studies to confirm these results. We emphasize the importance of a holistic approach that equally takes into account the physical and psychological health of patients with neuromuscular diseases.

Introduction

The management of patients with chronic respiratory diseases, particularly those affected by neuromuscular disorders, requires a multidisciplinary approach to address both the physical and psychological aspects of the illness. Neuromuscular diseases often bring about a progressive loss of autonomy and a heightened dependency on medical devices, such as non-invasive ventilation (NIV), which can heighten the risk of emotional disorders.

Anxiety and depression are conditions frequently associated with chronic illnesses¹.Quality of life (QoL) and mood are impaired in many patients with muscle disorders. Psychological variables appear to contribute to both QoL and mood, suggesting that psychological interventions could improve these outcomes. However, research in this area is sparse².

Graham, and colleagues highlighted how psychological factors influence quality of life and mood in patients with neuromuscular diseases, emphasizing the importance of targeted psychological interventions³. A study evaluating the psychosocial attitude of young boys with Duchenne muscular dystrophy showed that these patients do not have a significant increase in internalizing (e.g., anxiety, depression) or externalizing problems when compared to age-matched patients, except for higher obsessive-compulsive tendencies⁴. In a study on patients with type 1 myotonic dystrophy, signs of clinical depression were identified in 32% of patients. The depressive condition was mild to moderate and comparable to ratings in other neuromuscular diseases⁵.

Graham and colleagues⁶ identified psychosocial factors as the best predictors of QoL in patients with these conditions. Walklet and colleagues⁷ pointed out that there is still insufficient evidence to definitively support the effectiveness of psychosocial interventions in improving well-being and QoL in patients with neuromuscular diseases.

Some studies highlight that caring for a person with DMD may be associated with a significant caregiving burden and impairment in health-related quality of life (HRQL)⁸

The available literature presents conflicting evidence on the effectiveness of psychosocial interventions in neuromuscular disorders, with some studies suggesting short-term benefits in terms of quality of life and well-being, others highlighting the lack of strong evidence due to methodological limitations such as small sample sizes, lack of active control groups, or short follow-up durations. Further high-quality, controlled clinical trials are therefore needed to clarify the real usefulness of such interventions⁷.

In response to this need, the Unit of Respiratory Pathophysiology of the Monaldi Hospital has implemented a multidisciplinary model for managing neuromuscular diseases involving pulmonologists, physiotherapists, and a psychologist with the aim of comprehensively addressing the physical and psychological complexities faced by these patients. From the first visit, patients are welcomed by the multidisciplinary team, beginning with an interview with the department psychologist. This initial meeting serves to identify any psychological problems that may interfere with the management of respiratory diseases. In addition, a socio-demographic and relational form is filled out to gather information on the patient’s social background, their support network and interpersonal relationships, which play a crucial role in emotional stability and quality of life. A key aspect of the psychological assessment is the administration of the Beck Depression Inventory (BDI), which helps identify depressive symptoms that are often prevalent in patients with neuromuscular and chronic respiratory diseases.

The systematic use of the Beck Depression Inventory-II (BDI-II) constitutes a clinically valid tool for the early identification of individuals at risk for depression, allowing the timely initiation of targeted psychological interventions. After the initial clinical interview and analysis of the scores obtained on the BDI-II, the psychologist can assess the possible need for continued psychological support. The BDI-II consists of 21 items, each assessing a symptom or attitude typically associated with depressive disorders (e.g., depressed mood, guilt, fatigue). Items are rated on a 4-point Likert scale (from 0 to 3), reflecting the intensity of the symptom over the previous 14 days.

The total score ranges from 0 to 63 and allows for classification of symptom severity according to the following thresholds: 0–13: minimal or no depression; 14–19: mild depression; 20–28: moderate depression; 29–63: severe depression.

This scale, validated in numerous clinical and cultural contexts, is among the most widely used instruments for the assessment of depressive symptoms in both clinical practice and research settings⁹.

We considered a cut-off score of 14.5, which is frequently used to identify clinically significant depression in patients with neuro-muscular diseases such as PSP and PD¹⁰.

Periodic sessions aim to address emotional and psychological issues related to the illness, providing coping strategies and improving the management of anxiety and depression. The model also provides dedicated support for caregivers, who play a central role in the patient’s daily life and often bear considerable emotional and physical burdens. Through specific interviews, caregivers receive guidance to cope with the challenges associated with patient care, focusing on their emotional well-being and resilience. An innovative component of this approach is the integration of telemedicine for both psychological and medical support, which has proven to be an effective tool in ensuring continuity of care.

Telemedicine, accessible through the Citizen Portal, serves as a key resource for providing psychological support to neuromuscular patients. Following an initial in-person consultation with a psychologist, aimed at assessing the patient’s emotional and relational state, a therapeutic pathway may be initiated. If agreed upon, treatment continues online with weekly or bi-weekly sessions lasting 50 minutes, ensuring continuity of care tailored to the patient’s needs. This approach offers several advantages, starting with the elimination of logistical barriers related to reduced mobility or geographic distance. Conducting sessions from home allows patients to engage in therapy in a familiar environment, reducing anxiety and fostering greater openness to the psychological process. Moreover, the online format facilitates regular and continuous monitoring of emotional well-being, enabling timely intervention in cases of significant psychological changes or emerging needs. Telemedicine also provides crucial support for caregivers, who are often directly involved in the daily management of the patient. Through this system, caregivers can access support and counseling without disrupting their routines, helping to reduce emotional strain and enhance their overall well-being. The combination of an initial in-person consultation followed by a structured online pathway represents an innovative model that integrates personalized care with the practicality of technology. Telemedicine not only improves adherence to psychological treatment but also makes support more accessible and flexible, ensuring therapeutic continuity and ultimately enhancing the overall well-being of both the patient and their support network.

We report some examples of how this type of approach can be of great help in the treatment of patients with neuromuscular diseases. The clinical characteristics of the patients are shown in Table I. The names used in the examples are fictitious.

Case 1: Living between anger and acceptance – The Story of Giovanni

Giovanni is a 41-year-old man with Bethlem Myopathy, a disease that has confined him to a wheelchair since a young age. He lives with his elderly mother and a caregiver, and his daily life is marked by a series of physical and emotional challenges having profoundly affected his psychological well-being. Giovanni exhibits a strong sense of anger towards life, particularly due to his inability to find a job despite having applied for numerous positions. “It’s as if I were invisible in the job market”, he says. Each negative experience reinforces his belief that his condition is an insurmountable barrier, leading him to a sense of exclusion that exacerbates his dissatisfaction. At the time of evaluation, diurnal functional assessment showed a forced vital capacity (FVC) of 1030 mL (30%), Forced Expiratory Volume in 1 second (FEV1) of 750 mL (27%), and Peak Expiratory Flow, (PEF) of 1170 (27%). Blood gas analysis documented compensated respiratory acidosis with pH 7.38, pCO₂ 47 mmHg, pO₂ 66 mmHg, and HCO₂ 29 mmol/L. Nocturnal oximetric monitoring was carried out which revealed the presence of phasic and tonic desaturations along with an increase in CO₂ upon awakening, reaching 56 mmHg and leading to respiratory acidosis. Cardiorespiratory monitoring confirmed nocturnal hypoventilation. Due to respiratory functional decline associated with nocturnal desaturation and hypercapnia, the patient required treatment with non invasive ventilation (NIV). At the beginning, Giovanni showed strong resistance to NIV, perceiving it as a symbol of his progressive loss of autonomy. The baseline BDI score was 29. This resistance was addressed through a psychological pathway aimed at exploring his fears related to the worsening of his condition. During the first in-person session, a weekly psychological program was established. During the sessions, he exhibited various forms of resistance interpreted as defense mechanisms to maintain a sense of control over his autonomy. By understanding these defenses, the therapeutic process helped Giovanni develop awareness of his unconscious protective strategies, allowing for a gradual reduction in the rigidity of these mechanisms. Giovanni was encouraged to observe and reflect on his emotions and reactions, especially those related to frustration and feelings of abandonment.

During the sessions, feelings of dependency and ambivalence that Giovanni projected onto the therapeutic relationship were explored using transference dynamics as a tool to understand his family relationships. A significant part of the therapeutic process was dedicated to analyzing the conflict between his desire to maintain independence and his need to accept help. This allowed Giovanni to work through his feelings of vulnerability in a more adaptive way leading him to accept NIV as support rather than a treatment.

The choice to conduct the sessions through telemedicine allowed Giovanni to engage in therapeutic work from a familiar environment, facilitating a reduction in resistance and encouraging a gradual opening to the therapeutic process. After six months, the BDI score was 21. Over time, Giovanni was able to improve his adherence to NIV as confirmed by clinical parameters (including blood gas analysis) that showed stabilization of his respiratory condition. “I didn’t think accepting this help could make me feel so different” Giovanni admitted during a follow-up pneumology visit, displaying a new awareness and a greater willingness to embrace support tools to improve his quality of life.

Case 2: Virtual Connection, Real Barriers – Luisa and the Search for Love Beyond Disability

Luisa, 30, is a high school graduate who lives with her parents and a younger sister. She describes her life as active and full of meaningful social relationships. Despite having Steinert’s disease since the age of twelve, she maintains a circle of friends and pursues various interests that keep her engaged and satisfied. “I love going out, reading, and talking with my friends; they give me energy and make me feel like I can still enjoy life” she says, with a smile that conceals a deep internal conflict. During her last periodic visit, diurnal functional assessment showed FVC 1470 mL (44%), FEV1 1410 mL (44%), and PEF 1470 (42%). Blood gas analysis showed pH 7.40, pCO₂ 48 mmHg, pO₂ 69 mmHg, and HCO₂ 28 mmol/L. She started nocturnal NIV due to mild diurnal hypercapnia and nocturnal hypoventilation. A few years ago, Luisa began talking online with a man she met through social media. Their connection developed quickly: they would converse for hours, discovering shared interests and common views. “It was something that didn’t happen often, feeling so understood. We had a mental connection that went beyond expectations” she confides, highlighting how this relationship had given her hope for a genuine and deep bond. However, despite their affinity, the man could not see past her disability. Luisa explains, “He seemed stuck on the idea of my illness. He said he couldn’t imagine having a complete relationship with me, that my condition was a barrier for him”. This rejection left Luisa with a strong sense of incompleteness, making her feel as though her disability was the only visible aspect of her. “I felt reduced to my wheelchair, as if nothing else about me mattered anymore. It was painful because it made me doubt my worth as a woman and the possibility of being loved for who I am”.

This psychological condition also affected her respiratory function, and due to further lung function impairment, an increase in the hours of NIV was indicated even during the day. For this reason, Luisa was addressed to psychological counseling. The BDI score was 18, indicating a borderline clinical depression. The intervention delved into the feelings of rejection that Luisa had experienced in relational contexts helping her to recognize the defense mechanisms she had developed to protect herself from disappointment. The goal of the psychologist’s work was to strengthen her self-esteem and improve emotional management in interpersonal relationships. During the sessions, Luisa was encouraged to express and reflect on emotions related to rejection and the difficulty of accepting her own vulnerability. Another key aspect of the psychological intervention concerned the integration of Luisa’s body image and identity, supporting a positive reworking of her self-concept not limited by her disability. After six months of psychotherapy, the BDI score was 8.

Case 3: Maria, anticipatory anxiety and precarious autonomy

Maria, a 38-year-old woman with a diploma as a kindergarten teacher, lives alone despite the progression of Steinert’s Myotonic Dystrophy. Although she lost both of her adoptive parents with whom she had a strong bond, she has maintained close relationships with some cousins, who now represent her primary emotional and practical support. Maria is still able to maintain a certain level of autonomy, though the disease’s progression makes it increasingly difficult to independently manage daily activities. This brings with it a series of worries and fears for the future that manifest as “anticipatory anxiety”. In interviews, Maria expresses fear of a future in which her independence will inevitably be compromised. “Just the thought of losing what I can do on my own terrifies me” she says, reflecting the distressing nature of her anxiety. The idea of being completely dependent on others despite the strong affection she receives from her cousins, is a significant concern for her. “I wonder how long I can rely on them without becoming a burden” she confides, revealing her fear of being perceived as a burden by those close to her exacerbated by the absence of her parents. Maria was addressed to a psychological consultation following a pulmonology check-up. The BDI score was 22, indicating moderate depression. At this time, her diurnal functional assessment showed FVC 2788 mL (63%), FEV1 2627 mL (62%). Blood gas analysis showed pH 7.37, pCO₂ 51 mmHg, pO₂ 72 mmHg, and HCO₂ 29 mmol/L.

She started NIV due to diurnal hypercapnia and sleep apnea syndrome. The need for non-invasive mechanical ventilation therapy had shocked her, and she was deeply concerned about the progression of the disease. The patient expressed a desire to address her anticipatory anxiety and growing fear of becoming dependent on her only family support. The in-person sessions, organized on a weekly basis, focused on recognizing and interpreting psychological defenses, such as minimizing anxiety and avoiding painful emotions. The primary goal was to facilitate the processing of trauma related to the early loss of her parents and to address her fear of becoming a burden to her loved ones, particularly her cousins. Through the analysis of the conflicts between dependency and autonomy, Maria developed a greater awareness of her emotional experiences and a more adaptive capacity to accept support, thus increasing her sense of security and reducing anxiety related to potential future dependency. After six months of psychological support, the BDI score reduced to 16, indicating of mild depression.

Case 4: Lorenzo and the role of music and family in managing Duchenne Muscular Dystrophy

Lorenzo is a 40-year-old man with Duchenne muscular dystrophy. He lives with his mother, who provides constant care to help him manage the daily challenges of the disease, including the use of mechanical ventilation 24 hours a day. Lorenzo has also maintained a strong emotional bond with his two brothers, who are fundamental reference points for him, providing emotional support. However, his social world is limited to his family; he has no friends outside this context and rarely interacts with outsiders, living in an almost complete state of isolation. When Lorenzo was a child, his father left the family, unable to cope with the emotional and practical burden of his son’s illness. This separation left a deep wound in Lorenzo, who experienced a sense of abandonment and rejection that still affects his relationships today. Despite his suffering, Lorenzo has found refuge in music as an expression of his inner world. After his physiotherapy sessions, he devotes himself to this passion, in particular to listening to Italian music, which gives him moments of serenity and escape from physical reality. “Listening to music makes me feel alive”, he reveals, noting how music has become a valuable tool for him to explore his emotions and find comfort. During online interviews, Lorenzo expressed great gratitude for the support he receives from his mother and brothers but also a deep sadness for the lack of friendships outside the family. During his last clinical visit, the pulmonologist noted the need for increased use of mechanical ventilation, extending NIV to daytime hours. Due to the patient’s resistance, the medical doctor referred him to a psychological consultation. The BDI score was 31, indicating severe depression. During psychological sessions, Lorenzo showed emotional resistance to the necessary ventilator support, revealing feelings of isolation and increased dependency on his mother and siblings. In this context, music has used as an expressive tool to facilitate emotional processing by offering a safe means to explore and manage complex experiences. During the sessions, the function of mechanical ventilation as a symbol of vulnerability and dependency was examined and explored, thus allowing Lorenzo to gradually accept mechanical support. The use of music facilitated an indirect processing of his experiences, improving emotional integration and promoting greater acceptance of his condition. After eight months of psychological support, the BDI score decreased to 18, indicating borderline clinical depression.

Reflections on these cases

The cases described stimulate a reflection on the profound psychological aspects that characterize the experience of people with chronic disabilities, highlighting the emotional and cognitive challenges they face in their daily lives. Each story, while unique, highlights how disability is not limited to physical aspects alone but has a significant impact on identity, relationships, and psychological well-being.

The psychological aspects in Giovanni’s case are strongly characterized by conflicts related to personal identity, acceptance of disability, and managing of social rejection. Clinical experience shows that people with chronic disabilities, especially those with progressive conditions often suffer from acquired helplessness, a phenomenon in which the perception of having little control over life generates feelings of frustration and anger. Another critical aspect is the refusal of NIV, which can be interpreted in the literature as a manifestation of cognitive dissonance¹¹, where the desire for independence conflicts with the needs to accept medical support. Moreover, in Giovanni’s case, social isolation, common among patients with neuromuscular conditions, represents a significant issue. According to Livneh and Antonak¹², the lack of a sense of belonging and social utility can exacerbate feelings of exclusion and worthlessness, creating a vicious cycle of emotional isolation that negatively impacts psychological well-being. Furthermore, patients with chronic neuromuscular diseases who require NIV may experience psychological deterioration that, in turn, can aggravate their symptoms, disease course, and adherence to NIV¹³.

Luisa’s story reflects the complex psychological conflicts often faced by people with chronic disabilities, particularly in terms of romantic relationships and the integration of their identity, in this case, female. Being rejected in a romantic relationship can act as a narcissistic wound undermining self-esteem and the perception of personal value. When Luisa feels “reduced to her wheelchair”, it becomes evident that her disability is a limiting factor that affects her self-image, making her doubt her desirability and worth as a woman. This phenomenon is common among women with physical disabilities, whose self-perception is often fragmented due to social standards that associate femininity and desirability with complete physical autonomy. The rejection she experiences, based solely on her physical condition exacerbates the cognitive dissonance between the desire to be loved for who she is, and the reality of a social world that often perceives disability as a barrier. For Luisa, this dissonance manifests itself as a fear that others will only see her illness, a fear that amplifies her suffering and hinders the full integration of her identity. Consequently, therapy focuses on enhancing self-esteem and processing rejection, aiming to overcome perceived limitations and strengthen her sense of personal and feminine value.

In Maria’s case, psychological reflections primarily concern anticipatory anxiety and the fear of losing autonomy, common phenomena among individuals with chronic and progressive diseases. Anticipatory anxiety is defined as the persistent fear of unavoidable future events and for Maria, manifests itself as concern for the worsening of physical limitations. Her family situation, having lost both adoptive parents and living alone, amplifies this perception of vulnerability.

Literature suggests that the loss of stable family reference points can intensify feelings of insecurity and the fear of becoming a burden to loved one¹⁴. A further relevant aspect is acquired helplessness, a psychological condition described by Seligman¹⁵, in which patients perceive their illness as an insurmountable obstacle, reducing their ability to take independent initiatives.

Lorenzo’s case highlights some common psychological aspects among people with chronic disabilities. Dependence on continuous mechanical ventilation represents both a life support and a symbol of limitation, which can lead to a perception of isolation and loss of autonomy. The constant need for ventilation may intensify feelings of vulnerability and dependence, limiting the perception of oneself as an autonomous individual and increasing the need for psychological support. The absence of external friendships and a strong bond with his mother and siblings restrict Lorenzo’s social horizon, leading him to seek refuge in music as a means of managing his emotional world. Music, as a therapeutic tool, has proven effective in enhancing psychological well-being and emotional processing, creating a safe environment for exploring and managing feelings related to his physical condition. The abandonment of the father, which Lorenzo experiences as rejection, has contributed to a sense of vulnerability in his self-esteem and relational abilities.

Discussion and conclusions

Over the course of one year, thirty patients with muscular dystrophies were managed according to the operative model described above. Of these, twelve were referred to individual online psychological sessions, one began couple therapy and one participated in a family psychotherapy program. The remaining sixteen patients are re-evaluated every three months during follow-up visits, with the aim of monitoring their psychological state through clinical interviews and the administration of psychological tests.

The analysis of the clinical cases here reported demonstrates that the integration of psychological support within the multidisciplinary care model for patients with neuromuscular diseases represents a key element in improving treatment adherence, promoting resilience, and supporting overall quality of life. Through the use of psychodynamic tools, we have observed how psychological intervention can have a significantly impact on the management of anticipatory anxiety, on the strengthening of self-esteem, and on the processing of social rejection, fostering better adaptation to the disease. Furthermore, these data highlight the importance of early psychological assessment and the need for personalized interventions not only for the patients but also for their support system. In case of significant psychological distress (anxiety, burnout, feelings of helplessness or isolation), a targeted psychological care path is proposed with individual or couple/family sessions, which may include telemedicine.

Despite the efficacy observed in our clinical experience, the scientific literature still highlights a lack of systematic and controlled studies that rigorously demonstrate the impact of psychological interventions on this population. Although there is a strong correlation between mental and physical conditions, which can turn into a vicious negative circle, psychological aspects, such as depressive symptoms are often underestimated in neuromuscular patients¹⁶. Therefore, future research should focus on longitudinal and controlled studies in order to further evaluate the effectiveness of various psychological intervention techniques. A review of the literature indicates that traditional cognitive-behavioral therapy (CBT) may be useful in addressing emotional distress in individuals with neuromuscular diseases². Evaluations of Acceptance and Commitment Therapy (ACT) interventions in chronic diseases, including neurological disorders, have shown positive results in terms of quality of life and mood measures¹⁷. Further studies on psychodynamic approaches could provide evidence supporting the systematic integration of psychologists into multidisciplinary teams treating neuromuscular diseases.

In conclusion, the cases here reported confirm the value of the psychologist’s role in clinical practice, and highlight its importance within the medical care of patients with neuromuscular diseases. However, in order for such interventions to be implemented in a structured and evidence-based manner, it is essential to invest in further studies to scientifically validate their effectiveness. Only through more in-depth research will it be possible to develop specific guidelines and increasingly effective intervention models, ensuring tangible improvements in patients’ quality of life and psychological well-being.

In summary, the integrated intervention model here described which includes psychodynamic tools such as interpretation, exploration of transference, and self-esteem reinforcement, demonstrates how psychological support is not only complementary to medical care but also essential in fostering resilience in patients with neuromuscular diseases. The use of specific techniques has clearly shown how psychodynamic theory can be applied in a personalized way to support each patient while contributing to a greater understanding of the role of psychologist within a multidisciplinary team.

Finally, this model highlights the need for a holistic patient approach in managing chronic neuromuscular diseases, emphasizing the close interconnection between psychological and physical health. Future research and clinical practice should continue to explore innovative strategies to integrate psychological support into medical care, further improving clinical outcomes and emotional resilience of patients.

Conflict of interest statement

The Authors declare no conflict of interest.

Funding

None.

Author contribution

Conceptualization: CC; Data collection: RM, AM. Writing orifinal draft: CC,RM. Review and editing: AA, GF.

Ethical consideration

No personal identifiable information is disclosed without explicit permission.

History

Received: March 24, 2025

Accepted: June 4, 2025

Figures and tables

Table I. Clinical Characteristics of the patients.

Patient	Age	Disease	Respiratory Support	BDI Score	Reason for Request	Psychological Intervention	Outcome	BDI Score
Giovanni	41	Bethlem Myopathy	NIV	29 severe depression	Anger management, difficulty finding a job	Weekly in-person sessions	Increased adherence to NIV, reduced frustration	21 Moderate depression
Maria	38	Steinert Myotonic Dystrophy	NIV	22 moderate depression	Anticipatory anxiety about disease progression	Weekly online sessions	Reduced anticipatory anxiety, improved relationship with cousins	16 Mild depression
Luisa	30	Steinert Myotonic Dystrophy	Nocturnal NIV	18 mild depression	Low self-esteem and relational difficulties	Weekly in-person sessions	Greater self-awareness and improved relationships	8 Normal profile
Lorenzo	40	Duchenne Dystrophy	24-hour ventilation	31 severe depression	Social isolation and difficulty accepting ventilation	In-person sessions and phone support	Reduced sense of isolation, improved psychological well-being	18 mild depression