Abstract:Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in these conditions. We aimed to summarize the current knowledge on the use of psychopharmacological treatments for mental disorders in patients living with a neuromuscular disease. A scoping review was performed using the methodology of the Joanna Briggs Institute. Fo… Show more
“…Таким образом, учитывая ограниченность в целом подходов к коррекции когнитивных нарушений, важным моментом ведения пациентов с МД1 становится необходимость проведения психотерапевтической работы для повышения мотивации, работоспособности, а также улучшения социальной коммуникации. Стоит помнить, что такие эмоциональные нарушения, как депрессия и тревога, могут быть отчасти скомпенсированы с помощью психофармакотерапии [29,30], для определения показаний к которой в рутинной практике могут использоваться специализированные тесты.…”
Background. Myotonic dystrophy type 1 (DM1) is a hereditary slowly progressive multisystem disease with an autosomal dominant mode of inheritance, caused by the expansion of trinucleotide (CTG)n repeats in the 3’ untranslated region of the DMPK gene. Among the clinical manifestations of DM1, an important place is occupied by symptoms of damage to the central nervous system, in particular cognitive and emotional disorders.Aim. To evaluate the type of cognitive and emotional impairments in patients with different forms of DM1 and their impact on quality of life.Materials and methods. 60 patients with genetically confirmed DM1 were examined (average age 37.0 ± 12.4 years; 36 (60.0 %) of them were men). All patients underwent neuropsychological testing using the Montreal Cognitive RatingScale, Mini‑Mental State Examination, Addenbrooke’s III, Wechsler tests, pathfinding, symbolic and numeric modalities, Luria’s 10 Words, Frontal Dysfunction Battery; assessment of emotional disturbances using the Hospital Anxiety and Depression Rating Scale and the Apathy Scale; quality of life assessment – 36‑Item Short‑Form Medical Outcomes Study. Brain magnetic resonance imaging was performed in 53 patients to assess the severity of white matter lesions and gray matter atrophy.Results. The study included 8 (13.3 %) patients with congenital, 19 (31.7 %) – childhood, 33 (55 %) – adult forms of MD1. The group of patients with the congenital form had the most severe cognitive deficits, especially in tests of executive functions and visuospatial perception. Cognitive impairment was also characteristic of the adult form, but to a lesser extent. Compared to controls, patients with DM1 were significantly more likely to exhibit apathy (p = 0.002) rather than anxiety and depression. In DM1, damage to both the white and gray matter of the brain was established, and a connection between damage to the gray matter and depression (r = 0.296) and apathy (r = –0.291) was revealed. The quality of life is largely influenced by emotional disorders (anxiety, r = –0.577; depression, r = –0.650; apathy, r = –0.545).Conclusion. In patients with DM1, a typical pattern of cognitive impairment has not been identified; different domains of cognitive functions are affected. The greatest cognitive deficit is typical for the group of patients with the congenital form. A connection between damage to the gray matter of the brain and emotional disorders has been revealed.The presence of the latter reduces the quality of life of patients with DM1.
“…Таким образом, учитывая ограниченность в целом подходов к коррекции когнитивных нарушений, важным моментом ведения пациентов с МД1 становится необходимость проведения психотерапевтической работы для повышения мотивации, работоспособности, а также улучшения социальной коммуникации. Стоит помнить, что такие эмоциональные нарушения, как депрессия и тревога, могут быть отчасти скомпенсированы с помощью психофармакотерапии [29,30], для определения показаний к которой в рутинной практике могут использоваться специализированные тесты.…”
Background. Myotonic dystrophy type 1 (DM1) is a hereditary slowly progressive multisystem disease with an autosomal dominant mode of inheritance, caused by the expansion of trinucleotide (CTG)n repeats in the 3’ untranslated region of the DMPK gene. Among the clinical manifestations of DM1, an important place is occupied by symptoms of damage to the central nervous system, in particular cognitive and emotional disorders.Aim. To evaluate the type of cognitive and emotional impairments in patients with different forms of DM1 and their impact on quality of life.Materials and methods. 60 patients with genetically confirmed DM1 were examined (average age 37.0 ± 12.4 years; 36 (60.0 %) of them were men). All patients underwent neuropsychological testing using the Montreal Cognitive RatingScale, Mini‑Mental State Examination, Addenbrooke’s III, Wechsler tests, pathfinding, symbolic and numeric modalities, Luria’s 10 Words, Frontal Dysfunction Battery; assessment of emotional disturbances using the Hospital Anxiety and Depression Rating Scale and the Apathy Scale; quality of life assessment – 36‑Item Short‑Form Medical Outcomes Study. Brain magnetic resonance imaging was performed in 53 patients to assess the severity of white matter lesions and gray matter atrophy.Results. The study included 8 (13.3 %) patients with congenital, 19 (31.7 %) – childhood, 33 (55 %) – adult forms of MD1. The group of patients with the congenital form had the most severe cognitive deficits, especially in tests of executive functions and visuospatial perception. Cognitive impairment was also characteristic of the adult form, but to a lesser extent. Compared to controls, patients with DM1 were significantly more likely to exhibit apathy (p = 0.002) rather than anxiety and depression. In DM1, damage to both the white and gray matter of the brain was established, and a connection between damage to the gray matter and depression (r = 0.296) and apathy (r = –0.291) was revealed. The quality of life is largely influenced by emotional disorders (anxiety, r = –0.577; depression, r = –0.650; apathy, r = –0.545).Conclusion. In patients with DM1, a typical pattern of cognitive impairment has not been identified; different domains of cognitive functions are affected. The greatest cognitive deficit is typical for the group of patients with the congenital form. A connection between damage to the gray matter of the brain and emotional disorders has been revealed.The presence of the latter reduces the quality of life of patients with DM1.
“…In our study, mental health specialists, including psychiatrists and psychologists, were involved in managing nearly half of the cohort, especially in cases where psychoactive medications were required to treat major symptoms such as obsessive‐compulsive behaviour and hallucinations. However, the lack of literature on the safety of psychoactive drugs in the DMD population often limits their use in such contexts [34]. Amongst our patients, only two were treated with low‐dose oral haloperidol, whilst the others experienced antidepressive/anxiolytic treatments, with constant monitoring of routine blood tests and QT interval and no major side effects.…”
Background and purposeAdvances in multidisciplinary care are extending overall survival in Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort and identify novel challenges associated with the disease.MethodsNineteen individuals aged 25–48 years (median 34 years) with a confirmed diagnosis of out‐of‐frame DMD gene mutation were selected.ResultsAll patients were mechanically ventilated (5/19 via tracheostomy), with different patterns of cardiomyopathy. Swallowing and nutritional issues were frequent (median body mass index 18.95), with six cases requiring artificial enteral feeding (median age at start 29 years), as well as bone density alterations (11/19, 58%). Only 2/19 had been on long‐term prednisone therapy. Issues requiring at‐home/hospital assistance were respiratory infections (15/19, 79%), gastroenterological symptoms (9/19, 47%, including toxic megacolon and rectal perforation after repeated enemas), metabolic acidosis (2/19, 11%) and recurrent ischaemic strokes (1/19, 5%). From a social perspective, augmented‐alternative communication devices were necessary for 7/19 (37%), with most of the patients being assisted at home and 2/19 institutionalized. Eight/19 (42%) patients experienced psychiatric symptoms (median age at presentation 16 years) and 9/19 (47%) chronic pain (median age at onset 23 years), in both cases treated with psychoactive/analgesic drugs without major adverse events. The patients' subjective perception of physical health resulted in unfavourable scores, whilst the subjective assessment of mental health unexpectedly showed more positive values compared to other chronic neurological conditions.ConclusionsThe analysis of adults living with DMD reveals several new health‐related issues, such as the management of emergencies and safety of pharmacological treatments for psychiatric symptoms, chronic pain management, as well as an increasing caregivers burden.
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