Abstract:Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders, and patients often present with autism spectrum disorder (ASD). We herein report a case of DMD accompanied by ASD that was successfully treated with aripiprazole, an atypical antipsychotic that has been used for treating irritability in child and early adolescent patients with ASD. The patient was diagnosed as having DMD at 3 years of age. Although he developed severe psychotic symptoms including irritability, insomnia, hallucinat… Show more
“…Cognitive network dysfunction is well described in DMD patients from infancy, ranging from intellectual disabilities to impaired verbal and memory skills, attention‐deficit hyperactivity disorder, autism spectrum disorder and obsessive‐compulsive disorder [8, 9, 24–32]. It can be inferred from our study cohort that the cognitive and psychiatric profile may continue to have an impact on the overall health and care requirements of DMD patients in their adulthood.…”
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.
“…Cognitive network dysfunction is well described in DMD patients from infancy, ranging from intellectual disabilities to impaired verbal and memory skills, attention‐deficit hyperactivity disorder, autism spectrum disorder and obsessive‐compulsive disorder [8, 9, 24–32]. It can be inferred from our study cohort that the cognitive and psychiatric profile may continue to have an impact on the overall health and care requirements of DMD patients in their adulthood.…”
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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