| Abstract [eng] |
Introduction. Duchenne muscular dystrophy is a rare, progressive muscular disorder inherited in an X-linked recessive pattern, in which the synthesis of the protein dystrophin is impaired and it is therefore also known as dystrophinopathy. Motor symptoms in boys usually appear in the first year of life, followed by progressive cardiac involvement. In recent years, a growing body of research has shown that dystrophin is also important for brain development and function and has significant effects on cognitive function and language development. It has been observed that boys with Duchenne muscular dystrophy are often diagnosed with intellectual disabilities, verbal memory problems, learning and reading difficulties, and one of the earliest developmental disorders is language delay. A growing body of research confirms the link between loss of dystrophin isoforms and intellectual disabilities. There is evidence in the literature that the mean intelligence quotient in the population with Duchenne muscular dystrophy is one standard deviation lower than in the general population, that intellectual disability is present in one-third of patients, and that verbal intelligence is more impaired than non-verbal intelligence. These children often have difficulties with learning, verbal working memory, reading and expressive language. Autism spectrum disorders, attention deficit hyperactivity disorder and obsessive-compulsive disorder are four times more common in Duchenne muscular dystrophy patients than in the healthy population. Aim of study: The aim of the study was to analyse the cognitive functions of patients with Duchenne muscular dystrophy treated and monitored at the Centre for Rare Pediatric Neuromuscular Diseases of Vilnius University Hospital Santaros Klinikos, to review the scientific literature on the cognitive functions of patients with Duchenne muscular dystrophy, and to compare the data with the literature. Subjects and methods. The study included 18 patients aged 4 to 21 years with genetically confirmed Duchenne muscular dystrophy. Their cognitive function was analysed on the basis of their clinical diagnoses and the results of the Wechsler Intelligence Assessment and the DISC method (Diagnostic Inventory for Screening children). A review of the literature on the prevalence of cognitive impairment in Duchenne muscular dystrophy and its pathophysiology was performed. Results. 88,9 % (16/18) of patients were diagnosed with mixed specific developmental disorders in preschool age, 33 % (5/15) of boys were diagnosed with mental retardation and 53,3 % (8/15) with learning disabilities in school age. 16,7 % (3/18) were diagnosed with attention deficit hyperactivity disorder and 11,1 % (2/18) with autism spectrum disorder. 44,4 % of patients had delayed early motor development, starting to walk independently at an average age of 21,3 months, 61% (11/18) had a language development disorder, with an average speech onset age of 39,6 months (range 18–66 months). Conclusions. Our findings confirmed that boys with Duchenne muscular dystrophy often have cognitive impairment, early motor and language development disorders, autism spectrum disorders, attention and hyperactivity disorders, and it is important to detect and diagnose them in time for interventions to improve the quality of life of these children. |
