NEUROPSYCHOLOGICAL PROFILE OF AN ADOLESCENT WITH DUCHENNE MUSCULAR DYSTROPHY: A CASE STUDY

Abstract

Duchenne Muscular Dystrophy (DMD) is one of the most common diseases that leads to muscle wasting. It is a recessive and hereditary congenital disorder, affecting mostly males. It is caused by alterations in the expression of the Xp21 segment of the X chromosome, which is responsible for regulating the production of the dystrophin protein. Due to the association between the lack of dystrophin and cortical post-synaptic neural atrophy, DMD is associated with a high likelihood of cognitive impairment, especially in reasoning, executive functions, and academic performance. This study presents a case report detailing a neuropsychological assessment conducted on a 14-year-old boy with DMD. The main objective was to comprehend the underlying reasons for the patient’s low academic performance. The assessment included measures of reasoning, attention, language skills, executive functioning, memory, and academic performance. The findings are on par with international literature, demonstrating that there are neuropsychological impairments even in the absence of a deficit in IQ. Notably, this study identified that language and academic achievement may be significantly impacted, which had not been thoroughly explored in the scientific literature. Thus, it can be concluded that understanding the impacts of DMD beyond the physical symptoms could enhance support for affected individuals worldwide.