LANGUAGE AND READING DISORDERS IN DUCHENNE MUSCULAR DYSTROPHY: NEUROPSYCHOLOGICAL EVALUATION

As described in literature, 30% of patients affected by Duchenne muscular dystrophy, present a variable degrees of cognitive impairment. Many studies, performed also in our Instuitute, documented a significant discrepancy between Verbal Intelligence Quotient and Performance Intelligence Quotient, suggesting that language acquisition could be globally disordered. Impairment of cognitive abilities in some DMD patients may be related to deletion in the distal portion of the dystrophin gene, involving alteration in the Dp140 and Dp71 dystrophin cerebral isoforms. The aim of this study is to describe the cognitive profile (intelligent quotient, attention and memory) and language and reading ability of DMD children, through the Wechsler Intelligence Scales and specific tests of language and neuropsychological assessment. Moreover, to analyse the relationships existing between different abilities in different sensory modalities.Our study will be performed in a group of children affected by Duchenne Muscular Dystrophy and in a control group of patients affected by motor impairment not related to dystrophin deficiency (20 children affected by Spinal Muscular Atrophy and 20 children affected by Osteogenesis Imperfecta). The resulting neuropsychological profile in this group of Italian DMD children will clarify the role (or the absence of the role) of dystrophin in neurocognitive deficits and will allow the establishment of guideliness for neuropsychological evaluation and recommendations for management of learning disabilities and rehabilitation in this population.An early identification of the language and reading difficulties, would be important for an early treatment with the aim, to support DMD children in their learning course, avoiding possible psychological problems deriving from difficulties of social-school integration (frustration, isolation, depression).