Learning disabilities in neuromuscular disorders: a springboard for adult life.
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form). Starting from the Duchenne muscular dystrophy, which may be considered a kind of paradigm for the co-occurrence of learning disabilities in the contest of a progressive muscular involvement, the findings of neuropsychological (or cognitive) dysfunctions in several forms of neuromuscular diseases will be examined and reviewed.
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Guja
G
Astrea
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Roberta
R
Battini
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Sara
S
Lenzi
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Silvia
S
Frosini
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Silvia
S
Bonetti
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Elena
E
Moretti
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Silvia
S
Perazza
Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa.
Filippo M
FM
Santorelli
Departmet of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa.
Chiara
C
Pecini
D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D007859:Learning Disabilities / Q000209:etiology*; D009135:Muscular Diseases / Q000151:congenital; D009136:Muscular Dystrophies / Q000150:complications*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications; D020388:Muscular Dystrophy, Duchenne / Q000150:complications; D009223:Myotonic Dystrophy / Q000150:complications; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications
CM; CMD; DMD; SMA-LED; learning disasbility