title: Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.
abstract: The aim of the study was to evaluate whether children with merosin-positive or merosin-deficient congenital muscular dystrophy (CMD) show any cognitive impairment and whether this is related to brain abnormalities on magnetic resonance imaging (MRI). Twenty-two patients (age range: 5.8-15.3 years) were assessed by the Wechsler Intelligence Scales. Twelve were merosin-positive and ten merosin-deficient. One child had severe mental retardation and could not be tested. The full scale IQ in the remaining 21 ranged from 51 to 134, the verbal IQ ranged from 78 to 136 and the performance from 51 to 136. Of the twelve children with normal merosin one had a mild delay (IQ < 75) and two were borderline (IQ 75-95). Of the ten children with merosin-deficiency, one showed severe mental retardation and could not be tested, one showed a mild delay and two had borderline results. While the children with merosin deficiency with the typical diffuse white matter changes on MRI had normal scores, the children who in addition had cerebellar hypoplasia had lower performance IQ. The child with cortical dysplasia had severe mental retardation. Our results suggest that the spectrum of cognitive abilities in CMD is very wide even within genetically homogeneous conditions.
authors.affiliation: Department of Paediatrics, Hammersmith Campus, Imperial College, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: J
authors.initials: J
authors.lastname: Gruter-Andrew
authors.forename: J
authors.initials: J
authors.lastname: Philpot
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: S
authors.initials: S
authors.lastname: Counsell
authors.forename: S
authors.initials: S
authors.lastname: Henderson
authors.forename: A
authors.initials: A
authors.lastname: Jensen
authors.forename: I
authors.initials: I
authors.lastname: Naom
authors.forename: G
authors.initials: G
authors.lastname: Bydder
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D006801:Humans; D007360:Intelligence; D007797:Laminin / Q000032:analysis* / Q000172:deficiency; D008279:Magnetic Resonance Imaging; D009136:Muscular Dystrophies / Q000151:congenital / Q000473:pathology* / Q000523:psychology*; D014888:Wechsler Scales
chemical_list: D007797:Laminin