P12 Neurobehavioural disorders in Duchenne muscular dystrophy

Ricotti, Valeria; Scoto, M.; Mandy, William; Entwistle, K.; Robb, Stephanie; Skuse, David; Muntoni, F.

doi:10.1016/s0960-8966(12)70020-2

Cited by 2 publications

(3 citation statements)

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“…[9][10][11][12][13][14] The incidence of cognitive impairment is higher with deletions in exon 45 to 52 affecting both Dp140 and Dp427 isoforms. 15,16 The disruption of the Dp140 and Dp71 isoform is associated with intellectual disability in patients with Duchenne muscular dystrophy, [17][18][19] which highlights the importance of these isoforms on cognition and brain function. 20 It is reported that the verbal IQ is typically more affected than the performance IQ, both in older and younger boys with Duchenne muscular dystrophy.…”

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confidence: 99%

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy

et al. 2015

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Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of < 70 was seen in 27%; learning disability in 44%, intellectual disability in 19%; attention-deficit/hyperactivity disorder in 32%; autism spectrum disorders in 15%; and anxiety in 27%. Mutations affecting Dp260 isoform and 5'untranslated region of Dp140 were observed in 60% with learning disability, 50% intellectual disability, 77% with autism spectrum disorders, and 94% with anxiety. No statistically significant correlation was noted between comorbidities and dystrophin isoforms; however, there is a trend of cumulative loss of dystrophin isoforms with declining full-scale IQ. Enhanced psychology testing to include both cognitive and neurobehavioral disorders is recommended for all individuals with Duchenne muscular dystrophy.

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Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy

et al. 2015

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“…Previous studies suggest that their cognitive profile is nonprogressive, does not correlate with the severity of muscle disease, and primarily involves verbal rather than nonverbal intelligence. [3][4][5][6] Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral comorbidity associated with DMD and has also been reported in boys with Becker muscular dystrophy. 11 The explanation for this remains uncertain as psychological distress caused by physical difficulty could also contribute to behavioral problems, although an association between ADHD and mutations predicted to affect the expression of Dp140 (mutations in exons 45-55) and Dp71 (mutations in exons 62 and 63) was reported.…”

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confidence: 99%

“…3,4 Disruption of the Dp140 and Dp71 isoforms is associated with intellectual disability in patients with DMD. [5][6][7] Mutations causing BMD allow production of partially functional dystrophin, resulting in a much more heterogeneous clinical phenotype, with variability in age of onset and rate of progression of muscle weakness. 8,9 Patients typically remain ambulatory at least until age 15 and commonly well into adult life.…”

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confidence: 99%