Mental retardation and gene mutations in children with Duchenne muscular dystrophy

One hundred and two children with DMD between January 2009 and March 2011 were enrolled. DMD gene detection was carried out through the multiplex ligation-dependent probe amplification (MLPA) in 84 cases. The level and the framework of intelligence were evaluated by chinese Wechsler Intelligence range for children (C-WISC) in 50 children with DMD (≥6 years old; DMD group) and in 50 age-and gender-matched nutritious children (control group).

RESULTS: The average intelligence quotient (IQ) was 84±21 in 102 children with DMD. Thirty patients (29.4%) experienced the total intelligence quotient (FIQ) less than 70. The FIQ, verbal intelligence quotient (VIQ), overall performance intelligence quotient (PIQ) and the scores of 11 sub-tests of intelligence in the DMD group were considerably decrease than those in the manage group (P<0.01). The IQ in patients with gene mutations at exon 56-79 was the cheapest (59.3±11.9), adopted by in patients with gene mutations at exon 45-55 (88.6±1.9), at exon 1-29 (97.5±9.6) and at exon 30-44 (102.8±3.8) (P<0.01).

CONCLUSIONS: The FIQ, VIQ and PIQ in children with DMD are decrease than those in nutritious children. there’s association between psychological retardation and gene mutations.

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