Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy / 中国当代儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the level of intelligence in children with Duchenne muscular dystrophy (DMD), and the relationship between the level of intelligence and gene mutations.</p><p><b>METHODS</b>One hundred and two children with DMD between January 2009 and March 2011 were enrolled. DMD gene detection was performed through the multiplex ligation-dependent probe amplification (MLPA) in 84 cases. The level and the structure of intelligence were evaluated by Chinese Wechsler Intelligence Scale for Children (C-WISC) in 50 children with DMD (≥6 years old; DMD group) and in 50 age-and gender-matched healthy children (control group).</p><p><b>RESULTS</b>The average intelligence quotient (IQ) was 84±21 in 102 children with DMD. Thirty patients (29.4%) had the full intelligence quotient (FIQ) less than 70. The FIQ, verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and the scores of 11 sub-tests of intelligence in the DMD group were significantly lower than those in the control group (P<0.01). The IQ in patients with gene mutations at exon 56-79 was the lowest (59.3±11.9), followed 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).</p><p><b>CONCLUSIONS</b>The FIQ, VIQ and PIQ in children with DMD are lower than those in healthy children. There is association between mental retardation and gene mutations.</p>