Clinical application of M-CHAT and CHAT-23 for autism screening / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To analyze and compare Modified Checklist for Autism in Toddlers (M-CHAT) and Checklist for Autism in Toddlers-23 (CHAT-23) in terms of clinical applicability, and to provide a basis for the understanding of early specific clinical manifestations of children with autism.</p><p><b>METHODS</b>A total of 350 children aged 18-36 months who visited the Department of Developmental Pediatrics of Shengjing Hospital of China Medical University were enrolled as subjects. Of the 350 children, 284 who had not been previously diagnosed with autism were screened according to the two checklists. Sixty-eight confirmed cases of autism (including two of the 284 screening subjects diagnosed with autism) were assigned to the autism group, and 278 of the 284 screening subjects (except six children diagnosed with autism, mental retardation or cerebral palsy) were assigned to the control group. The two groups were compared with respect to the positive rate for each item in the checklists. The efficacy of the M-CHAT and CHAT-23 assessment criteria was evaluated by comparative analysis.</p><p><b>RESULTS</b>The autism group showed the highest positive rate for Item 9. There were significant differences between the two groups in terms of the positive rates for all items except Item 16 (P<0.05). When the assessment criterion was that autism was confirmed if there were positive results for at least 3 of a total of 23 items, M-CHAT showed the lowest rate of missed diagnosis (0%); when the assessment criterion was that autism was confirmed if there were positive results for at least 6 of a total of 23 items, CHAT-23 showed the lowest rate of misdiagnosis (1.77%). The specificity of M-CHAT is lower than that of CHAT-23 (P<0.05). There was no significant difference in sensitivity between the two checklists (P>0.05).</p><p><b>CONCLUSIONS</b>CHAT-23 is more suitable than M-CHAT for clinical autism screening due to higher specificity, as well as having the advantages of low cost, easy completion,high efficiency and easy result judgment.</p>

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

<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>