RESUMO
<p><b>BACKGROUND</b>Genetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental dyslexia. Here, we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese origin.</p><p><b>METHODS</b>We undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched controls. We isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms, rs2274305 and rs6456593, in each sample using SNaPshot single nucleotide extension. We compared the allele and genotype frequencies between the groups using the χ(2) test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic regression. We also predicted haplotypes and compared their frequencies between the two groups.</p><p><b>RESULTS</b>The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene, rs2274305 and rs6456593, between the two dyslexic and non-dyslexic groups were statistically meaningless (P > 0.05). The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless (P > 0.05).</p><p><b>CONCLUSION</b>The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese. However, methodological issues may have prevented the detection of positive associations.</p>
Assuntos
Criança , Feminino , Humanos , Masculino , Povo Asiático , Dislexia , Genética , Predisposição Genética para Doença , Genética , Genótipo , Haplótipos , Genética , Proteínas Associadas aos Microtúbulos , Genética , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , GenéticaRESUMO
<p><b>OBJECTIVE</b>To explore the model and the feasibility of newborn hearing and ocular disease simultaneous screening program and to study the birth prevalence of newborn hearing loss and newborn ocular diseases.</p><p><b>METHODS</b>The universal newborn hearing screening (UNHS) was performed using transient otoacoustic emission (TEOAE) in well baby nursery and by a two-stage TEOAE and auto auditory brainstem response (AABR) protocol in neonatal intensive care unit (NICU). The UNHS was simultaneous done with newborn ocular disease screening program. The examination technical method was following: the response to light, external inspection of the eyes and lids, pupil examination, red reflex examination, funduscope examination after pupil dilation for referral (for all newborn in NICU). The infants who were referred by two-stage hearing screening and/or had high-risk factors of hearing loss received following-up and routine audiological evaluation and personalized intervention from 6 months to 3 years of age. The cases had positive sign and (or) abnormal results of the ocular disease screening were referred for further examination by pediatric ophthalmologists.</p><p><b>RESULTS</b>A total of 16 800 children born in Jinan Maternal and Child Hospital from October 1, 2002 to April 30, 2005. Of these infants, 15 398 cases (91.7%) had access to the simultaneous screening program for hearing and ocular diseases. The incidence of congenital sensorineural hearing loss (SNHL) among infants who did UNHS was 0.312% (48/15 398) in bilateral and 0.227% (35/15 398) in unilateral; Of the 4 cases of congenital SNHL complicated with newborn ocular diseases: 1 profound SNHL (bilateral), auditory neuropathy with congenital cataract (bilateral), 1 mild SNHL (bilateral) with membrana papillaris perseverance (left) and 1 mild SNHL (bilateral) with retina vein dilatation (bilateral), 1 mild SNHL (right) with persistent hyaloid artery (bilateral). In all 15 398 newborns, 15 neonates with congenital cataract were detected (22 eyes, 0.10%). Twenty seven neonates with less than 1500 g birth weight admitted to NICU, retinopathy of prematurity was detected in 3 neonates (6 eyes).</p><p><b>CONCLUSION</b>Hearing loss and ocular diseases was not rare in neonatal and infancy. Newborn hearing and ocular disease simultaneous screening program was not only feasible but also effective in detecting hearing loss and (or) ocular disorders. Early intervention was important for the prevention or treatment of neonatal hearing loss and (or) ocular diseases, such as newborn hearing loss with congenital cataract, retinopathy of prematurity and so on.</p>
Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Oftalmopatias , Epidemiologia , Estudos de Viabilidade , Perda Auditiva , Epidemiologia , Testes Auditivos , Triagem Neonatal , Métodos , Testes VisuaisRESUMO
<p><b>OBJECTIVE</b>To study the self-consciousness of children with learning disabilities (LD) and to identify related factors.</p><p><b>METHODS</b>Five hundred and sixty pupils graded from 1 to 6 in an elementary school were investigated. According to the pupil rating scale revised screening for learning disabilities (PRS), combined Raven's test (CRT) and achievement of main courses, 35 of 560 pupils were diagnosed as LD children. Thirty-five children were selected from the average children and 35 from advanced children in academic achievement equally matched in class, gender, and age with LD children as control groups. The three groups were tested by Piers-Harris children's self-concept scale. Basic information of each subject was collected by self-made questionnaire.</p><p><b>RESULTS</b>Compared with the average and advanced children, LD children got significantly lower scores in self-concept scale. Based on logistic regression analysis, 3 factors were identified, including family income per month, single child and delivery model.</p><p><b>CONCLUSION</b>The results suggest that self-consciousness of children with LD is lower than that of normal children.</p>
Assuntos
Criança , Humanos , Extração Obstétrica , Renda , Deficiências da Aprendizagem , Diagnóstico , Forceps Obstétrico , Filho Único , Fatores de Risco , AutoimagemRESUMO
<p><b>OBJECTIVE</b>To investigate prevalence rate of learning disabilities (LD) in Chinese children, and to explore related risk factors, and to provide theoretical basis for preventing such disabilities.</p><p><b>METHODS</b>One thousand and one hundred fifty one children were randomly selected in primary schools. According to criteria set by ICD-10, 118 children diagnosed as LD were classified into the study group. Four hundred and ninety one children were classified into the normal control group. Five hundred and forty two children were classified into the excellent control group. The study instruments included PRS (The pupil rating scale revised screening for learning disabilities), Conners' children behavior check-list taken by parents and YG-WR character check-list.</p><p><b>RESULTS</b>The prevalence rate of LD in Chinese children was 10.3%. Significant differences were observed between LD and normally learning children, and between the LD group and the excellent group, in terms of scores of Conners' behavior check-list (P < 0.05). The study further showed that individual differences in character between the LD group and the control groups still existed even after controlling individual differences in age, IQ, and gender. Some possible causal explanations contributing to LD were improper teaching by parents, low educational level of the parents, and children's characteristics and social relationships.</p><p><b>CONCLUSION</b>These data underscore the fact that LD is a serious national public health problem in China. LD is resulted from a number of factors. Good studying and living environments should be created for LD children.</p>