Analysis of SATB2 gene mutation in a child with Glass syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome.@*METHODS@#Clinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing.@*RESULTS@#The child has featured growth and mental retardation, delayed speech, cleft palate, crowding of teeth, and downslanting palpebral fissures. DNA sequencing revealed a de novo heterozygous missense mutation c.1166G>A (p.R389H) in exon 8 of the SATB2 gene in the child.@*CONCLUSION@#The heterozygous mutation c.1166G>A (p.R389H) of the SATB2 gene probably account for the Glass syndrome in the patient.

Reliability and validity of warning signs checklist for screening psychological, behavioral and developmental problems of children / 中华儿科杂志

Objective@#To evaluate the reliability and validity of warning signs checklist developed by the National Health and Family Planning Commission of the People′s Republic of China (NHFPC), so as to determine the screening effectiveness of warning signs on developmental problems of early childhood.@*Method@#Stratified random sampling method was used to assess the reliability and validity of checklist of warning sign and 2 110 children 0 to 6 years of age(1 513 low-risk subjects and 597 high-risk subjects) were recruited from 11 provinces of China. The reliability evaluation for the warning signs included the test-retest reliability and interrater reliability. With the use of Age and Stage Questionnaire (ASQ) and Gesell Development Diagnosis Scale (GESELL) as the criterion scales, criterion validity was assessed by determining the correlation and consistency between the screening results of warning signs and the criterion scales.@*Result@#In terms of the warning signs, the screening positive rates at different ages ranged from 10.8%(21/141) to 26.2%(51/137). The median (interquartile) testing time for each subject was 1(0.6) minute. Both the test-retest reliability and interrater reliability of warning signs reached 0.7 or above, indicating that the stability was good. In terms of validity assessment, there was remarkable consistency between ASQ and warning signs, with the Kappa value of 0.63. With the use of GESELL as criterion, it was determined that the sensitivity of warning signs in children with suspected developmental delay was 82.2%, and the specificity was 77.7%. The overall Youden index was 0.6.@*Conclusion@#The reliability and validity of warning signs checklist for screening early childhood developmental problems have met the basic requirements of psychological screening scales, with the characteristics of short testing time and easy operation. Thus, this warning signs checklist can be used for screening psychological and behavioral problems of early childhood, especially in community settings.

Neurological mechanism of cognitive impairment and pediatric care of children with Down's syndrome / 中华实用儿科临床杂志

Children with Down's syndrome (DS) are at the highest risk for intellectual disability.This article presentes information on the neuropathology attributed to cognition impairment in DS,also presented are the major medical concern and management strategies for an individual with DS from birth to young adulthood.

The characteristics of speech,phone and cognition development of children with mild hearing loss and the effect of early intervention / 中华物理医学与康复杂志

Objective To explore the characteristics of speech,phone and cognition development of infants and toddlers with mild hearing loss and to study the effect of early intervention.Methods Speech and cognition abilities of 59 children with mild hearing loss,aged 8 months to 2 years and 10 months old were assessed and 34 normal hearing children,aged 8 months to 2 years and 9 months old were compared.Eighteen children with hearing loss were fitted with hearing aids and received speech therapy for 6 months.The participants' speech and cognition development were evaluated with Gesell developmental scale.The phone test was adopted to assess the speech sound development in 59 children with mild hearing loss.Results Of the 59 children with mild hearing loss,37 were judged with normal speech development quotients(DQ),8 with abnormal speech DQ,14 suspect of abnormal speech DQ.The hearing loss in cases with abnormal speech DQ was more serious than that in cases with normal speech DQ(P＜0.05).The speech DQ and personal-social behavior DQ of children with mild hearing loss were significantly lower than normal children(P＜0.01).The speech DQ and personal-social DQ on Gesell developmental scales were significantly higher in 18 children received early intervention,compared with those who did not receive intervention (P＜0.01).Six cases with mild hearing loss demonstrated phone errors,but no abnormal manifestations in tone.After early intervention the phone of those with mild hearing loss improved significantly.No significant difference in gross motor,fine motor and adaptive ability was observed between the children with mild hearing loss and those with normal hearing(P＞0.05).Conclusion The speech ability of children with mild hearing loss is significantly lower than those with normal hearing.Some mild hearing loss children show phone errors.Mild hearing loss affect the adaptation and communication abilities of mild hearing loss children significantly.Early intervention can significantly improve the speech,phone,adaptation and communication abilities of children with mild hearing loss.