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06 October 2016, Volume 31 Issue 10 Previous Issue    Next Issue

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The path of diagnosis and treatment of recurrent respiratory tract infections WANG Xiao-chuan，SHEN Kun-ling 2016, 31(10): 721-725.  DOI: 10.7504/ek2016100601 Abstract ( )

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Application of child developmental screening and developmental surveillance in the child health care JIN Xing-ming 2016, 31(10): 726-729.  DOI: 10.7504/ek2016100602 Abstract ( )   Now in the child health care，developmental screening and developmental surveillance has been put in the clinics as a routine. In this article，we explain the conceptional terms which are related to the developmental screening and developmental surveillance. We also emphasize how to scientifically apply them and how to interpret the result of the developmental screening and developmental surveillance，and the important influence of the nurture environment on the child development. To the children of normal development，it is suggested to use the internet technics to collect the big data of children health. To the children of abnormal development，there is different management based on the severity degree and the pediatric resources.

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Appreciate sleep disorders in children with neurodevelopmental disorders WANG Guang-hai，DENG Yu-jiao，JIANG Yan-rui，JIANG Fan 2016, 31(10): 730-734.  DOI: 10.7504/ek2016100603 Abstract ( )   The clinical manifestations of neurodevelopmental disorders in children are varied， though co-occurring sleep disorders in the population is very common. The incidence， severity， course， treatment difficulty and recurrence rate are also significantly higher than those of typically developing children. In addition， sleep disorders result in more significant impairment in children with neurodevelopmental disorders in terms of cognition， emotion， behavior and social development， and even negatively affect the family sleep quality and quality of life. However， pediatric clinicians have been lacking knowledge of sleep disorders， as well as the capability of assessment and treatment. Therefore， begin with the etiology and risk factors of sleep disorders in children with neurodevelopmental disorders， the clinical symptoms and the methods of assessment and intervention are introduced to help pediatric clinicians to enhance the diagnosis and treatment of sleep disorders in the children with neurodevelopmental disorders， and improve the children’s daytime function， rehabilitation efficacy and family sleep quality and quality of life through promoting sleep.

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Application of child development surveillance and screening in the health care of children SHAO Jie 2016, 31(10): 735-739.  DOI: 10.7504/ek2016100604 Abstract ( )   Early identification of children with developmental delays/disorders is an integral function of the primary child health care system. Earlier identification creates an opportunity to provide the benefits of early diagnosis，intervention or treatment，promote child early development and reduce the incidence of disability. Developmental surveillance and screening are efficient ways to identify children with developmental problem. Developmental surveillance is a flexible，longitudinal，continuous，and cumulative process to identify children at risk of developmental delay. Developmental screening is the administration of a brief standardized tool that aids the identification of children at risk of a developmental delay or those who may need more comprehensive evaluation. Periodic standardized developmental screening may increase accuracy of early identification. It is an appropriate responsibility of all pediatric health care professionals to acquire skills in the developmental surveillance and screening technique，provide developmental surveillance and screening in the context of routine health care， and promote their application in practice.

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Frequently-used  methods  of    development  assessment in children YANG Yu-feng 2016, 31(10): 739-743.  DOI: 10.7504/ek2016100605 Abstract ( )   Development  assessment  is  a  measuring  technology  of children，and  also  a  method  of  psychology  change data  about  children  development  assessment. Children  development  assessment  is  an indispensable  monitor  tool  in  developing  early  childhood  education  and  pediatrics  clinical  diagnosis  and  treatment. The  article  summarised  many  viewpoints  including  the  aim，function  and  frequently-used  methods  of  development  assessment，characteristic  and  application  index  of  all  kinds  of  development  assessment，and  some  matters  needing  attention  about  how  to  choose  and  apply  children  development  assessment  in  clinical  diagnosis  and  treatment.

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Early identification and diagnosis of motor developmental delay LI Ming，WU Yuan 2016, 31(10): 743-747.  DOI: 10.7504/ek2016100606 Abstract ( )   Milestones are useful in the early identification and evaluation of motor delay. Considering the wide age range for the motor developmental milestones，it is not always easy to distinguish the abnormal from the normal. Generally speaking，Median Age may be helpful in primary judgement of normal development，while the Limited Age，which is 2SDs  from the mean，could be a warning sign of developmental delay. Some mild developmental delay can be transient. Standardized developmental screening scales and diagnostic scales can help assess the development in different domains. We can use motor developmental scales to evaluate children with simple motor delay. As the reliability and validity of developmental scales are usually not good enough，no one scale can replace the physician’s clinical judgement. A protocol of motor surveillance，screening and diagnosis should be followed in the practice of children health care. Muscle tone examination is very important in those children with motor delay. The increased muscle tone always suggest the disorder of central nervous system，and a cranial MRI is often recommended，while the decreased  muscle tone could be either central or peripheral. Elevated CK levels may indicate myopathy. Global developmental delay often suggest an impairment of cerebral disorder. As the underlying etiologies of motor delay are miscellaneous，it usually needs to be referred to a pediatric neurologist.

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Screening and differentiation of the development disorder in speech and language WAN Guo-bin 2016, 31(10): 748-751.  DOI: 10.7504/ek2016100607 Abstract ( )   Language disorders in childhood are the most common developmental disorder. More than half of the preschool language disorders，which lead to learning disabilities and are associated with psychological problem and abnormal social behavior，will continue until school age. Early detection of language disorders is beneficial to early interventio. Early detection of language disorders can be used for dynamic monitoring and screening tool，including language-specific screening scales and developmental screening scale. There are many reasons for language disorder， leading to different clinical manifestation. Clinicians need to diagnose through language evaluation and other medical examinations.

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Identification and diagnosis of the etiologies of children with developmental disorders MA Hong-wei，LI Lin 2016, 31(10): 751-756.  DOI: 10.7504/ek2016100608 Abstract ( )   Attention deficit hyperactivity disorder（ADHD），autism spectrum disorder （ASD） and mental retardation（MR） are the most common diseases in pediatric developmental clinic.The etiologies，which include biomedical factors and social psychological and cultural factors，are complex.Biomedical factors include genetic factors，etc.With the rapid development of genetic technology in recent years，more and more diseases of developmental disorders have been discovered. These technologies include karyotype analysis，screening for inherited metabolic diseases，first generation of gene sequencing technology，newly developed second generation sequencing technology，multiplex ligation-dependent probe amplification （MLPA） technology and microarray array-based Comparative Genomic Hybridization （aCGH）. The second generation of gene sequencing technology includes whole genome sequencing，whole exon sequencing （WES） and disease targeting sequence （DTS）. According to the clinical characteristics，corresponding techniques can be chosen by doctors to find the etiology.

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Early intervention and management of children with developmental delay and developmental disorders ZOU Xiao-bing，LI Yong-mei 2016, 31(10): 756-760.  DOI: 10.7504/ek2016100609 Abstract ( )   Early interventions are comprehensive services which provide preventive and treatment measures to 0～3 year-old children with developmental disorder（DD） and DD risk or significant developmental delays，to help them improve their abilities of cognition，emotion， behavior and social adaptation and support the adaptive capacity of the families. The basic principles of early intervention include early stage，emphasizing the importance of relationships within the family，individualized intervention，focusing on social adaptation，training a variety of comprehensive developmental abilities，cooperation of multi-discipline and multi-system. Early intervention management should adopt systematic management mode，involving pediatricians，family，special education institutions and social public welfare organizations，Council for special children. Early intervention services cover 6 aspects such as medical diagnosis，developmental assessment and nursing services，direct early intervention services of medical institutions，personalized family services，parental education，counseling and technical support. Early intervention methods for DD children include portage guide to early education，parenting skills training（PST） and other methods.

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Role of disks large-associated protein 1 in autism spectrum disorders：a pilot study YANG You，JIN Zhi-juan，WANG Jian，JIN Xing-ming 2016, 31(10): 761-764.  DOI: 10.7504/ek2016100610 Abstract ( )   Objective    To investigate the features of genetic variants of disks large-associated protein 1（DLGAP1） gene for autism spectrum disorders（ASD） in a case control study. Methods     Through Affymetrix cytoscan microarrays，297 single nucleotide polymorphisms（SNPs） covering the DLGAP1 gene were selected and analyzed in ASD patients（n＝24） and non-ASD patients（n＝43）. Results    Twenty statistically significant SNPs with different inheritance models（Allelic Association test，Genotypic Association test including default model，genotypic model，trend model，dominant model，recessive model and Logistic regression） were demonstrated in case-control study. Associations of 9 SNPs with ASDs were significant in all models and strong linkage disequilibriums were found between rs9956191 and rs4797127（D’＝0.93，LOD＝17.08，r2＝0.722）and between rs4797180 and rs8091193（D’＝1.0，LOD＝14.82，r2＝0.0.933）.Further haplotype analysis showed that rs9956191/rs4797127（T-G）was statistically and significantly related to ASDs（Permutation，P＝0.036）. The haplotype rs9956191/rs4797127（T-G）was significantly associated with the three items of social emotional field and three items of field for interest and stereotyped activities in DSM-V. No significant correlation of sensory perception with this haplotype was found. Conclusion    These findings support that the genetic variants of DLGAP1 gene may play a role in ASD.

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Pbp2b，ply and lytA PCR in diagnosis of pediatric Streptococcus pneumoniae meningitis ZHANG Er-qing*，KONG Fan-rong，LIU Gang 2016, 31(10): 765-769.  DOI: 10.7504/ek2016100611 Abstract ( )   Objective    To compare pbp2b，ply and lytA genes PCR with cerebral spinal fluid culture in diagnosis of Streptococcus pneumoniae meningitis and prediction of its susceptibility. Methods    A nested PCR targeting pbp2b and another two S.pneumoniae specific PCR targeting the genes of pneumolysin（ply） and autolysin（lytA） were developed for detection of S.pneumoniae in cerebral spinal fluid from bacterial meningitis patients. The three PCR results and culture were compared. The consistency of penicillin susceptibility PCR （using resistant and susceptible primers respectively），sequencing and culture-based phenotypic penicillin resistant results were compared. Results    Of the 161 specimens studied，there were 25 cases of S.pneumoniae infection confirmed by different methods（16 by pbp2b PCR，16 by lytA PCR，14 by ply PCR and 9 by cerebrospinal fluid culture）. Of the 16 pbp2b positive specimens，penicillin sensitive and resistant sequence types accounted for half，respectively. Four of the 16 pbp2b positive specimens had culture-based phenotypic penicillin-resistant result. Three of 4 were consistent with penicillin susceptibility PCR result. The results of susceptibility PCR targeting pbp2b was consistent with sequencing result. New sequence types were found but there were no new point mutations in these strains when compared with GenBank （http：//blast.ncbi.nlm.nih.gov/Blast.cgi）. Penicillin resistance in pneumococcal meningitis was 66.67%（6/9） by culture phenotype and 50%（8/16） by PCR and sequencing when culture was negative. Conclusion    Pbp2b can serve as a good target gene to detect S.pneumoniae and predict its penicillin susceptibility，which is especially important when culture is negative.

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Application of the communication and symbolic behavior scales developmental profile infant/toddler checklist HUANG Min-shi*，LIN Yan， HE Hui-jing，JIANG Wen，WEI Zhen，WANG Wei-shi，ZHANG Shi，WAN Guo-Bin 2016, 31(10): 770-773.  DOI: 10.7504/ek2016100612 Abstract ( )   Objective    To understand the different screening results of the CSBS-SP-ITC among the children who have autism spectrum disorder（ASD） or development delay（DD） or specific language impairment（SLI），and to guide the first-level broadband screening of ASD. Methods    Totally 86 of DD，175 of SLI and 142 of ASD who were at 12～24 months of age were selected to compare their results of CSBS-DP-ITC by retrospective analysis. Results    The language suspicious rate of the three groups had no statistical difference. In the 12～18-month age group，the social composite，symbolic composite and total score，and the suspicious rate of ASD were the highest（98.4%，94.5%，97.6%），those of DD group（76.6%，81.2%，85.9%） were lower than ASD，and SLI group was the the lowest（34.8%，52.3%，65.2%）. In the 12～18-month age group，the three groups’raw score of emotion and eye-gaze，use of gestures and use of objects had statistical difference（P＜0.05）. In the ＞18～24-month age group，all the modules had statistical difference（P＜0.05）. What’s more，the raw score of emotion and eye-gaze，communication，use of gestures and understanding of words was in the order of ASD＜DD＜SLI. Conclusion    Although ITC cannot accurately distinguish the types of diseases which has communication delay，it’s a good broadband first-level screening tool for ASD，and the efficiency of the ITC increases with age.

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Study on the relationship between neonatal respiratory distress syndrome and SP-B gene exon 7 in the Han nationality and the Mongol nationality in Inner Mongolia LIU Chun-li，MEI Hua，LIU Chun-zhi，ZHANG Ya-yu，ZHANG Yan-bo，HU Ya-nan 2016, 31(10): 774-777.  DOI: 10.7504/ek2016100613 Abstract ( )   Objective    To investigate the characteristics of SP-B gene exon 7 mutation of neonatal respiratory distress syndrome（NRDS） in the Han nationality and the Mongol nationality. Methods    The prospective study method was used. Eighty-five infants with NRDS（the NRDS group） and eighty-four infants without NRDS（the control group） were selected as the research objects in June 2013- June 2015 in Inner Mongolia Medical University-Affiliated Hospital. In these cases， there were 55 cases with RDS（the NRDS group） and 58 cases without RDS（the control group） in the han nationality； in the Mongol nationality there were 30 cases with RDS（the NRDS group） and 26 cases without RDS（the control group）. We extracted DNA and PCR gene analysis was used to detect candidate genes on exon 7 of SP-B. Results    Between the NRDS group and the control group of children， gender， gestational age， birth weight， birth way and whether to promote lung mature regularly had no significant correlation （P＞0.05）. Gene mutations were not found on exon 7 of SP-B in these two groups. Conclusion     There is no mutation on SP-B gene exon 7 in this study.There is no difference on SP-B gene exon 7 between the Mongolian and the Han nationality in the Inner Mongolia area.

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Clinical and genetic features of 11 children with methylmalonic acidemia combined with homocysteinemia YU Tao，HU Chun-hui，WANG Hua 2016, 31(10): 778-781.  DOI: 10.7504/ek2016100614 Abstract ( )   Objective    To analyze the clinical features， mutation types， treatment and outcomes of methylmalonic acidemia combined with homocysteinemia（MMA-HC） in children，in order to improve the clinical understanding of this disease. Methods    The clinical data，mutation types，treatment and outcomes of 11 children with MMA-HC were retrospectively analyzed to find the relationships of clinical phenotypes and genotypes with the prognosis of the early-onset（≤1 year） and late-onset （＞1 year） patients. Results    In the 9 early-onset children with more serious clinical manifestations，the major gene mutation type was c.609G＞A and C.658_660delAAG；the mutation types of 2 cases of late-onset children were c.482G＞A/c.609 G＞A and c.394C＞T/c.80A＞G compound heterozygous mutations. The children with C.609G＞A/c.658_660delAAG compound heterozygous mutation in early-onset patients had poorer clinical manifestations and prognosis. In contrast，the other early-onset children were relatively good. After treatment，the prognosis of late-onset children were usually good. Conclusion    Combined-type MMA children have various clinical manifestations and individual differences. Seizures，lethargy，feeding difficulty and no increase of weight are the common symptoms in early-onset children，while in late-onset patients there is occult onset，chronic mental disorders，mental retardation and weakness of two legs. Early treatment with hydroxycobalamin can significantly improve the clinical symptoms in the children，but the prognosis still depends on the clinical phenotype and genotype.

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Study on the clinical characteristics and risk factors of neuropsychiatric systemic lupus erythematosus in children GUAN Li-mei，SUN Gui-lian 2016, 31(10): 782-785.  DOI: 10.7504/ek2016100615 Abstract ( )   Objective    The aim of this study was to summarize the clinical features in children with neuropsychiatric systemic lupus erythematosus（NPSLE） and  to investigate  the related risk factors of  in  systemic lupus erythematosus（SLE） patients  with  NPSLE. Methods     The clinical data of 14 children with NPSLE were retrospectively analyzed. The indicators including the age， sex， clinical manifestations， laboratory tests were compared with 31 randomly selected SLE patients with  non-NPSLE manifestations by univariate and multivariate analysis. Results    The main clinical manifestations in children with NPSLE were headache（50%），lateral type motor disorder（50%），mental disorders（35.7%），epilepsy（35.7%），involuntary movement （14.29%），blurred vision（14.29%） etc. 13 patients had abnormalities in brain MRI. Univariate analysis showed that children with oral ulcers，blood lymphopenia，thrombocytopenia，elevated CRP，anticardiolipin antibodies positive，antineutrophil cytoplasmic antibody positive，anti-u1-RNP antibody positive，urine red blood cells increased，elevated serum K+ elevated，blood urea nitrogen，elevated serum creatinine were the risk factors with statistical significance.  Further non-selective multivariate regression analysis showed that only the anticardiolipin antibody positive， elevated CRP， elevated serum creatinine into the multiple regression equation， a positive correlation. Conclusion    Headache， movement disorders， mental disorders and seizures were the most common symptoms in children with NPSLE. The brain MRI is a sensitive indicator of checking NPSLE. Anticardiolipin antibody positive， elevated CRP and elevated serum creatinine were the most important risk factor for SLE children with    NPSLE.

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Two cases of mitochondrial DNA depletion syndromes related to MPV17 mutation and the literature review WANG Li-min，DONG Yi，ZHANG Hong-fei，et al 2016, 31(10): 786-789.  DOI: 10.7504/ek2016100616 Abstract ( )

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Clinical effect of oxcarbazepine monotherapy for children with partial seizures and study on the blood concentration LI Dan，SONG Ting-ting，HUANG Shao-ping，et al 2016, 31(10): 790-792.  DOI: 10.7504/ek2016100617 Abstract ( )

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Influencing factors of dietary treatment compliance in children with phenylalanine hydroxylase deficiency WU Wan-liang，LI Feng-xia，SHI Yan 2016, 31(10): 793-795.  DOI: 10.7504/ek2016100618 Abstract ( )

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Aripiprazole in the treatment of systemic lupus erythematosus complicated by chorea：A report of 1 case JIANG Ming-yu，ZHANG Guo-li，LIU Zhuo-qiong，et al 2016, 31(10): 796-797.  DOI: 10.7504/ek2016100619 Abstract ( )

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Williams syndrome：A report of 3 cases ZHANG Cheng-hui，ZHAO Yun-jing 2016, 31(10): 798-800.  DOI: 10.7504/ek2016100620 Abstract ( )