The incidence of vascular cognitive impairment (VCI) is increasing year by year,and early intervention and treatment for VCI can effectively reduce the occurrence of vascular dementia.The application of repetitive transcranial magnetic stimulation (rTMS) opens a new window for the treatment of VCI.This article reviews the efficacy,biological mechanism and safety of rTMS in the treatment of VCI.

Developmental coordination disorder (DCD) is a developmental disorder that mainly affects children′s motor coordination.The prevalence of DCD in childhood is very high, and it seriously affects the physical and mental health of school-age children.In China, this disease has not yet been fully recognized and understood.There is a lack of standardized and unified diagnostic criteria, and the standardization of relevant clinical assessment tools and the establishment of normative models are insufficient.In addition, the clinical practice and experience of most health professionals in dealing with DCD appear to be limited.Based on international clinical practice recommendations on the definition, diagnosis, assessment, intervention, and psychosocial aspects of DCD issued by the European Academy of Childhood Disability in 2019, the recommendations related to the diagnosis, evaluation and intervention of DCD in the guidelines were compiled and interpreted in the light of the current clinical practice and research in China.The objective of this study is to bring DCD to the attention of more domestic medical experts through the interpretation of this international guideline and to provide preliminary guidance on the clinical diagnosis, assessment, and intervention of DCD.

OBJECTIVE: To explore the hematological phenotype and genotype of hemoglobin Q-Thailand in Fujian area. METHODS: Genomic DNA was extracted from peripheral venous blood samples of patients. Suspected samples were screened by hematological parameters analysis and verified with DNA sequencing. RESULTS: In 35 patients suspected with Hb Q-Thailand, 20 were confirmed, which included one case compounded with heterozygous β mutation and one compounded with Hb New York. CONCLUSION Analysis of hematological phenotype and genotype of Hb Q-Thailand can faciliate genetic counseling for patients from Fujian area.
China ; Genotype ; Hemoglobins, Abnormal ; genetics ; Heterozygote ; Humans ; Mutation ; Phenotype

Objective:To evaluate the reliability and validity of the Chinese version of the Edinburgh visual gait score (EVGS-CN) for children with cerebral palsy.Methods:The EVGS-CN was established following international guidelines for translation and cross-cultural validation of health status questionnaires. Videos of 30 children with cerebral palsy were assessed independently by six raters (with different levels of experience in gait analysis) using the EVGS-CN. Inter- and intra- observer reliability were evaluated using intraclass correlation coefficients (ICCs). The correlation analysis and group comparison were used to test the technique′s criteria-related validity, convergent validity, and discriminant validity.Results:The ICC values of the 17 items in the EVGS-CN ranged from 0.20 to 0.87 for inter-observer reliability, and from 0.41 to 0.90 for intra-observer reliability. Most items showed good inter- and intra-observer reliability among experienced raters, but only a moderate level when used by inexperienced raters. The EVGS-CN results were strongly correlated with those of physician rating scale (PRS) ( r=0.77, P≤0.001) and observational gait scale (OGS) ( r=-0.85, P≤0.001), moderately correlated with the total gross motor function measure-D/E (GMFM-D/E) score ( r=-0.55, P≤0.01), and strongly correlated with 10MWT times ( r=-0.69, P≤0.001) and timed up and go (TUG) times ( r=0.60, P≤0.001). Moreover, significant differences in average EVGS score were found between different gross motor function classification system (GMFCS) levels and between affected limbs on different sides. Conclusion:The EVGS-CN demonstrates satisfactory reliability and validity in evaluating children with cerebral palsy when it is used by an experienced or inexperienced rater.

In February 2022, the German Society of Pediatric and Adolescent Medicine published the first Evidence-based Recommendations for the Treatment and Prevention of Non-specific Back Pain in Children and Adolescents, which provides clinical evidence and recommendations for the etiology, risk factors and diagnosis of back pain in children and adolescents, and the treatment and prevention suggestions on the non-specific back pain.Although the guideline for the diagnosis and treatment of non-specific low back pain have been launched in China, a specific description of back pain in children and adolescents is lacking.With regard to increasing incidence of low back pain in children and adolescents, and differences in term of the etiology, risk factors, diagnosis and treatment of back pain between children-adolescents and adults, this article aims to interpret the guidelines to provide references and guidance for the clinical diagnosis and treatment of back pain in children and adolescents.

Developmental coordination disorder (DCD) is a childhood-onset condition that primarily affects physical co-ordination.In China, DCD is not well recognized and is under-treated.Knowledge of the evaluation and intervention of DCD among physiotherapists (PT) is limited.In 2020, the Academy of Pediatric Physical Therapy of the American Physical Therapy Association published the Physical Therapy Management of Children with Developmental Coordination Disorder: An Evidence-Based Clinical Practice Guideline.From the perspective of PT, this review aims to make a comprehensive interpretation of the recommendations in the guideline regarding the physical examination and evaluation, physiotherapy planning and implementation, and family education of children at risk or diagnosed with DCD.This article aims to make DCD get more attention from domestic PT through the interpretation of the latest guidelines, and strengthen the knowledge of physiotherapy assessment and management in children with DCD to guide the clinical practice.

OBJECTIVE: To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling. METHODS: We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses. RESULTS: Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb. CONCLUSION Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.
Chromosomes, Human, Pair 4/genetics* ; Female ; Fetal Growth Retardation/genetics* ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Wolf-Hirschhorn Syndrome/genetics*

Neuromuscular disease (NMD) is a group of hereditary or acquired myopathy typically manifested as motor dysfunction. There is still no consensus in the standardized tools for evaluation of motor function. Among the tools widely used, Motor Function Measure can be used in all kinds of NMD, while North Star Ambulatory Assessment and Performance of the Upper Limb can be for Duchenne muscular dystrophy, and Hammersmith Functional Motor Scale, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and Upper Limb Module for spinal muscular atrophy.

OBJECTIVETo report on prenatal diagnosis of a fetus with Miller-Dieker syndrome (MDS) and explore its genotype - phenotype correlation.

METHODSChromosome karyotyping, bacterial artificial chromosome on beads (BACs-on-Beads, BoBs), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism microarray (SNP array) were applied in conjunction for the prenatal diagnosis of a fetus with abnormal ultrasound findings.

RESULTSA 17p13.3 microdeletion was detected with the BoBs assay, and the result was confirmed by FISH. With the SNP array, the deletion was mapped to chromosome 17, with its range determined to be 5.2 Mb. On high-resolution banding analysis and BoB assay, the deletion was not found in either parent.

CONCLUSIONThe combined use of BoBs, FISH and SNP array has enabled prenatal diagnosis of a fetus with MDS. Attention should be paid to microdeletions and microduplications which can be missed by conventional chromosomal karyotyping analysis.

Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; Classical Lissencephalies and Subcortical Band Heterotopias ; diagnosis ; genetics ; Female ; Genetic Association Studies ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis

Objective To analyze the molecular characterization and prevalence of beta-thalassemia in Fujian Province .Methods RDBwas applied to identify 17 point mutations of beta gene and 3 point mutations of alpha gene .Gap-PCRwas applied to identify 3 deletions of alpha gene , MLPA and DNA sequecing were applied to identify the rare mutational genotype of beta-thalassemia.Results 3515 cases (15.45％)ofβ-thalassemia were confirmed.15 genotypes were found in the studied subjects .βIVS-2-654(C→T)/βN, βCD41-42(-TCTT)/βN, βCD17(A→T)/βN, β-28(A→G)/βN, βCD27-28( +C)/βN, and βCD26(G→A)/βN were the mostcommon genotypes in Fujian Province , accounting for 41.76％, 30.50％, 12.46％, 5.46％, 2.93％and 1.82％respectively , It was found that the total frequency of them was 94.93％in our study.13 cases of deletional β-thalassemia were detected , including 6 cases of Southeast Asia subtype ( SEA-HPFH) , 6 cases of Chinese subtype Gγ(Aγδβ)0 and 1 case of 1.35kb deletion(NG-000007.3:g.69997-71353 del 1357) in one subject .13 cases of rareβ-thalassemia were detected , including Hb J-Bankok in 8 subjects and Hb New York in 5 subjects were diagnosed .Conclusions As a high-risk area forβ-thalassaemia, the detection of deletional β-thalassemia and rare β-thalassaemia subtypes should be screened in addition to the common β-thalassemia genes , so as to demonstrate the results of β-thalassemia gene detection in this region .Those screening results are useful for genetic counseling and can effectively reduce the birth of children with moderate to severe β-thalassaemia .