Sensory dysfunction is a common clinical problem for children with cerebral palsy.Proprioception plays a key role in maintaining postural adjustment and balance coordination, so proprioceptive assessment is of great significance for further rehabilitation of children with cerebral palsy.At present, proprioception assessment is mainly used in adults such as stroke and joint injury, but there is still a lack of research in children, especially in children with cerebral palsy.Therefore, this paper aims to review the evaluation of proprioception of children with cerebral palsy at home and abroad.

β-Thalassemia is a single-gene disease caused by mutations in β-globin and has a distinct geographical characteristics. Current treatment for patients with moderate to severe thalassemia has mainly relied on long-term blood transfusion and/or hematopoietic stem cell transplantation. B cell lymphoma/leukemia 11A (BCL11A) as a transcriptional repressor plays a vital role in monitoring γ/β hemoglobin switching, maintaining the normal function of hematopoietic stem cells, and regulating erythrocyte differentiation and lymphocyte development. With the rapid progress in gene editing technology, the BCL11A as a therapeutic target for β-thalassemia has shown promising results. This article has systematically summarized the regulatory mechanism and therapeutic potential of the BCL11A, with an aim to provide new ideas for the treatment of β-thalassemia.

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.

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.

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*

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.

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.

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.

OBJECTIVE: To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area. METHODS: Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Single PCR and two-round nested PCR were utilized to detect HK αα among 507 patients with α3.7/αα and 2 patients for whom electrophoresis showed α3.7, -αSEA and normal α2 alleles. Reverse dot blot test was used for detecting non-deletional α-thalassemia and β-thalassemia variants. RESULTS: Among the 507 patients with α3.7/αα, HK αα was identified in 35 cases, which included 25 HK αα/αα, 5 HK αα/α3.7, 4 HK αα/αα with heterozygous CD41/42 (HBB: c.126_129delCTTT) variant, 1 HK αα/αα with IVS-II-654 (HBB: c.316_197C>T) heterozygous variant. One patient was confirmed to have α3.7/anti4.2 genotype. The two cases with α3.7, -αSEA and normal α2 alleles were confirmed to be HK αα/--SEA. The frequency of HK αα genotype in Fujian area was therefore 7.27% among patients with α3.7 and 0.36% in the general population. CONCLUSION A certain proportion of HK αα has been detected in Fujian area, which will enable more accurate diagnosis and genetic counseling.
Genotype ; Heterozygote ; Hong Kong ; Humans ; alpha-Thalassemia ; beta-Thalassemia

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