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06 January 2023, Volume 38 Issue 1 Previous Issue   

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Chinese expert consensus on clinical rehabilitation practice in childhood dystonia The Subspecialty Group of Rehabilitation, the Society of Pediatrics, Chinese Medical Association 2023, 38(1): 1-15.  DOI: 10.19538/j.ek2023010601 Abstract ( )   Dystonia is one of the most common movement disorders，its etiology and clinical manifestations are highly heterogeneous. Effective treatment and management of dystonia can better promote the prognosis and the quality of life of the patients. But so far，there is still great deficiency in the understanding of childhood dystonia in China，and the same with its corresponding clinical management standards. In order to further enhance the domestic level of the diagnosis and the comprehensive rehabilitation management of childhood dystonia，and to promote standardization of the clinical practice，the Subspecialty Group of Rehabilitation，the Society of Pediatrics，Chinese Medical Association put forward this consensus called “Chinese expert consensus on clinical rehabilitation practice in childhood dystonia” based on clinical experiences and research progresses at home and abroad，hoping to provide basic clinical ideas and reference standards for relevant practitioners.

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Paying attention to the identification and treatment of dystonia in children LI Ting-song, XIAO Nong 2023, 38(1): 16-18.  DOI: 10.19538/j.ek2023010602 Abstract ( )   Dystonia is common in children during neurorehabilitation practice.There are many differences between children and adults in terms of clinical profile and treatment.Therefore，it is mandatory to differentiate and identify the dystonia in children within the context of developmental stage.Correct diagnosis，thoroughly evaluation and consequent treatment option contribute to improving the prognosis of dystonia in children.Here，we reviewed the particularly clinical characteristics of dystonia in children aiming to expand the knowledge for the pediatricians in rehabilitation medicine.

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Clinical and rehabilitation progress of hereditary spastic paraplegia in children JIANG Hong-fang, YU Yong-lin, RUAN Wen-cong, et al 2023, 38(1): 19-23.  DOI: 10.19538/j.ek2023010603 Abstract ( )   Hereditary spastic paraplegia（HSP）is a group of rare neurodegenerative diseases caused by a single gene defect，which mainly manifests as progressive muscle weakness and spasticity of the lower extremities. HSP is classified according to genetic，phenotypic and molecular pathophysiological mechanisms.Although genetic testing is widely available，there are still limitations，and molecular diagnosis cannot be made in most suspected cases. Current treatments help manage the disease，but treatment outcomes remain unsatisfactory. This article aims to review the research progress of clinical diagnosis，treatment and rehabilitation of HSP.

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Clinical and rehabilitation progress of benign paroxysmal torticollis in infancy HAN Ming-shan, XU Kai-shou 2023, 38(1): 23-26.  DOI: 10.19538/j.ek2023010604 Abstract ( )   Benign paroxysmal torticollis of infancy is characterized by recurrent episodes of head tilt to one side. Associated symptoms，such as nausea，vomiting，irritability and ataxia are common. Most of them might resolve spontaneously in preschool age，but some could evolve into periodical vomiting，benign paroxysmal vertigo and even migraine. The aetiology of benign paroxysmal torticollis is still unclear，while it might be associated with vestibular dysfunction，channelopathy and genetic factors. So far，benign paroxysmal torticollis of infancy is still a lack of effective therapeutic strategy for it，and the management in acute attack stage such as anti-nausea and painkilling drugs can release partial symptoms. The efficacy of rehabilitation techniques，such as physical therapy，occupational therapy and massage， needs further study in benign paroxysmal torticollis of infancy.

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Research progress of dystonia in dyskinetic cerebral palsy in children ZHU Deng-na, QIAO Lu-sha, ZHANG Guang-yu, et al 2023, 38(1): 26-30.  DOI: 10.19538/j.ek2023010605 Abstract ( )   Dyskinetic cerebral palsy（DCP for short）is one of the common types of cerebral palsy in children，and dystonia is the main manifestation of motor dysfunction. The degree of motor dysfunction is severe，and the disability rate is high，which seriously affects the physical and mental health of children.This article reviews the etiology，pathogenesis，clinical manifestations，comorbidity，neuroimaging，rehabilitation evaluation，diagnosis and treatment，in order to help clinicians in the prevention，early diagnosis and rehabilitation of children with cerebral palsy.

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Clinical and rehabilitation progress of dopa-responsive dystonia in children HOU Mei, SUN Dian-rong 2023, 38(1): 30-35.  DOI: 10.19538/j.ek2023010606 Abstract ( )   Dopa-responsive dystonia（DRD）is a selective nigrostriatal dopaminergic system deficiency syndrome due to genetic defects in the dopamine synthesis pathway，characterized by progressive dystonia with marked diurnal fluctuations and a good response to levodopa，which accounts for 5% to 10% of primary dystonia in children and adolescents. In recent years，atypical pathogenic genes and features are often reported，and some cases have more severe features，which are defined as DRD-plus. The clinical and genetic heterogeneity underlie DRD frequently leads to misdiagnosis，which delays the appropriate treatment with levodopa and even leads to serious dysfunction. This article focuses on the etiopathogenesis，clinical manifestations，laboratory and other assistant examinatiens，rehabilitation evaluation and treatment，prognosis and other aspects of the research progress of the disease. The aim of this review is to help neurology and rehabilitation practitioners to improve the understanding of the disease，to achieve timely diagnosis and give specific treatment，and to improve dysfunction and prognosis.

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Clinical and rehabilitation progress of functional movement disorders in children YANG Jia-wen, ZHOU Hao-qin, ZHANG Hui, et al 2023, 38(1): 35-40.  DOI: 10.19538/j.ek2023010607 Abstract ( )   Functional movement disorders（FMDs）are complex neurobehavioral disorders that differ markedly from the movement disorders commonly seen in typical neurological disorders. The pathogenesis of FMDs includes bio-psycho-social patterns of predisposing，precipitating and persistent factors，neurobiological mechanisms and genetic mechanisms. The context of the COVID-19 pandemic and the widespread use of social media in recent years also have an impact on the onset of FMDs. Establishing a clinical diagnosis of FMDs requires clear clinical features，positive signs，and neuroimaging and electrophysiological examinations. Multidisciplinary care and family involvement have a positive effect on the outcomes of pediatric patients. In the future，basic and clinical research on children is needed. It is important to carry out professional training and education on FMDs in pediatricians，child health personnel and the public.

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Application value of WPPSI-IV language comprehension index in the assessment of language ability in children with autism spectrum disorder ZHAO Jin-zhu, TANG Li-na, HE Tian-yi, et al 2023, 38(1): 41-44.  DOI: 10.19538/j.ek2023010608 Abstract ( )   Objective　To assess the correlation between the Verbal Comprehension Index（VCI）of Wechsler Preschool and Primary Intelligence Scale （WPPSI-IV）and standardized language assessment tools，and to explore the application value of VCI in the assessment of the language ability of children with language disorders in ASD. Methods　From January 2019 to January 2020，69 children with ASD and 99 typical development children（TD）were selected as the subjects in the Division of Child Healthcare，Department of Pediatrics，Tongji Hospital，Tongji Medical College，Huazhong University of Science and Technology. We compared the VCI score in the WPPSI-IV scale with the overall language，listening comprehension，language expression，semantics and syntax in the Diagnostic Receptive and Expressive Assessment of Mandarin-Comprehensive （DREAM-C）. Results　The VCI of children with ASD language disorder was significantly correlated with DREAM-C listening comprehension（r=0.43）and semantics（r=0.48）（P<0.05）. VCI explained 15.10% of the variance of the overall DREAM-C language score. The correlation coefficients between VCI and DREAM-C listening comprehension（r=0.51），semantics（r=0.52），language expression（r=0.62）and syntax（r=0.50）of TD were statistically significant（P<0.05），and 31.34% of the variance of the overall language score of DREAM-C was explained by VCI. Conclusion　For the children in this study，the VCI index can predict part of the listening comprehension and semantic abilities of children with ASD，but due to the limited sample size，the research conclusions need to be verified by more clinical studies.

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Genetics and clinical characteristics of epilepsy associated with 1p36 deletion syndrome in 13 cases CHENG Miao-miao, YANG Ying, NIU Xue-yang, et al 2023, 38(1): 45-51.  DOI: 10.19538/j.ek2023010609 Abstract ( )   Objective　To summarize the genetics and clinical phenotype characteristics of epilepsy in children with 1p36 deletion syndrome. Methods　All epileptic patients with1p36 deletion syndrome were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2017 to November 2021，and the features of clinical manifestations，electroencephalogram，and neuroimaging were analyzed. Results　Thirteen patients with epilepsy associated with 1p36 deletion syndrome were included.All 13 patients had de novo copy number variation（CNV）with a deletion size between 1.38 and 8.1 Mb. The main genes in the region were MMP23B，GABRD，SKI and PRDM16. The age at seizure onset ranged from 17 days to 9 months，and the median age was 2.5 months. Multiple seizure types were observed，included epileptic spasm in 11 patients，focal seizures in 6 patients，tonic seizures in 2 patients and myoclonic seizures in 1 patient. Developmental delay was presented in all 13 patients.All 13 patients had craniofacial anomaly，including a flat nasal bridge，straight eyebrows，deeply set eyes，low-set ears，bigger eye distance and protruding ears. Eight patients had abnormalities in other systems，including congenital heart defects in 5 cases，hearing abnormalities in 4 cases，hemangioma in 3 cases，renal calculi in 1 case，congenital cataract in 1 case，micropenis in 1 case and a single transverse palmar crease on both hands in 1 case. Brain magnetic resonance imaging（MRI）showed enlargement of subarachnoid spaces in the frontal and temporal region in 3 patients，deep sulcus in 2 patients，enlargement of bilateral lateral ventricle in 5 patients，white matter hypoplasia in 4 patients and agenesis of corpus callosum in 2 patient.In 13 patients，nine patients were diagnosed with infantile spasms. The age at last follow-up ranged from 13 months to 8 years 5 months：two patients were seizure-free for 19 months to 2 years，one patient died of unknown cause，and 10 patients still had seizures. Conclusion　The main pathogenic genes in the deletion region of 1p36 deletion syndrome with epilepsy include MMP23B，GABRD，SKI and PRDM16. The seizure onset age of 1p36 deletion syndrome related epilepsy is in infancy. The main seizure types include epileptic spasm and focal seizure，and most patients fit the diagnosis of infantile spasms. Seizures are difficult to control in most patients. All patients have developmental delay and craniofacial anomaly，and some patients have abnormalities in other systems.

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Expression and significance of CD25 in peripheral blood in purpura nephritis YU Shi-han, MA Xiao-xue, WEI Tong, et al 2023, 38(1): 52-57.  DOI: 10.19538/j.ek2023010610 Abstract ( )   Objective　To investigate the relationship of CD25 expression in peripheral blood T cells and serum CD25 level with nephritis with Henoch-Schonlein purpura（HSP）in children，in order to help evaluate HSP. Methods　Forty children diagnosed with HSP were collected as study group and divided into two groups according to renal involvement：HSPN group（18 cases） and NHSPN group（22 cases）. During the same period，25 healthy children were taken as control group. The expression of CD25 in peripheral blood T cells was detected by flow cytometry. Serum CD25 levels were determined by enzyme-linked adsorption（ELISA）. The differences and relationship between the two groups were compared. Results　Compared with the control group，the expression of CD25 in peripheral blood of HSP children were decreased in CD3+ total T cells［HD（2.19±0.85）%、HSP（1.43±0.78）%］，CD3+CD4+T cells［HD（3.82±2.18）% 、HSP（2.40±0.95）%］ and CD3+CD4-T cells［HD（1.90±0.51）%、HSP（1.25±0.35）%］（P<0.05）. The expression of CD25 in peripheral blood CD3+CD4+T cells［NHSPN（2.62±1.03）% 、HSPN（2.11±0.78）%］ and the level of serum CD25［NHSPN（649.0±346.5）pg/mL、HSPN（407.0±141.0）pg/mL］ in HSPN children were lower than those in NHSPN children（P<0.05）. Serum CD25 level was negatively correlated with IgA level in HSP children（r=-0.5060，P<0.05），but was the expression of CD25［NHSPN（649.0±346.5）pg/mL、HSPN（407.0±141.0）pg/mL］ in peripheral blood T cells was not related To IgA level. Conclusion　The expression of CD25 in peripheral blood T cells and the level of serum CD25 are closely related to the developrnent and renal involvement of children with HSP，which is helpful for the evaluation of the disease.

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Research progress in newborn screening for severe combined immunodeficiency，X-linked agammaglobulinemia and spinal muscular atrophy CHEN Chi, ZHANG Chao, ZHOU Duo, et al 2023, 38(1): 58-63.  DOI: 10.19538/j.ek2023010611 Abstract ( )   Severe combined immunodeficiency （SCID）, X-linked agammaglobulinemia （XLA） and spinal muscular atrophy （SMA） are genetic birth defects that seriously affect children's health and even lead to death. Early screening, diagnosis and treatment are essential for improving prognosis and decreasing morbidity. Newborn screening is an effective measure to early identify patients with these birth defects. In some countries and regions, SCID, XLA and SMA have been added into NBS panels. As similarities in screening methods of these three diseases, the implement of combined newborn screening improves the cost-effectiveness of newborn screening.

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Diagnosis, treatment and management of epilepsy comorbid with tic disorders in children LIN Hai-sheng, CHEN Wen-xiong 2023, 38(1): 64-69.  DOI: 10.19538/j.ek2023010612 Abstract ( )   Epilepsy and tic disorders（TD） are both common chronic diseases in children. However, there are few reports on the comorbidity of the two diseases and the pathogenesis of comorbidity is not clear. Epileptic seizures might increase the risk of comorbid tic disorders in children with epilepsy. The pathogenesis of TD in children with epilepsy is thought to be mostly related to neurobiological factors and immune factors. No single fixed clinical manifestation of tic disorder in children with epilepsy has been found. The antiepileptic drugs which mainly improve the GABA nerve function in the brain are possibly effective in the treatment of TD in children with epilepsy. In addition, attention should be paid to avoid the use of some antiepileptic drugs that may aggravate TD. In clinic, TD attack is easy to be confused with some seizure types of epilepsy, and need to be classified carefully.

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Classical homocystinuria caused by CBS gene mutation：A case report and literature review FU Xiao-hui, WU Fei-fei, CUI Dong, et al 2023, 38(1): 70-73.  DOI: 10.19538/j.ek2023010613 Abstract ( )   Classical homocystinuria caused by CBS gene deficiency mainly affects the cardiovascular system，nervous system，bone and eyes. The diagnosis depends on genetic testing. The clinical data of a child with multiple thrombosis caused by classical homocystinuria were analyzed retrospectively and the related literatures were reviewed. For children with craniocerebral venous thrombosis caused by unknown causes，it is necessary to guard against the possibility of CBS gene mutation，complete genetic examination and carry out standardized treatment as soon as possible. For children without vitamin B6 response，liver transplantation can be performed as soon as possible before serious complications occur.

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A case of multiple carpotarsal osteolysis syndrome with nephrotic syndrome ZHANG Hai-mei, ZHANG Hong-xia, LIU Xue-mei, et al 2023, 38(1): 74-76.  DOI: 10.19538/j.ek2023010614 Abstract ( )   A 2-year-and-8-month-old child with the characteristics of "edema， proteinuria，joint swelling and pain，and limited mobility" was found to have a heterozygous mutation of the MAFB gene c. 209C>T （p.P70L） by gene detection，which was due to the rare pathogenic mutation reported abroad，and the parents of the child had no mutation of the gene. The patient was diagnosed with multiple osteolysis syndrome according to clinical manifestations and gene detection results. At the same time， the literature of this disease was reviewed to provide reference for future diagnosis and treatment of this disease.

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A case of spinal muscular atrophy with respiratory distress type 1 caused by IGHMBP2 gene variation and literature review GE Lin, FANG Fang 2023, 38(1): 77-80.  DOI: 10.19538/j.ek2023010615 Abstract ( )   The clinical manifestations of spinal muscular atrophy with respiratory distress type 1（SMARD1）are diverse. This article is to summarize the clinical features and gene variation characteristics of a patient with SMARD1 caused by IGHMBP2 gene variation. It found that the most common clinical manifestations are respiratory failure caused by diaphragm paralysis，progressive diatal muscle weakness and autonomic nervous system involvement. The auxiliary examination is characterized by normal or slightly moderate serum creatine kinase levels，chest X-ray characteristic diaphragmatic bulging，electromyogram and muscle biopsy indicated neurological damage. The reported pathogenic variations of IGHMBP2 are mainly minor mutations，the most common types are missense and nonsense mutations. For children with distal muscle weakness and obvious diaphragm involvement，it is necessary to consider the possibility of SMARD1 and improve IGHMBP2 gene analysis to help patients with diagnosis and prenatal diagnosis.