Independent walking in children with Dyskinetic Cerebral Palsy (DCP) profoundly influences long-term quality of life.However, studies on the relationship between independent walking and high-risk factors in children with Dyskinaetic Cerebral Palsy (DCP) remain limited, and a predictive model for independent walking in this population has not yet been established.This study aimed to develop and validate a nomogram model based on multivariate clinical indicators to predict the probability of achieving independent walking by 7 years of age, thereby supporting early clinical decision-making and individualized rehabilitation planning. The study was registered with the Chinese Clinical Trial Registry (Registration number: ChiCTR2300068075) on February 6, 2023. This retrospective study included 456 children with DCP registered in the Henan Provincial Children’s Cerebral Palsy Registration Management Platform and the medical record system of the Third Affiliated Hospital of Zhengzhou University from January 2004 to December 2022. The primary outcome was independent walking achieved at or before age 7. Follow-up was conducted through on-site assessments and telephone/WeChat interviews from January 2023 to December 2024. Using the R caret package, participants were randomly divided into training and validation sets (7:3 ratio). Independent predictors were identified through univariate and multivariate Cox regression analyses, and a nomogram was constructed. Model performance was assessed using the concordance index (C-index), Area Under the Receiver Operating Characteristic Curve (AUC), calibration curves, and Decision Curve Analysis (DCA). Of the 456 children, 167 (36.60

Global developmental delay (GDD) involves disruptions in early brain development, yet its underlying functional neurobiology is not fully characterized. Using functional near-infrared spectroscopy (fNIRS) during naturalistic stimulation in 49 children with GDD and 45 healthy controls (HCs) aged 2-4 years, we investigated functional brain network organization and local neural activity. We found that children with GDD revealed significant reductions in global efficiency (Eglobal), local efficiency (Elocal), clustering coefficient (CC), and functional connectivity strength within bilateral prefrontal networks, including the dorsolateral prefrontal cortex (DLPFC) and medial prefrontal cortex (mPFC). Additionally, local activity patterns were altered, with hypoactivity in prefrontal and hyperactivity in temporal regions. Network metrics correlated positively with developmental measures of motor, adaptive, and social functions. These findings demonstrate disrupted brain network organization and abnormal neural activity underlying cognitive and motor delays in GDD, highlighting the potential of these neurofunctional markers for early diagnosis and personalized intervention strategies.

Global developmental delay (GDD) affects 1–3% of young children, yet conventional rehabilitation is limited by accessibility, standardization, and individualization. Digital therapeutics (DTx) powered by artificial intelligence (AI) offer a scalable, adaptive alternative, but robust randomized evidence in GDD remains scarce. We assessed whether adding AI‑enabled DTx cognitive training to conventional rehabilitation improves developmental and adaptive outcomes in children aged 2–5 years with GDD. We conducted a multicenter, parallel‑group randomized controlled trial at five centers in China. We randomly assigned 118 children (1:1) to 16 weeks of either (i) conventional rehabilitation plus AI‑based digital cognitive training (intervention group, IG) or (ii) conventional rehabilitation plus an extra session of conventional cognitive‑language training (control group, CG). The primary outcome was change in developmental age (C‑PEP‑3). Secondary outcomes included adaptive functioning (S‑M scale) and developmental quotient (GDS). Intention‑to‑treat analysis used multiple imputation. Between‑group differences in change scores were compared with the Mann‑Whitney U test. The IG showed greater improvement in developmental age of C‑PEP‑3 (median difference 3.00 months, 95% CI 2.10 to 4.00; P<.001; r=0.505). Adaptive functioning (S‑M total score) also improved more in the IG (median difference 7.00 points, 95% CI 5.00 to 9.00; P<.001; r=0.582), as did GDS adaptive behavior (median difference 4.20 points, 95% CI 2.10 to 6.30; P<.001; r=0.373). Domain‑level gains favored IG across cognitive, social, and self‑help domains. Adverse events were mild and similar between groups. No serious adverse events occurred. AI-enabled DTx cognitive training improved cognitive and adaptive outcomes beyond those achieved with conventional rehabilitation alone. The intervention was safe and may provide a scalable adjunct for early intervention in children with GDD. Chinese Clinical Trial Registry: ChiCTR2500098770 （https://www.chictr.org.cn）

Prolonged disorders of consciousness (pDoC) in children lack objective and effective diagnostic methods to assess consciousness states, hindering targeted treatment selection and delaying recovery. It remains unclear whether EEG microstate analysis, a method capturing spatial and temporal dynamics of brain activity, can serve as a reliable tool to differentiate consciousness states in children with pDoC, warranting further investigation. Resting-state EEG data (32 channels) were collected over 10 minutes from 45 children, divided into three groups (n=15 each): Vegetative State/Unresponsive Wakefulness Syndrome (VS/UWS; 7 females, 5.9±1.2 years), Minimally Conscious State (MCS; 7 females, 5.7±1.0 years), and healthy controls (HC; 7 females, 5.8±1.3 years). Spatial and temporal properties of EEG microstates were compared across groups. Correlation analysis examined relationships between microstate parameters and Coma Recovery Scale-Revised (CRS-R) scores in children with pDoC. Support vector machine (SVM) models were trained using combined temporal and spatial microstate features, optimized via grid search and random search algorithms. Model performance was evaluated using standard metrics, and features were ranked by permutation importance. CRS-R scores differed significantly between VS/UWS and MCS (p < 0.001). The microstate (MS) C in VS/UWS showed only 1.1% topographic similarity to standard templates. HC showed stronger connectivity for MS A, C, and D, while MCS exhibited stronger functional connectivity for MS C and D compared to VS/UWS. VS/UWS had longer MS B duration, shorter MS C duration, and lower MS C coverage than MCS and HC (p < 0.05). CRS-R scores showed moderate correlations with MS B duration (r=-0.504, P=0.005), MS C coverage (r=0.679, P<0.001), and occurrence of MS C (r=0.744, P<0.001) and D (r=-0.709, P<0.001), but weak correlations with MS C duration (r=0.488, P=0.006) and MS B coverage (r=-0.376, P=0.041). Particle Swarm Optimization Support Vector Machine (PSO-SVM) classification outperformed Grid Search SVM (GS-SVM) and Quantum PSO-SVM (QPSO-SVM) (area under the curve [AUC] = 0.722), with MS C occurrence ranked as the top feature . This study demonstrates that EEG microstate analysis is an objective, user-friendly tool for differentiating consciousness states in children with pDoC. Machine learning algorithms, specifically support vector machines, revealed that MS C occurrence is a potential neurophysiological biomarker.

BACKGROUND:Global developmental delay (GDD) is a common childhood neurodevelopmental disorder characterized by the core symptoms of cognitive impairment. However, the underlying neural mechanisms of the cognitive impairment remain unclear. This study aimed to both analyze differences in electroencephalography (EEG) connectivity patterns between children with GDD and typical development (TD) using brain functional connectivity and to explore the neural mechanisms linking these differences to cognitive impairment. METHODS:The study enrolled 60 children with GDD and 60 TD children. GDD participants underwent clinical assessment via the Gesell Developmental Schedule (GDS). Resting-state EEG data were subjected to brain functional connectivity analysis and graph theory metric-based network analysis, with intergroup functional differences compared. Subsequently, correlation analysis characterized the relationships between GDD subject's brain network metrics and GDS-derived cognitive developmental quotient (DQ). Finally, three support vector machine (SVM) models were constructed for GDD classification and feature weight factors were calculated to screen potential EEG biomarkers. RESULTS:The two groups exhibited complex differences in functional connectivity. Compared with the TD group, the GDD group showed a large number of increased functional connections in the θ, α, and γ-bands, along with a small number of decreased functional connections in the α and γ-bands (all p < 0.025). Brain network analysis revealed lower global efficiency, local efficiency, clustering coefficient and small-world coefficient, as well as higher characteristic path length in GDD children across multiple bands (all p < 0.05). Correlation analysis indicated that global efficiency and small-world coefficient in θ and γ-bands were positively correlated with the DQ, while the characteristic path length in α and γ-bands was negatively correlated with DQ in the GDD group (all p < 0.05). Machine learning models showed that a quantum particle swarm optimization SVM (QPSO-SVM) achieved the highest classification performance, with characteristic path length in the γ-band being the highest weighted metric. CONCLUSIONS:Children with GDD exhibit abnormal patterns of brain functional connectivity, characterized by global hypo-connectivity and local hyper-connectivity. Specific network metrics under these abnormal patterns are significantly correlated with cognitive impairment in GDD. This study also highlights the potential of the γ-band characteristic path length as an EEG biomarker for diagnosing GDD.

Importance Global developmental delay (GDD) is characterized by a complex etiology, diverse phenotypes, and high individual heterogeneity, presenting challenges for early clinical etiologic diagnosis. Cognitive impairment is the core symptom, and despite the pivotal role of genetic factors in GDD development, the understanding of them remains limited. Objectives To assess the utility of genetic detection in patients with GDD and to examine the potential molecular pathogenesis of GDD to identify targets for early intervention. Design, Setting, and Participants This multicenter, prospective cohort study enrolled patients aged 12 to 60 months with GDD from 6 centers in China from July 4, 2020, to August 31, 2023. Participants underwent trio whole exome sequencing (trio-WES) coupled with copy number variation sequencing (CNV-seq). Bioinformatics analysis was used to unravel pathogenesis and identify therapeutic targets. Main Outcomes and Measures The main outcomes of this study involved enhancing the rate of positive genetic diagnosis for GDD, broadening the scope of genetic testing indications, and investigating the underlying pathogenesis. The classification of children into levels of cognitive impairment was based on the developmental quotient assessed using the Gesell scale. Results The study encompassed 434 patients with GDD (262 [60%] male; mean [SD] age, 25.75 [13.24] months) with diverse degrees of cognitive impairment: mild (98 [23%]), moderate (141 [32%]), severe (122 [28%]), and profound (73 [17%]). The combined use of trio-WES and CNV-seq resulted in a 61% positive detection rate. Craniofacial abnormalities (odds ratio [OR], 2.27; 95% CI, 1.45-3.56), moderate or severe cognitive impairment (OR, 1.69; 95% CI, 1.05-2.70), and age between 12 and 24 months (OR, 1.57; 95% CI, 1.05-2.35) were associated with a higher risk of carrying genetic variants. Additionally, bioinformatics analysis suggested that genetic variants may induce alterations in brain development and function, which may give rise to cognitive impairment. Moreover, an association was found between the dopaminergic pathway and cognitive impairment. Conclusions and Relevance In this cohort study of patients with GDD, combining trio-WES with CNV-seq was a demonstrable, instrumental strategy for advancing the diagnosis of GDD. The close association among genetic variations, brain development, and clinical phenotypes contributed valuable insights into the pathogenesis of GDD. Notably, the dopaminergic pathway emerged as a promising focal point for potential targets in future precision medical interventions for GDD.

OBJECTIVE:Most paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet approximately 60% of patients remain genetically undiagnosed. We undertook the present study to uncover the genetic basis for undiagnosed PKD patients. METHODS:Whole-exome sequencing was performed for 106 PRRT2-negative PKD probands. The functional impact of the genetic variants was investigated in HEK293T cells and Drosophila. RESULTS:Heterozygous variants in KCNJ10 were identified in 11 individuals from 8 unrelated families, which accounted for 7.5% (8/106) of the PRRT2-negative probands. Both co-segregation of the identified variants and the significantly higher frequency of rare KCNJ10 variants in PKD cases supported impacts from the detected KCNJ10 heterozygous variants on PKD pathogenesis. Moreover, a KCNJ10 mutation-carrying father from a typical EAST/SeSAME family was identified as a PKD patient. All patients manifested dystonia attacks triggered by sudden movement with a short episodic duration. Patch-clamp recordings in HEK293T cells revealed apparent reductions in K+ currents of the patient-derived variants, indicating a loss-of-function. In Drosophila, milder hyperexcitability phenotypes were observed in heterozygous Irk2 knock-in flies compared to homozygotes, supporting haploinsufficiency as the mechanism for the detected heterozygous variants. Electrophysiological recordings showed that excitatory neurons in Irk2 haploinsufficiency flies exhibited increased excitability, and glia-specific complementation with human Kir4.1 rescued the Irk2 mutant phenotypes. INTERPRETATION:Our study established haploinsufficiency resulting from heterozygous variants in KCNJ10 can be understood as a previously unrecognized genetic cause for PKD and provided evidence of glial involvement in the pathophysiology of PKD. ANN NEUROL 2024;96:758-773.

OBJECTIVE:To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).METHODS:A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.RESULTS:The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.CONCLUSION:The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.

OBJECTIVES:To study the clinical and genetic features of Joubert syndrome (JS) in children.METHODS:A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.RESULTS:Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.CONCLUSIONS:For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Objective:To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations.Methods:Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data.Results:Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient.Conclusions:Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.

不随意运动型脑性瘫痪(脑瘫)是小儿脑瘫常见类型之一,肌张力障碍为其运动障碍的主要表现,病情较重,致残率高,严重影响儿童的身心健康.文章从病因学、发病机制、临床表现、共患病、神经影像学、康复评定、诊断及治疗等方面进行综述,以期对临床医生在此类脑瘫患儿的预防、早期诊断及康复等方面决策有所帮助.

OBJECTIVE:To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP).METHODS:A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites.RESULTS:The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3).CONCLUSION:The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.

OBJECTIVE:To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.METHODS:A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.RESULTS:Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).CONCLUSION:The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.

目的 探讨鱼鳞病样角化症、痉挛、髓鞘形成障碍和面部畸形(IKSHD)的临床特点及其致病基因.方法 回顾分析1例IKSHD患儿的临床资料,并复习相关文献.结果 患儿男性,1岁7个月,肘、膝、踝关节及小腿背侧皮肤鱼鳞病样角化症,痉挛性截瘫,眼球震颤伴斜视,面部畸形,听力障碍.头颅磁共振示脑白质髓鞘化障碍.全外显子测序结果显示患儿ELOVL 1基因c.464 G>C杂合突变,家系验证患儿父母均为野生型,该突变位点未见报道.根据ACMG指南评级为可能致病变异,结合患儿临床表现诊断为IKSHD.结论 确诊患儿为IKSHD,新发现c.464 G>C错义突变位点,基因检测有助于临床确诊.

目的 观察补肾健脑针法联合运动疗法对痉挛型脑瘫患者精细运动功能及血清神经生长因子(NGF)、脑源性神经营养因子(BDNF)水平的影响.方法 将106例痉挛型脑瘫患者,采用随机数字表法分为针刺组和运动组,每组53例.运动组采用运动疗法治疗,针刺组采用补肾健脑针法联合运动疗法治疗.观察两组治疗前后精细运动功能及血清神经生长因子(NGF)、脑源性神经营养因子(BDNF)水平变化,并比较脑瘫严重程度.结果 治疗1个月后及治疗后,两组精细运动功能(FMFM)评分、粗大运动功能(GMFM)评分均较治疗前升高(P<0.05),针刺组高于运动组(P<0.05).治疗后,两组血清NGF、BDNF水平均升高(P<0.05),针刺组高于运动组(P<0.05);针刺组脑瘫严重程度分布优于运动组(P<0.05).结论 补肾健脑针法联合运动疗法可减轻痉挛型脑瘫患者病情严重程度,提高精细运动与粗大运动功能,其机制可能与升高血清NGF、BDNF水平有关.

目的 检测微小RNA-138(miR-138)、微小RNA-338(miR-338)在痉挛型脑性瘫痪患儿中表达水平,并探究两者的临床价值.方法 选取2018年3月-2020年4月于本院门诊就诊及住院治疗的64例痉挛型脑性瘫痪患儿为研究对象(痉挛型脑性瘫痪组);同期选取62例健康体检儿童作为健康对照组.采用实时荧光定量PCR (qRT-PCR)法检测各组受试儿童血清中miR-138、miR-338表达水平;采用酶联免疫吸附(ELISA)法检测各组受试儿童血清肿瘤坏死因子-α(TNF-α)、C-反应蛋白(CRP)、神经生长因子(NGF)、内皮素(ET)水平;采用Pearson法分析痉挛型脑性瘫痪患儿血清miR-138、miR-338与TNF-α、CRP、NGF、ET表达水平相关性;采用受试者工作特征曲线(ROC)分析血清miR-138、miR-338水平对痉挛型脑性瘫痪的诊断价值;采用多因素Logistic回归分析影响痉挛型脑性瘫痪发生的因素.结果 痉挛型脑性瘫痪组血清中miR-138、miR-338、TNF-α、CRP、ET表达水平高于健康对照组,NGF表达水平低于健康对照组,差异均有统计学意义(t=9.598、9.592、11.039、42.397、14.172、5.744,P＜0.05).痉挛型脑性瘫痪患儿血清miR-138与miR-338呈正相关(r=0.687,P＜0.05),且二者均与TNF-α、CRP、ET水平呈正相关(miR-138:r=0.519、0.483、0.494;miR-138:r=0.506、0.492、0.516,P＜0.05),与NGF水平呈负相关(r=-0.522、-0.496,P＜0.05).血清miR-138、miR-338诊断痉挛型脑性瘫痪的曲线下面积(AUC)分别为0.882、0.858,截断值分别为1.189、1.406,特异性分别为75.8％、93.5％,敏感度分别为87.5％、67.2％;二者联合诊断痉挛型脑性瘫痪的AUC为0.950,特异性为90.3％,敏感度为93.8％.Logistic回归显示miR-138、miR-338是痉挛型脑性瘫痪发生的危险因素[OR(95％CI)分别为2.280(1.742～2.983)、2.222(1.637～3.016)],NGF是痉挛型脑性瘫痪发生的保护因子[OR(95％ CI)为0.720(0.527～0.984),P＜0.05].结论 痉挛型脑性瘫痪患儿血清中miR-138、miR-338表达水平显著上调,二者对痉挛型脑性瘫痪的发生、发展可能有重要提示作用.

目的 探讨钼辅因子缺乏症的临床及遗传学特征.方法 回顾分析1例确诊钼辅因子缺乏症患儿的临床资料.结果 女性患儿,6月龄,生后即出现喂养困难、抽搐,并逐渐出现小头畸形、痉挛型四肢瘫等.全外显子测序发现患儿MOCS 2基因存在c.473 T>G(p.Leu 158*)和c.472_477 del(p.Leu 158_Lys 159 del)复合杂合变异,分别遗传自父亲和母亲.按照美国医学遗传学学会指南,c.473T>G为致病变异,c.472_477del为可能致病变异.结论 患儿被确诊为MOCS2基因杂合变异所致的钼辅因子缺乏症.

OBJECTIVE:To study the effect of rehabilitation treatment based on the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) Core Sets on activities of daily living in children with cerebral palsy. METHODS:The children with cerebral palsy were divided into an observation group (n=63) and a control group (n=59) using a random number table. The children in the observation group were evaluated using the brief ICF-CY Core Sets for children under 6 years to identify intervention targets and develop rehabilitation plans and goals, and then specific methods were selected for rehabilitation treatment. The children in the control group were evaluated and treated with the traditional rehabilitation mode. The scores of the Functional Independence Measure for Children (WeeFIM) and the Infants-Junior Middle School Students' Social-Life Abilities Scale were assessed for both groups before treatment and after three courses of treatment. The intervention of environmental factors was compared between the two groups. RESULTS:There was no significant difference in the scores of the WeeFIM and Social-Life Abilities scales between the two groups before treatment (P > 0.05). After treatment, both groups had significant increases in the scores of the WeeFIM and Social-Life Abilities scales (P < 0.001). The observation group had significantly higher scores of WeeFIM and Social-Life Abilities scales than the control group after treatment (P < 0.05). There was no significant difference in the use rate of orthosis between the two groups (P > 0.05), but the use rate of assistive devices for self-help, transfer and communication, the rate of facility renovation, and the rate of family rehabilitation guidance in the observation group were significantly higher than those in the control group (P < 0.05). CONCLUSIONS:The rehabilitation treatment regimen for cerebral palsy based on the CF-CY Core Sets pays more attention to the influence of environmental factors in the process of rehabilitation and can effectively improve the activities of daily living of children with cerebral palsy.

目的 对Joubert综合征进行临床特点和遗传学分析.方法 回顾分析1例确诊的Joubert综合征患儿的临床资料.结果 患儿男性,3个月,双眼不追视、发育落后,四肢肌张力偏低.头颅磁共振示"磨牙征".全外显子测序显示患儿MKS1基因c.1411_c.1412 insG及c.44 A>G复合杂合突变.Sanger测序验证c.1411_c.1412 insG移码突变来自于父亲,已有报道;c.44 A>G错义突变来自于母亲,未见报道,根据ACMG指南为可能致病变异.患儿确诊为Joubert综合征.结论确诊患儿为Joubert综合征,新发现c.44 A>G错义突变.

Objective:To observe the clinical efficacy and any side effects of using ultrasound-guided injection of botulinum toxin A in treating juvenile sialorrhoea.Methods:Forty children with sialorrhoea were randomly divided into group A and group B, each of 20. Under the guidance of color Doppler ultrasound, botulinum toxin type A (BoNT-A) was injected into the children′s 2 parotid glands and their submandibular glands. Each parotid gland was injected with 20u of BoNT-A, while 10u was injected into the submandibular gland in group A and 20u was injected in group B. Before and 2, 8 and 12 weeks after the injections, the children′s sialorrhoea was evaluated using teacher drooling sizing (TDS), the drooling quotient and the Saxon test (ST). Any side-effects were also observed.Results:There was no significant difference in the average TDS score, drooling quotient or ST score between the two groups before the intervention. After the intervention all of those measurements had decreased significantly, but there were still no significant differences between the two groups in any measurement at any time point.Conclusions:Botulinum toxin type A injection under the guidance of ultrasound is accurate and safe. The injection of 10u is sufficient to relieve children′s sialorrhoea without serious side effects.