BACKGROUND:Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a rising global prevalence. Mutations in the CHD8 gene have been implicated in ASD, yet the underlying molecular mechanisms remain insufficiently understood. METHODS:We analyzed transcriptomic data from the CHD8A and CHD8B allelic deletion sample dataset GSE236993 to identify differentially expressed genes (DEGs). We intersected these DEGs with genes related to the Notch signaling pathway and performed functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, as well as protein-protein interaction (PPI) analyses, to identify key genes. These key genes were validated using the CHD8-deficient sample dataset GSE85417, resulting in the identification of seven common key genes. We then constructed drug-gene interaction networks and microRNA (miRNA) regulatory networks to further elucidate the mechanisms by which CHD8 impacts ASD. RESULTS:Seven hub genes-IGF2, FN1, CXCR4, COL11A1, ITGA6, LOX, and FBN2-were identified, all involved in the Notch signaling pathway and playing significant roles in neurodevelopment and extracellular matrix regulation. Among these, IGF2 and CXCR4 were particularly crucial in ASD pathogenesis, suggesting their potential as diagnostic biomarkers and therapeutic targets. MiRNA regulatory network analysis revealed several miRNAs that may modulate these hub genes, offering new insights into ASD pathogenesis. Drug-gene interaction analysis suggested possible therapeutic small-molecule compounds, such as AMD3100 and IGF-1R inhibitors. CONCLUSIONS:Our multi-level bioinformatics analysis identified key genes and regulatory networks potentially involved in ASD associated with CHD8 deficiency. These findings enhance the understanding of ASD's molecular mechanisms and highlight potential therapeutic targets, paving the way for future diagnostic and treatment strategies.

Objective To observe the effects of aerobic exercise in an enriched environment on restricted repetitive behaviors(RRBs)and working memory in children with autism spectrum disorder(ASD).Methods A total of 62 children with ASD who vis-ited the Department of Rehabilitation of Children's Hospital of Soochow University from May to December 2022 were selected as the research subjects.Using the random number table sampling method,these children were randomly divided into control group(n=31)and observation group(n=31).Both the two groups underwent routine rehabilitation training;in addition,the control group participated in group indoor walking activities,and the observation group engaged in group indoor obstacle-crossing running as a form of aerobic exercise,with the indoor environment being changed once a week.The exercises were performed for 15 minutes per session,twice a day,5 days a week for 15 weeks.The repetitive behavior scale-revised(RBS-R)was used before and after treatment to assess RRBs,and the fourth edition of the Webster Preschool and Primary Scale of Intelligence/Wechsler Intelligence Scale for Children(WPPSI/WISC-Ⅳ)were used for working memory assessment.Results After 15 weeks of treatment,the total score of RBS-R in the control group was significantly lower than that before treatment,and the difference was statistically significant(P<0.05).The observation group showed significant reductions in stereotyped behavior,compulsive behavior and total score com-pared to those before treatment,and the differences were statistically significant(P<0.05,P<0.01).When comparing the two groups,the total RBS-R score in the observation group was significantly lower than that in the control group,and the difference was statisti-cally significant(P<0.05).The working memory score of WPPSI/WISC-Ⅳ in the observation group significantly improved com-pared with that before treatment(P<0.05),and there was no significant change in the control group compared with before treatment.At 4 weeks after the aerobic exercise intervention was discontinued,the RBS-R scores in the observation group further reduced compared with the scores at the 15 weeks of the intervention,and the differences were statistically significant(P<0.05).Conclu-sion Aerobic exercise in an enriched environment can reduce RRBs in children with ASD and improve working memory,and the reduction of RRBs in children with ASD can be sustained after the cessation of aerobic exercise.

Recently, the loss-of-function, heterozygous, and de novo mutations of the CTNNB1 gene have been proven to be partially responsible for intellectual disability in some patients. Herein, we report two unrelated children with neurodevelopmental disorder, abnormal facial features, speech impairments, microcephaly, and dystonia. Based on whole exome sequencing (WES), two new heterozygous and pathogenic mutations in exon 10 (c.1586dupA:p.Q530Afs*42) and exon 4 (c.257dup:p.Y86*) were identified in the CTNNB1 gene for the first time. These findings not only enrich the genetic spectrum of the CTNNB1 gene but also provide evidence for its role in neuronal development.

Objective:To observe the effect of rich environmental rehabilitation training on the physical system and ner-vous system development of newboms with hypoxic-ischemic encephalopathy(HIE). Method:Sixty-one HIE newboms were divided into the observation group(n=31)and the control group(n=30).The control group was given the routine clinical treatment and care,and the observation group was supplemented with enriched environmental rehabilitation training on the basis of the control group for 3 weeks.The body length and weight,and the head circumference of the two groups were measured to assess the physical development at admis-sion and 3 weeks after the intervention,and the neonatal behavioral neurological assessment(NBNA)and test of in-fant motor performance(TIMP)were used to evaluate the neurological development and motor function. Result:After the intervention,the changes of body length and weight changes in the observed group were bet-ter than the control group(P＜0.05),no significant difference in head circumference(P＞0.05),and the NB-NA score and TIMP score were higher than those of the control group(P＜0.05). Conclusion:The application of rich environmental rehabilitation training can promote the rapid development of physique and nervous system of the newboms with HIE and improve the motor function.

Objective The aim of this study is to evaluate the efficacy and safety of traditional Chinese medicine (TCM) for postviral olfactory dysfunction (PVOD). Methods PubMed, EMBASE, Cochrane Central Register of Controlled Trials, China Network Knowledge Infrastructure (CNKI), Chinese Scientific Journal Database (VIP), Chinese Biomedical and Medical (CBM) Database, and Wanfang Database were electronically searched from their inception to July 25, 2022. Two authors independently performed study selection, data extraction, and quality assessment to ensure systematic quality evaluation. Randomized controlled trials (RCTs) comparing TCM with olfactory training and/or drug therapy (OTDT) were included. The outcomes were the effective rate, QOD-P, TDI score, UPSIT score, and adverse effects. Cochrane RoB was the guideline used to evaluate the methodological quality of the included trials. RevMan 5.3 software was used for statistical analysis. Results A total of 6 RCTs involving 467 patients with PVOD were selected. Compared with OTDT, TCM plus OTDT decreased QOD-P (MD = −1.73, 95% CI (−2.40, −1.06), P < 0.0001) but did not increase the effective rate (T&T) (RR = 1.28, 95% CI (0.86, 1.90), P=0.22, I2 = 61%). Compared with no treatment, TCM seemed to increase the treatment success rate (UPSIT) (RR = 3.17, 95% CI (1.78, 5.65), P < 0.0001, I2 = 0%), but there was no statistically significant difference in improving the UPSIT score (MD = 3.44, 95% CI (−1.36, 8.24), P=0.16). Compared with drug therapy, TCM plus drug therapy appeared to increase the effective rate (ΔVAS) (RR = 2.36, 95% CI (1.41, 3.94), I2 = 0%), but there was no statistically significant difference in improving the TDI score (MD = 2.10, 95% CI (−1.99, 6.19), P=0.31). No significant differences in adverse reactions were reported between TCM and OTDT. Conclusion TCM may be an effective treatment for PVOD. With a lack of high-quality RCTs, further large-scale and high-quality RCTs are still warranted.

Objective:To observe the effect of repetitive transcranial magnetic stimulation(rTMS)combined with local vibra-tion(LVB)therapy on lower limb spasticity,balance function and gait function in children with hemiplegic cerebral palsy(HCP).Methods:A total of 66 children with HCP,who were treated in the Children's Hospital of Soochow University from January 2022 to December 2022 were randomly divided into control group,rTMS group and combined group,with 22 cases in each group.The control group received routine rehabilitation training(physical modality therapy,spasmodic muscle stretching training,postural transfer training,standing blance training and gait training,etc),30 minutes a time,once a day,five days a week,lasting for twelve weeks.The rTMS group received low-frequency rTMS treatment additionally,with a frequency of five Hz and a stimulation intensity of 35%motor threshold(MT),the stimulation time of 10 s,and the interval of 20 s,20 minutes a time,once a day,five days a week,lasting for 12 weeks.The combined group received LVB therapy in addition to the treatment of the rTMS group,and the vibration frequency was set to 15-20 Hz,within seven mm displacement,10 minutes a time,once a day,five days a week,lasting for 12 weeks.Before and after treatment,the modified Ashworth scale(MAS)was used to evaluate the muscle tone;the balance subscale of Fugl-Meyer test(FM-B)was used to evaluate the balance function,and the Gait Watch three-dimensional gait analysis system was used to evaluate the three-dimensional gait parameters(stride speed,stride length,hip flexion,knee flexion and ankle flexion of the affected side).Results:Compared with that before treatment,MAS scores of the rTMS group and the combined group after treat-ment decreased significantly,the FM-B scores and gait parameters(stride speed,stride length,hip flexion,knee flexion and ankle flexion of the affected side)increased significantly,and the differences were statistically significant(P<0.05).Compared with the control group,MAS scores of the rTMS group and the combined group after treatment decreased significantly,FM-B score,stride length and stride speed increased significantly(P<0.05);compared with the rTMS group,MAS score of the combined group after treatment decreased significantly,FM-B score and gait parameters(stride speed,stride length,hip flexion,knee flexion and ankle flexion of the affected side)increased significantly,and the differences were statistically significant(P<0.05).Conclusion:The rT-MS combined with LVB therapy can effectively improve the lower limb spasticity,balance function and gait function of children with HCP,which is recommended for clinical application.

目的 探讨6～10岁脑性瘫痪(简称脑瘫)儿童手功能与生活自理能力的相关性.方法 选取2019年1月—2021年6月在医院确诊且年龄在6～10岁(手功能分级I～III级)的脑瘫儿童53例为研究对象,采用横断面研究,使用一般资料调查表、双手操作功能调查表、中文版儿童残疾评定量表-计算机自适应测试、瑞文彩色型推理测验、执行功能行为评定量表父母版对脑瘫儿童进行调查.采用t检验、Pearson相关性分析和线性回归分析检验脑瘫儿童手功能与生活自理能力的相关性.使用Graphpad prism 9.3绘制散点图,使用Dagitty online software构建有向无环图为线性回归模型选择变量.结果 脑瘫儿童手功能与生活自理能力之间呈正相关性,痉挛型偏瘫儿童手功能与生活自理能力之间的相关性更强(r=0.727,P<0.05).痉挛型偏瘫和痉挛型四肢瘫儿童各项量表得分差异无统计学意义(P>0.05);线性回归模型中,手功能是生活自理能力的影响因素.结论 手功能与生活自理能力之间有着正相关关系.痉挛型偏瘫和痉挛型四肢瘫儿童的手功能和生活自理能力之间的相关程度不同.

目的 探讨重复经颅磁刺激联合感觉统合训练治疗注意缺陷多动障碍(ADHD)儿童的临床效果.方法 选择2019年10月—2021年9月本院收治的69例ADHD患儿作为研究对象,采用随机数表法分为感觉统合(SI)组、重复经颅磁刺激(rTMS)组和联合组,每组各23例.SI组给予针对性的感觉统合训练,rTMS组以10Hz高频刺激右侧背外侧前额叶皮质,联合组先进行SI训练,随后以rTMS刺激.三组治疗持续12周.治疗前后以Conners父母用症状问卷(PSQ),中文版斯诺佩第4版评估量表(SNAP-Ⅳ)和视听整合持续操作测试(IVA-CPT)进行疗效评估.结果 治疗12周后,三组患儿PSQ评分和SNAP-Ⅳ评分各因子分较治疗前均显著下降,差异有统计学意义(P<0.05),联合组各因子分均优于SI组和rTMS组,差异有统计学意义(P<0.05),而SI组和rTMS组间比较,差异无统计学意义(P>0.05).IVA-CPT评分较治疗前显著提升,联合组各因子分均优于SI组和rTMS组,差异有统计学意义(P<0.05).SI组和rTMS组间比较,差异无统计学意义(P>0.05).结论 重复经颅磁刺激联合感觉统合训练可显著改善ADHD儿童的核心症状,提高抑制控制能力,增强注意力水平,且效果优于单一疗法.

目的 探讨1例genitopatellar综合征患儿的临床及分子遗传学特征及其康复治疗.方法 分析1例genitopatellar综合征患儿的临床特点及基因突变资料,并评估其康复干预的疗效.结果 患儿存在骨骼、生殖器、胼胝体、心脏、肾脏等多脏器发育不良以及严重的精神运动发育迟缓,全外显子组测序分析结果显示患儿的KAT6B基因c.3845delA.(p.E1282Gfs*6)杂合移码变异,该杂合变异未见文献报道,早期干预、定期评估、避免二次损伤对患儿具有重要临床意义.结论 KAT6B基因c.3845delA.(p.E1282Gfs*6)杂合移码变异可能为患儿的致病原因,系统规范化的康复干预对患儿运动及语言发育方面有一定的积极作用.

Objective: In this study, we examined the effect of early rehabilitation on exercise and mental development in high-risk infants. Methods: twenty-three patients with high risks in neonatal intensive care unit (NICU) were treated with rehabilitation as the intervention group in The Children's Hospital of Soochow University, forty-six high risk infants without early rehabilitation treatment who were hospitalized during the same period were selected as the control group. The Intervention group was treated with early reha-bilitation twice a week (including visual, auditory, tactile stimulation, vestibular exercise stimulation, and the head and limbs exercise training) during hospitalization and received a one-year follow-up and early rehabilitation guidance after discharge. Control group was taken regular children care. Neuropsychological and behavioral evaluations in children were performed at 3, 6, and 12 months by Alberta Infant Motor Scale (AIMS) and Gesell infant development scale. Results: The total score and percentile of AIMS in the intervention group significantly increased from 3 months to 6 months, and form 6 months to 12 months respectively (P<0.01). There was no statistical difference in the exercise area (EA), adaptive behavior area (AA), speech act area (SA), and personal social behavior area (PA) of development quotient (DQ) at 3 months between intervention group and control group (P>0.05). However, exercise and adaptive behaviors of the DQ at 6 months in the intervention group were higher than that in the control group (P<0.01). At 12 months, four aspects (EA, AA, SA, PA) of the DQ in the intervention group were much higher than that in the control group (P<0.01). Conclusion: Early Rehabilitation Intervention in patients with high risk improved children's exercise quality, adaptive behaviors, personal social behaviors, the perception of cognitive ontology experience and the ability to adapt to the surrounding environment.

目的探讨ALDH5A1基因突变致琥珀酸半醛脱氢酶缺陷症（SSADHD）的临床特征,基因突变及致病机制。方法回顾分析1例SSADHD患儿的临床资料和基因测序结果,并复习相关文献。结果患儿,女,3岁6个月,表现为反复发作的发作性肌张力障碍。头颅磁共振成像、视频脑电图、血液生化检查、血尿遗传代谢筛查均无异常。基因测序显示,ALDH5A1基因外显子区域有2处杂合突变,c.112G＞A（p.A38T）（致病性尚不明确）、c.1529C＞T（p.S510F）（已报道的致病突变）;2处杂合突变分别来自其父母,为复合杂合突变,符合常染色体隐性遗传规律。确诊为ALDH5A1突变致SSADHD。检索到相关文献26篇,报道75种ALDH5A1突变,分别位于外显子1～11,涉及错义突变、缺失突变、插入突变、剪切突变和无义突变。结论 ALDH5A1基因突变与SSADHD发生密切相关,基因检测有助SSADHD确诊。

Objective: To study the role and duration of application of assistive devices in children with cerebral palsy (CP). Methods: We randomly assigned forty-five children with dyskinetic CP: (1) no sitting chair group (DN group, fifteen children); (2) 1-3 hours of daily chair sitting group (DA group, fifteen children); and (3) 4-6 hours of daily chair sitting group (DB group, fifteen children). After six months of regular rehabilitation, both gross motor skills and fine motor skills were evaluated and compared. Additionally, we randomly assigned one hundred and twenty children with spastic CP who received walking training to the following groups: (1) no ankle-foot orthosis (AFO) wearing group (SN group, forty children); (2) 1-3 hours of daily AFO wearing group (SA group, forty children); (3) 4-6 hours of daily AFO wearing group (SB group, forty children). After six months of regular rehabilitation, both gross motor skills and fine motor skills were evaluated and compared. Results: The application of the sitting chair improved the gross motor function of children with dyskinetic CP. In addition, application of the assistive device improved fine motor activities. The ability Gross Motor Function Measure 66 (GMFM-66) Area II score of children from group DB was significantly higher than that of children from group DA (55.70 +/- 2.58 vs. 40.89 +/- 2.64, P < 0.05). Moreover, the ability Fine Motor Function Measure (FMFM) score of children from group DB was significantly higher than that of children from group DA (35.80 +/- 0.73 vs. 32.49 +/- 0.64, P < 0.05). Wearing AFO could improve the walking ability in children with spastic CP. In addition, it improved fine motor activities. The ability GMFM-66 Area II score of children from group SB was 63.45 +/- 2.66, while that of children from group SA was 59.22 +/- 2.71 (P < 0.05). The ability FMFM score of children from group SB was 47.28 +/- 2.31, while that of children from group SA was 44.01 +/- 2.30 (P < 0.05). Conclusion: Appropriate daily use of assistive devices has a great effect on the motor function and fine motor activity of children with CP. It further expands the children's range of movement and improves their social participation, in accordance to the idea of rehabilitation under ICF-CY framework.

目的:观察针刺治疗技术对孤独症谱系障碍(A S D)儿童感觉统合失调治疗的临床疗效.方法:将30例存在感觉统合失调的A S D儿童按就诊顺序分为干预组和对照组,每组15例.对照组予常规康复治疗,干预组在常规康复的基础上加上针刺治疗.两组患儿在治疗前、治疗后6个月分别采用感觉统合能力发展评定量表进行评分.结果:经过6个月的治疗,两组患儿的触觉防御,前庭平衡,本体感觉,视听语言,社会适应的评分均较治疗前有好转(P<0.05或P<0.01).两组间比较显示干预组的前庭平衡,本体感觉的评分改善优于对照组,而触觉防御,视听语言,社会适应的评分改善无统计学差异(P>0.05).结论:常规康复治疗对ASD儿童的感觉统合失调障碍有明确的改善作用,同时加上针刺治疗,在前庭平衡,本体感觉方面可以进一步改善.