The relationship between genetic factors and the development of cerebral palsy (CP) has recently attracted much attention. Polymorphisms in the genes encoding proinflammatory cytokines have been shown to be associated with susceptibility to perinatal brain injury and development of CP. Interleukin-6 (IL-6) is a proinflammatory cytokine that plays a pivotal role in neonatal brain injury, but conflicting results have been reported regarding the association between IL-6 single nucleotide polymorphisms (SNPs) and CP. The purpose of this study was to analyze IL-6 gene polymorphisms and protein expression and to explore the role of IL-6 in the Chinese CP population.

This study aimed to determine the impact of a ketogenic diet (KD) on neurobehavioral development when used to treat children with intractable epilepsy, confirming the efficacy of the KD, as well as the correlation between early electroencephalography (EEG) changes in the early stage with treatment efficacy. We enrolled 42 children who were starting treatment for intractable epilepsy with the classic KD protocol. The total development quotient as well as the development quotients for adaptability, gross motor movements, fine motor movements, language, and individual-social interaction on the Gesell developmental scales were assessed before and after 3, 6, 12, and 18 months of KD treatment. The efficacy assessment was based on changes in seizure frequency after KD as recorded by the parents. We conducted 24-h video-EEG before and after 1 month of KD treatment. Developmental quotients of five energy regions in the Gesell developmental scales assessment were used to compare adaptability (P1=0.000), gross motor movements (P2=0.010), and fine motor movements (P3=0.000); the results showed significant differences. After KD treatment at different time points, 69.0%, 54.8%, 40.5%, and 33.3% patients, respectively, achieved a ≥50% reduction in seizure frequency. The reduction of epileptiform discharges in the awake state after 1 month of KD treatment correlated with the efficacy after 3 months of KD treatment. Ketogenic diet treatment tends to be associated with improved neurobehavioral development, and more significant improvement can be obtained with prolonged treatment. The KD is safe and effective in treating children with intractable epilepsy. Early EEG changes correlate with clinical efficacy, to a certain degree.

Purpose: Soft robotic exoskeletons (SREs) are portable, lightweight assistive technology with therapeutic potential for improving lower limb motor function in children with cerebral palsy. To understand the effects of long-term SRE-assisted walking training on children with spastic cerebral palsy (SCP), we designed a study aiming to elucidate the effects of SRE-assisted walking training on lower limb motor function in this population. Methods: In this randomized, single-blinded (outcome assessor) controlled trial, forty children diagnosed with SCP were randomized into the routine rehabilitation (RR) group (N = 20) and the SRE group (N = 20) for comparison. The RR group received routine rehabilitation training, and the SRE group received routine rehabilitation training combined with SRE-assisted overground walking training. Assessments (without SRE) were conducted pre- and post-intervention (8 weeks after the intervention). The primary outcome measures included the 10 m walk test (10MWT) and the 6 min walk test (6MWT). Secondary outcome measures comprised the gross motor function measure-88, pediatric balance scale modified Ashworth scale, and physiological cost index. Results: Both groups showed significant improvements (p < 0.01) across all outcome measures after the 8-week intervention. Between-group comparisons using ANCOVA revealed that the SRE group demonstrated greater improvement in walking speed from the 10MWT (+6.78 m/min, 95% CI [5.74–7.83]; p < 0.001) and walking distance during the 6MWT (+34.42 m, 95% CI [28.84–39.99]; p < 0.001). The SRE group showed greater improvement in all secondary outcome measures (p < 0.001). Conclusions: The study findings suggested that the integration of SRE-assisted overground walking training with routine rehabilitation more effectively enhances lower limb motor function in children with SCP compared to routine rehabilitation alone.

Global developmental delay (GDD) is a prevalent neurodevelopmental disorder marked by cognitive impairment. Most children with GDD develop intellectual disability (ID) after the age of 5 years, impacting their quality of life, physical abilities, and social functioning. With an overall prevalence rate of approximately 1%,^1-3 ID ranks among the top 10 major global diseases.⁴ Hence, early and accurate etiologic diagnosis, coupled with targeted treatment, becomes particularly crucial for enhancing children’s health and alleviating the national health care burden.^5,6

MicroRNA-9 (miR-9) has been shown to promote the differentiation of bone marrow mesenchymal stem cells into neuronal cells, but the precise mechanism is unclear. Our previous study confirmed that increased autophagic activity improved the efficiency of neuronal differentiation in bone marrow mesenchymal stem cells. Accumulating evidence reveals that miRNAs adjust the autophagic pathways. This study used miR-9-1 lentiviral vector and miR-9-1 inhibitor to modulate the expression level of miR-9. Autophagic activity and neuronal differentiation were measured by the number of light chain-3 (LC3)-positive dots, the ratio of LC3-II/LC3, and the expression levels of the neuronal markers enolase and microtubule-associated protein 2. Results showed that LC3-positive dots, the ratio of LC3-II/LC3, and expression of neuron specific enolase and microtubule-associated protein 2 increased in the miR-9 ⁺ group. The above results suggest that autophagic activity increased and bone marrow mesenchymal stem cells were prone to differentiate into neuronal cells when miR-9 was overexpressed, demonstrating that miR-9 can promote neuronal differentiation by increasing autophagic activity.

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been suggested as being associated with cerebral palsy (CP) but the evidence is uncertain. The purpose of this study was to investigate whether MTHFR gene polymorphisms contribute to the development of CP in Chinese infants. For this study, 169 health controls and 159 infants with CP including 43 cases also suffering from mental retardation (MR) were recruited. Genomic DNA was prepared from venous blood and all five single nucleotide polymorphisms in MTHFR (rs4846049, rs1476413, rs1801131, rs1801133 and rs9651118) were genotyped using TaqMan technology. There were no significant differences in allele or genotype frequencies between the CP patients and controls at any of the five genetic polymorphisms. Subgroup analysis found statistically significant difference in allele and genotype frequencies between cases with both CP and MR (CP + MR) compared with both CP-only cases and controls at rs4846049, rs1476413 and rs1801131. The frequencies of the T alleles of rs4846049, rs1476413 and the G allele of rs1801131 were greater in the CP + MR patients than in the CP-only patients and controls. This study provides the first evidence pointing to a MTHFR gene polymorphism as a potential risk factor for CP combined with MR.