The 677C>T polymorphism within methylenetetrahydrofolate reductase (MTHFR) gene is related to an elevated level of homocysteine. Thus it may be considered as a genetic risk factor in ischemic stroke. Apparently studies of this type of polymorphism in childhood stroke have shown conflicting results. We performed meta-analysis of all the data that are available in relation with MTHFR polymorphism and the risk of ischemic stroke in children. We searched PubMed (last search dated December 2010) using “MTHFR polymorphism”, “ischemic stroke” “child”, “children”, “pediatric stroke” as keywords and reference lists of studies and reviews on the topic. Finally, 15 case–control studies corresponded to the inclusion criteria for meta-analysis. These studies involved the total number of 822 children and adolescents after ischemic stroke and 1,552 control subjects. Fixed or random effects models were used depending on the heterogeneity between the studies. The association between ischemic stroke and 677C>T polymorphism within MTHFR gene was observed in three of the studies. The pooled analysis showed that TT genotype of MTHFR gene is more common in stroke patients than in controls (p = 0.0402, odds ratio = 1.57, 95 % confidence interval 1.02–2.41). The Egger’s test did not reveal presence of a publication bias. The results based on a sizeable group of cases and controls have proved that the 677C>T polymorphism in MTHFR gene is associated with the development of ischemic stroke in children.

Background/Objectives: Children with autism spectrum disorder (ASD) often face challenges in maintaining oral hygiene due to sensory sensitivities, behavioral difficulties, and limited access to specialized dental care. This study aimed to assess the oral hygiene status of children with ASD and compare it with neurotypical peers. Methods: A cross-sectional study was conducted with 74 children with ASD and 74 neurotypical children. Dental exams measured oral hygiene and caries prevalence using the DMFT/dmft, Oral Hygiene Index (OHI), and Sulcus Bleeding Index (SBI). Tooth brushing frequency and dental visits were also recorded. Statistical analysis was performed using the Mann–Whitney U test and Fisher’s exact test. Results: Children with ASD had significantly poorer oral hygiene and higher caries rates compared to controls. Boys with ASD had higher DMFT scores, indicating more caries. Additionally, ASD children brushed their teeth less often and had fewer dental visits. Preventive treatments were underutilized in this group despite a higher need. Conclusions: Children with ASD face notable oral health challenges, including poor hygiene, higher caries prevalence, and limited preventive care. These findings highlight the need for tailored interventions, improved parental education, and specialized dental care strategies for this population.

Background: The CHD8 gene encodes chromodomain helicase DNA-binding protein 8 (CHD8), which is a transcriptional regulator involved in neuron development, myelination, and synaptogenesis. Some CHD8 gene mutations lead to neurodevelopmental syndromes with core symptoms of autism. The aim of this study was to perform an analysis of the family-based association of CHD8 gene polymorphisms with the occurrence and clinical phenotype of autism spectrum disorder (ASD). Methods: We analyzed 210 Caucasian children with ASD and their biological parents. The genotyping of specified polymorphisms, i.e., rs7148741, rs35057134, and rs10467770, was performed using TaqMan-PCR and compared with specific symptoms of ASD. Results: The G allele (rs7148741) was associated with muscle hypotonia as compared with the AA homozygotes. AA homozygosity (rs35057134) predisposed an individual to the use of an incubator, heart rate fluctuations, and the necessity of hospitalization. Moreover, the alleles and genotypes of this polymorphism were characterized by different Apgar scores and distributions. Additionally, CC homozygotes of rs10467770 were more often predisposed to the use of an incubator and hospitalization relative to T allele carriers. The average Apgar score was higher in TT homozygotes. Conclusions: Polymorphisms of the CHD8 gene may determine specific clinical phenotypes of ASD.

Objectives: To analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the DYNC1H1 gene and the occurrence of autism spectrum disorder as well as the clinical phenotype of affected individuals. Methods: This family-based study included 206 children diagnosed with ASD and 364 of their biological parents. To examine the potential association between three polymorphisms of the DYNC1H1 gene and ASD occurrence, a transmission disequilibrium test was performed. Additionally, associations between the studied polymorphisms and the clinical phenotype of affected individuals were analyzed using the χ² test. Results: None of the polymorphisms studied showed an association with ASD in the overall patient group. However, an association between the rs3818188 polymorphic variant and ASD was observed in a subgroup of girls, with the G allele being transmitted more than 2.5 times as frequently as the A allele. Moreover, several associations between the tested variants and features related to neuromotor development, communication, and social skills were observed in univariate analysis. However, after correction for multiple comparisons, only the association between the rs2403015 polymorphism and transient increase in muscle tone during infancy remained statistically significant. Conclusions: This study demonstrated an association between the rs3818188 polymorphism and ASD in a subgroup of girls. Additionally, the rs2403015 polymorphism was found to be associated with transient increase in muscle tone during infancy.

Background/Objectives: The objective was to establish whether particular SPD risk factors are correlated with particular SPD patterns and whether these factors affect the motor development of children Methods: The study procedures included medical examinations, conducted by a pediatrician/child neurologist, and evaluations, performed by a physiotherapist/sensory integration specialist, which were performed on the study group. Results: The study included 156 Caucasian children with SPD aged 3 to 12 years. The results of this study demonstrate that serological conflict shows correlations with taste, smell, and visual hyposensitivity. Fetal heart rate fluctuations, indicated in CTG, are correlated with tactile hypersensitivity and vestibular hypersensitivity, and cesarean delivery is correlated with auditory hyposensitivity. Incubator care is correlated with tactile hypersensitivity and auditory hyposensitivity. Intrauterine infections are correlated with vestibular hypersensitivity. Delayed motor development is correlated with bed rest in the third trimester of pregnancy, intrauterine infections, and incubator care. Conclusions: We conclude that children’s development must be monitored scrupulously in particular areas of sensory processing with regard to any of the abovementioned risk factors occurring in affected children. It is important to pay special attention to intrauterine infections, bed regimes in the third trimester of pregnancy, and incubator care, because these factors may have a negative impact on motor development.

Padaczka w wybranych chorobach neurometabolicznych - Justyna Paprocka, Ewa Emich-Widera