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Autism spectrum disorder (ASD) is a neurodevelopmental disorder of multifactorial etiology. Preconception risk factors are still poorly understood. A survey on preconception risk factors for ASD was conducted among parents of 121 ASD patients aged 3–12 years and parents of 100 healthy children aged 3–12 years. The exclusion criteria were as follows: the presence of associated problems such as intellectual disability, epilepsy or other genetic and neurological diseases. Thirteen parameters were considered, a few among which were conception problems, conception with assisted reproductive techniques, the use and duration of oral contraception, the number of previous pregnancies and miscarriages, time since the previous pregnancy (in months), the history of mental illness in the family (including ASD), other chronic diseases in the mother or father and maternal and paternal treatment in specialist outpatient clinics. Three factors statistically significantly increased the risk of developing ASD: mental illness in the mother/mother’s family (35.54% vs. 16.0%, p = 0.0002), maternal thyroid disease (16.67% vs. 5.0%, p = 0.009) and maternal oral contraception (46.28% vs. 29.0%, p = 0.01). Children of mothers with thyroid disorders or with mental illness in relatives should be closely monitored for ASD. Further studies are warranted to assess a potential effect of oral contraception on the development of offspring.

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.

Background: Instrumented measurements of postural control provide a more accurate insight into the motor development of children with autism. This study aimed to identify postural control deficits in autistic children during quiet standing before and after transient locomotor task. It was hypothesized that the parameters that characterize the trajectory of center of foot pressure (COP) displacement would be higher in autistic children compared to typically developing children., Methods: Sixteen autistic children aged 6-10 but without a comorbidity diagnosis, were enrolled in the study group. The control group comprised 16 typically developing peers. The assessment of the transitional task comprised four different conditions: unperturbed and perturbed transition, stepping up, and stepping down tasks. Analysis of the COP signal was carried out for three distinct phases, i.e., phase 1 - quiet standing before step initiation, phase 2 - transit, and phase 3 - quiet standing until measurement completion., Findings: The two-way ANOVA with a 2 × 4 factorial design (group × testing condition) revealed a group effect on all posturographic variables in the antero-posterior and medio-lateral directions of phase 1 and in the antero-posterior direction of phase 3. The Bonferroni post-hoc test showed the means of all those variables were significantly higher for the autistic than for typically developing children. Group allocation also had an effect on the time of transit and step length, which turned out to be significantly longer in autistic children compared to healthy peers., Interpretation: Autistic children show increased postural sway before and after transitional locomotor tasks compared to typically developing children. The trial was prospectively registered in the Australian and New Zealand Clinical Trials Registry (no. ACTRN12621001113842; date registered: 23.08.2021)., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Background: Proper postural and motor control plays a fundamental role in the child's ontogenetic development. So far, the postural control in children on the autism spectrum has mainly been assessed with standard posturographic measurements of center of pressure (COP) displacements., Research Question: What are the differences in postural control between autistic and typically developing children?, Methods: The study group comprised 16 autistic children aged 6-10 years, identified by a psychiatrist. The control group consisted of 16 typically developing children aged 6-10 years with no posture deformities, no pervasive developmental disorder and no history of postural control or movement deficits. The data were collected during quiet standing with eyes open using a force plate. To gain a better insight into the postural control processes, the rambling-trembling and sample entropy analyses were used in COP data processing., Results: Compared to typically developing children, those with autism spectrum had significantly higher values of COP and rambling trajectory parameters in the antero-posterior direction during quiet standing. The variables of the trembling trajectory did not differ significantly between the groups. The autistic children had significantly lower values of sample entropy in the antero-posterior direction compared to typically developing children., Significance: More advanced measures of COP displacements including the rambling-trembling method and sample entropy revealed differences in postural control between autistic and typically developing children. These methods may therefore contribute to functional assessment of postural control deficits in children on the autism spectrum., Competing Interests: Declaration of Competing Interest The authors have declared that no competing interests exist., (Copyright © 2023 Elsevier B.V. All rights reserved.)

The aim of the study was to perform family-based association analysis of PRKCB1, CBLN1 and KCNMB4 gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the rs198198 polymorphism of the PRKCB1 gene was more often transmitted to affected children in the male subgroup (p = 0.010). Additionally, the T carrier state was significantly associated with hypotonia (p = 0.048). In the female subgroup, the T-allele carriers more often showed more mobile/vital behavior (p = 0.046). In conclusion, our study showed that the rs198198 of the PRKCB1 gene may be associated with ASD in men and with some features characteristic for the disorder., (© 2021. The Author(s).)

Eating disorders among children and youth are a serious social problem. The time of development is the starting point in shaping eating patterns. Proper nutrition provides the basis for psychophysical development. A knowledgeable pediatrician can improve society's health by engaging parents and, later, the child or youth. We offer knowledge on the nutrition basics and the commonly available tools to assess the nutritional status. We will discuss the characteristics of eating and body mass disorders in developing children. We will provide information on the warning signals of eating and body mass disorders and recommend prophylaxis. The reader will be familiarized with the motivational dialogue as an effective control tool for the discussed health issues.

Autism spectrum disorder is characterized by social communication deficit and non-normative behavior. The people with autism often experience troubles with feeding. The purpose of this study was to conduct evaluation of the feeding and eating behaviors among children with autism., Patients and Methods: The study group included 41 high-functioning autistic children. The control group consisted of 34 children without the ASD. The questionnaire was used to assess the nutritional status., Results: The children with ASD fuss during mealtimes more frequently, they require entertaining and diverting their attention, they are fed by parents, and they consume their meals away from the table. The significant difference found in the use of utensils and food selectivity works to the disadvantage of the Study Group., Conclusions: The food selectivity occurs significantly more frequently among children with ASD. The feeding and eating problems should be considered on a wider scale. The cooperation of the multidisciplinary and the parents teams should be proposed in the ASD patients care.

Autism Spectrum Disorder (ASD) is the most recognized neuropsychiatric disorder of childhood. Comorbid conditions (such as feeding disorders) are more common among people with autism than among the general population. The most frequent somatic disorders in autistic children include the gastrointestinal disorders observed in 46-91% of patients. The purpose of this study was the evaluation of the nutrition of children with autism, with particular emphasis placed on feeding in the first year of life, in comparison to the group of healthy peers. Participants included 75 Caucasian children (41 children diagnosed with pure autism, and the control group consisting of 34 children without autistic traits). The analysis was performed based on a questionnaire of own design with the first part devoted to the eating practices of the early infancy. Results: Autistic children, as compared to the healthy peers, presented a shortened time of breastfeeding (the children fell asleep at the breast) ( p = 0.04), a delayed introduction of dairy products ( p = 0.001), the need of more trials to introduce new foods ( p = 0.006), a delayed introduction of foods with solid and lumpy structure ( p = 0.004), a longer duration of bottle feeding ( p = 0.005), delayed attempts to eating using own hands ( p = 0.006) and needed a greater support of parents to divert their attention from food during eating ( p = 0.05). Conclusions: 1. The dietary problems are more common among children with the autism spectrum disorder than among the population of healthy children, during the first year of life from the time of introducing the complementary foods. 2. The autistic children experience difficulties with eating and require their parents' additional involvement significantly more often than their healthy peers.

Background: Preschool age is fundamental for the development of gross motor skills. Timely detection of postural stability deficits using objective methods would facilitate early implementation of therapeutic strategies., Research Question: What are the age- and gender-related differences in postural control between preschool children diagnosed with developmental delay in their first year of life and children with typical development?, Methods: The study group consisted of 59 children diagnosed with developmental delay during infancy, who had received physiotherapy in the first year of their life for disorders of postural control and prone locomotion as well as abnormal distribution and magnitude of postural tone. The control group comprised 66 nursery school children with typical development and no history of postural control or movement deficits and no physiotherapy interventions in the first year of their life. The study and control groups were subdivided into four subgroups based on age (3-4 years, 5-6 years) and gender (boys, girls). The data were collected during quiet standing using a force plate. Three 30-second trials were recorded. Stabilographic recordings were analysed using the rambling-trembling approach., Results: Three-way ANOVA revealed a gender effect on all measured variables (p < 0.05). The Tukey HSD (honest significant difference) post-hoc test showed that some of the values of sway range and mean velocity of COP, rambling and trembling in sagittal and frontal plane were significantly greater in control boys aged 3-4 years compared to other subgroups (p < 0.05)., Significance: Long-term postural control monitoring by a pediatrician and/or physiotherapist seems justified and not only in children with a history of infantile developmental delay but also in their healthy peers, especially boys., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Infectious factors are taken into consideration in pathophysiology of autism spectrum disorders (ASD). ASD patients often suffer from gastrointestinal disorders. The intestinal microbiota of autistic patients significantly differs from that in healthy individuals. The aim of the study was to compare the profile of toxins produced by C. perfringens strains isolated from feces of children with ASD, with healthy individuals and obese subjects. This study included 111 strains of C. perfringens: 49 isolates from 29 children with ASD, 30 - from 17 healthy individuals and 32 - from 24 young obese subjects. Alpha, beta, beta2, epsilon, iota and enterotoxin genes were detected using appropriate PCRs. The alpha toxin gene (cpa) was present in all 111 examined strains (100%). The beta2 gene (cpb2) was detected in 45/49 strains (91.8%) isolated from children with ASD, 17/30 (56.7%) isolates from healthy subjects, and 12 of 32 (37.5%) isolates from obese subjects. C. perfringens strains with cpb2 gene were detected in 27/29 ASD patients (93.1%), 10/17 healthy subjects (58.8%) and 11/24 (45.8%) obese subjects. Beta2 toxin encoding cpb2 gene was significantly more common in strains isolated from ASD patients, with no significant difference between control subjects regardless of diet. Further research to explain observed phenomena and pathomechanism of beta2 toxin is required., (Copyright © 2018. Published by Elsevier Ltd.)

Background: Early detection of movement deficits during step initiation will facilitate the selection of the optimal physiotherapy management strategy. The main aim of the study was to assess potential differences in step initiation between 5- and 6-year-old children with faulty posture who had been diagnosed with neurodevelopmental disorders during infancy and healthy children., Methods: The experimental group consisted of 19 children aged 5-6 years with faulty posture, who had been diagnosed with neurodevelopmental disorders during infancy and were given physiotherapy in the first year of their lives. The control group comprised 19 nursery school children aged 5-6 years with no postural defects, no history of postural control or movement deficits, and no physiotherapy interventions in the first year of their lives. Step initiation was performed on force platforms under various conditions, i.e., with and without an obstacle, stepping up onto a platform placed at a higher level, stepping down onto a platform placed on a lower level. The recording of center of foot pressure (COP) displacements was divided into three phases: phase 1 (P1)-quiet standing before step initiation, phase 2 (P2)-transit, phase 3 (P3)-quiet standing until measurement completion., Results: The Tukey post hoc test showed that the means of sway range (raCOP) and mean velocity (vCOP) in sagittal ( AP ) plane for phase 1 and vCOP in frontal ( ML ) plane for phase 3 registered in the step-up trial were significantly higher ( p  < 0.05) in children with faulty posture compared to children with typical development. P1vCOP ML , P3vCOP AP , P3raCOP ML , and P3vCOP ML of the step-down trial were also significantly higher in children with faulty posture ( p  < 0.05)., Conclusion: Inclusion of functional movement exercises (stair-walking tasks) in physiotherapy interventions for children with postural defects seems well justified.The trial was registered in the Australian and New Zealand Clinical Trials Registry (no. ACTRN12617001068358).

Background: The diagnosis of "drug resistance" in epilepsy can be defined and interpreted in various ways. This may be due to discrepant definitions of drug resistance to pharmacotherapy. The aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy., Material and Methods: Evaluation of C3435T polymorphism of MDR1/ABCB1 gene was conducted on a group of 82 white children and young adolescents up to 18 years old. While qualifying the patients to the group of sensitive or drug resistant, the following 4 definitions of drug resistance were applied: the ILAE's, Appleton's, Siddiqui's, and Berg's., Results: A detailed analysis of genotypes of the MDR1 gene did not show any significant discrepancies between the groups of patients resistant and sensitive to antiepileptic drugs (AEDs) in 4 consecutive comparisons taking into consideration various criteria of sensitivity and resistance to pharmacotherapy., Conclusions: The obtained results clearly confirm the lack of a connection between the occurrence of drug-resistant epilepsy and C435T polymorphism of the MDR1 gene irrespective of the definition of drug resistance applied to the patient.

Drug-resistant epilepsies still remain one of the most profound problems of contemporary epileptology. Several mechanisms of drug resistance are possible; among them, genetic factors have a prominent place. Much importance is attached to genes, which encode enzymes that metabolize antiepileptic drugs CYP 3A, which belong to the family of cytochromes P450 and the genome of multidrug resistance, such as multidrug resistance 1 (MDR1) that expresses P-glycoprotein (P-gp), a drug transporter protein. The aim of the study was to assess the relation between polymorphism of gene CYP3A5 and polymorphism C3435T of MDR1 gene with the occurrence of focal, drug-resistant epilepsy in children and youths up to 18 years of age. The study comprised 85 patients, and their age range was from 33 months to 18 years of age, suffering from epilepsy, partly responding well to treatment, partly drug resistant. The polymorphism of both genes has been analysed using the PCR-RFLP method. The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. The results of our research do not confirm the prognostic value of the polymorphisms examined in the prognostication of drug resistance in epilepsies.

Somatoform disorders are often the main cause for seeking professional advice and performing a number of specialist checks. The aim of the study was to determine the frequency of somatoform disorders in the form of headaches in children and adolescents neurologically diagnosed and the risk factors thereof. Analysis of the biological and situational risk factors were established. Somatoform disorders were diagnosed in 27 out of 276 children with headaches. We concluded that in the differential diagnosis of headaches, somatoform headaches should not be omitted as every 10(th) patient in the developmental age diagnosed on the neurological ward because of headache shows signs of somatoform headaches. In diagnostically difficult cases it is recommended that analysis of biological and situational risk factors be performed with special attention paid to chronic disease of the patient and/or in his immediate family, the patient's psychological disorders and dysfunctional or low social status families. The creation of separate criteria for somatoform disorders of the developmental age should be considered.

Stools from autistic and healthy children were studied for fecal lactoferrin, Clostridium difficile toxins, Clostridium perfringens enterotoxin and cultured for Clostridium spp. Elevated level of FLA was demonstrated in 24.4% stools, all from boys (31.25%). No toxins were detected. Clostridium spp. was isolated with similar frequency from all samples. C. perfringens were isolated significantly often from the autistic stools, intermediate sensitive strains to penicillin 19%, to clindamycin 11.3%, and to metronidazole 7.5% were detected. Further studies on fecal microflora and inflammatory mediators, with larger groups of patients, are required in order to explain their role in neurological deficits., (Copyright © 2010 Elsevier Ltd. All rights reserved.)

Autistic behavior is often accompanied by numerous disturbing symptoms on the part of gastrointestinal system, such as abdominal pain, constipation or diarrhea. These problems are often connected with deregulation of physiological microflora in intestine. The aim of this study was to determine differences in intestinal microflora of autistic and healthy children. Strains of Clostridium spp. and enterococci were isolated more frequently from stool samples of autistic children and rarely lactobacilli. Quantitative differences were observed maliny among staphylococci, Candida spp. and Clostridium perfringens. Monitoring and stabilization of intestinal microflora and knowledge about role of particular strains in etiology of autistic disorders can increase the chances for appropriate therapy.

The etiology and pathogenesis of autistic spectrum disorders (ASD) are still unknown. Platelet hyperserotonemia has been detected in 25-60% of autistic children. Higher incidence of gastrointestinal problems in people with autism is observed. The aim was compare the expression of platelet 5-HT(2A)r mRNA in autistic and non autistic groups. In a subgroup of patients with gastrointestinal problems an upper gastrointestinal tract endoscopy was performed and additionally the expression of 5-HT(2A) receptor mRNA in the duodenum was assessed. The examination was conducted in 79 children - 51 with ASD and 28 without autistic traits. Statistically significant differences between the study and control groups were proven in gastrointestinal problems. The analyses reveal a significantly higher level of 5-HT(2A)r mRNA in platelets of the study group patients, which could suggest serotonin system dysregulation.

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. The authors present 3 patients with proven molecular diagnosis of PKAN, in whom 2 novel mutations of PANK2 gene have been identified.

Introduction: Toxocarosis is a consequence of human infection by Toxocara canis larvae. There are symptomatic (visceral, ocular) and asymptomatic courses of toxocarosis. The cerebral form is very rare., Case Report: We present a seven-year-old patient who developed a cerebral form of toxocarosis. She demonstrated focal neurological symptoms (epilepsy) confirmed by neuro-imaging and histopathological examinations. A positive test for toxocarosis essentially completed the other outcomes. On the basis of the clinical picture and the conducted tests a diagnosis of a cerebral form of toxocarosis was established. Mebendazole was applied in treatment.