Association of Gene Polymorphic Variants with the Clinical Phenotype of Autism Spectrum Disorder.

: The gene encodes chromodomain helicase DNA-binding protein 8 (CHD8), which is a transcriptional regulator involved in neuron development, myelination, and synaptogenesis. Some 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 gene polymorphisms with the occurrence and clinical phenotype of autism spectrum disorder (ASD).

Postural control before and after transitional locomotor tasks in children on the autism spectrum: A case-control study.

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.

Modulation of center-of-pressure signal in children on the autism spectrum: A case-control study.

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.

A Dialogue in the Medical Perspective-Body Mass and Nutritional Status Disorders during the Development Period.

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.

Eating Behaviors of Children with Autism-Pilot Study, Part II.

Unlabelled: 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.

Eating Behaviors of Children with Autism-Pilot Study.

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.

Rambling-trembling analysis of postural control in children aged 3-6 years diagnosed with developmental delay during infancy.

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.

Preconception Risk Factors for Autism Spectrum Disorder - A Pilot Study.

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.

Toxin profile of fecal Clostridium perfringens strains isolated from children with autism spectrum disorders.

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.

Step-Initiation Deficits in Children with Faulty Posture Diagnosed with Neurodevelopmental Disorders during Infancy.

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.

Polymorphism of ABCB1/MDR1 C3435T in children and adolescents with partial epilepsy is due to different criteria for drug resistance - preliminary results.

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.

CYP3A5*3 and C3435T MDR1 polymorphisms in prognostication of drug-resistant epilepsy in children and adolescents.

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.

Headaches as somatoform disorders in children and adolescents.

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.

Fecal lactoferrin and Clostridium spp. in stools of autistic children.

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.

[Intestinal microflora of autistic children].

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.

Platelet and intestinal 5-HT2A receptor mRNA in autistic spectrum disorders - results of a pilot study.

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.

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

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.

The cerebral form of toxocarosis in a seven-year-old patient.

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.