Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

In this article, we present a case study of a five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The girl was diagnosed using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) instruments and met the criteria for autism spectrum disorder. Intellectual functioning was in the markedly below-average range, as indicated by the Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, and her level of adaptive functioning was significantly reduced.

The relationship between serum thyroid hormone levels and symptoms severity in young children with autism.

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impaired social interaction and communication, restrictive and repetitive patterns of behavior, interests and activities. The aim of this study was to determine the postnatal levels of thyroid hor-mones and investigate their association with the severity of ASD symptoms. The study included 56 children (46 boys and 10 girls) with ASD aged 24-42 months.

Examining Erythrocytes as Potential Blood Biomarkers for Autism Spectrum Disorder: Their Relationship to Symptom Severity and Adaptive Behavior.

Background: Multiple research teams have documented various abnormalities in erythrocyte properties in children with autism spectrum disorder (ASD) compared with neurotypical individuals. Reduced erythrocyte deformability, a crucial factor for microcirculation and oxygen delivery, may affect brain function. Other key factors like nitric oxide (NO) and Na,K-ATPase-regulated cation transport also play roles in both erythrocyte deformability and ASD, suggesting a possible relationship between erythrocyte parameters and autism severity.

Fingerprint patterns in relation to an altered neurodevelopment in patients with autism spectrum disorder.

Dermatoglyphic patterns are permanently established and matured before the 24th week of gestation. Their frequencies and localization might be a good indicator of developmental instability in individuals with an altered neurodevelopment and show potential as biomarkers of autism spectrum disorder (ASD). In this study, fingerprint pattern counts and fluctuating asymmetry in the distribution of patterns are compared between 67 boys diagnosed with ASD (aged 5.

Sleep Problems and 6-Sulfatoxymelatonin as Possible Predictors of Symptom Severity, Adaptive and Maladaptive Behavior in Children with Autism Spectrum Disorder.

In children with autism spectrum disorder (ASD), sleep disturbances are a frequent comorbidity with an adverse effect on their behavior and functioning. It was suggested that melatonin deficit is at least partly responsible for the sleep problems. The study aimed to investigate, in a sample of 56 children with ASD aged 2.

Association between Environmental Tobacco Smoke Exposure and Adaptive Behavior in Individuals with Autism Spectrum Disorder.

The study focuses on current issues of adaptive behavior in individuals with autism spectrum disorder (ASD) and on the possible risk factor of environmental tobacco smoke (ETS). Children examined at the Academic Research Center for Autism (ARCA) in Bratislava were involved in the study. The study sample included 84 children (71 boys) with ASD (average age 5.

The Relationship of Steroid Hormones, Genes Related to Testosterone Metabolism and Behavior in Boys With Autism in Slovakia.

Objective: Purpose of the study was to identify the relationship among actual plasmatic levels of steroid hormones and behavioral manifestations in boys with autism and to assess the genetic contribution to these manifestations.

Methods: 172 boys with autism under 10 years of age and 135 neurotypical boys attended the study. ADI-R and ADOS-2 were used to evaluate the core symptom severities.

Comparing the impact of the first and second wave of COVID-19 lockdown on Slovak families with typically developing children and children with autism spectrum disorder.

A global pandemic caused by a new coronavirus (severe acute respiratory syndrome coronavirus 2) affected everyday lives of all people, including individuals with special needs, such as autism spectrum disorder. The aim of this research was to compare the mental health of families with children with autism spectrum disorder to families with typically developing children, and between the first and the second wave of COVID-19 outbreak in Slovakia. This mainly included symptoms of depression, anxiety, and stress of parents and problem behavior or sleeping difficulties of their children.

Autism spectrum disorder and new perspectives on the reliability of second to fourth digit ratio.

The second to fourth digit ratio (2D:4D) is according to previous studies a likely biomarker for prenatal testosterone exposure and its effect on the human brain. It was found to be linked to autism spectrum disorders (ASD). Recently, 2D:4D raised a lot of questions with regard to its stability and autism-related behaviors.

The acute effect of psychosocial stress on the level of oxidative stress in children.

The effect of chronic stress on oxidative stress (OS) is commonly discussed while the effect of acute stress situation is not fully examined yet. The present study was aimed to analyse whether acute psychosocial strain causes changes in OS and antioxidant status. Unstimulated saliva was collected from 46 healthy prepubertal children during the control and stress day.

Gastrointestinal Symptoms and Feeding Problems and Their Associations with Dietary Interventions, Food Supplement Use, and Behavioral Characteristics in a Sample of Children and Adolescents with Autism Spectrum Disorders.

Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and restricted, stereotyped behavior. Gastrointestinal (GI), nutritional, and feeding problems are often reported in ASD. We investigated the prevalence of GI symptoms, food selectivity, and mealtime difficulties, and their associations with dietary interventions, food supplement use, and behavioral characteristics in a sample involving 247 participants with ASD and 267 controls aged 2-18 years.