OBJECTIVE Ataxia-telangiectasia (AT) is a rare, devastating neurodegenerative disease presenting with early-onset ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and proneness to cancer. In a previous phase 2 study, we showed that 6 monthly infusions of autologous erythrocytes loaded with dexamethasone (EryDex; EryDel, Urbino, Italy) were effective in improving neurol...

BACKGROUND Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that lacks adequate screening tools, often delaying diagnosis and therapeutic interventions. Despite a substantial genetic component, no single gene variant accounts for >1 % of ASD incidence. Epigenetic mechanisms that include microRNAs (miRNAs) may contribute to the ASD phenotype by altering networks of neurodev...

One of the consequences of genetic impairments in early childhood is their long-term effect on children's developmental skills in communication, learning, and adaptive behaviors. Functional assessment provides families and clinicians with a common language for describing a child's strengths and limitations in self-care (feeding, dressing, grooming, bathing, continence), mobility, and communicat...

The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent ...

AIM To evaluate the characteristics that are associated with successful transition to school outcomes in preschool aged children with autism. METHODS Twenty-one participants transitioning from an early intervention program were assessed at two time points; at the end of their preschool placement and approximately 5 mo later following their transition to school. Child characteristics were asse...

We explored sex differences in diagnostic categories, clinical symptoms and adaptive behavior of persons with autism spectrum disorders, as well as sex-specific correlations of clinical and adaptive caracteristics. The study involved 108 patients (83 males, 6.73 ± 4.33 years old) diagnosed with autism spectrum disorders (ASD). Assessment included ADI-R and Vineland Adaptive Behavior Scale II. M...

Background A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general pop...

the relationship between motor skills and other aspects of personality, such as self-concept, social and emotional behavior, proposes the necessity of working on motor skills and activities. investigation of the social abilities seems beneficial for whom with the special needs. the current study investigated the influence of yoga rhythmic movements on social interactions of children with mental...

DISCUSS: Group Intensive Family Training (GIFT) used a preschool-like dynamic, where parents and their children with autism came in to a 3 hour per day, 5 days per week program to learn skills to increase their child’s motivation. Such advances were made using clear instructions, successive conditional discriminations, and self-management skills. Seventy-two parent-child dyads entered the progr...

BACKGROUND Polybrominated diphenyl ethers (PBDEs) are flame retardants used widely and in increasing amounts in the U.S. over the last few decades. PBDEs and their metabolites cross the placenta and studies in rodents demonstrate neurodevelopmental toxicity from prenatal exposures. PBDE exposures occur both via breastfeeding and hand-to-mouth activities in small children. METHODS Participants...