Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

How autistic women are aware of their body and take care of their health? Focus on menstruation cycles and gynecological care.

Objective: The combination of femininity and inequality is an increasingly studied in the field of social medicine, even more if the girls or women in question experience conditions of disability or neurodivergence. The onset of menstruation, menarche, constitutes a significant and transformative event in women's lives comprising a true and proper watershed in mental and reproductive health and sexual welfare. The onset of menstruation has a profound effect not just for girls but, in the case of disabled girls, for the whole family.

Parents-children co-regulation as therapeutic variable and target in autism spectrum disorders. From observation of drive to need of cooperative parent-mediated therapy.

Autism spectrum disorders (ASDs) belong to the category of neurodevelopmental disorders. ASD emerges in early childhood and involves deficits in communication, language, behavioural inflexibility and fixity, and sensorial neurodivergent perception. ASDs have a biological pathogenesis related to genetic and epigenetic factors.

Efficacy and Safety of Q10 Ubiquinol With Vitamins B and E in Neurodevelopmental Disorders: A Retrospective Chart Review.

Increased oxidative stress and defective mitochondrial functioning are shared features among many brain disorders. The aim of this study was to verify retrospectively the clinical efficacy and safety of a metabolic support therapy with Q10 ubiquinol, vitamin E and complex-B vitamins in various neurodevelopmental disorders. This retrospective chart review study included 59 patients (mean age 10.

Stereotypies in the Autism Spectrum Disorder: Can We Rely on an Ethological Model?

Background: Stereotypic behaviour can be defined as a clear behavioural pattern where a specific function or target cannot be identified, although it delays on time. Nonetheless, repetitive and stereotypical behaviours play a key role in both animal and human behaviour. Similar behaviours are observed across species, in typical human developmental phases, and in some neuropsychiatric conditions, such as Autism Spectrum Disorder (ASD) and Intellectual Disability.

Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift.

The wide spectrum of unique needs and strengths of Autism Spectrum Disorders (ASD) is a challenge for the worldwide healthcare system. With the plethora of information from research, a common thread is required to conceptualize an exhaustive pathogenetic paradigm. The epidemiological and clinical findings in ASD cannot be explained by the traditional linear genetic model, hence the need to move towards a more fluid conception, integrating genetics, environment, and epigenetics as a whole.

Autism, epilepsy, and synaptopathies: a not rare association.

Autism spectrum disorders (ASD) are neurodevelopmental disorders typically diagnosed in childhood, characterized by core social dysfunction, rigid and repetitive behaviors, restricted interests, and abnormal sensorial sensitivity. ASD belong to multifactorial diseases: both genetic and environmental factors have been considered as potential risk factors for their onset. ASD are often associated with neurological conditions: the co-occurrence of epilepsy is well documented and there is also evidence of a higher prevalence of EEG abnormalities with 4-86% of individuals with ASD presenting epileptiform or not epileptiform EEG abnormalities.