Search
An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
In this review, we comprehensively evaluate the rationale for oxytocin as a therapeutic, evaluating evidence from various various sources.
We examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder.
This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria
Investigate whether impairments in the ability to execute flexible goal-directed actions may be an underlying feature in ASD contributing to these symptoms
This commentary highlights inconsistent findings that undermine the extreme male brain theory autism but data may not present an adequate test of the hypothesis
Prevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors
This trial will determine the effectiveness of the TOBY App as a therapeutic complement to other early interventions children with ASD receive
Restricted and repetitive behaviours constitute a core symptom domain of autism spectrum disorder
We examine the level of comorbidity found between Autism spectrum disorder and Schizophrenia spectrum disorders at a clinical and trait level