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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.
The aim of this study was to investigate the influence of children's autism characteristics, sensory profiles and feeding difficulties on caregiver-reported impact at mealtimes.
Early supports to enhance social development in children with autism are widely promoted. While oxytocin has a crucial role in mammalian social development, its potential role as a medication to enhance social development in humans remains unclear.
Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.
While theory supports bidirectional effects between caregiver sensitivity and language use, and infant language acquisition-both caregiver-to-infant and also infant-to-caregiver effects-empirical research has chiefly explored the former unidirectional path. In the context of infants showing early signs of autism, we investigated prospective bidirectional associations with 6-min free-play interaction samples collected for 103 caregivers and their infants (mean age 12-months; and followed up 6-months later).
With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs.
This population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.
Children diagnosed with autism spectrum disorder may be at higher likelihood of experiencing poorer oral health and difficulties accessing dental health care. However, identifying which children on the autism spectrum may be more vulnerable to experiencing dental care difficulties is still unknown.
Autism and attention-deficit/hyperactivity disorder (ADHD) often co-occur. This survey of 288 New Zealand parents of children diagnosed with autism, ADHD, or both conditions, examined the relations between age of diagnosis and early atypical development, the age specialist consultation was needed and types of specialists seen.
Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.