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Research

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. 

Research

Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.

Research

Professional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals.

Research

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.

Research

An empirically based understanding of the factor structure of the restricted and repetitive behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand the correlates and mechanisms underpinning RRB and for measurement development. Therefore, this study aimed to conduct a systematic review and meta-analysis of RRB factor analytic studies.

Research

Early parent-child interactions have a critical impact on the developmental outcomes of the child. It has been reported that infants with a family history of autism and their parents may engage in different patterns of behaviours during interaction compared to those without a family history of autism. This study investigated the association of parent-child interactions with child developmental outcomes of those with typical and elevated likelihood of autism.

Research

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.

Research

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.

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Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.

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The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.