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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.
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.
Past research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports.
Researchers do not know much about what autistic adults, parents and professionals think about support goals for young autistic children. People's views of support goals might also be influenced by their beliefs about early support more generally. This survey involved 87 autistic adults, 159 parents of autistic children and 80 clinical professionals living in New Zealand and Australia.
This study examined whether parent-reported atypical development in their child's first year was associated with age of diagnosis and age when parents first needed to consult a specialist about their child's development.
The diagnostic experiences of autistic adults in New Zealand have not been investigated and little is known globally about autistic adults' satisfaction with the autism diagnostic process. This study describes the diagnostic experiences of 70 autistic adults living in New Zealand and explores how these experiences are related to satisfaction during three stages of the diagnostic process. The results show that autistic adults were reasonably satisfied with the early query and diagnostic assessment stages, but were dissatisfied with the post-diagnostic support stage, with significant unmet needs. Dissatisfaction during the post-diagnostic support stage was also related to satisfaction during previous stages and poor coordination of supports. Suggestions are made on how to improve the autism diagnostic pathway for autistic adults in New Zealand.
The current study aimed to provide a comprehensive appraisal of the current evidence on the effectiveness of Pivotal Response Training (PRT) for individuals with autism spectrum disorder (ASD) and to explore predictors of treatment response.
Evidence suggests that individuals with autism spectrum disorder have increased rates of co-occurring psychosis and/or bipolar disorder. Considering the peak age of onset for psychosis and bipolar disorder occurs in adulthood, we investigated the co-occurrence of these disorders in adults with autism.
Emerging research suggests that seeking an autism diagnosis as an adult is usually difficult and time-consuming but brings relief once a diagnosis is made. This study explored the experience of the pathway to an autism diagnosis during adulthood for adults living in Australia.