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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.
Parenting is a rewarding experience but is not without its challenges. Parents of Autistic children face additional challenges, and as a result can experience lower levels of wellbeing and more mental health problems (i.e., depression, anxiety, stress). Previous studies have identified concurrent correlates of wellbeing and mental health.
Mother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development.
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.
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.
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).
The study aimed to evaluate the experiences of participants involved in co-production to develop a National Framework for assessing children's functional strengths and support needs. The National Framework was developed to guide professionals when working with children aged 0-12 years, including children who do and do not have one or more diagnosed condition(s), and their families in Australia and inform good policy across health, education, disability, and community support sectors.
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.