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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

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. 

Investigating the impact of autistic children's feeding difficulties on caregivers

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.

Predictors of Change in Wellbeing and Mental Health of Parents of Autistic Pre-Schoolers

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.

Community perspectives on the appropriateness and importance of support goals for young autistic children

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.

Characterizing restricted and unusual interests in autistic youth

A broad range of interests characterized by unusual content and/or intensity, labeled as circumscribed interests are a core diagnostic feature of autism. Recent evidence suggests that a distinction can be drawn between interests that, although characterized by unusually high intensity and/or inflexibility, are otherwise common in terms of their content (e.g., an interest in movies or animals), labeled as restricted interests and interests that are generally not salient outside of autism (e.g., an interest in traffic lights or categorization), labeled as unusual interests.

Identification of subgroups of children in the Australian Autism Biobank using latent class analysis

The identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations. Few previous studies have considered medical comorbidity alongside behavioural, cognitive, and psychiatric data in subgrouping analyses.

Profiles of circumscribed interests in autistic youth

Circumscribed interests encompass a range of different interests and related behaviors that can be characterized by either a high intensity but otherwise usual topic [referred to as restricted interests] or by a focus on topics that are not salient outside of autism [referred to as unusual interests].

The relationship between pitch contours in infant-directed speech and early signs of autism in infancy

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.

Reliability of the Commonly Used and Newly-Developed Autism Measures

The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments.

Parent-child interaction and developmental outcomes in children with typical and elevated likelihood of autism

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.