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New guidelines a model for better management of rare conditionsNew guidelines a model for better management of rare conditions
Research
The western dietary pattern is prospectively associated with nonalcoholic fatty liver disease in adolescenceIn centrally obese adolescents with NAFLD, a healthy dietary pattern may be protective, whereas a Western dietary pattern may increase the risk.
Research
Experience of primary caregivers in utilising an mHealth application for remote dental screening in preschool childrenThis study aimed to address the acceptance of mHealth applications for a dental screening app that facilitates patient information entry and captures dental photos remotely to assist in caries diagnosis in preschool children in Australia.
Research
Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
Research
Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular DisordersNeuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders.
Research
Infant and Early Childhood SleepSelf-regulatory difficulties in infants (difficulty soothing and sleeping) tells us that the infant may be at risk of developing a range of physical and mental health difficulties in later life.
Research
Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A ProtocolExercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.
Research
The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.
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FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic EncephalopathiesDevelopmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
Research
The association of mobile touch screen device use with parent-child attachment: a systematic reviewMobile touch screen devices (smartphones and tablet computers) have become an integral part of many parents’ and children’s lives, with this interaction linked to physical, mental and social outcomes. Despite the known importance of parent-child attachment, evidence on the association between device use and attachment was yet to be reviewed.