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Dental admissions in children under two years - A total-population investigation

This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.

"The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children

Children with Developmental Coordination Disorder (DCD) often have difficulties running.

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables

Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism

In this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features

Health care utilization and costs for children and adults with duchenne muscular dystrophy

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.

Italian Version of QI-Disability for QoL Evaluation in Children and Adolescents with Intellectual Disability: Translation and Cross-Cultural Adaptation Process

Children and adolescents with Intellectual Disability experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability into Italian.

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

Developmental 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.

Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability

People with intellectual disability face significant barriers to accessing genetic healthcare, including during appointments. Many adults with intellectual disability are denied opportunities to discuss genetic testing that could improve their health and well-being.

Australian children living with rare diseases: health service use and barriers to accessing care

Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.