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The United Nations convention on rare diseases—A framework for research prioritization

Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research

Content Validation of the Communication Inventory Disability–Observer Reported CID-OR

CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.

Funding to support research into the impact of standing wheelchairs

The Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne

Health of mothers of children with intellectual disability or autism spectrum disorder: a review of the literature

The deficits associated with intellectual disability (ID) and autism spectrum disorder (ASD)place a burden on their co-residing families which may impact...

Maternal mental health and risk of child protection involvement: Mental health diagnoses associated with increased risk

This WA data linkage study aims to assess whether maternal mental health problems are associated with worse child development outcomes, children’s safety and...

The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

The objective of this study is to compare the time trend of reported diagnoses of autism spectrum disorder, hyperkinetic disorder, Tourette's syndrome, and...

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Bone mass and density are low in females with Rett syndrome.

Experience of gastrostomy using a quality care framework: The example of rett syndrome

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome