Research

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

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Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome. ...

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Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

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Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

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Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines. ...

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How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers. ...

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Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. ...

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Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Early development and regression in Rett syndrome

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Development of a video-based evaluation tool in Rett syndrome

Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy

How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

Bone mineral content and density in Rett syndrome and their contributing factors

Variation over time in medical conditions and health service utilization of children with Down syndrome

Functioning, participation, and quality of life in children with intellectual disability: an observational study

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome