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Showing results for "autism"

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.

Dimensional Assessment of Restricted and Repetitive Behaviors: Development and Preliminary Validation of a New Measure

This study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains.

Experiences of Parents of Specialist Peer Mentored Autistic University Students

Parents continue to support to autistic university students, and consequently, experience considerable stress. The aim was to explore the experiences of parents of specialist peer mentored university students and to examine these using the ICF as a theoretical framework.

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

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

Annual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

Pubertal trajectory in females with Rett syndrome: A population-based study

The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.

“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...

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.

Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).