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Showing results for "autism"
Research
Parent and therapist perspectives on "uptime" activities and participation in Rett syndromePeople with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.
Research
Twenty-Five Year Survival of Children with Intellectual Disability in Western AustraliaTo investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.
Research
Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
Research
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.
News & Events
Building the foundations of communicationSenior Speech Pathologist Sally Grauaug looks at how to build the foundations of communication with your child.
Research
Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Research
Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trialTo evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Research
Determinants of quality of life in Rett syndrome: New findings on associations with genotypeRett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.
Research
Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent PerspectivesIntellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
Research
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database studyOur 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.