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Showing results for "rett"
When you build routines into your day to increase uptime, it doesn’t only affect the person with Rett syndrome; it affects the whole family.
Research
The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international registerHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
Research
There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.
Research
Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorderThe study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.
Research
Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorderThis study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.
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The Silent AngelTaylor is a remarkable young woman with Rett Syndrome who is leading an active country life with the support of her family and the local community.
Research
Oral health education and promotion in special needs children: Systematic review and meta-analysisTo review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
Research
Siblings of children with disabilities: challenges and opportunitiesSiblings of children with disabilities: challenges and opportunities