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Showing results for "rett"

Caring for caregivers

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 register

Helen 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 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

Research

Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

The 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 disorder

This 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.

News & Events

The Silent Angel

Taylor 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-analysis

To 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.

Stereotypical hand movements

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 opportunities

Siblings of children with disabilities: challenges and opportunities