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The development of research partnerships is a priority for InterRett, with centres or clinicians with access to large numbers of patients with Rett syndrome.
Research
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Research
Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
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 perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.
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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.
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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.
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.
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Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trialsExisting clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.
Research
Health care utilization and costs for children and adults with duchenne muscular dystrophyThe annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood