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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.

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

People 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.

Determinants of quality of life in Rett syndrome: New findings on associations with genotype

Rett 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.

The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder

CDKL5 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.

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

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.

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...

Influence of the environment on participation in social roles for young adults with down syndrome

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...

Perspectives on hand function in girls and women with Rett syndrome

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.