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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Psychosocial disadvantage and residential remoteness is associated with Aboriginal women's mental health prior to childbirth

Optimal mental health in the pre-conception, pregnancy and postpartum periods is important for both maternal and infant wellbeing. Few studies, however, have focused on Indigenous women and the specific risk and protective factors that may prompt vulnerability to perinatal mental disorders in this culturally diverse population.

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

“We Need Community-Centred, Strongly Ethical Genetic Research”: A Qualitative Investigation of Community Attitudes Toward Autism Genetics

Autism genetics has historically attracted a substantial proportion of autism research funding internationally. However, more recently, several controversies centered on ethical conduct and lack of community consultation have emerged. This has triggered Autistic-led protests for the functional and meaningful inclusion of Autistic voices in the research design.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

Prevalence and determinants of sleep problems in Rett syndrome

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework

Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: A systematic analysis for the Global Burden of Disease Study 2010

Non-fatal health outcomes from diseases and injuries are a crucial consideration in the promotion and monitoring of individual and population health.