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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.

Role of maternal mental health disorders on stillbirth and infant mortality risk: a protocol for a systematic review and meta-analysis

We plan to examine whether prenatal maternal mental health disorders impact the risk of stillbirth and infant mortality

Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015

Almost half of stillbirths could be potentially identified antenatally based on a combination of factors

Maternal Alcohol-Use Disorder and Child Outcomes

The effects of maternal alcohol-use disorder are experienced by the majority of exposed children rather than a vulnerable subgroup of this population

Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study

The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk

Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%

Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome