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International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA

The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Perinatal testosterone exposure and autistic-like traits in the general population: a longitudinal pregnancy-cohort study

Increased prenatal testosterone exposure has been hypothesized as a mechanism underlying autism spectrum disorders (ASD).

Co-design of a neurodevelopment assessment scale: A study protocol

Neurodevelopmental disorders are a heterogeneous group of conditions with overlapping symptomatology and fluctuating developmental trajectories that transcend current diagnostic categorisation. There is a need for validated screening instruments which dimensionally assess symptomatology from a holistic, transdiagnostic perspective.

Survey finds parents don’t always know if their kids are struggling emotionally

As a parent of two teenage daughters, I like to think I know what's going on in their lives and how they are feeling.

Women's knowledge and attitudes regarding alcohol consumption in pregnancy: a national survey

Alcohol exposure in pregnancy is a common and modifiable risk factor for poor pregnancy and child outcomes.

School Readiness Project

Investigating school readiness in ORIGINS' five-year-olds

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed

Driving and Diabetes

Getting a driver's license is an important milestone for a young adult in terms of gaining independence, including young people with diabetes.