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Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated.

Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.

Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation Study

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.

The broader language phenotype of Autism: A comparison with Specific Language Impairment

Some individuals with autism spectrum disorders (ASD) experience linguistic difficulties similar to those found in individuals with specific language...

Developmental Vitamin D Deficiency in Pregnant Rats Does Not Induce Preeclampsia

Preeclampsia is a pregnancy disorder characterized by hypertension. Epidemiological studies have associated preeclampsia with an increased risk of neurodevelopmental disorders in offspring, such as autism and schizophrenia. Preeclampsia has also been linked with maternal vitamin D deficiency, another candidate risk factor also associated with autism.

The effect of diesel exhaust exposure on blood-brain barrier integrity and function in a murine model

Epidemiological studies indicate that exposure to diesel exhaust (DE) is associated with vascular-based disorders.

Recording a history of alcohol use in pregnancy: an audit of knowledge, attitudes and practice at a child development service

To assess the effectiveness of alcohol documentation and to measure the practice of health practitioners in relation to asking about alcohol and pregnancy.

Nitrous oxide (N2O) and subsequent open-label SSRI treatment of adolescents with depression (NOTAD): Study protocol for a randomised controlled trial

The aim of this study is to investigate the antidepressant effects of N2O and N2O and SSRI combined.

Telethon Institute a key player in new national autism research

The Telethon Institute will play a key role in a ground breaking, multi-million dollar Autism research centre announced by Prime Minister Julia Gillard.

Researchers tackle big issues in child development

Perth's The Kids for Child Health Research has been awarded a major national grant to continue ground-breaking work on child health and development.