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Showing results for "autism"

Research

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency

Research

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

The Sibling Project

The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.

Research

The application of population data linkage to capture sibling health outcomes among children and young adults with neurodevelopmental conditions. A scoping review

Siblings of children with neurodevelopmental conditions have unique experiences and challenges related to their sibling role. Some develop mental health concerns as measured by self-reported surveys or parent report. Few data are available at the population level, owing to difficulties capturing wide-scale health data for siblings. Data linkage is a technique that can facilitate such research. 

Research

Maternal mental health and risk of child protection involvement: Mental health diagnoses associated with increased risk

This WA data linkage study aims to assess whether maternal mental health problems are associated with worse child development outcomes, children’s safety and...

Research

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity. 

Research

The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study

Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months

Research

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...

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