Skip to content

Search

Showing results for "Neuromuscular disorders "

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now conside…

Understanding the impact of developmental coordination disorder on Belgian children and families: A national survey study

Developmental Coordination Disorder (DCD) is an under-recognized and often trivialized neurodevelopmental condition impacting five to six percent of…

Midaiah

greater understanding of complex illnesses and disorders. I want to contribute so that in future years

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

Autism and diagnostic substitution: Evidence from a study of adults with a history of developmental language disorder

Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being di…

Do parent-reported early indicators predict later developmental language disorder? A Raine Study investigation

Developmental language disorder (DLD) is one of the most common neurodevelopmental conditions. Due to variable rates of language growth in children u…

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental…

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 understan…

Community Priority setting for Fetal Alcohol Spectrum Disorder Research in Australia

Introduction Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a ra…

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Di…