Skip to content

Search

Showing results for "Neuromuscular disorders "

A review of structural brain abnormalities in Pallister-Killian syndrome

PKS is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associate with neurological…

A prospective ultrasound study of prenatal growth in infant siblings of children with autism

Numerous studies have observed that a proportion of infants later diagnosed with autism spectrum disorder (ASD) experience accelerated head growth...

Acute rheumatic fever

Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may e…

Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent su…

Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.

Celebrating kids and families with disability

of conditions including cerebral palsy, rare disorders like Rett syndrome, developmental coordination

AussieRett

Paediatric Specialist in the Genetic Metabolic Disorders Service at disorders. She is involved in the ongoing clinical component ... special interest…

Lipid metabolism dysregulation in Parkinson's disease: A Mendelian randomization and transcriptomic analysis

Parkinson’s disease (PD) is a progressive neurodegenerative disorder in which mechanisms linking metabolic dysregulation to neuronal vulnerability re…