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Research

Early determinants of fractures in Rett syndrome

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Research

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Research

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder

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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

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The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

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Incidence and associated risk factors for falls in adults with intellectual disability

People with intellectual disability fall at a younger age compared with the broader community

Research

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 understanding autism risk

Research

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Research

A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown

Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.