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Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

The diagnosis of autism in a female: could it be Rett syndrome?

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

New study exposes link between pesticides and childhood brain tumours

A new Telethon Institute study has revealed a potential link between pesticide treatments in the home and a higher risk of children developing brain tumours.

Watch out Super Nanny - Australian parents are doing it for themselves!

The first large scale scientific evaluation of group-based positive parenting programs has found that the intervention reduces behavioural problems

The Sibling Project

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.

Participation in the Wellbeing and Engagement collection in South Australian schools

In South Australian schools, students in Grade 4 to 12 are invited to participate in an annual survey about their wellbeing and engagement in school, referred to as the Wellbeing and Engagement Collection.