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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Research
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
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Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
Research
Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiencesRett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...
Research
The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome DatabaseThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
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Video: One brave little girl's battle with Rett syndromeImagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.