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Showing results for "rett"

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is…

How much activity is recommended?

people with Rett syndrome. One size won’t fit all, because different individuals with Rett syndrome

Updating the profile of C-terminal MECP2 deletions

'Updating the profile of C-terminal MECP2 deletions in Rett syndrome', Journal of Medical Genetics, vol. 47 ... the MECP2 gene are associated with Re…

Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Resourceful and creative methods are necessary to research rare disorders

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertain…

Caring for caregivers

uptime, it doesn’t only affect the person with Rett syndrome; it affects the whole family. Especially ... Get involved with support groups (such as y…

Family satisfaction with spinal fusion

& Downs, J. (2015). Spinal fusion in girls with Rett syndrome: Family experiences and postoperative recovery ... d Scoliosis occurs commonly in Rett…