Rett syndrome needs diagnostic aid

AUSTRALIAN researchers are developing a more sensitive diagnostic tool for Rett syndrome, a genetic condition that affects one in 10,000 girls.

The Telethon Institute for Child Health Research, Perth, which maintains the national and international Rett syndrome registries, hopes the tool will boost early diagnosis and recognition by doctors.

Symptom onset usually occurs at 6–18 months, but an Australian study found diagnosis occurred at a mean age of five years.

“When it occurs, the families just don’t know what is happening and it really is a very distressing time,” said the institute’s Dr Helen Leonard, who recently recorded a case diagnosed at age 11.

“So for the welfare of the family, an early diagnosis is very important.”

Data on up to 150 children will be collected from doctors referring girls with suspected Rett syndrome for genetic testing in NSW, Queensland and Western Australia

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