WA team uses baby tooth to solve death mystery

October 31, 2005

A team of Perth scientists have used a keepsake baby tooth to help a Queensland couple solve the mystery of their 7-year-old daughter's death - 14 years after she died.

Staff from the Western Australian Institute for Medical Research (WAIMR), the Telethon Institute for Child Health Research (TICHR) and the Neurogenetics and Forensic laboratories within PathWest, combined to establish that the little girl had died from the devastating neurological disorder, Rett Syndrome.

The group was able to make the diagnosis after carrying out a gene test on DNA extracted from the baby tooth.

A paper outlining the effort has just been published in the international medical journal, The Lancet.

Professor David Ravine, from WAIMR's Laboratory for Molecular Genetics and Dr Helen Leonard, coordinator of the Australian Rett Syndrome Study at the TICHR in Perth, said confirming the diagnosis had finally laid to rest many of the family's fears.

"Despite intensive investigation, the little girl's condition went undiagnosed by doctors all through her life, so the fact that the cause of her illness and death was finally pinpointed, gave the family the information they needed to understand what had happened," said Professor Ravine.

The mother contacted Dr Helen Leonard after coming across the Australian Rett Syndrome Study website and remembering that an occupational therapist had once suggested that her daughter might have this disorder.

Dr Leonard said that the confirmation of a definite diagnosis had erased years of worry for the family.

"Not knowing what was causing their daughter's illness, her parents began to wonder if they were somehow responsible," she said.

"They were worried their daughter's condition may be linked to a vaccination she'd had just before her health deteriorated.

"On top of that, her father felt guilty about the circumstance of a fall she'd had at 17 months. "So to know, after such a long time, what had caused their daughter's illness was a tremendous relief to them." Professor Ravine said that the mother's search for an explanation, even after her daughter's death, was prompted by concerns that any future grandchildren might be affected.

"Now, more than 10 years after her daughter's death, the test finding has discounted fears that the couple's son could also pass the condition on to any children he might have," said Professor Ravine.

He said that although extracting DNA from unconventional sources such as teeth was common in forensic medicine, it was not often used in a case such as this.

"Using this sort of technique in genetic counselling situations is very rare, but given that it's technically simple to do, and has had such enormous benefits for the family, I suspect it could become more common," he said.
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The Australian Rett Syndrome Study is a nation-wide study of Rett syndrome that is directed from the Telethon Institute for Child Health Research. It involves a collaboration of centres across Australia with the common goal of being able to provide accurate information about the progression of the disorder and about how it can best be managed. The study is also researching the relationship between the clinical and genetic characteristics of Rett syndrome and is an international leader in this area.

BACKGROUND INFORMATION

  • The little girl died in September 1991, at seven years of age of pneumonia after a five year history of undiagnosed neurological decline.

  • Although the faulty gene was present at birth, the baby had thrived during her first year and there were no parental concerns. At 16 months, however, unease emerged because she was not walking independently. Parental anxiety was further heightened by loss of previously acquired words. By her second birthday functional hand use, which had developed to the stage of self-feeding and pushing toy cars, was replaced by repetitive hand movements, including relentless finger-chewing and sucking. Seizures, which responded only partially to anticonvulsant therapy, started after her 3rd birthday.

  • Rett syndrome is a rare neurological disorder affecting 1:10000 children, mostly female. Children with Rett syndrome - known as 'Silent Angels' - appear to develop normally until six to twelve months of age when development suddenly seems to stop. Over the next few months the child typically starts to lose hand and communication skills. With time other disabilities, including mobility problems, digestive disorders, spinal curvature and epilepsy, become apparent.

  • Gavin Turbett from PathWest's Forensic Biology Laboratory extracted the DNA, allowing Mark Davis from PathWest's Neurogenetic Laboratory and WAIMR's Professor Nigel Laing to undertake genetic testing that confirmed Rett Syndrome.

    MEDIA CONTACTS:

    Natalie Papadopoulos
    WAIMR
    M: +61 407 984 435

    Elizabeth Chester
    Telethon Institute for Child Health Research
    M: +61 409 988 530

    Research Australia

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