Saturday, May 07, 2011

Every diagnosis of autism should be accompanied with screening for genetic syndromes

Many cases in which kids are diagnosed with autism appear to actually be the result of identifiable genetic syndromes. Whether or not such cases should be regarded as autism or autism-like conditions is an open question. Below is a link to a recent news story about a family in which one twin son has a diagnosis of autism, and the other twin son a diagnosis of Leigh's disease, a mitochondrial disease that is apparently inherited due to a mutation in mitochondria inherited from the mother. Mitochondria are the power-sources of the body's cells, and when they are impaired motor functioning and the central nervous system are inevitably impaired.

This is not the first time that autism has been associated with a mitochondrial disease. In 2008 the federal government agreed to award damages to the family of Hannah Poling, a girl who developed autistic-like symptoms after receiving a series of vaccines. Months later she was diagnosed with a mitochondrial disease, which presumably would have been an inborn, not acquired disorder. Some anti-vaccine parents of autistic children view this ruling as confirming that vaccines cause regressive autism, but most children with autism do not seem to have mitochondrial disorders, and the case was conceded without proof of causation. The questions that scientists and parents need to be asking are - is regressive autism different to non-regressive autism in etiology and or presentation, is regressive autism caused by mitochondrial disease, and can anything be done to prevent, cure, manage or treat mitochondrial disease?

Please donate toward charities that fund research into rare diseases, if you can afford it. Such diseases are often very neglected by research and very serious in their effects.

Leigh's disease a challenge for new mums
Natasha Boddy
The West Australian
April 30, 2011

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