Philippa Taylor

New Down’s syndrome research: saving lives vs saving money

Philippa Taylor is Head of Public Policy at CMF. She has an MA in Bioethics from St Mary’s University College and a background in policy work on bioethics and family issues.
The views expressed do not necessarily reflect those of CMF.

downs-220x127A wonderful video has recently been released to honour those with, or caring for, people with Down’s syndrome. It is only a few minutes long but has a powerful message. 15 young people with Down’s syndrome speak to a mother who is expecting a baby with Down’s syndrome. They say that it will difficult for her at times, but ask ‘isn’t it for all mothers?

The video is produced by the Jerome Lejeune Foundation, one of the world’s main promoters of research in genetic intelligence disorders. 1959, Professor Jérôme Lejeune, doctor and researcher, discovered the cause of Down’s syndrome (trisomy 21). The Jérôme Lejeune Foundation aims to improve intellectual function in patients affected by genetic diseases with intellectual disabilities, with a particular focus on those with Down’s syndrome.

After antenatal screening in the UK, 92% of women who receive a diagnosis of Down’s syndrome have an abortion. This is costing the NHS approximately £30 million a year, including the startling figure of £100,000 for ‘healthy foetal loss’ (ie. babies without Down’s syndrome who die because of spontaneous miscarriage after amniocentesis or chorionic villus sampling).

As screening tests become cheaper and more accessible, which seems likely, with more sensitive testing, many more babies with Down’s syndrome will be detected in the womb.

One of the consequences of so few births of babies with Down’s syndrome is less incentive and demand for research into Down’s syndrome.  Liz Elliot, of the Down Syndrome Research Foundation says that the UK spends around £14 ($22) on medical research per person with Down’s syndrome annually (the US spends around $80 pp).  Hence the value and importance of organisations such as the Lejeune Foundation.

There is more about the latest research the Lejeune Foundation is doing here. One scientific hypothesis they are exploring is on genetic immunodeficiency carried by the chromosome 21, which is particularly expressed in Down’s Syndrome because there are three of them.  They are also carrying out valuable research on Alzheimer’s disease. The gene which develops amyloid plaques is the APP gene which happens to be located on chromosome 21. When the gene overexpresses, it leads to an increase of the Amyloid plaques and, therefore, to Alzheimer’s disease.

The Director of Research notes that: ‘the treatment will benefit all people affected by Alzheimer’s! This, indeed, shows that research on Down’s Syndrome benefits the whole of the community.’

They are carrying out clinical trials on adults with Down’s syndrome who are being treated over a period of one year with green tea extracts. Using green tea extracts might seem unusual however other research is also exploring this, as I note below.

In the US an interesting paper has recently been published on fetal therapy for Down’s Syndrome, in the Journal of American Physicians and Surgeons. In the past it was thought that genetic, congenital, or neurologic disorders were untreatable. This is now changing. It is now becoming clear that developmental enhancement may be a new, and effective therapy.

The paper reports on several clinical cases which suggest that young patients with Down’s syndrome might be capable, with a combined program of education and biomedical treatments before and after birth, of far greater intellectual achievement than expected.

Looking first at the developmental enhancement: The researchers had several onhealthy uroxatral case studies of children with Down’s syndrome and they found that children given increased sensory, motor, electrical, chemical, physiologic, or social stimulation developed and maintained greater neurologic capability and function.

For example, reading 30 minutes a day, music, yoga-based passive movement stimulation program and reading flashcards from six months. One mother read five to 15 books per day to her son, she integrated counting into all aspects of daily life, the baby slept with his mother and received constant verbal and tactile stimulation from her.

When tested, the baby’s developmental achievements were normal or only mildly delayed. The evaluators said they ‘had never seen such a child with Down’s syndrome.’ He could read and respond with gestures by 19 months. He could read aloud by 23 months and his expressive speech met most milestones for three-year-olds and some for four-year-olds.

Second, biomedical treatments were also found to be effective. Many human neurologic diseases and neurotransmitter pathways are influenced by biochemistry and nutrition. It is known that nutrient deficiencies can cause birth defects, and treatments before conception are well known to affect outcomes months or years later.  Hence, for the last several decades folic acid for prospective and pregnant mothers has been recommended clinically to prevent spina bifida.

In the case of Down’s syndrome, research on mice suggests that prenatal and early natal treatment improves development (timing is important as similar treatments later in life often have less effect). For example, choline during pregnancy and lactation improved cognitive function as adults, as did perinatal treatment with vitamin E. These researchers also found that green tea extract helped restore normal physiology, learning, and behaviour.

The researchers acknowledge the limitations of using a few case studies, however they nevertheless conclude that: ‘Several nutrients and drugs are promising. Experiments with mouse models may lead to effective treatments. Proper timing of treatment is crucial. Better understanding of brain development could benefit all children, not just those with Down’s syndrome.

In this context, there is clearly real value in early prenatal testing.  Early testing gives parents the opportunity to take appropriate biomedical treatments and initiate developmental treatments from pregnancy onwards, as well as prepare emotionally for their child to be born.

The research I cite gives just a hint of potential for treatment for people with Down’s syndrome which, along with the video, could dramatically change outcomes for many thousands of babies diagnosed prenatally.

However we are in a vicious circle. More Government investment in research and treatment is desperately needed, but when so few babies survive the prenatal screening process, there is less and less incentive to invest.  Until defending life and patients’ dignity becomes a priority, economics will continue to reign.

Yet as Jerome Lejeune said: ‘Again and again we see this absolute misconception of trying to defeat a disease by eliminating the patient! It’s ridiculous to stand beside a patient and solemnly say, “Who is this upstart who refuses to be cured? How dare he resist our art? Let’s get rid of him!” Medicine becomes mad science when it attacks the patient instead of fighting the disease. We must always be on the patient’s side, always’. 

 

Posted by Philippa Taylor
CMF Head of Public Policy

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