A misreporting of scientific research about prenatal screening has exposed the wider issue of support for parents and children who are found to have a condition, writes Andrew Mickel
Recent reports in the national press that Cambridge’s autism research centre was in the final stages of devising a prenatal autism test drew protests from the professor who led the research. What had actually happened was that Simon Baron-Cohen‘s (pictured right) team had found by chance that exposure in the womb to higher levels of testosterone increased the odds of developing autistic traits. The team had not set out to devise an autism test.
Despite the media misrepresentation of the research – Baron-Cohen put the record straight in Community Care last month – the findings do point to a future where such tests could actually exist, not just for autism but for a range of conditions. Baron-Cohen has called for a debate on the consequences of having such tests.
That debate so far has focused on the rights and wrongs of whether parents decide to continue with a pregnancy when they discover their unborn child has a condition. But it is also worth considering the implications for parents who choose to keep their child – both for how they prepare for parenting and what the state provides in the way of early support.
This is a less abstract debate than it may at first seem. Screening for Down’s syndrome, for example, has been available for years. But despite those tests, provision for newborns with the condition remains patchy, says Jane Fisher, director of Antenatal Results and Choices, which advises parents through the antenatal testing process. “Social services provision is minimal. Some professionals are good at referring on to others, but there should be more work on making more robust pathways for those parents.
“One aspect is providing good emotional support, and ensuring that parents are referred to the right paediatricians and social services when children are born.”
Providing support for parents could be one of the biggest advantages of screening. However, Susannah Seyman, information officer for the Down’s Syndrome Association (DSA), says the arrangements to support parents in that situation are ad hoc. “You almost have to go through a stage of grieving before you get on with things. Then, when the baby comes, they are just picked up and loved. But when the screening programme came in, the Department of Health didn’t say ‘we’re starting this programme, here’s some money to man the helplines’. We didn’t know we’d be receiving thousands of calls from pregnant women.”
From diagnosis to provision at birth, the services provided to those expecting a child with Down’s syndrome depend on the quality of the professionals who are working with them – and they are often found wanting. A report from the DSA in 2006 found that two-thirds of people were told by telephone that their child had Down’s only half were given practical information, such as a phone number of a local parent support group. By contrast, in the US, a law was recently passed to ensure that good information was relayed to expectant parents about whatever conditions their children may have.
But Down’s syndrome is not autism. Baron-Cohen points out the connections between autism and talent, making clear his view that autism is not something that needs “treating” in the same way.
There remains the potential that an early diagnosis – say, from birth, as opposed to age three – could allow earlier access to therapy. However, Baron-Cohen says there is not yet conclusive evidence that existing early interventions work. “You need research to see if these things do make a difference or not. Comparing early to later interventions takes time and I don’t think they’ve been done yet,” he says.
“Having said that, there would be some interventions that wouldn’t do any harm. It wouldn’t hurt to give more access to social skills and language therapy, or some highly structured forms of early intervention, such as applied behavioural analysis.”
That will only work, however, if there is more solid provision of support than exists for those born with Down’s syndrome. Annie Mackie, the director of programmes at the National Screening Committee, agrees that Down’s provision has been patchy, but it is improving: “There aren’t a lot of services for those with Downs – they just go into paediatrics and other departments like cardiology.”
“But for the most part, we say there shouldn’t be a screening programme without a pathway into treatment and support. If a child is born deaf there’s something more comprehensive as there will be a meeting between representatives from health, the council, education and so on to help meet the needs of that child and their family.”
New screening programmes can be expensive. Although there are some identifiable costs, the range of services that must be drawn together mean that the success of a new programme is dependant on existing services expanding to take in these new clients. It is little wonder that a proposed screening programme can take anything from four to 20 years to move from an initial idea to on-the-ground implementation.
“We have criteria that must be met before doing a screening programme and the hurdles are relatively high,” says Mackie. “With screening, one takes people who think they have nothing wrong and say there may be something wrong with them, so the risk of making people worry is much higher.”
Before a programme can be proposed, the ability to test and screen for new conditions needs to be developed. Despite this, Baron-Cohen says more debate is needed. “The reason I put the question out is that there is a lot more biomedical research now about autism – there’s a new genetic study published nearly every month. But a test could still be five years away.”
This is something of a guesstimate – the National Autistic Society says it may never be possible to test for autism. So although the example of Down’s syndrome shows that screening programmes have to be supported adequately, it remains too soon to plan for increasing therapies from birth for many conditions.
Watching the detectors
Antenatal screening identifies those who are at high risk of developing a disorder prenatal testing is a diagnostic tool that gives a definitive result.
For example, the national Down’s syndrome screening programme is offered to all pregnant women, but it takes the later prenatal test of amniocentesis – which involves placing a needle into the placenta – to establish whether a foetus has the condition. Testing carries a small risk to the unborn child.
Jane Fisher, director of Antenatal Results and Choices, estimates there were more than 20,000 diagnostic tests run last year – about 5% of all pregnancies.
The work at Cambridge is not aimed at becoming an autism detector. But a hypothetical detection method that was based on Baron-Cohen’s approach of monitoring testosterone would constitute a prenatal test.
Published in the 19 February 2009 edition of Community Care under the headline ‘To Screen or Not to Screen’