Background
Not everything?s perfect
A Leiden trainee paediatrician has taken stock of the independence of eighteen year-olds with Down’s syndrome. "Society’s view is perhaps too optimistic.”
Wednesday 3 December 2014
Still from the Spanish movie Yo, también. Actor Pablo Pineda is the only European with both Down syndrome and a university degree.

In 1866, a London physician, John Langdon Haydon Down, wrote an article on the patients in the “Asylum for Idiots” where he was the highest-ranking doctor. He was an adherent of a racial doctrine popular among his contemporaries and thought racial distinctions were visible in his patients. He distinguished Caucasian idiots, an “Ethiopian” type, Malay types and a few Native Americans. Around ten per cent of all the cases had a flat, broad face and almond-shaped eyes. “It is difficult to realise he is the child of Europeans, but so frequently are these characters presented, that there can be no doubt that these ethnic features are the result of degeneration”, Down remarks.

Times have changed. People with mental impairments are no longer called “idiots” and racial doctrine has been binned – not because it was considered politically incorrect after the Second World War, but because it proved to be nonsense. Consequently, the notion that those London patients were “throwbacks” to an earlier, more primitive stage of the superior white man was rejected. Nowadays, we talk about trisomy 21: one chromosome too many. The term “Mongoloid imbecility” is no longer acceptable either: we say “Down’s syndrome”.

We haven’t only improved our language: the prospects for a baby born with Down’s syndrome – even Down realised that it was congenital – have improved drastically in recent years too.

To clarify: trisomy 21 does not just mean that your face looks different and that you have learning difficulties. All too often, it is connected to a whole catalogue of medical problems. About half of all babies with Down’s syndrome have cardiac disorders and half of those even require surgery. Children with Down’s syndrome are more likely to suffer from pulmonary complaints, eye disorders, stomach problems, bad hearing, constipation and infections.

Doctors are getting better and better at alleviating those problems. In the early eighties, there was still a 42 per cent chance that someone with Down’s syndrome would die of related heart trouble, while now that percentage has dropped to just below six per cent. The life expectancy of people with trisomy 21 has risen to sixty. Education and physiotherapy for children are increasingly adjusted to suit the needs of patients with Down’s syndrome. There are television stars with Down’s syndrome and the Spanish actor Pablo Pineda even managed to obtain a university degree despite suffering from the disorder.

So there are plenty of reasons to be optimistic about trisomy 21.

Nevertheless, Helma van Gameren, a trainee paediatrician at the Leiden University Medical Centre, is rather cautious. “Society’s view might be too optimistic, particularly because young people with Down’s syndrome are seen to be coping well in daily life and the media”, she recently wrote in Nederlands Tijdschrift voor Geneeskunde (Link, in Dutch). She knows what she is talking about: her brother has Down’s syndrome and to obtain her doctorate, she spent years researching a group of over three hundred young patients.

In the article, she and her fellow authors describe the independence of those young people. The parents were sent a questionnaire in which they could list what their child – aged eighteen – could and could not do. The results were surprising for those of us who depend on the television for our information about people with Down’s syndrome. Sixty per cent of them is able to go to the lavatory unaided. Twenty per cent can only be understood by their closest carers and another nine per cent scarcely speaks, or does not speak at all. Two thirds of the children cannot be left at home by themselves for a few hours. Less than one in ten can cope with a bank card, travel by public transport or put a pizza in the oven.

“Some parents said: ‘Now I’m filling in this list, I realise how much he can’t do, but he is happy’”, Van Gameren recalls. “Other parents were glad there is clarity about the amount of care needed, making it easier for new or future parents to know what to expect. For parents already caring for a child with Down’s syndrome, there is recognition for the care they give. It’s important that pregnant women are properly educated at the screening because people must be able to base their choices on a realistic view of Down’s syndrome.”

And are they really happy? The cliché says so. Dutch poet Willem Wilmink’s most famous poem is about a boy with Down’s called Freekie, and “no one was ever as happy as he could be”. Even Dr. Down spoke highly of their sense of fun: “A lively sense of the ridiculous often colours their mimicry”. But Van Gameren thinks there’s more to it than that: “It seems as if young people with Down’s syndrome are hardly ever frightened, gloomy, worried or unhappy, but on the other hand, they very often don’t communicate and have trouble following a conversation, which would suggest that not everything’s perfect. We don’t really know if they are happy or not.”

How are her results received by people who are dedicated to creating a positive image of people with Down’s syndrome? “Varied”, she explains: “You need to distinguish between education and reports in the media. In the media, you usually see the upside of Down’s, because they show you the upsides of everything. But we shouldn’t get too optimistic because that will raise our expectations too much and real problems might not be recognised.”

By Bart Braun