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BRITISH BROADCASTING CORPORATION
RADIO SCIENCE UNIT
CASE NOTES Programme No. 2: Down's Syndrome
RADIO 4
TX DATE TUESDAY 8TH JANUARY 2008 2100-2130
PRESENTER: MARK PORTER
REPORTER: LESLEY HILTON
CONTRIBUTORS: LIZ MARDER
PATRICK SHEEHAN
VEE PRASHER
PRODUCER:
NOT CHECKED AS BROADCAST
CLIP
When we was in hospital after he'd been diagnosed as Down's he was in for a week because he'd also got a chest infection and Dr Marder came and she was brilliant, gave us lots of information and mentioned this group. When we've not been in hospital we've been coming here every month and it's helpful, it's great to meet other mums to find out what they're going through, what they did to solve problems that they had and also to be able to see the medical teams and physiotherapists and get ideas and support and reassurance from them as well.
PORTER
Today's programme is all about Down's Syndrome and to find out more about the condition I have come to City Hospital in Nottingham, where paediatrician Dr Liz Marder and her team run a drop in clinic for families who have a child with Down's.
MARDER
People with Down's Syndrome have got additional chromosome material, so every cell in the body has a certain number of chromosomes and people with Down's Syndrome have an additional chromosome, it has a particular number because that's how we label the chromosome - number 21 - and instead of having two copies in every cell they have three copies of chromosome 21. The extra chromosome material, for reasons we don't fully understand, causes different physical and behavioural learning characteristics.
PORTER
And what's going wrong in the process or what do we think's going wrong in the process that means some children are ending up with three chromosomes, have we managed to identify that?
MARDER
What is happening is in the very early stages of the foetal development when the eggs are dividing there may be what we call a photocopying accident, if you like, just that the body produces more and they don't divide correctly into the two sides of the eggs. Or it might be that the egg or the sperm actually carries an extra chromosome, so the parent in this essence is a carrier for Down's Syndrome, that's quite rare but that can happen.
PORTER
So the majority of cases would be a glitch, if you like, in the early development of the embryo?
MARDER
Yes.
PORTER
And what sort of factors might influence the odds of that glitch occurring in a baby's early development?
MARDER
One that's very well known is that well maternal age - the older the mum is when she gets pregnant the more likely she is to have a baby with Down's Syndrome. The risk for an average pregnancy in a mum below the age of 25 is about 1 in 1600 and that rises to about 1 in 340 when mum's aged 35 and 1 in 40 at the age of 43. The idea is that we meet the families very early on, usually very soon after birth, and we explain to the families about Down's Syndrome but also about the type of healthcare we think they ought to have, which includes certain checks at certain ages looking for conditions that are more common in Down's Syndrome. And we then encourage the parents to become proactive in looking after their child's health themselves. So with the information about when we think they ought to have checks they come along to our clinic at their convenience and we arrange for them to see paediatricians at the clinic, they can also see a physiotherapist, we arrange speech and language therapy through the clinic and we have specialist nurses who can advise on things like continence and sleep if they happen to be issues. And we can refer them on to dental, ear, nose and throat surgeons, cardiac surgeons as appropriate and we have close links with the education department who often attend our clinics and meet the families in the early days.
PORTER
Presumably it's also an opportunity for the parents to meet other parents who are in exactly the same situation as them?
MARDER
Absolutely and they will always learn far more from each other than they do from us, particularly about resources locally. One will have gone to a really good playgroup or dance class or something that was very accepting and will pass the information on and then they all go.
PORTER
How common is Down's Syndrome?
MARDER
Well the birth incidents in this country at the moment is about one in a thousand babies. So there are about 700 babies born each year with Down's Syndrome.
PORTER
And how many would you have on your books at a clinic like this?
MARDER
Oh we have about 12 a year born in Nottingham, so we mainly see pre-schoolers in our clinic. So we have about 40 or 50 children who drop into our clinic from time to time.
PORTER
Down's Sndrome can be suspected - or even confirmed - as early as the third month of pregnancy thanks to a combination of modern ultrasound techniques, blood tests and sampling of the amniotic fluid or placenta for chromosomal analysis. But in many cases the diagnosis isn't made until after the child has been born.
MARDER
The facial characteristics - the down slanting eyes is the one thing that people wouldn't often notice - very small face often, crowding of the facial features, small ears, flat back of the head - so those are the sort of things you notice facially that might be different. A single palm crease ...
PORTER
So only one line on the hand.
MARDER
Yeah right across the middle of the hand.
PORTER
And what else is going on, that's the external appearance but there are other changes as well?
MARDER
Yeah, I mean the other thing you'd probably first notice in a newborn baby is that they may be floppier than other children and that's something that also has an impact on their physical development. But there are other - the two other areas that they do need to worry about is children with Down's Syndrome first of all are susceptible to not different medical conditions but they're more likely to get a whole range of medical conditions than the general population.
PORTER
Conditions like?
MARDER
Congenital heart disease, so being born with a different structure of your heart that's going to affect its function which occurs in 40-50% of all babies with Down's Syndrome.
PORTER
And presumably that varies from relatively minor to potentially quite serious?
MARDER
Yes extremely serious. Of the 40% probably the majority will need some sort of treatment at some stage, sometimes urgently and sometimes in the newborn period, often in the first year of life. The other half have essentially normal hearts.
PORTER
And besides the heart?
MARDER
For a newborn baby the other worry would be that they might have a bowel problem. Ten per cent of babies with Down's Syndrome of some sort of significant abnormality of the bowel which can be critical and they can have a discontinuous bowel - a jejunal - duodenal atresia which is where the bowel's actually discontinuous and that obviously would present very early because as soon as the baby feeds they would - the food can't pass from one end to the other and that needs treating urgently on day one.
PORTER
Of course the complication that most people would be familiar with is more long term, it's that of learning difficulties, is there something different about the brain of a child with Down's Syndrome?
MARDER
Structurally they actually look generally quite normal, might be a little smaller than others, certainly as chemical level and things there's difference in the function, not necessarily anything you can see on ordinary scans.
PORTER
And to what degree is there variation from child to child?
MARDER
I mean a typical child with Down's Syndrome will have what we call moderate to severe learning disability but the range can be anything from very profound difficulties, which is rare, to ability that would overlap with the lower end of the normal range. So in an ordinary classroom you'd have children who were less bright and some of the brightest children with Down's Syndrome would be indistinguishable from them in terms of their learning ability.
Okay, so this is our clinic room. Families arrive here and they come in, say hi to our receptionist, and decide whether they want to see a doctor or a therapist.
PORTER
So they make that decision - they arrive here and say I've got a particular problem ...
MARDER
We have a hit list of who we think needs to be seen and we will remind them that they need to be seen if they don't remember but actually they're very good and they come when they're supposed to.
PORTER
It does look very much like a playgroup, I mean in the middle of the room there's all the parents are down there with their children playing.
MARDER
Yeah, yeah, so there's a very much informal atmosphere. And for new parents they often come along - they don't want to see a health professional they just want to see other families with children with Down's Syndrome and get a feel for what it's going to be like for them. Sometimes we even have people coming who know they're pregnant with a baby with Down's Syndrome and they haven't got the baby yet and they just get a feel for what ...
PORTER
Come and meet other parents and find out what ... yeah. And they don't have a specific appointment as such, they arrive and might spend the whole morning here?
MARDER
They might do, yes, yeah.
DEBORAH
I'm Deborah, I'm 42 and this is my son Leland. He was born naturally in June - June 9th - it was very quick. I just got to the hospital in time and I had him within three quarters of an hour. Normal birth. So there was - on one of the scans there was quite a lot of fluid under the baby's neck and back so they did the needle test and found out he'd got the extra chromosome which indicated he'd got Down's. I didn't really want to have the test in case I lost him, even though he probably had Down's, I didn't want to lose him so I'm just glad we got through it but I think there is pressure but it's up to the person, if I did get pregnant again I wouldn't have the test, I'd just - you know if I decided to get pregnant that should be it, I'd just carry on with it and - it was very upsetting at the time because we've been trying seven years for a baby, so it was really upsetting but like I say we knew he was very strong and that so we decided to keep him anyway. They were a bit worried about his heart but that's all checked out fine, so yeah, he's a pleasure - he's lovely, he's a happy little boy. And he's been lovely ever since, he loves coming here.
ESTELLE
I'm Estelle, and this is my second son Gideon. Gideon is nine and a half months old. He was born at home and everything seemed fine, it was a really good labour, no problems at all and he was a really contented little baby and we didn't really suspect anything was wrong. When he was 11 days old the midwife sent him to hospital because he wasn't gaining weight very well and that's when he was diagnosed. The initial diagnosis of a Down's Syndrome didn't bother my husband and I, that was kind of a case of well fair enough we'll deal with that, we can get on with that. But the next day when they told us he had two serious heart conditions that really knocked us for six. Just to accept that life is going to be different, it's not what you probably had planned. So he's had one lot of surgery when he was 10 weeks old and we're now trying to grow him as big and strong as we can for some open heart surgery next year. My other lad Joel will be four in January and he's great - he's great fun - he thinks his brother's absolutely brilliant. He's such a happy baby and such a smiley baby that everybody just thinks he's great fun. Ah well done Gideon. That's really good. Do you want to see what it tastes like as well? No? Yes, does that taste good? Are you chewing the tambourine? Oh dear. Shall I pick it up again? There you are. Thank you. Good boy. Well done. That's brilliant shaking Gideon, well done.
PORTER
Jo Walker is also a regular at the clinic. Her daughter Freya developed another problem that is much more common in children with Down's Syndrome - leukaemia. Overall children with Down's are around 20 times more likely than other children to develop leukaemia. Freya was diagnosed when she was just two and half.
WALKER
She was getting a lot of bruising but wasn't actually worried about because I bruise really easily and her older sister bruises really easily so it's just something that I mentioned when I came to clinic one day and they took some blood tests to see what the cause could be.
PORTER
And she was obviously admitted to hospital with that and underwent long and intensive therapy. What was that like for you, presumably you were in the hospital with her?
WALKER
Yes quite hard actually, I was seven and a half months pregnant with a baby at the time and it wasn't until her brother was born and was a week old that she actually started treatment for the leukaemia.
PORTER
I'm interested that you became pregnant again, many parents might have been put off by having a child with Down's and realise there's a lot of commitment there but you went straight into having another child.
WALKER
Well not straight into it, we did decide after we had Freya that we weren't going to have anymore children but then just one night we were talking about it I decided I'd like another child because I felt the family wasn't complete and my husband said he felt the same way as well. So we got in touch with the Down's Syndrome Association and asked their opinion of what they thought the chances were of another child being born with Down's Syndrome and through what they said we decided that we'd go ahead and have another child.
PORTER
What did they tell you about the risks?
WALKER
I think it was about one in a hundred but basically it was pretty rare because it's very rare for one family to have two children with Down's Syndrome.
PORTER
And how's Freya now?
WALKER
Yes she's not too bad, although she's got a bit of a nasty cold and cough, just get her chest checked over.
MARDER
Okay, how's Freya - how are you - are you okay? Hi.
WALKER
She's full of cold as you can see so if you could check her chest out for me please.
MARDER
That's fine. Ooh shall I have a listen to your chest sweetheart, yeah? There's a good girl. Doing some nice big breaths for me aren't you? Good girl. Can I have a listen at the back, can you just turn round and let me listen at the back, good girl. I like your school uniform, it's nice. The chest sounds alright but you can see how bunged up she is.
PORTER
Freya's a - got wonderful smiles but few words, is that normal for children with Down's Syndrome?
MARDER
The majority of children with Down's Syndrome have a significant difficulty with language and it's expressive language even more than perceptive language, so what they can actually produce in the terms of spoken language is often very delayed even though their understanding might be very much better. I don't know how much you've seen Freya but actually Freya is ...
PORTER
She's signing ...
MARDER
... communicator even though she's not an excellent talker, she makes her needs known absolutely and a lot of children will use various signs and symbols - Makaton signs - to make their needs known. And children with Down's Syndrome learn visually much better than they do learn from sound and there's some really interesting research about reading in kids with Down's Syndrome, that they seem to do it at an earlier age that you might predict from their overall cognitive ability because it's visual learning rather than auditory learning. Speech is delayed partly because auditory learning is difficult in children with Down's Syndrome but also because of poor control of mouth muscles, the same reason that they found difficulty getting on to solid food which Freya has difficulty with eating ordinary food because it's just harder work with the mouth and tongue muscles.
PORTER
The eventual outlook - is it a matter simply of delay, I mean will Freya eventually catch up or will she always lag behind?
MARDER
She'll probably always lag behind. It would be - there are certainly many people with Down's Syndrome with clear fluent speech but not the majority, the majority of people with Down's Syndrome will have some difficulty with speech, so it might be slower, it might be less clear or it might be that they don't actually use speech as full communication as adults.
PORTER
Ear, nose and throat problems - like glue ear and snoring - also occur more in children with Down's Syndrome. They may not be as serious as other complications - like leukaemia and congenital heart and bowel abnormalities - but the knock on effects can seriously hamper speech and language development. Something that is already slower than normal in children with Down's. Lesley Hilton sat in on an ENT clinic at Manchester Children's Hospital to find out what can be done to help.
HILTON
Many children with Down's Syndrome have a hearing problem. The most common form is conductive deafness, particularly glue ear. Fluid builds up in the Eustachian tube - which is between the ear and the back of the nose - stopping the eardrum from vibrating properly, causing deafness.
Ear, nose and throat surgeon Patrick Sheehan runs the clinic in Manchester. He has a son with Down's Syndrome and so has a special interest in the subject. He believes there are three reasons why these children are more prone to ENT conditions.
SHEEHAN
One is that they have narrowed features within the head, which leads to a narrowing of the tube, the equalisation tube, between the back of the nose and the ear. Also they have an issue with their immunity so therefore the fluid that they accumulate inside the ear is a little bit on the more viscous side, a bit thicker than the typically developing child would have. And the third issue, which is a little bit controversial but nevertheless is a factor, I think, is that they have hypotonia which is low tone. The muscle that controls the opening and closing of the Eustachian tube, the equalisation tube, the tone of that muscle is low.
I've just taken down the dressing on the BAHA side, it looks excellent, there was a little bit of crusting at the top but that will settle down and the crust will come away but I'm very happy with the way it's healing. Are you okay James?
JAMES
Yeah.
SHEEHAN
Thank you.
HILTON
Eighteen-year-old James Cooper has long-term hearing problems and can't wear conventional aids. He's already got a BAHA on one side - a bone anchored hearing aid - and is having another fitted on the other ear. BAHAs have a sound processor that clips onto a mounting which is attached to the skull just behind the ear. This connects the BAHA to the skull bone and allows sound to be transmitted more directly to the inner ear. James' mother Denise explains the difference it's made to him.
DENISE
He obviously didn't have really any sentences and it got him aggravated and it just made him really frustrated, yeah really, because he couldn't have normal conversations with people. He's had mastoid operations, he's had grommets when he was tiny. Nothing really seemed to help. Hearing aids, he just kept getting infections. Now he's got BAHA implants. They're just fantastic. They've made a remarkable difference to his life - quality of life really.
HILTON
Another ENT problem commonly seen in the clinic is obstructive sleep apnoea. Children with Downs's Syndrome are prone to this because of the narrowing of the Eustachian tube and poor muscle tone. They often snore, stop breathing altogether for several seconds, and wake many times during the night. This leads to tiredness the next day and poor concentration. Treatment involves surgery to remove the adenoids and tonsils.
ACTUALITY
Is that your car? Yes. Right. What do you want to play with, do you want to play with the car or push the pram, what do you want to do?
Push pram.
Push the pram?
HILTON
Four-year-old Ella Amara is back on the ward at the Manchester Children's Hospital after having her tonsils out. She was, in her father's own words, a whinging child who often fell asleep during the day. Her adenoids were removed in a previous operation, after she was diagnosed with sleep apnoea. Her sleep has improved and her dad Ted hopes that the removal of her tonsils will help even more.
TED
She stopped more or less breathing for a few seconds …something like….and then…..so that must have actually woken her up or something and then after a split second she just goes back to sleep and this seems to happen at least four or five times a night. Since that surgery she is actually more bubbly. Her speech has come on quite significantly and she actually doesn't sleep during the day anymore now. We have to force her to sleep.
HILTON
Treatment with aids for hearing loss and with surgery for sleep apnoea can make a huge difference to the quality of life for these children. Patrick Sheehan says their parents often witness a transformation in their child.
SHEEHAN
They are able to attend mainstream schools. The teachers are able to communicate with them. Almost all the patients I treat the parents come back and say they've seen a dramatic improvement in their speech and language development, that the child has picked up new words and is communicating more. With regard to their sleep apnoea many of these children, when we do take out their tonsils and adenoids, have a much more restful night's sleep and they're much more alert the next day and the parents again tell me that - a different child - they have a completely different child which is much more manageable and many of the behavioural issues have improved as well.
HILTON
In the past the hearing problems of children with Down's Syndrome were neglected and Patrick Sheehan is glad things have changed for the better.
SHEEHAN
I get concerned when I see some older adults now with Down's Syndrome who have no communication skills at all. I feel that this is almost certainly because hearing issues in the past - in the '60s and the '70s - were not felt to be an important problem and therefore a moderate hearing loss was considered part of Down's Syndrome and should not be treated. And we now see the results - these children clearly never got proper hearing assessments or treatment, their speech and language never developed and they now have no communication skills. This is all changing in modern medicine. We now manage and treat even a mild hearing loss with hearing aids or procedures like grommets. So I think that is a very positive move forward in the management of children with Down's Syndrome.
PORTER
Patrick Sheehan talking to Lesley Hilton. And the improvements in outlook referred to by Mr Sheehan are not limited to his field. Liz Marder again.
MARDER
The idea of us promoting the health and wellbeing of children with Down's Syndrome quite actively has changed. In the past people might have just assumed that children with Down's Syndrome weren't going to do very well at school and not actually consider that it might be their vision or their hearing or something like that that's impacting on their school progress. And in this country it's only since 1970 that we've had universal education, people think we've had it for longer than that but actually pre-1970 if you had a diagnosis like Down's Syndrome you might have gone to a training centre rather than a school.
PORTER
And never had a proper education at all.
MARDER
And not had a proper education. So you know we have a generation of older adults with Down's Syndrome who haven't had the opportunities for health or education that children today have and we might be basing on our expectation of Down's Syndrome on that population and it's not realistic.
PORTER
Advances in medical and surgical management of the complications associated with Down's have had a huge impact on life expectancy, and that, in turn, has brought other problems to light. Dr Vee Prasher is a neuro-psychiatrist with a special interest in the effects of ageing in adults with Down's Syndrome.
PRASHER
People with Down's Syndrome nowadays can live till the age of, on average, 50-55 years. Certainly in the 1920s the average life expectancy was about nine years. So there has been a dramatic increase in life expectancy for people with Down's Syndrome but it's still 20 years less than the general population but certainly we should now be seeing a lot of old adults with Down's Syndrome, people society, never saw before.
PORTER
And presumably they're presenting with a new range of problems because like all people they have issues that take them along to see the likes of you, what sort of people do you see in your clinic?
PRASHER
That's true, I mean we're now coming across age related problems that people with Down's Syndrome never experienced before. One in particular is dementia, or dementia of Alzheimer's Disease, a condition presented with memory problems, confusion, deterioration of self-care skills.
PORTER
Are they more likely to get Alzheimer's Disease or are they just developing it much earlier than the rest of us?
PRASHER
The answer's yes to both. They're particularly prone to Alzheimer's Disease. The reason for that is that people with Down's Syndrome often have an extra chromosome 21, so they have tri-chromosome 21. Sadly there is a gene for Alzheimer's Disease called the APP gene and that's also found on chromosome 21. So babies, children, adults born with Down's Syndrome have three genes for Alzheimer's Disease so you and I who have two chromosome 21 should dement hopefully when we're 80 or 90 but sadly people with Down's Syndrome have an overload of the APP gene and can dement as early as age 30 but on average around 45 to 50.
PORTER
And does it present in a different way?
PRASHER
Generally the symptoms are similar to the general population - memory decline, confusion, disorientation, changes in personality, loss of skills, sometimes mood changes. Now in Birmingham we're slightly different - we provide a screening service for adults with Down's Syndrome within Birmingham, so even if they themselves may not present with a problem we still like to see them to get to know them, to assess them, to have some baseline measures just in case in five years, 10 years, they may present with some deterioration. The problem that doctors often have is that we only see people when they're ill, so it's nice actually to see people when they're well and actually spend a couple of hours within the family home, get to know the family, have a cup of tea, coffee, have a chat so when they present with a problem we can then say is it just the person themselves, they've always been like this, is it their personality or is it a symptom of illness.
PORTER
And in terms of medical intervention, I mean obviously we can provide support to the families and the carers etc., but is there anything actually you can do medically to slow the progression of the dementia?
PRASHER
There's a lot we can do but I think the first thing, if I can just back step, is to assess to make sure that it is dementia. People with Down's Syndrome are now ageing, we've never come across ageing people with Down's Syndrome before and so we don't actually know what normal ageing is. So the first thing we need to ensure is are they just getting old, is this just age related decline or is there an illness. If there's an illness it may be due to a physical problem - a UTI, an infection of their waterworks, hearing infection, chest infection, it may be due to thyroid disease, it may be due to medication - you need to exclude those first and then think is it dementia. And even then if you think it's dementia it may be treatable, it may be due to depression, it may be due to a bereavement reaction. And after you've excluded all those possibilities only then can you really say they present with Alzheimer's. So the vast majority of people that I see actually don't have Alzheimer's Disease, they have other causes of decline which I have to exclude and treat.
PORTER
But assuming that you do suspect that it is a pure dementia, an Alzheimer's form of dementia, what can you do then?
PRASHER
There's different forms of treatment, you may want to treat the underlying condition and nowadays there's a number of drugs - anti-dementia drugs - on the market - donepezil or aricept which the public may have heard about recently is available. But certainly my view is that adults with Down's Syndrome should be treated like everybody else.
PORTER
Dr Vee Prasher talking to me earlier from our studio in Birmingham.
That's all we have time for. I would just like to say a special thank you to Dr Liz Marder and her team, and all the parents and children at the Children's Centre at Nottingham's City Hospital for making us feel so welcome.
And don't forget you can listen to the programme again by clicking on the Listen Again button on the Case Notes website at bbc.co.uk/radio4.
Next week's programme is all about transplants. I'll be getting an insider's view from someone who has just had her third transplant - she has had enough of being on the receiving end and is now training to be a doctor. And I'll be finding out about the latest developments in the field of stem cells, and meeting a man who might one day be able to grow you a new set of teeth.
ENDS
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