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Science
CASE NOTES
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Tuesday 21:00-21:30
Repeat Wednesday 16:30
Dr Mark Porter gives listeners the low-down on what the medical profession does and doesn't know. Each week an expert in the studio tackles a particular topic and there are reports from around the UK on the health of the nation - and the NHS.
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LISTEN AGAINListen 30 min
Listen to 8 January
PRESENTER
DR MARK PORTER
Dr Mark Porter
PROGRAMME DETAILS
Tuesday 8 January 2008
Young boy with Down's syndrome (credit: Down's Syndrome Association)
Picture credit: Down's Syndrome Association

Full programme transcript >>

Down's Syndrome

Around 700 babies born in the UK every year have an extra copy of chromosome 21 - which results in Down’s syndrome.

In this episode of Case Notes, Dr Mark Porter explains how the health and wellbeing of children with Down's has vastly improved over the years – thanks to heart surgery, treatments for hearing problems and speech therapy.

Mark visits the City Hospital in Nottingham, where paediatrician Dr Liz Marder and her team run a monthly drop-in clinic for families who have a child with Down’s syndrome.

Some conditions are more common in people with Down's syndrome - like heart conditions and leukaemia.

Jo Walker's daughter, 5-year-old Freya, developed leukaemia when she was just two years old - a condition which children with Down's syndrome are 20 times more likely to develop than the rest of the population.

Her mother gave birth to her second child just as Freya's treatment for leukaemia was about to start.  The Down's Syndrome Association advised Jo that it was most unlikely that she would have another child with Down's.

Freya has recovered from leukaemia and comes into the clinic to see Dr Marder about ear, nose and throat problems.

ENT problems

Ear, nose and throat problems – like glue ear and snoring – 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 effects can seriously hamper speech and language development - something that is already slower than normal in children with Down’s syndrome.

Lesley Hilton visits an ENT clinic at Manchester Children’s Hospital and meets Patrick Sheehan, Consultant Paediatric ENT Surgeon.

One of the patients, 18-year-old James Cooper has long-term hearing problems and can’t wear conventional aids.

He's been fitted with a BAHA – a bone anchored hearing aid – which has a sound processor which clips on to 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 says the BAHA has made an enormous difference to his life.

Four-year-old Ella Amara had her adenoids removed after being diagnosed with sleep apnoea, which meant that she stopped breathing numerous times throughout the night, causing her oxygen levels to become dangerously low.

She's now had her tonsils removed which her dad Ted hopes will help Ella to sleep better - improving her concentration during the day.

Problems for adults with Down's

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.

Neuropsychiatrist Dr Vee Prasher tells Mark how conditions like dementia can affect adults with Down's syndrome much earlier than the rest of the population.

In Birmingham - where he works - people with Down's Syndrome are screened - so that any changes which could be symptoms of Alzheimers can be picked up more easily.

Next week: transplants
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