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Gaps found in Down's care

Patients with Down's syndrome are not receiving sufficient levels of care from GPs for preventable complications, a new study concludes.

Researchers warned it was

essential GPs monitored patients with the condition and made a series of recommendations for minimum standards of care, writes Gareth Iacobucci.

Almost half of 64 adults with Down's syndrome had not seen a doctor in the previous year, with a third having gone three years or more without medical assessment.

Nearly a third of patients in the study, published in January's British Journal of General Practice, had a major cardiac condition and 20 per cent were obese – with more than half of these having had no thyroid assessment in the past five years.

The researchers warned patients with Down's syndrome had high rates of a series of

preventable diseases such as heart disease, hypothyroidism, coeliac disease and obesity, and called for national guidance on managing the condition.

They suggested all adult patients should be assessed by echocardiogram and those with thyroid disorders should undergo regular biochemical testing .

Dr Alex Henderson, who conducted the research as a specialist registrar in clinical genetics at the University Of Newcastle, called for a 'national debate' on introduction of regular health check-ups for Down's patients. 'Many individuals do not have access to healthcare checks, despite the high frequency of medical complications.'

Dr Anne Boucherat, consultant in psychiatry at Barnstaple Health Centre, Exeter, said GPs were only gradually starting to tag patients with learning disabilities: 'If GPs are not aware that a patient has a learning disability, they may not actively be followed up.'

In Wales, GPs are now funded through a direct enhanced service to monitor patients with learning difficulties, although Dr Andrew Dearden, GPC Wales chair, said there had been some teething problems.

'It presented some challenges because social services wouldn't tell us who they were, but it's slowly settling. There's no doubt that this sort of work picks up things that haven't previously been noticed.'

Key Down's care standards

Cardiac disease

Examination with a single echocardiogram should be performed in adult life

Thyroid disorders

Biochemical testing should be carried out at least once every two years throughout life

Hearing impairment

Lifelong audiological surveillance is essential

Ophthalmic problems

Vision of individuals with

Down's syndrome should be checked at least every two years throughout life

Coeliac disease

Individuals should be clinically screened by history and examination on an annual basis


Appropriate guidance should be given regarding diet, and patients should be helped to exercise


Depression should be excluded before a diagnosis of Alzheimer's is made

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