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  • Ideally the following things should be included as part of a comprehensive and thorough annual health check

What to expect from an annual health check

  • Your GP practice should send/give you a pre-health check questionnaire. This will help prepare the patient and carer for their health check appointment, reduce anxiety and improve effectiveness of appointment

How long will the health check take?

  • The appointment should be carried across two separate 30 minute appointments. One with the practice nurse followed with an appointment with the patient's usual doctor

Routine blood tests

  • Try and arrange any routine blood tests at least 1 week before the health check
  • Some patients may find blood tests difficult and will require extra explanation and support
  • The blood should be screened for the following:
    • full blood count (FBC)
    • C-reactive protein or viscosity
    • urea and electrolytes (kidney function)
    • liver function tests
    • thyroid function tests
    • random glucose and glycosylated haemoglobin (HbA1c)
    • lithium and anti-epilepsy drug (AED) levels—check level before morning dose ('trough level')
    • calcium and vitamin D levels if on AED, poor sun exposure, or from a black or ethnic minority
    • FSH in women who have not had a period for 6 months
    • consider prostate specific antigen in men over 50 years of age
  • For an example of an easy to read pre-health check invitation and information sheet, visit www.rcgp.org.uk/learningdisabilities/~/media/Files/CIRC/CIRC-76-80/CIRC_Before_each_individual_health_check.ashx
  • During the annual health check the following areas will be checked for all people with a learning disability:
    • assessment of feeding, bowel and bladder function
    • assessment of behavioural disturbance
    • assessment of vision and hearing

Down's syndrome specific checklist

  • The following should also be checked for all adults with Down's syndrome
  • Monitor for any loss of independence in living skills, behavioural changes and/or mental health problems

Audio visual—eyes and ears

  • Ophthalmic problems such as cataract, glaucoma, keratoconus, and refractive errors need to be checked:
    • full assessment by optician/optometrist at least every 2 years
    • if examination difficult, refer to specialist optician or ophthalmologist for assessment

Audiological problems: hearing impairment and deafness

  • Otoscopy—(gentle examination as short external auditory canals)
  • Audiological assessment every year (including auditory thresholds, impedance testing)
  • Well over 50% of people with Down's syndrome have significant hearing impairment, which can range from mild to profound. Sensorineural and/or conductive loss may be present at any age. If undetected it is likely to be a significant cause of preventable secondary disability. The main cause of conductive loss is persistent (otitis media with effusion, glue ear)


  • Annual dental review as periodontal disease is common
  • Look for signs of oesophageal reflux

Cardiovascular examination for adults

  • Auscultation—particularly if imminent dental procedure
  • A single echocardiogram should be performed in adult life
  • Adults with a pre-existing structural abnormality should be informed of current prophylactic antibiotic protocols

Coeliac disease

  • Screen clinically by history and examination annually
  • Testing in those with suspicious symptoms or signs, including:
    • disordered bowel function tending to diarrhoea or to new onset constipation
    • abdominal distension
    • general unhappiness and misery
    • arthritis
    • rash suggesting dermatitis herpetiformis
    • test all those with existing thyroid disease, diabetes or anaemia

Endocrine system

  • There is an increased prevalence of hypothyroidism at all ages, rising with age with a small increase in hyperthyroidism
  • Thyroid function blood tests (TFTs), including thyroid antibodies at least every 2 years
  • Perform TFTs more often if accelerated weight gain, generally unwell, possible diagnosis of depression or dementia
  • Type 1 diabetes is also relatively more common (2%) and should be checked for


  • Due to congenital heart disease and reduced immunity most adults are eligible for influenza and pneumococcal vaccination

Musculoskeletal atlanto axial instability

  • Most cases have been described in children with longitudinal studies of children and adults showing a high degree of stability both clinically and radiologically
  • Routine cervical—spine X-ray not recommended
  • It can present as acute or chronic cord compression:
    • neck pain
    • reduced range of neck movement, torticollis
    • unsteadiness


  • Alzheimer's type dementia (clinical onset uncommon before 40 years)
  • Check that people with a diagnosis of Alzheimer's disease have had depression, hypothyroidism, and deafness excluded firstly
  • Symptoms of dementia: decline in function, memory loss, ataxia, seizures or urinary and/or faecal incontinence
  • Psychological problems often present as deterioration in self-help skills or behaviour change. Need to exclude depression, thyroid disorder, and hearing impairment
  • Depression is common in older adults, often as a result of bereavement and/or changes in living situation


  • Examine nose, oral cavity and lungs:
    • blocked nasal passages
    • lower airway disease
  • Ask about sleep apnoea which may be due to a hypoplastic pharynx or nasal congestion


  • Check for hot flushes and menopausal symptoms in women over 40 as they have an earlier onset of menopause compared to women in the general population at 44 years of age. The symptoms of menopause may look similar to those of dementia. Women with Down's syndrome reach the menopause approximately 6 years earlier than the general population and are more susceptible to osteoporosis particularly if they are inactive

Other conditions to check for

  • Blood dyscrasias
  • Skin disorders
  • Obesity—check weight changes

DSA Health Book for people with Down’s syndrome


full guideline available from…
Down's Syndrome Association, Langdon Down Centre, 2A Langdon Park, Teddington, Middlesex, TW11 9PS (0333 1212 300)
Email—info@downs-syndrome.org.uk Website— www.downs-syndrome.org.uk

Down's Syndrome Association. Annual health checks for adults with Down's syndrome.
First included: November 2015.