Adulthood

Annual Health Checks for ADULTS with Down Syndrome

Checklist: This checklist of things that should be included as part of a comprehensive and thorough Annual Health Check, specific for adults with DS, can be downloaded.

• https://www.downs-syndrome.org.uk/wp-content/uploads/2023/10/Annual-Health-Check-Checklist-27.10.2023.pdf

• The Royal College of GPs have also produced a more generic annual health checklist for people with learning disabilities - step by step toolkit. In the resources section there is also a pre-health check questionnaire for people with a learning disability.

• https://www.choiceforum.org/docs/circ.pdf

• https://dimensions-uk.org/wp-content/uploads/GP-Health-check-Step-by-Step-Guide-to-LDAHCs.pdf

The GP Practice should pass on 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.

Hopefully, through the annual Enhanced Reviews the GP has undertaken, since the young person turned 14 years of age, means there is a strong doctor-patient relationship already built up, the young person knows the practice, GP and the practice nurse and understands what happens at these appointments already.  This is an ideal scenario but there may be times where this has not happened eg if the person has moved GPs and so these guidelines and checklists are extremely important to read and use.

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.

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.

Tests in adulthood include Thyroid function tests (every year throughout life) and possibly the following according to clinical need:

• Full blood count (FBC) • C-reactive protein • Urea and electrolytes (Kidney function) • Liver 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.

ROYAL COLLEGE OF GPs: Syndrome Specific Medical health check guide – Down Syndrome

The survival of people with Down Syndrome has improved dramatically in the past few decades, largely as a result of improved surgical repair of congenital heart defects. The median age at death is now the mid-50s, compared with less than 10 years of age in the 1970s. Respiratory infection and dementia are now leading causes of death in adults with Down Syndrome.   People with Down Syndrome generally do well with consistent schedules and can blossom in a setting of predictable routine. This also includes dietary habits and physical activity that prevent obesity.

Resources Managing the care of adults with Down Syndrome, Clinical Review, BMJ 2014:

• Click to view article on BMJ 

History

As with all people with LD focus on an assessment of:

• eyesight and hearing

• eating +/-feeding

• bowel and bladder function

• behavioural problems and decline in skills. The differential diagnosis for a decline in skills includes: depression, changes to routines, life events, hypothyroidism, sleep apnoea, hearing loss, vision loss, dementia, seizure disorder, developmental regression. (See Appendix 42 and 44)

Important causes of unexplained weight loss include: coeliac disease and gastroesophageal reflux or dyspepsia, and swallowing problems.

Well over 50% of people with Down Syndrome have significant hearing impairment (HI), 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 preventable cause of HI. The main cause of conductive loss is persistent otitis media with effusion (OME) (glue ear). 

About two thirds have problems affecting their eyesight eg refractive errors, cataract, glaucoma and keratoconus.

Obesity is widespread in people with Down Syndrome (89-95%), likely due to lower activity levels and a lower metabolic rate, making exercise and energy restriction critical in maintaining a healthy weight. 

One third, if not the majority of those with Down Syndrome, have obstructive sleep apnoea (OSA), which may be due a small jaw and upper airways combined with macroglossia, as well as blocked nose and most of all obesity. OSA can occur at any age and cause daytime sleepiness, behavioural change, loss of skills and other symptoms suggestive of depression or dementia. Complete an Epworth sleepiness score and refer for sleep studies. Weight loss if obese as well as CPAP mask overnight can dramatically improve the symptoms of OSA and the wellbeing of patients.

Pneumonia, aspiration pneumonia and flu are common causes for admission and the second most common cause of death of people with Down Syndrome. All adults with Down Syndrome are eligible for Influenza and Pneumococcal immunisation.

Swallowing difficulties (dysphagia) can present with coughing, gagging, sighing, burping, or throat clearing during mealtimes, and cause choking with aspiration. Evaluation consists of a modified barium swallow study in conjunction with a SALT assessment.

Gastro-oesophageal reflux is also common in people with Down Syndrome. Like dysphagia, it can present with weight loss, vomiting, decline in skills or behavioural changes. 

Mental health problems affect 25-30%, mostly depression, anxiety, obsessive compulsive tendencies, and behavioural issues. Depression is common in older adults, often triggered by bereavement or changes in their living situation. Discriminating depression from dementia can be difficult but is important, since the former as amenable to medical therapy. Symptoms more suggestive of depression include withdrawal and decreased appetite and speech. Autism is ten times more common than in the general population; often requiring specialist input.

People with Down Syndrome have an increased risk of Alzheimer’s dementia, with an earlier onset than in the general population. The prevalence is 10-22% in their 40s; 2025% in their 50s; and 40-77% in those over 60 years, contributing to one third of deaths. Although donepizil and memantine are increasingly used, there is currently no good evidence demonstrating their effectiveness in this population. They appear to be beneficial for some patients, however, hypotension, bradycardia or ataxia may require their discontinuation in some.

Women with Down Syndrome have an earlier menopause: around 44 years on average. 

Down Syndrome is an independent risk factor for osteoporosis, further increased by early menopause, anti-epileptic medication and other risk factors. There is a high risk of fractures in the over 50s. 

Hypothyroidism affects 15-37%, increasing with age. Hyperthyroidism is also more common than in the general population.

Diabetes: Increased prevalence of Type 1 diabetes and Type 2 Diabetes associated with obesity. The onset of type 2 diabetes is often at a younger age than the general population and can present with subtle symptoms. (Appendix 40)

Skin conditions: Dry skin and eczema are particularly common and are managed in the usual way. 

Cervical spine: Atlanto-axial instability has mostly been described in children. In adults, degenerative changes and cervical spondylosis are more common, with a prevalence of 35-70%. Routine cervical spine X-ray is not recommended, but we need to be alert to signs of spinal stenosis with cord compression and assess these promptly.

Congenital heart disease is common and usually treated surgically in early childhood. In adults, consider the possibility of acquired valve disease, specifically mitral valve prolapse (in 45%, often with mitral regurgitation) and aortic regurgitation. It may be asymptomatic and a murmur may not always be audible. The incidence of coronary artery disease in adults with Down Syndrome is decreased compared with the general population.

Cancer – with the exception of childhood leukaemia, the incidence of cancer - whether hematologic or solid tumours - is also decreased in all age groups with Down Syndrome, apart from testicular cancer in males. Full blood counts frequently show leukopenia, macrocytosis and mild polycythaemia, which do not appear to be of clinical relevance, but B12-deficiency and hypothyroidism should be excluded and the rare possibility of adult leukaemia be borne in mind. Teaching (and examining) young people (if possible) and carers how to self-check and examine the testes in males and breasts in females is extremely important.

Examination

Full assessment by optician/optometrist at least every 2 years.  If examination is difficult, refer to specialist optician or ophthalmologist for assessment.

Otoscopy annually - gentle examination as short auditory canals.  Auditory assessment every 2 years has been recommended (including auditory thresholds, impedance testing).

Dental - Dental Review at least annually, as periodontal disease is common.

Respiratory - Examine nose for blockage, the oral cavity, and lungs for lower airway disease. 

Sleep - ask about daytime sleepiness and sleep apnoea. Consider Epworth sleepiness score and sleep studies.

Cardiovascular - Auscultation of the heart annually.  A single Echocardiogram should be performed in adult life if there are no concerns.  Echocardiogram and cardiac opinion should be arranged for new murmurs and signs of cardiac failure.  Adults with a pre-existing structural abnormality should be informed if applicable prophylactic antibiotic protocols.

Gastrointestinal-

Look for signs of oesophageal reflux.  Ask about swallowing problems and aspiration.

Ask for signs and symptoms of Coeliac Disease annually - Coeliac antibody test in those with suspicious symptoms or signs: disordered bowel function with loose stools or new onset constipation, abdominal distension, general unhappiness and misery, arthritis, rash suggesting dermatitis herpetiformis.  Coeliac antibody test in those with existing thyroid disease, diabetes or anaemia.

Endocrine - Thyroid function blood tests (TFTs) including thyroid antibodies every 1 year. ¨ Check TFTs if weight gain or loss, generally unwell, possible diagnosis of depression or dementia. Consider HbA1c annually (diabetes defined as greater than 48 mmol/mol) and finger prick blood glucose.  

Genitalia - Teaching (and examining) young people (if possible) and carers how to self-check and examine the testes in males and breasts in females is extremely important. (see appendix 36)

Menopause – Ask women over 40 about hot flushes and menopausal symptoms.

Osteoporosis screening should start in their 40s. Screen early especially in the presence of risk factors, such as poor mobility or non-weight bearing status, antipsychotic or anti-epileptic medication, poor nutritional status, or early menopause.

Orthopaedic - Ask about signs of spinal stenosis associated with atlanto-axial instability, which may be acute or chronic, such as: hyperreflexia, ataxia, clonus, unsteadiness, deterioration in bladder or bowel control, or quadriparesis, and consider urgent neurosurgical assessment if present.

Mental Health – From the age of 40, ask about symptoms of dementia, which include: loss of skills and independence, no longer remembering or managing routines, need for prompting, appearing confused, change in behaviour, also urinary and/or faecal incontinence, ataxia, seizures, impaired mobility. Ask family members and/or carers about these symptoms. 

The differential diagnosis of a decline in skills and change of behaviour includes:

• Hypothyroidism

• Sleep apnoea or other sleep problems

• GORD or coeliac disease

• Depression or other mental health problems

• Hearing or visual loss

• Dementia

• Iatrogenic (medication related) causes

• Seizures

• Environmental changes such as routine or life event such as bereavement

• Abuse

Early regression in Adolescents and Adults with Down Syndrome (See Appendix 42)

Consider this within dual diagnosis or history of regression.  Lead professionals in this field include:-

• Dr Shahid Zaman now leads the DS research in Cambridge and he is about to start a study on regression in people with DS.  Systematic Review – “A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome,” Madeleine Walpert, Shahid Zaman and Anthony Holland. 

• Andre Strydom KCL, London - https://www.kcl.ac.uk/people/professor-andre-strydom