What to Expect: Adulthood

Annual Health Checks for Adults with Down Syndrome

This list of things that should be included as part of a comprehensive Annual Health Check, specific to adults with DS, can be downloaded:

• List of Annual Health checks on the Down's Syndrome UK website.
• The Royal College of GPs have also produced a more generic annual health checklist for people with learning disabilities - a step-by-step toolkit. In the resources section, there is also a pre-health check questionnaire for people with a learning disability. Download it here.

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 the effectiveness of the appointment.

Hopefully, through the annual Enhanced Reviews the GP has undertaken, since the young person turned 14 years of age, this 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 when 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 out across two separate 30-minute appointments. One with the practice nurse followed with an appointment with the patient's usual doctor.

Blood Tests

Try to 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 are low if on AED, poor sun exposure or if 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 - Down Syndrome Specific Medical Health Check Guide

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 the 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.

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, and developmental regression. (See Additional Diagnoses and Acute Presentations to A&E).

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 to 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 in obese individuals, as well as CPAP mask overnight, can dramatically improve the symptoms of OSA and the well-being 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 it is important, since the former is 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.

Down Syndrome Regression Disorder (DSRD). Regression is a term that is used to describe the loss of previously acquired developmental skills in an individual. This can be in the areas of daily living, language, motor abilities/function, or social interaction. Regression typically occurs in adolescence/young adulthood and can occur over weeks to months or more quickly. There are some similarities with the presentation of autism and dementia; however, the age of the person would be the key indicator. Autism would usually be apparent at an earlier age, and dementia at 40+. Regression can also be referred to as Down's syndrome regression disorder (DSRD), Down's syndrome disintegrative disorder (DSDD) or unexplained regression in Down's syndrome (URDS), and these terms are sometimes used interchangeably. The cause of regression is thought to differ among individuals, and there is ongoing research to look at causation and treatment options. For more information, see: Regression in Down Syndrome.

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 in the general population and can present with subtle symptoms. (See Diabetes and Down Syndrome).

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 - Except for 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 should 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 an optician/optometrist at least every 2 years. If examination is difficult, refer to a specialist optician or ophthalmologist for assessment.
• Otoscopy annually - Gentle examination of the 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 the nose for blockage, the oral cavity, and the lungs for lower airway disease.
• Sleep - Ask about daytime sleepiness and sleep apnoea. Consider the 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. An 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 of 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. This requires repeating every 3 years.
• Endocrine - Thyroid function blood tests (TFTs), including thyroid antibodies, every 1 year. Check TFTs for 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 Puberty, Contraception, Sex and Relationships).
• 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.
  • Down's Syndrome Scotland: Let's talk about the 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 events, such as bereavement.
  • Abuse.
• Early regression in Adolescents and Adults with Down Syndrome (See Additional Diagnoses). Consider this within dual diagnosis or history of regression: See: A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome.