Studies have shown that people with learning disability have high levels of undetected health problems.1
A number of genetic syndromes are associated with learning disability and physical illness. Down's syndrome is the most common specific cause of learning disability in the UK and is associated with hypothyroidism, cardiac abnormalities such as atrial and ventricular defects and vascular heart disease and early-onset Alzheimer's dementia. Regular screening of thyroid function is essential.
Cerebral palsy is often associated with learning disability and may result in significant physical disability in the form of hemiplegia or quadriplegia.
The presence of a genetic syndrome can complicate the picture. Online Mendelian Inheritance in Man2 is an excellent resource for clinical information about rare syndromes.
Epilepsy is one of the most common disorders, especially in people with severe learning disability, with estimates of prevalence ranging up to 44 per cent, compared to 0.7 per cent in the general population.3
The co-existence of epilepsy is associated with increased mortality. Epilepsy is more likely to be complex and treatment resistant in this group.
Behavioural disturbance and psychiatric disorders are more common in people with epilepsy, but may also result from side-effects of antiepileptic medication such as vigabatrin, which is associated with aggression and psychiatric problems.
Other physical problems
Sensory impairment due to conductive hearing loss (ear wax or ear infections) and visual problems is common, often unrecognised and may contribute to communication difficulties.
Incontinence can occur in people with more severe learning disability, with increasing age, but a sudden presentation should raise the possibility of UTI or another treatable cause.
Respiratory disease contributes to approximately 50 per cent of deaths in this group,4 with those who have multiple health problems and those who are immobile, underweight and susceptible to food aspiration being most at risk.
Respiratory infections are the most common cause of death, particularly in people with severe learning disability.
People with learning disability are more likely to be at extremes of weight. Obesity is common in this group and may place people at increased risk of heart disease. Support workers can be helpful in enabling people to access health initiatives, such as free gym classes.
People with learning disability are also more likely to be underweight and malnourished, due to the higher rates of oesophageal reflux, swallowing and feeding problems.
There is also a higher prevalence of Helicobactor pylori infections, which may be due to the higher prevalence of institutionalisation, lower socio-economic status and poorer hygiene. Gastric carcinoma is also more common.
Orthopaedic problems are also more frequent, such as atlanto-axial instability in Down's syndrome, which can lead to muscle weakness and paralysis. A cervical X-ray is recommended in those presenting with neurological symptoms. Osteoporosis and joint contractures are also common.
GPs are often asked to review patients who are presenting with ‘challenging behaviour'. This term refers to behaviour that is considered to be culturally inappropriate and at an intensity and frequency that places the individual or others at risk and prevents the individual from accessing community activities.
This may include self-harming (biting, head banging), injury to others (hitting, pushing, punching) verbal abuse and sexually inappropriate behaviour (stripping, masturbating). The term is often used inappropriately to describe any undesirable behaviour.
Challenging behaviour can be caused by factors, including medical illness, psychiatric disorder, behavioural phenotypes (behaviours that are associated with a particular syndrome, such as self-injurious behaviour in Lesch-Nyhan syndrome) and changes in the social environment (abuse, bereavement).
It is important to rule out a medical cause before investigating other causes.
Mental health problems are more common in people with learning disability. There is a higher prevalence of schizophrenia, bipolar disorder, depression and attention deficit hyperactivity disorder.
People with mild learning disability usually present in the same way as those who are not learning disabled. However, diagnosis in people with severe learning disability can be a challenge. Changes in biological symptoms such as sleep, appetite and energy levels and changes in behaviour such as aggression and self-injurious behaviour may indicate an affective episode.
Psychotic delusional symptoms tend to be less elaborate and are more likely to be transient. Auditory hallucinations are often more common than delusions.
It is important to bear in mind the association between the metabolic syndrome and antipsychotic medication and therefore regular monitoring of blood glucose, triglycerides and cholesterol is essential.
Challenges to treatment include issues related to consent and capacity, failure of clinicians to adequately explain the purpose and dosing of medication, difficulties experienced by patients in reading instructions on medication and interactions with OTC drugs.
The involvement of carers and the provision of medication blister packs or dosette boxes can be helpful.
Annual health checks in people with learning disability are being gradually introduced in many GP surgeries.
Dr Ali is specialty registrar in psychiatry of learning disabilities and Dr Hall is consultant psychiatrist at Tower Hamlets Community Learning Disability Service, East London. Dr Hall is honorary clinical senior lecturer at Queen Mary, University of London
1. Morgan C L, Ahmed Z, Kerr M P. Health care provision for people with learning disability. Record linkage study of epidemiology and factors contributing to hospital care uptake, Br J Psychiatry 2000; 176: 37-41.
2. John's Hopkins University. OMIM - Online Mendelian Inheritance in Man
3. Bowley C, Kerr M. Epilepsy and Intellectual Disability. J of Intellect Disabil Res 2000; 44: 529-43.
4. Gustavson K-H, Umb-Carlsson O, Sonnander K. A follow up study of mortality, health conditions and associated disabilities of people with intellectual disabilities in a Swedish county. J Intellect Disabil Res 2005; 49: 905-14.