Methylphenidate, atomoxetine and dexamfetamine for ADHD in children and adolescents (NICE 2006)
Flat facial profile and eyes that slant upwards. Other facial features include smaller ears, a flat back of the head and protruding tongue.
People with the syndrome also tend to be shorter than average with poor muscle tone and have short, broad hands with a single crease across the palm.
Almost half of people affected have heart defects, some of which can be treated, some of which can’t. Many also have gut problems, which can make eating difficult and increases the risk of problems such as constipation and disorders of the thyroid gland.
Other physical problems include cataracts, hearing and sight problems, and a susceptibility to infections. Later in life there’s also an increased risk of leukaemia and Alzheimer’s dementia.
People with Down’s syndrome have varying degrees of learning disability, which may range from moderate to severe. Autistic spectrum disorders are also more common.
Maternal age and risk
20 years 1 in 1,500
25 years 1 in 1,300
30 years 1 in 900
35 years 1 in 350
40 years 1 in 100
45 years 1 in 30
The risk of conceiving a baby with Down’s syndrome is higher but many are lost early in the pregnancy through spontaneous miscarriage.
The chance of having a baby with Down’s syndrome increases with the age of the mother, especially over the age of 35. But as the majority of women have their children when they’re younger, most Down’s babies are born to younger parents.
QOF Codes LD2 – PJ0..
Should include a double appointment with a named G.P. at which their usual carer is present.
The review should include all health checks and surveillance offered to all patients with learning disability (particularly BMI and urinalysis). However, certain conditions are over-represented in adult patients with Down syndrome and the following additional and specific checks should be included:
adult onset mitral valve prolapse and aortic regurgitation
A single ECHO should be performed in adult life
Increased incidence of Upper Airway Disease including Obstructive Sleep Apnoea and Nasal Congestion, Lower Airway Disease, and Gastro-Oesophageal Reflux
TFTs, including thyroid antibodies, at least every 2 years – more frequently if accelerated weight gain, suspicious symptoms, or considering diagnosis of depression or dementia.
Audiological Assessment every 2 years (including auditory thresholds, impedance testing).
cataracts, glaucoma, keratoconus and refractive error
Full assessment by optician/optometrist every 2 years
If examination difficult, refer to specialist optician or ophthalmologist for assessment.
including high incidence periodontal disease
Annual Dental Review
Screen clinically by history and examination annually
Testing in those with suspicious symptoms or signs, including new-onset constipation, or pre-existing Thyroid Disease, Type 1 Diabetes Mellitus, or Anaemia.
Often presents as a deterioration in self help skills or behaviour change
Exclude Depression, Thyroid Disorder and Hearing Impairment.
Routine C-spine X-ray not recommended
Presents as acute or chronic cord compression
Reduced range of neck movement, torticollis
Deterioration in bladder / bowel control.
exclude hearing impairment and thyroid disorders.
Common in older adults, often as a result of bereavement and/or changes in living situation.
Influenza and Pneumococcal vaccination
Downs Syndrome Medical Interest Group Yorks Regional Genetics Service
Wendy Perez (2002)
People with intellectual disabilities need to have sufficient time to allow them to speak for themselves.
TIP ONE: Offer the first appointment to someone who has intellectual disabilities.
Some people with intellectual disabilities, because of the nature of their disability, have difficulty with crowds, lack of space or waiting for a long time. They may get distressed and upset other patients.
TIP TWO:Offer double consultation time
Take your time with the person with intellectual disabilities if this is necessary. People with intellectual disabilities need to be encouraged and empowered to speak for themselves. Try and work out how much understanding someone has at your first meeting, and talk to them in a way that they can understand. When you meet a person with intellectual disabilities who is unable to communicate, ask the supporter if they have any special ways in which they communicate. Use these special ways if you can. Also if there are relevant pictures that the person would recognise, use them.
TIP THREE:Speak to the person with intellectual disabilities first, and only then check out with the carer if something is not clear. Be sensitive to the person’s feelings and be encouraging.
Try and talk to the person with intellectual disabilities rather than to their carer or supporter. Sometimes the supporter takes over and answers questions for the person with intellectual disabilities. This should not happen; the person with intellectual disabilities should be allowed to answer for themselves unless they ask their supporter for help. It is OK for the person with intellectual disabilities to ask for help.
TIP FOUR:Try asking open questions or changing the question round to check out if you still get the same response.
People with intellectual disabilities may not understand the process of the consultation and therefore have no idea of what to expect or know how to participate. If the person cannot speak, ask the support worker how the person communicates and use their method or equipment.
TIP FIVE:Explain the process of the consultation before you start
• I need to listen to what you say about why you have come to see me
• I may need to look at the part of you that hurts
• I will think about what is the matter with you
• I will tell you what we will do next
People with intellectual disabilities may, because of previous experiences, be frightened of some of the equipment used in medical examination. Before you do anything to the person with intellectual disabilities, show them what you are going to do. Tell them why you are going to do it, and why you are using the instrument that you are going to use on them. Tell them if you think it might hurt. Then ask the person with intellectual disabilities if they understand what you are going to do.
TIP SIX: Use language that the client understands at a simple level, or use a communication aid, i.e. pictures or symbols.
Many people with intellectual disabilities will want to appear as if they understood what you have said to them and may well be able to repeat back what you said. This does not necessarily mean that they have understood! People with intellectual disabilities may understand common words in unexpected ways: e.g. for many people if you ask about their body, they think of their torso. If you fail, let the supporter answer, but always direct the question to the person with intellectual disabilities. The person should always be present if you are asking questions about them.
TIP SEVEN: Sometimes it may be useful to get information from supporters as well
Sometimes it is good to get information from the supporter as well as the person with intellectual disabilities. You can then see if you get the same information. There are often differences in the information that you get. It is good to hear both points of view.
TIP EIGHT: Always check out that the client has understood by asking them to explain to you in their own words.
People with intellectual disabilities are very unlikely to understand jargon or medical terminology, e.g. “Have your bowels worked today?”. Some people will respond to closed questions by saying “yes” because they want to please. Keep explanations simple. Do not relate them to other ideas (like plumbing!) as the person may take this literally.
TIP NINE: When you are talking about time, use events that the person might understand
Some people with intellectual disabilities have little or no understanding of time. This may challenge you to explain things to them in different ways, e.g. explaining how often to take medicines may need more than “twice a day”. For example, it is better to say: take this medicine with breakfast and supper.
TIP TEN: Do not assume that the person will understand the connection between the illness and something they have done or something that has happened to them.
People with intellectual disabilities may not make connections between something that has happened and their illness or their body and feeling poorly.
Mental Capacity Act (2005)