Health Series

Diabetes

A Down’s Syndrome Association publication

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The Down’s Syndrome Medical Interest Group (DSMIG)

This resource has been produced in collaboration with the Down’s Syndrome Medical
Interest Group (DSMIG).

DSMIG was launched in 1996 and is a registered charity. It is a network of healthcare

professionals – mainly doctors – from the UK and Republic of Ireland whose aim is to
share and disseminate information about the medical aspects of Down’s syndrome and
to promote interest in the specialist management of the syndrome.

We know that children with Down’s syndrome are four times more likely
to develop diabetes than other children, so about 1 child in 60 with
Down’s syndrome will also develop diabetes. It has been reported that,
as a group, children with Down’s syndrome tend to develop diabetes
earlier than other children in the general population. Diabetes occurring
in children with Down’s syndrome is most likely to be type 1 diabetes,
which is a condition where the immune system attacks and destroys the
insulin producing cells in the pancreas. However, some people with
Down’s syndrome will have type 2 diabetes. In this resource we will
describe the differences between type 1 and type 2 diabetes and provide
some information about the treatments.

There should not be any difference in the care given to people with or
without Down’s syndrome, except that those with Down’s syndrome are
likely to require a greater degree of supervision and monitoring by
health professionals and carers.

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What is diabetes?
Much of the food we eat is turned into glucose to
provide our bodies with energy. The pancreas, an Main symptoms:
organ that lies near the stomach, makes a hormone
called insulin to allow this glucose to be used. When Increased thirst (polydipsia)
you have diabetes, your body either doesn’t make
enough insulin or can’t use its own insulin as well as Passing urine more often –
it should. This causes glucose to build up in your especially at night (polyuria)
blood, which acts on many organs to produce the
Extreme tiredness
symptoms of the condition. In the long-term, if it is
not carefully controlled, diabetes can cause health Weight loss (in Type 1 diabetes)
complications in a variety of organs, including the
heart, eyes and kidneys. Blurred vision

Tests for diabetes

Blood glucose meters can quickly measure the amount of glucose in a drop of blood from
a finger prick sample. Blood glucose levels should be between 4-6 millimoles/litre.
People with some or all of the symptoms (e.g. with increased thirst, passing urine more
often, weight loss, blurring of vision) will require a single blood glucose test that may be
taken on an overnight fasting (i.e. no food or drink for at least 10 hours before) or
daytime non-fasting sample. To diagnose diabetes, the blood glucose concentration must
be 7 in the fasting sample or 11.1 in the non-fasting sample. Diagnosis in people who
don’t have symptoms requires two blood samples on different days. If the results are not
clear, an oral glucose tolerance test can provide further information. This involves taking
a drink of glucose (up to 75gms – the amount is determined by the weight of the person
being tested) after fasting overnight for 10-14 hours and measuring blood glucose levels
at the start and after 2 hours to test how well the insulin producing cells in the pancreas
are working.

Types of diabetes

There are two major types of diabetes: Type 1 and Type 2

Type 1 diabetes
Type 1 Diabetes is caused when the immune system mistakenly recognizes the beta cells
in the pancreas, which makes insulin, as foreign invading cells and destroys them. This is
called autoimmunity. About 10% of cases of diabetes in the UK are type 1 diabetes. The
condition generally develops in a younger age group, usually children or young adults,
and may occur even earlier in those with Down’s syndrome. The signs and symptoms will
usually be very obvious, developing quickly, usually over a few days or weeks. All people
with type 1 diabetes require insulin injections to stabilize blood sugar levels. Pen
injectors can be used easily, by dialling in the amount of insulin needed.

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Treatment of Type 1 diabetes

Some children develop a relatively serious medical condition termed diabetic

ketoacidosis (DKA). These children are often dehydrated and have too many ketones in
their blood. Doctors will gradually correct the dehydration and ketone excess over about
48 hours with intravenous fluids and insulin. Once stable or if not showing symptom of
ketoacidosis, they are placed on daily insulin injections given under the skin
(subcutaneous). Usually people are given four injections a day to keep blood sugars as
stable as possible. Diabetes specialists and families try to keep blood glucose levels
between 4-8mmol/l for as much as the time as possible, but it is difficult for someone
with diabetes to manage this all the time. There is evidence that the closer patients can
keep their blood sugars to non-diabetic levels of 4-6mmol/l, the more they can reduce
the likelihood of damage to other organs in the body.

In order to keep an eye on the day to day management of diabetes, children with type 1
diabetes and their families are encouraged to check blood glucose levels about four
times a day using finger-prick blood tests and a glucose meter, most of which have
memories to record results so that they can later be reviewed by a carer or health
professional. In this way insulin treatment can be adapted to ensure blood glucose is not
running too high (hyperglycaemia) or too low (hypoglycaemia). Doing regular blood tests
to estimate the correct dosage of insulin is very important.

Many people with Down’s syndrome can be taught to manage their diabetes
independently, or with some support from carers. They can be taught to check their
blood glucose levels using a glucose meter, and to give their own injections. As well as
teaching the person affected, their carers, friends and family can be taught to recognize
the symptoms of hypoglycaemia and treat them with glucose or glucagon.

In recent years, there has been a move to use insulin pumps in some children with
diabetes. The pumps give very small doses of continuous insulin that can be
programmed to vary on an hour by hour basis. At meals, a dose of insulin can be dialled
up and given to cover the carbohydrate content of that meal. Pumps are especially
useful in very young children and those in whom hypoglycaemia (low blood sugars),
because of treatment difficulties, are causing significant management problems. The site
of insulin pump infusion lines need to be changed on a 2-3 day basis, meaning fewer
injections, although regular blood testing is still mandatory. Insulin pumps should be
considered on a case by case basis for children with diabetes and Down’s syndrome.

Who is at risk of Type 1 diabetes?

Currently there is no way of predicting who will develop type 1 Diabetes, or of

preventing it. A combination of different genes and some factors in our environment that
are, as yet, incompletely identified combine early in life to cause type 1 diabetes.

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Autoimmunity

In many cases diabetes occurs alongside problems with thyroid function. This may be
hypothyroidism (underactivity) or less commonly hyperthyroidism (over activity) of the
thyroid gland. This is because both problems are caused by the body producing
antibodies which destroy vital tissues, the thyroid gland in hypothyroidism and insulin
producing cells of the pancreas in diabetes. This autoimmune process seems more likely
to develop in people with Down’s syndrome, although the reasons for this are not yet
clear. Other autoimmune problems such as alopecia and vitiligo may also co-exist.
Markers in the blood called antibodies are a sign that a person is at increased risk of
autoimmune disorders. It is not until about 80% of insulin producing cells have been
destroyed that the clinical symptoms of diabetes appear. There is also an association
between Type 1 diabetes and an increased risk of coeliac disease (gluten intolerance), in
children with and without Down’s Syndrome.

Genes for type 1 diabetes

There has been a huge increase in information regarding the genes underlying type 1
diabetes. It is now known that combinations of more than 40 genes contribute to
susceptibility to the condition. By far the most important genes are called HLA genes and
they help control the immune system. A gene on chromosome 21 has been identified.
However, we do not know if this discovery has significance in adding to what we know
about diabetes in people with Down’s syndrome, trisomy 21, who have 3 copies of this
gene.

Type 2 diabetes
Type 2 diabetes is the most common type of diabetes in the general population. It
occurs in an older age group, typically those over 40, when the pancreas does not
produce enough insulin to meet the body’s needs or the insulin is not used effectively by
the body’s cells. The condition develops more insidiously and is commonly associated
with lifestyle factors.

Treatment of type 2 diabetes

Type 2 diabetes is often connected to being overweight and this can also be the case in
Down’s syndrome where managing weight in later life often seem to be a problem.
Healthy eating, weight control and exercise can help with prevention. If diabetes
develops, a sensible change to healthier eating, with advice from a dietetic specialist,
and increased physical activity should improve blood glucose levels and cause the
diabetes to improve. Some type 2 diabetics require tablets, in addition to diet. There are
several different types of tablets that can be tried. Insulin injections might be considered
in some people.

The effects of diabetes

In addition to symptoms caused by high blood glucose levels, such as thirst and passing
more urine, diabetes can cause harmful effects to other areas of the body. Long term
problems can occur with the eyes, feet, kidneys, heart and blood vessels. Regular checks

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should be carried out to look for early signs of these complications so they can be
treated, and to ensure the best control of blood sugar possible.

People with Down’s syndrome and diabetes should have particularly careful diabetic
management, for support with trying to maintain optimum blood glucose control and to
minimise the risk of developing further medical complications. The good news is that
evidence suggests that children with Down's syndrome and type 1 diabetes often achieve
very good blood glucose control.

Annual health checks for people with Down’s syndrome

(aged 14 years plus)

In the past people with learning disabilities have not had equal access to healthcare
compared to the general population. This, amongst other reasons, has given rise to
poorer mental and physical health and a lower life expectancy for people with learning
disabilities. Free annual health checks for adults with learning disabilities, with their GP,
were introduced in 2008 as a way to improve people’s quality of life.

The annual health check for people with learning disabilities is a Directed Enhanced
Service (DES). This is a special service or activity provided by GP practices that has been
negotiated nationally. Practices can choose whether or not to provide this service. The
Learning Disability DES was introduced to improve healthcare and provide annual health
checks for adults on the local authority learning disability register. To participate in this
DES, staff from the GP practice need to attend a multi-professional education session run
by their local Trust. The GP practice is then paid a sum of money for every annual health
check undertaken.

Who can have one?

Annual health checks have been extended to include anyone with learning disabilities
aged 14 years or above. So anyone with Down’s syndrome aged 14 years or over can
have an annual health check.

The benefits of annual health checks

 additional support to get the right healthcare

 increased chance of detecting unmet, unrecognised and potentially treatable health
conditions
 action can be taken to address these health needs.

How to get an annual health check

 The GP may get in touch with the person with Down’s syndrome to offer an annual
health check but this doesn’t always happen.
 A person with Down’s syndrome and/or a supporter can ask their GP for an annual
health check. You do not need to be known to social services to ask for an annual
health check.

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Not all GPs do annual health checks for people with learning disabilities but they should
be able to provide details of other GPs in your area who offer this service.

What happens next?

 The GP practice may send out a pre-check questionnaire to be filled out before the
annual health check takes place.
 The GP may arrange for the person with Down’s syndrome to have a routine blood
test a week or so before the annual health check.

Who attends the annual health check?

If the person with Down’s syndrome (age 16 years or over) has capacity and gives their
consent, a parent or supporter can attend the health check as well.

How long should an annual health check be?

Guidance from the Royal College of GPs suggests half an hour with your GP and half an
hour with the Practice nurse.

What areas of health should be looked at as part of the annual health check?

We have produced a check list for GPs which contains information about what should be
included as part of a comprehensive and thorough annual health check. This includes a
list of checks that everyone with a learning disability should undergo as part of an
annual health check and a list of checks specific to people with Down’s syndrome. You
can find the health check list at the ‘annual health checks’ section of our website under
‘families and carers and ‘health and wellbeing’.

Diabetes should be considered as part of a comprehensive and thorough annual health

check.

What happens after the annual health check?

Your GP should tell you what they and the nurse have found during the annual health
check. You should have a chance to ask any questions you have. Your GP may refer you
to specialist services for further tests as appropriate. Your GP should use what they
have found during your annual health check to produce a health action plan. This should
set out the key actions agreed with you and (where applicable) your parent or carer
during the annual health check. Your GP has to do this as part of the annual health check
service.

Information about health issues for GPs

There is information at our website for GPs about some of the more common health
conditions seen in people with Down’s syndrome. You will find this information at the
‘annual health checks’ section of our website under ‘families and carers and ‘health and
wellbeing’.

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GPs learning disability register

People with learning disabilities experience poorer health compared to the rest of the
population, but some ill health is preventable. Over one million people in the UK have a
learning disability but only 200,000 are on their GPs learning disability register.

We know that people with a learning disability often have difficulties accessing health
services and face inequalities in the service they receive. The Government is asking
parents and supporters to speak to their GP and ensure their sons/daughters or the
people whom they support are registered. It is hoped that this drive will ensure better
and more person centered health care for people with learning disabilities.

The Learning Disability Register is a record of people with a learning disability who are
registered with each GP practice. The Register is sometimes referred to as the Quality
Outcomes Framework (QOF) Register.

If you are not sure you are on the Register, you can ask the receptionist at your GP
Practice to check for you.

The doctor may have made a note on the record that a person has Down’s syndrome but
this does not automatically mean they have been put on the Register. When you speak
to the GP about being registered, the needs and support of the person in health settings
can be discussed. This information can be entered on the person’s Summary Care Record
(SCR) so that all health professionals at the practice know about their needs and how
best to support them.

If the person is over 16 years of age or older, they must give their consent (see section
in this resource about the Mental Capacity Act 2005):

 for information about their support needs to be added to their SCR

 to which information can be shared and with whom

It’s never too early (or late) to join your GP’s Learning Disability Register; you
can join at any age. It’s a good idea for children with a learning disability to
join the learning disability register at an early age. This means adjustments
and support can be put in place before they reach adult services.

Reasonable adjustments in health care

You may have heard of the term ‘reasonable adjustments’ and wondered what it meant.
Since the Disability Discrimination Act (1995) and the Equality Act (2010) (this does not
apply to Northern Ireland) public services are required by law to make reasonable
adjustments to help remove barriers faced by people with disabilities when trying to use
a service. The duty under the Equality Act to make reasonable adjustments applies if you

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are placed at a substantial disadvantage because of your disability compared to people

without a disability or who don’t have the same disability as you.

So for people with physical disabilities reasonable adjustments may include changes to
the environment like ramps for the ease of wheelchair users. For people with learning
disabilities ‘reasonable adjustments’ may include easy read information, longer
appointments, clearer signs at the practice, help to make decisions, changes to policies,
procedures and staff training.

If a patient with Down’s syndrome is NOT on their GP’s Learning Disability

Register then reasonable adjustments to care for that person cannot be
anticipated and made.

Reviewed and updated 2018

Authors:

Dr Kath Gillespie, Diabetes and Metabolism Unit, University of Bristol.

Dr Christine Jenkins, BSc, MB BS, FRCPCH, FRCP, MRCGP, DCH, DRCOG. Consultant
Paediatrician, Community Child Health, East and North Herts NHS Trust and member of
Steering Group of DSMIG.

Dr Liz Marder, Consultant Community Paediatrician and Medical Advisor to the DSA;
member of the DSMIG UK and Ireland.

Julian Hamilton-Shield, Professor of Diabetes and Metabolic Endocrinology, Universityof

Bristol and Bristol Royal Hospital for Children.

Publication date 2013

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The Down's Syndrome Association provides

information and support on all aspects of living
with Down's syndrome.

We also work to champion the rights of people

with Down's syndrome, by campaigning for
change and challenging discrimination.
www.dsactive.org
A wide range of Down's Syndrome Association
publications can be downloaded free of charge
from our website.

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Down’s Syndrome Association

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