People with
DOWN’S SYNDROME
YOUR QUESTIONS ANSWERED
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Langdon Down Centre, 2a Langdon Park, Teddington, Middlesex, TW11 9PS
Tel:
0333
Tel: 0845
230121
0372 2300
Fax: 0845 230 0373
www.downs-syndrome.org.uk
What is
Down’s syndrome?
chromosomal material results in the
physical characteristics associated
with the condition and the different
course in development.
Down’s syndrome is a genetic condition caused by the presence of an extra chromosome
in the body’s cells. Down’s syndrome is not a disease, and it is not a hereditary condition.
It occurs by chance at conception.
Everyone with Down’s syndrome will
have some degree of learning disability.
Certain physical characteristics are
common among people with Down’s
syndrome, and they can be more
prone to certain medical problems.
However, the most important thing to
remember is that everyone with Down’s
syndrome is an individual, with their
own strengths and weaknesses and
personality traits that make them
who they are.
Why is Down’s syndrome referred
to as a ‘genetic condition’?
The human body is made up of cells.
Each cell is like a tiny factory, which
makes the materials, needed for growth
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and maintenance of the body. All cells
contain a nucleus in which genes are
stored. Genes are grouped along
rod-like structures called chromosomes.
pregnancy can cause Down’s syndrome.
It occurs in all races, social classes
and in all countries throughout the
world. It can happen to anyone.
Usually, the nucleus of each cell
contains 23 pairs of chromosomes –
23 we inherit from our mother and 23
we inherit from our father. In people
with Down’s syndrome the cells contain
47 chromosomes, with an extra copy of
chromosome 21. This additional genetic
material results in Down’s syndrome.
What is the incidence of Down’s
syndrome?
What causes Down’s syndrome?
As yet we do not know what causes the
presence of an extra chromosome 21.
It can come from either the mother or the
father. There is no way of predicting
whether a person is more or less
likely to make an egg or sperm with
24 chromosomes.
There is a definite link with advanced
maternal age for reasons yet unknown.
However most babies with Down’s
syndrome are born to women under
the age of 35, as younger women
have higher fertility rates.
What we do know is that no one is to
blame. Nothing done before or during
There are 1-2 babies born with Down's syndrome every day in the UK.
For every 1,000 babies born, one will
have Down’s syndrome.
About 600 babies with Down’s syndrome
are born in the UK each year.
There are three types of
Down’s syndrome:
Trisomy 21 – in which all the cells
have an extra chromosome 21.
About 94% of people with Down’s
syndrome will have this type.
Down’s syndrome affects people of all
ages, races, religious and economic
situations.
It is estimated that there are around
60,000 people with Down’s syndrome
living in the UK.
When was Down’s syndrome
discovered?
It is believed that people with Down’s
syndrome have always existed.
However, it was not until 1866 that the
English doctor, John Langdon Down,
published a description of the condition,
which subsequently took his name.
In 1959 Professor Jerome Lejeune
proved that Down’s syndrome is a
chromosomal irregularity. Instead of 46
chromosomes usually present in each
cell, Lejeune noted 47 in the cells of
people with Down’s syndrome. It was
later determined that this additional
in floppiness (hypotonia)
• A flat facial profile, flat nasal bridge,
small nose
• Eyes that slant upwards and outwards.
Often with a fold of skin that runs
vertically between the lids at the inner
corner of the eye (epicanthic fold)
• A small mouth which makes the
tongue seem slightly large
Translocation – in which extra
chromosome 21 material is attached
to another chromosome. Around 4%
of people with Down’s syndrome
have this type.
• A big space between the first and
second toe (sandal gap)
Mosaic – in which only some of the
cells have an extra chromosome
21. About 2% of people with Down’s
syndrome have this type.
• The palm may have only one crease
across it (palmar crease)
• Broad hands with short fingers and
a little finger that curves inwards
• A below average weight and length
at birth.
How is Down’s syndrome
diagnosed?
The diagnosis of Down’s syndrome
is usually picked up soon after the
birth of the baby because of the way
it looks. There are many physical
characteristics associated with the
condition, which may lead a parent,
or medical professional to suspect
that the baby has Down’s syndrome.
Some of the features include:
• Reduced muscle tone which results
There are around 60,000 people in the UK with Down's syndrome.
Many of these features are found in
the general population. Therefore a
chromosome test would need to be
done on the baby before a positive
diagnosis could be made. The doctor
takes a blood sample from the baby
and then analyses the chromosomes.
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Health
and development
However, with advances and increased
access to medical care most of these
problems are treatable. The Down’s
Syndrome Association together with
the Down’s Syndrome Medical Interest
Group have produced health care
guidelines to assist families and health
professionals to set up screening
programmes so that health problems
can be picked up early on and treated
before they become more serious.
Do people with Down’s syndrome
have medical problems?
which may slow their development.
However all will continue to develop
at their own pace.
How does Down’s syndrome
affect development?
Down’s syndrome –
Child development
All people with Down’s syndrome will
have some degree of learning disability.
Children with Down’s syndrome do learn
to walk, talk and be toilet trained but in
general will meet these developmental
milestones later than their ordinary peers.
This table gives an outline of the
usual development of children with
Down’s syndrome. Just as with all
children there is a great deal of
individual variation in the age at which
the different skills develop. In the
table we show the usual range for
some milestones. A few children
will have additional health problems
go to school and college, find and
keep a job, and make decisions about
their lives and futures.
None of these problems are unique to
people with Down’s syndrome, they also
appear in the rest of the population.
Age range
Certain medical problems are more
common in people with Down’s
syndrome.
These include:
• 40-50% of babies with Down’s
syndrome are born with heart
problems, half of which require
heart surgery
• A significant number of people with
Down’s syndrome will have hearing
and sight problems
• Thyroid disorder
• Poor immune system
• Respiratory problems, coughs
and colds
• Obstructed gastrointestinal tract.
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Area of development
It is also important to remember that
some people with Down’s syndrome
do not experience any health problems.
Advances and increased access to
medical care have also meant that
people with Down’s syndrome are living
much longer. Life expectancy is now
put at 60-65, and many people with
Down’s syndrome live even longer.
Early intervention programmes which
are now widespread for children with
learning disabilities help in all areas of
child development. These programmes
can include speech and physical
therapy as well as home teaching
programmes for the child and family.
Children and adults with Down’s
syndrome can and do continue to
learn throughout their lives just like
the rest of the population.
Down's syndrome is only part of the person – people with Down's syndrome are all unique individuals.
Down’s syndrome
Other children
1-4m
Holds head steady in sitting position
3-9m
Gross motor skills
Sits alone
6-16m
5-9m
(moving around)
Stands alone
12-38m
9-16m
Walks alone
13-48m
9-17m
Follows object with eyes
1.5-8m
1-3m
Reaches out and grasps object
4-11m
2-6m
Passes objects from hand to hand
6-12m
4-8m
Builds a tower of two 1” cubes
14-32m
10-19m
Copies a circle
36-60m
24-40m
Babbles “Dada”, “Mama”
7-18m
5-14m
Responds to familiar words
10-18m
5-14m
First words spoken with meaning
13-36m
10-23m
Fine motor skills and
eye hand coordination
Communication skills
Personal and
social skills
With good medical care and the right
levels of support, people with Down’s
syndrome can and do make friends,
Milestone
Shows need by gesture
14-30m
11-19m
Two word phrases
18-60m
15-32m
Smiles when talked to
1.5-4m
1-2m
Feeds self with biscuit
6-14m
4-10m
Drinks from cup
12-23m
9-17m
Dry by day
18-50m
14-36m
Bowel control
20-60m
16-48m
For you to record the age at which
your child acquires these skills
Table adapted with permission from Cunningham 1988 Down’s Syndrome – An Introduction for Parents. Souvenir Press Ltd. Human Horizon Series.
A person with Down's syndrome has 47 chromosomes instead of the usual 46.
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Past, present
and future
the final two decades of the last century,
legislation was introduced to ensure
that people with learning disabilities
had the right to receive services and
support within their own communities.
This included the right to attend their
local mainstream school.
how the key principles of rights,
independence, choice and inclusion
should be reflected in every aspect
of the lives of people with learning
disabilities.
What does the future hold?
It is hoped that services will continue
to improve for people with Down’s
syndrome and that our society will
become fully inclusive, embracing
diversity rather than condemning many
people with Down’s syndrome and
their families to a life of social exclusion.
What is life like now for people
with Down’s syndrome?
What was life like in the past for
people with Down’s syndrome?
In the early part of the twentieth
century, legislation was introduced
which led to the incarceration of
thousands of people with learning
disabilities in institutions known as
‘long stay hospitals’. Parents were
made to feel ashamed of their children
with learning disabilities and were
routinely told “Put him away and
forget him”. Many of the public
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attitudes that still exist today stem
from the policies of segregation,
which were continued by successive
governments.
The 1944 Education Act advocated
a selection process to decide which
children were deemed “educable”.
Children with Down’s syndrome were
deemed “ineducable” and therefore
denied an education. This classification
determined that their lives would be
spent in institutions or at home with
Down's syndrome is not a 'disease' or an 'illness' – it is a genetic condition.
their families who were given no
support. It was not until the1971
Education Act that it was officially
recognised that no child is “ineducable”,
that children with learning disabilities
had a legal right to go to school.
It was also in 1971 that the White
Paper “Better Services for the
Mentally Handicapped” appeared,
which advocated the closure of the
long stay hospitals and the provision
of services within the community. In
In the past it was believed that there
were many things that people with
Down’s syndrome could not do when
in fact they had never been given
the opportunity to try. Today these
opportunities have never been greater
with many people with Down’s syndrome
leading rich and varied lives.
However there is a long way to go
and much work to be done before
all people with Down’s syndrome,
both children and adults, are given
the opportunity to partake fully in
all aspects of community life.
The Government document “Valuing
People: A New Strategy for Learning
Disability in the 21st Century” outlines
The International Human Genome
Project has been successful in
sequencing chromosome 21. As
research continues on this small set
of genes, it is hoped that the future
will bring a greater understanding of
the development of people with
Down’s syndrome and why there is a
higher incidence of certain medical
problems in people with the condition.
What is the correct terminology
regarding people with Down’s
syndrome?
be acknowledged as a person first
and foremost. It is important to think
of the person first, e.g. John is 29
and has Down’s syndrome.
What does the Down’s
Syndrome Association do for
people with Down’s syndrome
and their families?
Since 1970, the Down’s Syndrome
Association, has worked hard to
improve knowledge and understanding
about people with Down’s syndrome
amongst the general public. We
believe that this is the key to society
recognising the value and contribution
children and adults with Down’s
syndrome make to our communities.
We provide information, counselling,
support and advocacy for people
with Down’s syndrome, their families/
carers and the professionals who
work with them.
We champion the rights of people with
Down’s syndrome to help ensure they
have the support and opportunities they
need to live lives of their own choosing.
Down’s syndrome is not a disease
and therefore people with Down’s
syndrome do not “suffer”, nor are they
“victims” of their condition. Down’s
syndrome is only a part of the person,
they should not be referred to as “a
Down’s”. People with Down’s syndrome
are all unique individuals and should
Many children with Down's syndrome attend mainstream school.
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Fact
or fiction?
Fact or fiction?
Fact or fiction?
Children with Down’s syndrome are only born to
older parents.
All people with Down’s syndrome will eventually develop
Alzheimer’s disease.
Fiction.
Fiction.
80% of children with Down’s syndrome are born to
women younger than 35. However, the likelihood of
having a child with Down’s syndrome does increase
with the age of the mother.
Although many people with Down’s syndrome do develop
dementia in their later years, this is by no means inevitable.
Research indicates that the incidence of dementia in
people with Down’s syndrome is similar to that of the
general population only that it occurs 20-30 years earlier.
Fact or Fiction?
Fact or Fiction?
People with Down’s syndrome cannot form relationships.
Men and women with Down’s syndrome can have children.
Fiction.
Fact.
People with Down’s syndrome are perfectly capable
of forming all types of relationships with people they
encounter in their lives, be it friendship, love or a
dislike of someone.
Women with Down’s syndrome can and have had children.
It has been recorded that two men with Down’s syndrome
have been fathers. The information about fertility in
people with Down’s syndrome is very outdated and
based on research in institutions where men and
women with learning disabilities were kept apart.
Fact or fiction?
Fact or Fiction?
People with Down’s syndrome are always happy.
People with Down's syndrome can go to
mainstream school.
Fiction.
People with Down’s syndrome have the same feelings
and moods as everyone else.
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There is no way of predicting whether a person is more or less likely to make an egg or sperm with 24 chromosomes
instead of the usual 23.
Fact.
Most children with Down's syndrome now attend
mainstream school and many go on to secondary
and further education.
Although some health problems are more common in children with Down's syndrome, none of these problems
are unique to people with Down's syndrome; they also appear in the rest of the population.
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Who
can help...?
Further
information
Scottish Down’s Syndrome Association
158/160 Balgreen Road
Edinburgh EH11 3AU
Tel: 0131 313 4225
Fax: 0131 313 4285
www.sdsa.org.uk
….my baby with Down’s
syndrome
….a child with Down’s
syndrome
….an adult with Down’s
syndrome
• Midwife
• General Practitioner (GP)
• Further Education Colleges
• Paediatrician
• Speech Therapist, Occupational
Therapist, Physiotherapist
• Specialist Employment Services
• Social Worker
• General Practitioner
• Child Development Centre
• Portage Worker, Schoolteacher,
School Nurse,
• Adult Community Learning
Disability Team
• Community Team for People with
Learning Disabilities
• Educational Psychologist
• Down’s Syndrome Association
• Health Visitor
• Social Worker
• Benefits Agency
• Community Team for People with
Learning Disabilities
• Down’s Syndrome Association
• Down’s Syndrome Association
• Social Worker
British Institute of Learning Disabilities
Campion House
Green Street
Kidderminster
Worcestershire DY10 1JL
Tel: 01562 850251
Fax: 01562 851970
www.bild.org.uk
Foundation for People with Learning Disabilities
20/21 Cornwall Terrace
London NW1 4QL
Tel: 020 7535 7400
Fax: 020 7535 7474
www.learningdisabilites.org.uk
Mencap
12 Golden Lane
London EC1Y ORT
Tel: 020 7454 0454
www.mencap.org.uk
VIA – Values into Action
Oxford House
Derbyshire Street
London E2 6HG
Tel: 020 7729 5436
Fax: 020 7729 7797
www.viauk.org
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Down's syndrome is the most common learning disability.
People with Down's syndrome can pass exams, get jobs, get married – just like everyone else.
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