Down syndrome is a genetic abnormality leading to physical and psychological limitations.

1. Sara Ismail
Topic : Down syndrome

2. INTRODUCTION
What is down syndrome?
It is a set of mental and physical symptoms that
result from having an extra copy of
chromosome 21
in other words…
A set of physical, mental and behavioral
characteristics that are due to a specific genetic
abnormality ( Leshin, 2003).

3. Historical background
• In 1866 John Langdon Down described a group of
children with common traits that differed from other
children with mental retardation.
• In the beginning, children with down syndrome were
referred as “mongoloids” because they looked like
people Mongolia, the term changed into Down’s
syndrome.

4. • Every cell in the human body contains genetic
material stored in genes that carry inherited traits
which are grouped in structures called chromosomes.
• The nucleus of each cell contains 23 pairs of
chromosomes, half of which are inherited from each
parent.

5. Symptoms of Down Syndrome
• Flattened face and nose
• Upward slant of the eyes
• Poor muscle tone and short neck
• Mental retardation
• Small mouth sometimes with larger tongue
• Abnormally-shaped ears and short fingers
• White spots in the iris

6. CONT.
• Increased risk of various medical states such
as:
• Heart problems
• Alzheimer's disease
• Thyroid conditions
• Leukemia

7. CONT.
• Cognitive delays and difficulties in:
Developing basic language skills & motor
skills & learning abilities (such as memory &
concentration problem).
• Difficulty in:
Solving problems & the comprehension of
consequences of their actions.

8. Diagnostic Features

9.  Short extremities i.e. Short broad
hands and height
 Eyes that slant upward/ Up-slanting
slanting palpebral fissures
General appearance & Facial Features

10.  Flat facial features
Flat nasal bridge
 Medial epicanthic folds
 Brushfield spots (speckled iris)
 Bulging tongue/Protruding tongue
(Open Mouth)

11.  Short fifth finger
 Incurved fifth finger

12.  Transverse palmer crease (single
simian crease)
 Space between first and second toe

13.  Poor muscle tone (Hypotonia)
 Hyper flexibility of joints

14.  Strabismus (abnormal alignment of the
eyes; the condition of having a squint)
 Brachycephaly (Microcephaly)

15. Oddly shaped ears/Over Folded or
dysplastic ears
 Hypertelorism

16.  Anodontia
 Almond-shaped eyes that slant up

17. System of the body Effects
CNS moderate to severe mental retardation
& seizure disorders
Psychiatric/ Psychological Usually very cheerful and gentle.
ADHD, ASD, OCD, depression,
early dementia.
CVS Congenital defects like endocardial
cushion defect and others
Other Hypothyroidism, leukaemia,
Impaired cellular immunity.

18. Etiology

19. What Causes Down Syndrome?
ETIOLOGY
• Down syndrome (or Down's syndrome) is
a chromosomal disorder caused by an
error in cell division that results in an
extra 21st chromosome.
• When the baby’s cells develop, each cell is
supposed to receive 23 pairs of
chromosomes. Half of the chromosomes
are from the mother and half from the
father.

20. • The condition leads to impairments in
both cognitive ability and physical
growth that range from mild to
moderate developmental disabilities.
• Some times its because of error in cell
divisions.
• Attached extra piece of chromosomes.

21. Clinical Appearance

22. Clinical Appearance of Down’s
Syndrome
• Each person with Down's syndrome is
affected differently, but most share a
number of physical characteristics and
developmental problems.

23. Physical Appearance
• People with Down's syndrome often have
certain physical characteristics. Not
everyone will have all of them, but they
may include:
• reduced muscle tone which results in
floppiness (hypotonia)
• a small nose and flat nasal bridge
• a small mouth with a protruding tongue
• eyes that slant upwards and outwards

24. • a flat back of the head
• a big space between the first and second
toe (sandal gap)
• broad hands with short fingers
• their palm may have only one crease
across it (single transverse palmar crease)
• a below average weight and length at
birth

25. • However, Down's syndrome do not all
look the same and will share physical
features with their parents and family.

27. Living with Down's syndrome
• Having Down's syndrome, or having a
child with the condition, can be
challenging at times. But with help and
support, most people are able to have
healthy, active and more independent
lives.

28. Emotional impact
• In some cases, it may not be apparent a
baby has Down's syndrome until after
they are born.
• Some families accept their baby's
diagnosis of Down's syndrome quickly,
while others need time to adjust.

29. • If you have recently found out your child has
Down's syndrome, you may feel a range of
emotions, such as fear, sadness or confusion.
• It is quite common for parents to feel
overwhelmed or have negative thoughts
after the birth of their new baby.
• There is no right or wrong way to react.
Finding out more about the condition will
give you a better understanding about how it
may affect your child's life, as well as your
own.

30. Relationships, Sex and Fertility
• Many people with Down's syndrome enter loving
relationships, although they may need guidance
and support when it comes to things such as
contraception.
• Men and women with Down's syndrome tend to
have a reduced fertility rate.
• This does not mean they cannot conceive children,
but it does make it more difficult.
• Those who decide to have children will usually
need specialist guidance and support to help them
cope with the physical and mental demands of a
newborn baby.

31. • If one partner in a couple has Down's
syndrome, there is around a one in two
chance of each of their children having
Down's syndrome too. The risk of
miscarriage and premature birth is also
greater in women with Down's syndrome.

32. Health condition

33. Children with Down syndrome are at an increased
risk for certain health problems
• Heart defect
• Vision problems
• Hearing loss
• Blood disorders
• Hypotonia (poor muscle tone).
• Infections
• Digestive problems
• Gum disease and dental problems
• Thyroid problems

34. • Heart defects. Almost one-half of
babies with Down syndrome have
congenital heart disease (CHD), the
most common type of birth defect.
CHD can lead to high blood
pressure in the lungs, an inability of
the heart to effectively and
efficiently pump blood

35. • Vision problems. More than 60% of
children with Down syndrome have
vision problems, including cataracts
(clouding of the eye lens) that may be
present at birth.
• The risk of cataract increases with age.
• Other eye problems that are more
likely in children with Down
syndrome are near-sightedness,
“crossed” eyes, and rapid, involuntary
eye movements

36. • Hearing loss. About 70% to 75% of
children with Down syndrome have
some hearing loss, sometimes
because of problems with ear
structures.
• Blood disorders. Children with
Down syndrome are 10 to 15 times
more likely than other children to
develop leukemia which is cancer of
the white blood cells

37. • Hypotonia (poor muscle tone). Poor
muscle tone and low strength
contribute to the delays in rolling
over, sitting up, crawling, and
walking that are common in
children with Down syndrome

38. Infections
Respiratory infections are more common
among people with Down syndrome,
especially during the first five years of
life. Infections of the skin and the
bladder also tend to be common.
Digestive problems
Digestive problems range from
structural defects in the digestive system
or its organs, to problems digesting
certain types of foods or food ingredients

39. • Gum disease and dental problems.
Children with Down syndrome may
develop teeth more slowly than
other children, develop teeth in a
different order, develop fewer teeth,
or have misaligned teeth compared
to children who do not have Down
syndrome

40. Thyroid problems
Around one in 10 people with Down's
syndrome have problems with their
thyroid gland. Most people with Down's
syndrome who have a problem with
their thyroid have hypothyroidism,
which means their thyroid gland is
underactive. Symptoms of an
underactive thyroid gland can include:
• lethargy (lack of energy)
• weight gain
• slow physical and mental reactions

41. • Adults with Down syndrome are
also at increased risk for
Alzheimer’s disease, thyroid
conditions and sleep apnea. The
majority of people born with Down
syndrome today have an average
life expectancy of 55 years, with
some living into their seventies.

42. Learning and Development
Down Syndrome

43. • Children with Down syndrome usually learn and
progress more slowly than most other children.
• However, not all areas of development are equally
affected.
• There is a specific pattern of cognitive and
behavioral features that are observed among
children with Down syndrome that differs from
that seen in typically developing children and
children with other causes of intellectual
disability.
• We refer to this pattern of characteristic strengths
and weaknesses as a ‘developmental profile’.

44. By understanding how development and
learning differs for children with Down
syndrome we can devise more effective
teaching approaches and therapies.

45. Social development
The social functioning of babies and children
with Down syndrome is relatively less
delayed than other areas of development.
Babies with Down syndrome look at faces
and smile only a week or two later than other
children and they are usually sociable
infants.
Infants with Down syndrome enjoy
communicating and make good use of non-
verbal skills including babbling and gesture
in social situations.

46. Learning with visual supports
Research suggests that people with Down
syndrome learn better when they can see
things illustrated.
This finding has been demonstrated across a
number of areas of development including
the acquisition of language, motor skills and
literacy.
This suggests that teaching will be more
effective when information is presented with
the support of pictures, gestures or objects.

47. Word reading
Many children with Down syndrome can
develop reading abilities in advance of what
might be expected for their cognitive and
language levels.
Reading makes an important contribution to
vocabulary and language development for all
children
This may be a particular benefit for children
with Down syndrome, given their specific
language delays.

48. Motor development
Motor skills develop at a slower rate for
children with Down syndrome than for those
without.
These delays in motor development reduce
infants’ opportunities for exploring and
learning about the world around them and
therefore further affect cognitive
development.
Poor oral motor control may impact the
development of language skills.

49. Expressive language, grammar and
speech clarity
 Children with Down syndrome show specific
delays in learning to use spoken language relative
to their non-verbal understanding.
 Almost every child will have expressive language
that is delayed relative to their language
comprehension.
 The children experience two types of expressive
difficulty - delay in mastering sentence structures
and grammar, and specific difficulties in developing
clear speech production.

50. The gap between the children’s
understanding and their ability to express
themselves is a cause of much frustration and
can sometimes lead to behavior problems. It
can also result in the children’s cognitive
abilities being underestimated.
Language delay also leads to cognitive delay
as much human learning is through language
and language is internalized for thinking,
remembering and self-organization.

51. Number skills
Most children with Down syndrome struggle
with basic number skills and their number
skills are typically some 2 years behind their
reading skills.
There is a need for more research into the
reasons for this.
Currently, the best available advice is to
draw on what is known about the children’s
learning strengths and to use maths teaching
systems that make full use of visual supports
to teach number concepts

52. Verbal short-term memory
 Short-term memory is the immediate memory
system which holds information ‘in mind’ for
short periods of time and supports all learning
and cognitive activity.
 It has separate components specialised for
processing visual or verbal information.
 The ability of children with Down syndrome to
hold and process verbal information is not as good
as their ability to hold and process visual
information.
 These verbal short-term memory problems make
it more difficult to learn new words and sentences.


53.  They also make it more difficult to process spoken
language and this can adversely affect learning in
the classroom.
 Studies suggest that the processing and recall of
spoken information is improved when it is
supported by relevant picture material.
 This information has led to educators stressing the
importance of using visual supports including
pictures, signs and print when teaching children
with Down syndrome as this approach makes full
use of their stronger visual memory skills.

54. Some Facts about Children
with Down Syndrome
• All individuals with Down syndrome have some degree of
mental retardation.
• They learn more slowly and have difficulty with complex
reasoning and judgment, but they do have the capacity to
learn.
• It is important to remember that it is impossible to predict the
degree of mental retardation in an infant with Down
syndrome at birth (just as it is impossible to predict the IQ of
any infant at birth).
• 40% of all children born with Down syndrome will have
a congenital heart defect. Some of these defects are mild and
require no treatment and others are more severe and may
require surgery and medical management

55. Continue
• Children with Down syndrome can and
do learn, and are capable of developing
skills throughout their lives. They simply
reach goals at a different pace.
• There is often a misconception that
individuals with Down syndrome have a
“static” or predetermined ability to learn.
(which is not true)
• It is now known that individuals with
Down syndrome develop over the course
of their lifetime and should be treated
accordingly.
• The learning potential of an individual
with Down syndrome can be maximized
through early intervention, good
education, higher expectations and

56. Psychological Characteristics
• At least half of all children and adults with Down syndrome face a
major mental health concern during their life span.
• Children and adults with multiple medical problems experience an
even higher rate of mental health problems.
• The most common mental health concerns include:
 general anxiety,
 repetitive and obsessive-compulsive behaviors;
 oppositional, impulsive, and inattentive behaviors;
 sleep related difficulties;
 depression;
 autism spectrum conditions; and
 neuropsychological problems characterized by progressive loss of
cognitive skills.

57. • Young and early school age children with limitations in
language and communication skills, cognition, and non-
verbal problem solving abilities present with increased
vulnerabilities in terms of:
 Disruptive, impulsive, inattentive,
hyperactive and oppositional behaviors
(raising concerns of coexisting
oppositional disorder and ADHD)
 Anxious, stuck, ruminative, inflexible
behaviors (raising concerns of co-existing
generalized anxiety and obsessive-
compulsive disorders)
 Deficits in social relatedness, self-
immersed, repetitive stereotypical
behaviors (raising concerns of co-existing
autism or pervasive developmental
disorder)
 Chronic sleep difficulties, daytime
sleepiness, fatigue, and mood related
problems (raising concerns of co-existing
sleep disorders and sleep apnea)

58. • Older school age children and adolescents, as well as young adults
with Down syndrome with better language and communication and
cognitive skills presenting with increased vulnerability to:
 Depression, social withdrawal,
diminished interests and coping
skills
 Generalized anxiety
 Obsessive compulsive behaviors
 Regression with decline in loss of
cognitive and social skills
 Chronic sleep difficulties, daytime
sleepiness, fatigue, and mood
related problems (raising concerns
of co-existing sleep disorders and
sleep apnea)

59. • Older adults present with increased
vulnerability to:
 Generalized anxiety
 Depression, social withdrawal, loss
of interest, and diminished self-care
 Regression with decline in cognitive
and social skills
 Dementia
• Note: All these changes in behavior
often seem to occur as a reaction to
(or triggered by) a psychosocial or
environmental stressor, e.g., illness
in, separation from, or loss, of a key
attachment figure.