Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It causes delays in physical and intellectual development. The majority of cases are caused by nondisjunction during meiosis resulting in three copies of chromosome 21 rather than the typical two. Clinical features include a flat face, almond shaped eyes, poor muscle tone, and intellectual disability. Treatment is symptomatic and involves supportive care, early intervention, physical/occupational therapy, and addressing any associated health issues. Nursing care focuses on monitoring development, providing support to develop self-care skills, managing infections risks, and supporting the family.

1. DOWN SYNDROME

2. INTRODUCTION
 Down syndrome was named after John Langdon
Down
 It is one of the commonest chromosomal
disorders and most common identifiable cause of
mental retardation
 It is a condition associated with variety of
congenital anomalies
 Incidence in India is 2.2 per 1000 live births

3. DEFINITION
Down syndrome, also called Trisomy
21, is a genetic condition that causes
delays in physical and intellectual
development.
There is extra genetic material from
chromosome 21, so individuals with
DS have 47 chromosomes in total
instead of the usual 46.

4. ETIOLOGY
 Down syndrome is usually caused by an error in cell
division called NONDISJUNCTION:
I. During meiosis, one pair doesn’t divide & the whole pair
goes to one daughter cell.
II. In the resulting cells, one will have 24 chromosomes &
the other will have 22.
III. So if a sperm or egg with an abnormal of chromosomes
merges with a normal mate, the resulting fertilized egg
will have an abnormal no. chromosomes.

5.  In Trisomy 21, one cell has two 21st chromosomes
instead of one, so the resulting fertilized egg has
three 21st chromosomes.

6. TYPES
1. Nondisjunction (94% of all cases):- there are 3 copies of
chromosome 21 instead of usual 2 copies. This is caused by
abnormal cell division during the development of the sperm
cell or the egg cell
2. Translocation (4%):- a segment of a 21 chromosome is
found attached to other pairs of chromosomes
3. Mosaicism (1%):- in these type some cell have 3 copies of
chromosome 21, but other cells have the typical 2 copies of
chromosome 21

7. RISK FACTOR
 Women who are 35 years or older are at the
greatest risk for giving birth to an infant with
Down Syndrome
 According to the CDC, younger mothers (< 35
years) who smoke, use oral contraceptives, and
have a Meiotic II error are at an increased risk as
well.
 Despite many years of research, advanced
maternal age has been the only one factor that is
well established with Down Syndrome

8. CLINICAL FEATURES
 Round flat face
 Almond shaped eyes
 Slanting eyes with fold of skin at the inner
corners ( called epicanthal folds)
 Protruding tongue, furrowed tongue (Scortal
tongue) high arched palate, malocclusion of
teeth
 Small oral cavity
 Rough and dry skin

9.  Poor muscle tone
 Hyperflexibility of joints
 Short, board hand with single crease across the
palm (Simian crease)
 Clinodactyly of little finger

10. CONT..
Broad feet with short toes and wide
gap between the big and second toes
Flat bridge of the nose
Short, low set ears
Short neck and small head

12. ASSOCIATED ABNORMALITIES
1. Congenital heart disease
2. Gastrointestinal malformation – duodenal
atresia, Hirschsprung disease
3. Ophthalmic problems – cataract,
nystagmus
4. Hearing defects
5. Retarded linear growth with slow
developmental progess
6. Maglinancies – leukemia

13. DIAGNOSTIC EVALUATION
 History and physical examination
 Chromosomal study and radiological study can
confirm the diagnosis
 Antenatal examination =
- Amniocentesis:- Removal of a small amount of
amniotic fluid through a needle inserted in the
abdomen. Cells are analyzed for the presence of
chromosomal abnormalities.
- Estimation of alpha fetoprotein
- USG

14. TREATMENT
 There is no specific management of Down syndrome.
 Symptomatic treatment for infection, nutritional
deficiencies and associated congenital malformations
are important measure
 Daily supportive care should be provided to prevent
acquired health hazards
 According to I.Q level, child can be trained in self care or
parents should provide daily routine care for health
maintenance

15. CONT..
 Early intervention and educational therapy :-
prompt diagnosis and educating the parents
about the long term implications of problem is
necessary
 Physical therapy:- include activities and exercise
that help to develop motor skills, increase
muscle strength and improve posture and
balance
 Speech language therapy :- it help child to
improve communication skills and use language
more effectively

16. CONT..
 Occupational therapy:- provide way to adjust
everyday tasks and conditions to match a
person’s needs abilities
 Emotional and behavioural therapies :- these
are used to identify useful responses to both
desirable undesirable behaviour
 Counselling :- parents are counselled with
empathy and truthfulness

17. NURSING MANAGEMENT
 Nurses should obtain a history of mother’s
pregnancy, birth history & genetic testing.
 Observe physical characteristics of DS
 Assess the following:
- Respiratory functioning due to poor muscle tone
- Heart sounds for presence of a murmur
- Infant’s ability to eat due to protruding tongue &
mouth breathing
- Bowel functioning

18. CONT,..
- In an older child, assess height & weight and compare
to appropriate growth chart
- Cognitive development
- Skin integrity due to tendency toward dry, rough,
cracking skin
- Determine family knowledge, coping, & support
- Observe interaction & bonding between mother & infant
- Parental feelings about having a child with Down
Syndrome

19. NURSING DIAGNOSIS
 Delayed growth and development r/t impaired ability to
achieve developmental tasks
- Provide environmental stimulation in a supervised setting.
- Provide resources to the child & family of therapeutic
programs, exercises, and activities designed to address
developmental delays in the early years in order to reach
their developmental potential later in childhood.
- Modify gross motor and sensory activities to
accommodate the toddler’s limitations and promote a
sense of autonomy.

20.  Self-care deficit: Bathing & hygiene, dressing, feeding,
toileting r/t cognitive impairment
- Consistent care by the same people in which the child
can be encouraged to have some control and perform
age-appropriate tasks within the limitations of the
disability helps to provide a sense of trust & routine.
- Encourage independence & allow the child to make as
many choices as possible to ensure the child a better
feeling of control & self-worth.
- Give the child positive reinforcement for demonstrating
appropriate skills & behaviours to promote similar
behaviour in the future.

21.  Impaired Verbal Communication r/t impaired receptive
or expressive skills
- Enlist the help of a speech/language therapist who can
help develop a program specific to the child’s needs.
- Talk slowly & use pictures and articles when
communicating with child because doing so gives the
child time to process what is being said & reinforces
what is being communicated.
- Use a positive approach with examples &
demonstrations since this method achieves better
results than using a constant stream of “don’t touch” or
“stop that”.

22.  Risk for Infections r/t decreased muscle tone & poor
drainage of mucous
- Teach family good hand washing to prevent the spread of
bacteria & communicable diseases.
- Rinse the child’s mouth with water after feeding & at other
times of the day when dry. Mucous membranes are dry
due to constant mouth breathing, which also increases
the risk for respiratory infection.
- Teach parents to perform postural drainage & percussion
if needed to keep the lungs clear.