CHILD HEALTH NURSING

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.