Down syndrome

INTRODUCTION
 First described by Dr. J. L. H. Down in
1866
 Initially the term mongolism was used to
describe the condition .
 “Jerome Lejeune”, discovered it was
caused by the inheritance of an
extra chromosome 21.
DEFINITION
Downs syndrome is a chromosomal
disorder resulting due to an extra
chromosome 21. Thus the child has
47 chromosomes instead of 46
INCIDENCE :
1 : 800 live births
 It increases with advancing maternal age.
 1 in 1000 for mothers with 30-32 years.
 1 in 100 for mothers between 40-45 years.

 1 in 50 for mothers over 45 years of age.

 Father above 55 years can also contribute to this

abnormality.
 Itaffects both the sexes and all racial and
socioeconomic groups.
ETIOLOGY :
Genetic
Advanced maternal age
Previously affected off springs
Exposure to radiations or chemical
Consanguineous marriage
TYPES
TRISOMY OF CHROMOSOME
21
 90-95% of incidence
 This abnormality is believed to be related
to the age of the mother and low risk of
reoccurrence.
 Trisomy 21 (nondisjunction) is caused by
a faulty cell division that results in the
baby having three 21 chromosomes
instead of two.
TRANSLOCATION TYPE OF
DOWN SYNDROME:
 3-4% of children affected
 Hereditary but not related to parental age
 Occurs when an extra number 21
chromosome becomes attached to number
14 or number 15 or any another number
chromosome.
MOSAIC TYPE DOWN
SYNDROME:
 Occurs in 2- 3% of the affected children
 Only some cells have an extra copy of
chromosome 21.
 There is a mixture of two types of cells, some
containing 46 chromosomes and some with 47.
 They have very fewer physical problems and a
higher level of intellectual ability than children
with other type of down syndrome.
CLINICAL FEATURES:
 Skin
Dry
Cracked
mottling
excessive skin on the back of the neck
 Hair
Soft
fine
possibly sparse
Head
Brachycephalia
Flat occiput
Late closure of the fontanel’s
Face
Flat facial profile
EYES:
Bilateral epicanthal folds
Upward and outward slant to palpebral fissures
Short scanty eye lashes
Brush field spots (white to tan nodules on the
irides of both blue and brown eyed children)
Strabismus
Nystagmus
Sever myopia
Cataracts
 Ears :
Low placement
Small
Short in length
Anomalies of the cartilage (overfolding of the
angulated upper helix)
Hearing defect
 Nose:
Small
Flat or depressed bridge
 Mouth :
Oral cavity small and narrow
High palate
Hypoplastic mandibles
Protrusion of tongue- fissured
Delayed eruption of teeth
Small irregular teeth
 Neck:
Short and webbed
 Chest
:
Short or funnel chest
 Abdomen :
Protruding (caused by flabby musculature)
Diastasis recti (separation of the rectus
muscle)
Umbilical hernia
 Genitalia :
Infantile genital development
Cryptorchidism
 Musculoskeletal:
Muscle hypotonia
Hyperflexibility of joints
 Hands:
 Short and broad hands-stubby fingers
 Clinodactylism-permenant incurving of little finger
 Transverse creases of palm
 High frequency of digital ulnar loop pattern
 Feet:
 Short and broad feet
 Wide gap between first and second toes
 Plantar creases
 Syndactility
 Reflexes;
 Moro reflex absent
DIAGNOSTIC EVALUATION ;
Parental diagnosis
1. Screening test ;
Ultrasound (11-20 weeks)
Triple test
Low alpha feto protein

Low Unconjugated estridol

High HCG
2. CONFIRMATORY TEST ;
 Aminosynthesis ( 11-14 weeks)
 Cordosynthesis
 Percutaneous Umbilical Blood Sampling
(PUBS) (18-20 weeks)
 Chorionic villi sampling
 Fetal umbilical blood sampling
 Fetal cell in maternal circulation
ASSOCIATED DEFECTS :
 Congenital heart defects- ASD , VSD,
PDA
 Renal anomlies- hydronephrosis,
polycystic kidney , hydroureter
 Genito urinary
 Males- undescended testis, epi &
hypospedias
 Female- bicornuate uterus, duplication of
system
MANAGEMEN
T:
ASSESSMENT:
 Assess the family’s understanding of the
diagnosis
 Developmental age of the child
 Assess the functional level of the child
 Assess parents perception of the child’s
development level & parents expectations
 Assess parent child interaction
 Assess need for additional resources
PARENTARAL ADJUSTMENT;
 Both parents should be informed togrther about
the defect as soon as the diagnosis is made
 Should explain to the parents the possible reason
for the condition and precautions to be taken
during future pregnancies.
 The parents should be taught how to care for the
child at home
 Positive and negative aspects of home care
should be explained to the child
PHYSICAL CARE
 Nutrition :
The nutritional requirement is based on
the length and weight and not on the age
Small and frequent feeds are
recommended.
These childrens have pooling of mucus
in nose so the nose should be cleaned
before each feed in order to provide
easy breath.
.
The parents should be informed about
the tongue thrust in which the child
push the food out of there mouth ,this is
not due to the dislike of food but
because of the inactive and flabby
musculature of the child
Increased amount of fluid and bulk
should be given to prevent constipation
 Skin care:
Dry skin should be prevented using
moisturizing lotions
Soap should not be used routinely because
of the chance of dry skin.
 Handling :
The child should be wrapped in a blanket
before removal from crib because to avoid
the difficulty of handling due to hypo
tonicity of muscle and hypermobility of
joints.
PREVENTION OF INFECTION :
 Secretions from the nose should be cleaned
frequently
 Change the infant position frequently.

 Mist vaporizer should be used to keep the mouth and

respiratory tract moist.
 Percussion and postural drainage should be done to
bring out the pulmonary secretions.
 The child should receive all the vaccines at correct
times.
 Dental care should be given daily
 Behavioral training :
Encourage independence
Specialeducation
Occupational training
Symptomatic treatment
Counselling
Surgery for any anomalies
DIAGNOSIS:
 Impaired adjustment r/t birth & diagnosis of
developmentally disabled child
 Impaired parenting r/t multiple needs of child & difficult
bonding
 Delayed growth & development r/t disability

 Social isolation r/t developmental differences from other

children
 Risk for injury r/t developmental age
PREVENTION :
Geneticcounseling
Promote pregnancy before age of 32