CureFactor for Down syndrome

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Down syndrome:
Down’s syndrome is chromosomal anomaly characterised by mental retardation,small stature and hypotonia(reduced muscle tone). Down’s syndrome is also called mongolism due to its resemblance to mongolians.
Down’s syndrome is chromosomal anomaly due to extra chromosome 21 characterised by small stature,hypotonia and mental retardation.

ETIOLOGY:

  • Exact cause is not known
  • It is believed that Down’s syndrome is common in women who concieves in older age.
  • Accordding to incidence 1 in 600 live births you come across a Down’s syndrome baby.

Clinical Features:

  • Mental retardation.
  • Small stature.
  • Hypotonia.
  • Hyperflexibility of joints.

Signs of Down’s syndrome baby:
Skull

  • Small and round skull(brachycephalic).
  • Delayed fontanelles.

Face

  • Small nose,flat face with absence of or flat nasal bridge.

Eyes

  • Upward slant to palpebral fissures.
  • Inner epicanthic folds.
  • Strabismus.
  • Tendency to blepharitis.

Ears

  • Small,deformed ears.

Mouth

  • Small mouth,protruded tongue,fissured tongue(scrotal tongue).
  • Neck is short.

Hands

  • Broad hands,with short digits.
  • Small incurved little finger(clinodactyly) due to rudimentary Second phalanx.
  • Single palmar crease(simian crease-single palmar crease).

Feet

  • Toes widely spaced
  • Plantar crease between first and second toes.

Skin

  • Dry,soft skin
  • Soft,silky,sparse hair.

Abdomen

  • Umbilical hernia.

Genitalia

  • Small genitalia.
  • Cryptorchidism (absence of one or both testes).
  • Infertility in males.

Above all symptoms and signs are associated with congenital heart disease(CHD),oesophageal atresia and duodenal atresia.
Prognosis

  • Life expectancy rate does not reduces if the child survives neonatal period and is has no cardiac abnormality.
  • Muscle tone tends to improve with age
  • IQ tends to fall with age.

General Management:

  • Support the parents if they are ready to accept the child emotionally.
  • Early training of the child with specific limited objectives that would be helpful to child and mother like feeding,dressing,toilet training.
  • Older child requires special school.
  • Associated symptoms to be treated on individual merits.