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Thursday, February 10, 2011


Down's syndrome is one of the common causes of mental subnormality in children; occurring in 1.3 out of every thousand live births. This was described by Dr. John Langdon Down in 1866.

Aetiology: (Trisomy 21)there are 47 chromosomes with an extra chromosome for no: 21 resulting from non-dysfunction.

Clinical features:
  • Skull is small and round.
  • Face is flat, nose is small and neck is short.
  • Delayed closure of fontanelles may be present.
  • The eyes are set in slanting position.
  • Epicanthic folds, the small folds of skin between the inner corner of the eye and the bridge of the nose, are prominent
  • Small white spots on the iris are present (Brushfield's spots).
  • There may be squint or cataract.
  • Tongue is usually protruded and this has very prominent fissures (secretional tongue).
  • Ears are small
  • Broad hands and spatulate fingers are present.
  • The 5th finger is short and slightly inward curved. There is only one transverse palmar crease.
  • The gap between the great and second toe is increased.
  • There may be a single deep plantar crease.
  • The child is pleasant, but there is lack of intelligence
  • Speech and social development are markedly delayed.
  • Congenital malformations in the heart (atrial or ventricular septal defect) and alimentary tract (duodenal stenosis) may be present.
  • Muscles are hypotonic, and automatic postural reactions are slow and therefore motor milestones tend to be delayed.
  • Ligamentous laxity and hypermobile joints are also seen.
  • Deformities like scoliosis, pes planus and subluxation of joints, may present.
Management- Positioning
Child prefers supine lying and sitting to avoid energy expenditure. Some milestones like crawling may be substituted during development. Balance reactions should be trained.

Sensory and Proprioceptive re-education
  • Strengthening towards achievement of motor milestones, and later individual muscular activities.
  • ADL training IQ assessment and special education, behavior modification.
Genetic counselling
Genetic counselling is the communication of information about disorders with a genetic component.
Features of genetic counselling:
  • Take history
  • Construct pedigree
  • Establish diagnosis
  • Counselling to parents
  • Risk estimation
  • Follow-up
Initial response may be one of shock and denial. Feelings of guilt are common in parents who produced an affected child. Anxiety and even depression follow, and make absorbing information difficult.

Newer technologies today involve diagnosis of congenital deformities in utero. and intrauterine surgery of the foetus is gaining success today. Some severe malformations provoke the decision to terminate pregnancy.

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