Down’s Syndrome, Etiology, Diagnosis & Treatment

Down’s syndrome is a chromosomal disorder caused when an error in cell division results in an extra 21st chromosome. There can be impairments in cognitive ability and physical growth, mild to moderate developmental disabilities. Through a series of screenings and tests Down’s syndrome can be detected before or after birth.

Down's Syndrome
Down’s Syndrome


Down’s syndrome happens when there is an extra copy of gene goes on 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in cell nucleus. There are normally 46 chromosomes in each cell, 23 inherited from the mother and 23 from the father. When some or a person’s entire cells have an extra full or partial copy of chromosomes 21, the result is Down’s syndrome.


People with Down’s syndrome often have distinct physical features, unique health issues and variability in cognitive development. The physical characteristics includes: –

  • Almond eyes.
  • Low muscles tone.
  • Small stature and short neck.
  • Flat nasal bridge.
  • Single deep creases across the centre of the palm.
  • Protruding tongue.
  • Large space between first and second toe.
  • A single flexion furrow of the fifth finger.

Children with Down’s syndrome often reach developmental milestones later than their peers.

  • There may be a delay in acquiring speech.
  • A child may need speech therapy to help them gain expressive language.
  • Fine motor skills may also be delayed.
  • They can take time to develop gross motor skills.

Women with a higher chance of having a child with Down’s syndrome may receive screening and diagnostic tests.

Screening tests include: –

  • Nuchal translucency testing: – At 11 to 14 weeks an ultrasound can measure the clear space in folds of tissue behind the neck of a developing baby.
  • Triple screen or quadruple screen: – At 15 to 18 weeks this test measures the quantities of various substances in the mother’s blood.
  • Integrated screen: – This combines the result of first trimester blood test and screening tests with or without nuchal translucency with second trimester quadruple screening results.

Diagnostic tests: –

These tests are more accurate in detecting Down’s syndrome and other problems. They are usually performed inside the Uterus.

  • Chronic villus sampling: – At 8 to 12 weeks, a tiny sample of placenta is obtained for analysis using a needle inserted into cervix of the abdomen.
  • Aminocentesis: – At 15 to 20 weeks a small amount of amniotic fluid is obtained for analysis using a needle inserted into abdomen.

Treatment: –

Treatments are based on a child’s unique medical issues and developmental profile. Therapist uses a combination of approaches in order to address child’s unique social, behavioural, communication and academic needs. The goal is to develop a programme that will help your child reach his / her full potential.

  • Speech therapy can help improve your child’s communication skills and help him use language to express himself.
  • Occupational therapy can improve your child’s motor skills, fine motor skills, such as; using his / her hands and other parts of the body and deal with sensory inputs from the environment.
  • Behavioral therapy is an important resource that focuses on managing emotional and behavioral problems. This therapy can also teach families how to help a child with Down’s syndrome cope with anger or frustration.

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