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Disability Conditions we treat

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DOWN SYNDROME

WHAT IS DOWN SYNDROME?

Down syndrome is a neuro developmental genetic disorder. It occurs in about 1 in 830 newborns and is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. 

WHAT ARE THE SYMPTOMS?

Individuals with Down Syndrome have a constellation of symptoms in three main categories-

  • Physical symptoms-short stature, poor muscle tone, upward slanting eyes, wide short hands and with short fingers and more.
  • Intellectual and Developmental symptoms-short attention span, delayed language and speech development, slow learning and impulsive behaviour.
  • Health problems- increased risk for heart defects, vision problems, hearing loss, infections, hypothyroidism, blood disorders, poor muscle tone and more.

WHY IS DOWN SYNDROME CAUSED?

Down Syndrome is congenital andis caused by a random error in cell division that results in presence of an extra copy of chromosome 21. Three types of chromosomal changes can lead to Down Syndrome.

  • Complete trisomy 21-Either the egg or sperm have an extra chromosome and the resulting cells after the unity of egg and sperm also carry three copies of chromosome 21.
  • Mosaic trisomy 21- most of the cells have an extra chromosome 21 and some don’t.
  • Translocation trisomy 21-an extra copy of chromosome 21 attaches itself to another chromosome.

WHO IS AT THE RISK?

Risk of  a child having Down Syndrome is higher if:

  • Mother is older when pregnant. Many doctors believe that the risk increases for women age 35 and older.
  • Child has a brother or sister who has Down syndrome.
  • Mother has another baby with Down syndrome.

HOW IS IT DIAGNOSED?

Screening tests are used to estimate the risk that a fetus has Down syndrome. They include-

  • Ultrasound
  • Blood tests

Diagnostics tests can tell whether the fetus actually has the condition. They include-

  • Amniocentesis
  • Chorionic villus sampling
  • Percutaneous umbilical blood sampling.

HOW IS IT MANAGED?

Having Down Syndrome, or having a child with the condition can be challenging at times. But with help and support, most people are able to have healthy, active and more independent lives.

  • Regular health check-ups and Medical care
  • Intervention programmes like physiotherapy, occupational therapy and speech therapy.
  • Taking care of educational needs
  • Counselling parents to provide a supportive environment at home and on how to handle behavioural problems if and when they arise.
  • Medication if there is co-morbidity with other problems such as autism etc.

WHEN TO SEE A DOCTOR?

At present, screening for Down Syndrome is offered to all pregnant women. If you fear that your child may be facing a problem, please visit a health professional.

WHERE CAN THEY BE TAKEN CARE OF?

At HCRA, we have a trusted team of multiple health professionals that offer valuable support. We cater to the special needs of the individual with Down Syndrome by way of providing occupational therapies to help in activities of daily living, special education, behavioural interventions when required and counselling to the parents or other care givers.

 





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