Down Syndrome

Subject: Child Health Nursing

Overview

Trisomy 21, sometimes referred to as Down syndrome (DS or DNS), is a genetic disease brought on by the presence of all or a portion of the third copy of chromosome 21. Physical growth delays, distinctive facial traits, and mild to severe intellectual handicap are frequently connected with it. A young adult with Down syndrome has an average IQ of 50, which is comparable to an 8- or 9-year-old child's mental development. Although the precise origin of down syndrome is still unknown, illness and a mother older than 35 seem to be risk factors. Management of recurring respiratory infections, otitis media, and other conditions, as well as routine monitoring of thyroid hormone, growth pattern, and injection of growth hormone as appropriate, are all included in therapeutic management.

Down syndrome

Trisomy 21, sometimes referred to as Down syndrome (DS or DNS), is a genetic disease brought on by the presence of all or a portion of the third copy of chromosome 21. Physical growth delays, distinctive facial traits, and mild to severe intellectual handicap are frequently connected with it. A young adult with Down syndrome has an average IQ of 50, which is similar to the mental maturity of an 8- or 9-year-old child, but individual differences can be significant.

Causes

  • Unknown
  • Infection
  • Mother over age 35

Sign and symptoms

  • Mongolian face
  • Separated sagittal suture
  • Brachycephaly with flat occiput
  • Inner epicanthus fold, upward slanting eye
  • Mouth with protruding tongue, high arched palate
  • Excess and laxity of skin, dry skin
  • Muscular hypotonia
  • Broad, shorthand with short finger
  • Transverse palmar crease
  • Small penis

Diagnosis

  • Analysis of clinical features
  • Chromosomal analysis
  • Investigation for an associated condition like a congenital heart defect.

Therapeutic management

  • Surgical correction of congenital anomalies.
  • Evaluation of hearing, sight, and management accordingly.
  • Management of recurrent respiratory infection, otitis media, and other condition.
  • Regular monitoring of thyroid hormone, growth pattern, administration of growth hormone if necessary.
  • Long-term management of the child in special education or occupational therapy is helpful.

Nursing management

  • When a problem is diagnosed, help a family and promptly counsel the parents about it.
  • Aiding the family with the child's care
  • Prevention of a child's bodily ailments, such as otitis media and respiratory infections
  • Pushing food to the rear and side of the lips while feeding a baby or toddler (protruding tongue)
  • To consume foods and beverages high in fiber to prevent constipation
  • Supplying skin care
  • If there is a down syndrome support group, let people know about it.

 

 
Things to remember
  • Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all, or part of the third copy of chromosome 21.
  • It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.
  • The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this can vary widely.
  • Its exact cause is still unknown, however, infection and mother over age 35 are seems to be the risk factor for down syndrome.
  • Transverse palmar crease, mouth with protruding tongue, high arched palate, broad, shorthand with short finger, excess and laxity of skin, dry skin are the some of the sign and symptoms of down syndrome.
  • Therapeutic management includes evaluation of hearing, sight, and management accordingly, management of recurrent respiratory infection, otitis media and other condition and regular monitoring of thyroid hormone, growth pattern, administration of growth hormone if necessary.
  • Counsel the parents about the condition timely and support a family at the time of diagnosis.
Questions and Answers

Trisomy 21, sometimes referred to as Down syndrome (DS or DNS), is a genetic disease brought on by the presence of all or a portion of the third copy of chromosome 21. Physical growth delays, distinctive facial traits, and mild to severe intellectual handicap are frequently connected with it. A young adult with Down syndrome has an average IQ of 50, which is equivalent to the mental maturity of an 8- or 9-year-old child, but individual differences can be significant.

  • Mongolian Face,
  • Separated Sagittal Suture,
  • Brachycephaly with flat occiput,
  • Inner epicanthus fold, upward slanting eye,
  • Mouth with protruding tongue, high arched palate,
  • Excess and laxity of skin, dry skin,
  • Muscular hypotonia,
  • Broad, shorthand with short finger,
  • Transverse palmar crease,
  • Small penis.

Therapeutic Management

  • Surgery to treat congenital abnormalities.
  • Evaluation of hearing and vision and appropriate treatment.
  • Treatment of other conditions, such as recurrent otitis media, and respiratory infections.
  • Thyroid hormone levels are routinely monitored, along with growth patterns, and, if necessary, growth hormone is administered.
  • The child should be managed over the long term in occupational therapy or special education.

Nursing Management

  • When a problem is diagnosed, help a family and promptly counsel the parents about it.
  • Aiding the family with the child's care.
  • Prevention of a child's bodily ailments, such as otitis media and respiratory infections.
  • Pushing food to the back and side of the mouth while feeding a baby or child.
  • To consume foods and beverages high in fiber to prevent constipation.
  • Supplying skin care.
  • If there is a down syndrome support group, let people know about it.

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