Question

A newborn girl is brought into the genetics department for a karyotype study. She was born of a 50y/o mother who feels that her child is developmentally retarded with characteristics "mongoloiddge" facial features; her pregnancy was uneventful. On physical examination, the child presents with generalized hypotonia; flattened face and low set ears; macroglossia; flattened nasal bridge and epicanthal folds;; single transverse palmar crease with widely split fixed S2 (due to an atrial septal defect). Karyotype reveals 47, XX; trisomy 21 On gross pathology, the child has brachycephalic head; small brain with shallow sulci; hypoplasia of frontal sinuses; endocardial cushion defect. Imaging: double bubble (dilated stomach and proximal duodenum) due to duodenal atresia. X-ray is unsignificant (plain); hypoplastic middle and terminal phalanges of fifth digits (Acromicria).

3) Please provide a long term management for the patient.

Answer 1

There is no specific treatment for trisomy 21. Its based on the patient's cognitive and functional impairement. A child with trisomy 21 are at risk of developing other health problems which may require immediate care or long term management. Early detection of the case is very crucial in this type of disease.A team of professional including physicians, nurses, speech therapist, occupational therapist, social workers, physical therapist and nutrtionist is involved in the care of the children with trisomy 21.

In order to begin the treatment, the couple must confirm the presence of disease which is done by karyotyping. Once the disease has been found, evaluate the child for presence of feeding problem, strabismus, cataract or nystagmus at birth, congenital hearing loss, heart defects, duodenal atresia, congential hypothyroism, respiratory These multisystemic disorders may or may not be present in the child but its early detection is important. The longterm management includes:

• Auditory and opthalmic evaluation annually.
• Special diets for children who have duodenal atresia or hirschssprung's disease.
• Annual thyroid function test and dermatological test to detect skin problems.
• Repeated counselling to the parents is given as its a life long disease.
• Surgical repair of heart defect to be done.
• Speech therapy is started by month 9 inorder to develop child ability to speak and communicate.
• Physical therapy to evelop the motor skills of the child.