PRACTITIONER REFLECTION
Tomas A. is a nine-year-old boy who is short in stature with stocky arms and legs and a short, wide neck. In between his big and second toe is a wide space. Inspecting the palms of his hands, one can find a lone crease crossing the center of the palms.
His mouth and tongue is irregularly-shaped with the tongue slightly sticking out. He has ears that are set low and small. His nasal bridge seems flattened. Upon inspecting the eye, a buildup of tissue can be seen on the iris but this does not affect his sense of sight. His crooked teeth are irregular and the sequence of his teeth is not normal. Based on the report of his parents, his teeth started growing when he was three or four years old which were quite late for a normal child.
Based on the physical symptoms exhibited, my diagnosis is Down’s syndrome.
A complete medical history of the child was needed along with data on levels of activity, behavioral problems, diet or other health problems of Tomas. A conference with the parents was also carried out with the objective of evaluating the child and the lifestyle and home environment of the family. The mother is entrusted to list down all food taken, the likes and dislikes in food, to be able to know the eating habits of Tomas. Likewise, she was also asked to provide a week long food journal that was consumed by the family to provide an insight into the family eating habits that may cause health risks to Tomas as hypertension, cholesterol problems, heart illnesses, and diabetes.
Body mass index of Tomas was taken along with height, weight, and blood pressure. His blood pressure is consistently normal but his body weight statistics showed consistent weight gain. Tomas might have to undergo extensive physical examination to gauge if he can do physical activities that will promote his ideal body weight. Undergoing radiographic evaluation to look for atlantoaxial instability might be needed to see if a laxity is evident in between his cervical vertebrae. This can cause injury, compression of the spinal cord, paralysis, or death if not diagnosed before requiring the child to perform physical activities. Until such time that his body returns back to its normal or ideal weight, regular checkups are also needed to check for diabetes.
Tomas is due for thyroid gland check up next week. Screening tests will be performed on him to draw and check levels of TSH, T3 and T4. It is recommended that he undergo a yearly check up to examine the consistency and the size of the thyroid gland. Hypothyroidism is common among patients with Down syndrome. Furthermore, his weight gain might or might not be attributable to thyroid problems so it is better to ensure that the thyroid gland is functioning normally. If not, a referral to an endocrinologist is called for.
His height was measured using the growth chart of the National Center for Health Statistics designed for Down syndrome children. His height measurement is higher that his peers with the same illness but far shorter than his peers without the syndrome.
Based on Tomas’ medical records, he has already been screened for congenital heart problems. However, most patients are vulnerable to cardiac problems. This is the main reason why Tomas has to undergo a regular monitoring of his blood pressure and cholesterol build up, as well as body weight. If abnormalities are seen, Tomas needs to see a cardiologist immediately. Electrocardiogram and echocardiogram might be used to evaluate his cardiac condition. Until he is not given the clearance, Tomas cannot be involved in any energetic physical activity.
As of today, joints of Tomas are normal, no signs of dislocations nor does he exhibit loss of movement in any part of his body. He also has no foot deformity. Special shoes or esthetics are not required.
It is very important and helpful that Tomas was given early intervention during his early years. He has a greater chance to cope better in areas of his life that he needs to master.
Credit:ivythesis.typepad.com
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