Bt Sameer Ather MD, PhD
Down syndrome is the most common genetic condition in the U.S., with an incidence of 1 in 691 babies. The primary abnormality in individuals with Down syndrome is presence of additional genetic material on the chromosome 21, (hence also referred to as trisomy 21). Though, exact cause of Down syndrome is not known, but it is believed to be associated with advanced age of mother and exposure to certain toxins during pregnancy.
Most children with Down syndrome develop irreversible mental retardation and learning defects. Fortunately, with excellent care and medical assistance, average life expectancy is generally good.
Down syndrome and Thyroid Gland
There is a strong association between Down syndrome and thyroid disorders. For example, congenital hypothyroidism is diagnosed 28-times more frequently in individuals with Down syndrome. Normal thyroxine levels are needed for growth and crucial development of brain in the first few months after birth. If normal thyroid levels are not maintained during first 6 months after birth, the risk of irreversible brain damage/ mental retardation is inevitable.
If a child with Down syndrome has normal thyroid function at birth, it becomes extremely important to perform repeated tests for the evaluation of thyroid function at regular intervals because the thyroid hormone levels may be normal at birth in some Down syndrome babies. However, the normal levels are mainly due to the transfer of thyroid hormone from the mother to the baby during pregnancy. In other words, once the maternal hormones are removed, the baby will begin to develop the signs of hypothyroidism.
Other than congenital hypothyroidism, acquired hypothyroidism during early childhood years is twice as high in children with Down syndrome. The most common form of acquired hypothyroidism is,Hashimotos Disease (also known as Hashimoto’s Syndrome or Hashimoto’s Thyroiditis). Hashimoto’s Syndrome is an autoimmune disease in which our own antibodies attack the thyroid gland, reducing the thyroid function. Children with Down syndrome are more likely to develop Hashimoto’s Disease at a younger age as compared with children without Down syndrome. In addition, to Hashimoto’s Syndrome, about 20% of the children with Hashimoto’s Disease can also develop Grave’s disease, another autoimmune disorder causing hyperthyroidism (increased function of thyroid).
Why are children with Down syndrome at risk of developing Hashimoto’s disease?
Apart from thyroid disorders, other autoimmune diseases are also observed more frequently in population with Down syndrome. This include Scleroderma, Pernicious Anemia, Alopecia, Addison’s disease, Allergic dermatitis, Dermatomyositis, Coeliac disease, Sjogren’s syndrome, Polyarteritis Nodosa, Multiple Sclerosis and Systemic Lupus Erythematosus. It is believed that genetic defect in Down syndrome triggers the autoimmunity leading to many autoimmune disorders including Hashimoto’s Disease.
It is advised by doctors that babies born with Down syndrome should be examined for thyroid functions from time to time (ideally at age of 6 months, 1 year and then on annual basis). The frequent testing allows early diagnosis and efficient treatment. In addition, it also minimizes the risk of life-threatening complications.
In addition to be aware about congenital hypothyroidism above, parents need to be aware that children with Down syndrome can also develop Hashimoto’s Disease. Unfortunately, symptoms of Hashimoto’s Syndrome like lethargy, drowsiness and weight gain are non-specific and may be missed easily. Thus, parents of Down syndrome should be aware that their child is at increased risk of developing Hashimoto’s Disease. If the childwith Down syndrome experiences any symptoms like drowsiness, mood swings, confusion and unusual bowel movement then they should immediately be assessed for thyroid gland functions.
Image Credit: http://www.wellnessalternatives-stl.com/five-steps-for-low-thyroid-symptom-relief/
Sameer Ather MD, PhD is a Cardiologist based out of Birmingham, Alabama and is also the co-founder and CEO of websitewww.xpertdox.com, which is designed to help patients suffering from rare or serious diseases.His current research focus is to identify heart failure patients who do not benefit from beta-blocker.
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