How to Diagnose Ataxia Telangiectasia

A childhood immune deficiency condition, Ataxia Telangiectasia (AT) causes a progressive degeneration of the nervous system. It is characterized by neurological defects which cause an unsteady gait, dilate blood vessels in the skin and eyes and cause frequent infections due to immunodeficiency. With a poor prognosis and no known cure for this condition, the treatment aims to relieve symptoms and provide support.

Instructions

Difficulty: Moderately Challenging

1. Look for symptoms such as tiny red lesions on the face and eyes and decreasing loss of muscle control in your child. In children less than two years old, watch for drooling and slurred speech. They may also experience recurrent infections due to the lowered immune response (IgA.)
2. Make sure that your child has regularly scheduled physical checkup exams, as well exams during times of illness. Blood tests, such as the measurement of serum alpha-fetoproteins in the blood, provide an accurate diagnosis of AT. Diagnosis in children usually occurs between the ages of two to seven years old.
3. Ask about having tests performed on your child that that look for augmented sensitivity to x-ray exposure in their white blood cells. These blood cells help maintain the correct immune system control. Typically, patients with AT have a greater chance of having their white blood cells damaged after having an x-ray than other children.
4. Discuss genetic testing with your physician if you child is suspected of having AT. The gene for AT has been recognized and identified and is an aid in the verification of a diagnosis of AT.
5. Talk about treatment options with your child's physician. Occupational and physical therapists should be included and have input in the treatment plan to assist with the muscular degeneration that occurs and to help maintain functional mobility of the child.

Tips & Warnings

• Remember that all children, even those with AT, should be allowed to be children. Playing and attending school with other children helps them to develop a sense of self esteem and meet developmental milestones important to normal growth and development.