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Today, 24 November 2009

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Question

Some friends have a child who is very active during the day and will not sleep at night. I have read about a condition called Turner's syndrome. Could this be the cause of the problem? What can they do about the hyperactivity?

Answer

Turner's syndrome is caused by a defect in the chromosomes, in which a female child will have either only one, or part of one, X chromosome. It occurs in about 1 in 3000 live female births.

At birth the characteristic physical signs of the condition may be difficult to pick up, but the child may have swelling of the backs of the hands and tops of the feet and loose skin at the back of the neck. As the child gets older the physical signs are more noticeable. These are short stature, webbing of the skin on the sides of the neck, and low hairline at the back of the neck, a wide chest with broadly spaced nipples, multiple dark skin lesions called naevi, short fingers, poorly formed nails and no adult development of the genitals.

These girls are infertile, since the ovaries do not form. They are generally of normal intelligence, although they score poorly in performance tests and mathematics due to spacial disorientation. But they may have an above average verbal IQ.

The male equivalent of this is called Noonan's syndrome, which is a complex disorder which may occur sporadically, or may be a familial problem. The physical signs in the boy are similar to those in a girl, but they also often have abnormal development of the heart and blood vessels. The testes are often small and they have associated low levels of the sex hormone testosterone.

I have not heard of either of these conditions specifically causing hyperactivity.

The best thing your friends can do is to go to a paediatrician for a full assessment. He or she will then refer them to an appropriate specialist if the child is genuinely hyperactive.

MORE GENETIC ILLNESS Q&A'S
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