Answer to Question 1
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Ataxia-telangiectasia is a primary immunodeficiency disorder that results in progressive cerebellar degeneration. Telangiectasia or red vascular markings appear on the conjunctiva and skin at the flexor creases. Neurologic symptoms caused by the degeneration process can usually be detected in early infancy when developmental milestones are not met. Children develop an awkward gait when they begin to walk. Choreoathetosis or rapid, purposeless movements may develop. Unfortunately, there is no effective treatment, and children with this disorder often die in late adolescence of infection, respiratory failure, or a malignant brain tumor. The nurse should provide comfort measures when caring for this child. The patient may not be able to walk. It is an unrealistic expectation for this child to increase independence. A rehabilitation facility is not going to help with the long-term prognosis of this disorder.
Answer to Question 2
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Spasticity is excessive tone in the voluntary muscles that results in loss of upper motor neurons. A child with spastic cerebral palsy has hypertonic muscles, abnormal clonus, exaggeration of deep tendon reflexes, abnormal reflexes such as a positive Babinski reflex, and continuation of neonatal reflexes, such as the tonic neck reflex, well past the age at which these usually disappear. If infants with this disorder are held in a ventral suspension position, they arch their backs and extend their arms and legs abnormally. They tend to assume a scissors gait because tight adductor thigh muscles cause their legs to cross when held upright. This involvement may be so severe it leads to a subluxated hip. Posture when in a sitting position is not remarkable for this health problem.
Audiometry. The child in this photograph is undergoing a hearing test with an audiologist.
Transmission of autosomal dominant disorders (50% chance for an affected child).
The Growing Child
Developing Child, The
School can be discouraging and frustrating place for a child with a learning disability
An electron micrograph of a eukaryotic replicating fork demonstrating