MICROCEPHALYBy: Jack Szymanski

What is it?

Microcephaly is a neurodevelopment disorder where an infant’s head does not develop normally and remains abnormally small when compared to the heads of others the same age and sex.

Confusion?

Microcephaly means “small head.” It is very similar to and should not be confused with the word microencephaly, which means “small brain.” The skull size (and thus head size) is determined by brain size, therefore a person with microcephaly is guaranteed to have microencephaly as well.

A little history

Microcephaly was first noticed in children of pregnant Japanese women who survived the atomic bombings of Hiroshima and Nagasaki. The radiation mutated the children.

Currently there is a heavy presence of microcephalic children in Amish country in Philadelphia.

Causes

Microcephaly is the result of a mutation on one of the six microcephalin genes. The most common being the MCPH1gene.

Each gene corresponds to one of the three common types of microcephaly: Autosomal Dominant Autosomal Recessive (most common) X-Linked N terminal

of BRCT of MCPH1

Causes

There are two forms of microcephaly. They are determined by when the mutation occurs. If it is in the womb it is congenital onset microcephaly. If it occurs after birth it is postnatal onset microcephaly.

Microcephaly can either be inherited from parents that carry the mutated gene or can occur randomly due to a plethora of disorders and environmental conditions.

Causal Conditions- Congenital Onset

Causal Conditions- Postnatal Onset

Symptoms

Microcephaly results in an abnormally small head size. With this comes multiple symptoms: Dwarfism Delayed motor and speech functions Mental retardation Facial distortions Seizures Hyperactivity Balance and coordination problems Shortened life span Limited mental capacity

Some people with microcephaly have grow up to have normal intelligence.

Cure

There is no cure for microcephaly. It is impossible without the technology to stimulate nerve cell growth, which has yet to be developed.

Current treatment focuses on mitigating the effects of the symptoms of microcephaly. If caught early on, speech therapy and physical

therapy may be able to mitigate the effects of motor and speech dysfunction that is sure to ensue.

Medicine to treat hyperactivity has been developed.

Scientists have recently discovered that amino acid therapy can significantly reduce the occurrence of seizures.

Bibliography

http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm

http://www.mayoclinic.com/health/microcephaly/DS01169

http://www.medicinenet.com/microcephaly/page3.htm

http://en.wikipedia.org/wiki/Microcephalin http://en.wikipedia.org/wiki/Microcephaly http://www.nlm.nih.gov/medlineplus/ency/

article/003272.htm