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Holoprosencephaly Research Paper

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Holoprosencephaly (HPE) is a fairly common birth disorder that occurs early after conception. HPE is a failure of division of the forebrain in embryonic development. The three major types of HPE are alobar, semilobar and lobar. The most severe is alobar. In alobar, the forebrain has made no division at all and these individuals show the most severe facial characteristics and impairments. Semilobar is slightly less severe than alobar. In semilobar, the forebrain has partially divided and individuals exhibit moderate features. The least severe is lobar. In lobar, the forebrain has mostly divided and individuals have fairly normal development. These three types of HPE affect 1 in 250 embryos during early development and 1 in 10,000 to 1 in 20,000 …show more content…
The cognitive impairment is caused by the forebrains inability to separate and as a result not function properly. This impairment can range of severe to mild depending on formation of the forebrain. The most severe cases of cognitive impairment show an IQ range of 20-35. Speech difficulties and poor motor control are seen in young children who have this disorder. As they grow, they are usually able to communicate but require lifelong assistance. In cases of moderate impairment, the IQ ranges from 36-51. These adults are usually able to learn simple occupational skills and can navigate familiar areas alone. They may require guidance during stressful times. In the mild cases, individuals develop normally up until the sixth grade level where they tend to fall behind other students academically. They are more independent than both moderate and severe cases of this disorder but still may require some assistance throughout life. Effects, whether physical or cognitive, greatly affect the development and autonomy of the …show more content…
There is not much that can be done to help treat HPE however treatment plans are usually based around the family’s needs not just the individual. Attending conferences and supportive groups are often recommended for families to help deal with this disorder. The treatment administered by doctors will mostly be symptomatic and supportive. They will often prescribe drugs that reduce the symptoms listed above. A potential drug that can help lessen symptoms would be heartburn medications that help deal with GERD. The prognosis in the past was rarely optimistic especially in the more severe cases. Most individuals who are born with this disorder die by age of six months. However with drugs that improve the quality of life the prognosis has improved over the

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Holoprosencephaly Research Paper

...Holoprosencephaly (HPE) is a cephalic disorder that occurs during embryonic development. The disorder prevents the normal separation of the frontal lobe (prosencephalon) into 2 separate bilateral hemispheres. In most severe forms, death occurs prior to birth. In some cases, it can prevent normal facial structure from developing resulting in structural abnormalities of the eyes, nose, and lip. The extent of seriousness of holoprosencephaly varies. The most serious form of HPE is known as alobar holoprosencephaly. Alobar HPE is characterized by no separation in the brain, absent midline structures, and possessing only one ventricle (the lateral and third ventricles are not present). A dorsal cyst is also present in individuals with alobar HPE,...

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