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Etiologies Minnesota DeafBlind
Census
Click here to download the 12/1/07 census results.
Some conditions (in the school-aged population)
on the Deafblind census are listed below. Please click on the name of any condition
that is in maroon and underlined to get more detailed information.
Specific
syndromes caused by altered genes or chromosomes: - Usher
Syndrome - Medical, Usher Syndrome - Educational
 CHARGE
Syndrome- Stickler Syndrome
-
Marshall Syndrome
- Down Syndrome
- Cornelia
DeLange Syndrome
- Cockayne Syndrome
- Goldenhar Syndrome
- Apert
Syndrome
- Crouzon Syndrome
- Hurler Syndrome (mucopolysaccharidosis
type I)
- Maroteaux-Lamy Syndrome (mucopolysaccharidosis type VI)
- Neurofibromatosis
type 1
- Turner Syndrome
- Wolf Hirschhorn Syndrome
- Waardenburg
Syndrome
- Pallister-Killian Syndrome
- Kearnes-Sayres Syndrome
- Lenz-Majewski
Hyperostosis
- Infantile Refsum Syndrome
- Chromosome deletion syndromes
Sometimes
conditions are listed as syndromes but they are actually just part of many other
syndromes. The following are listed on the census as causes of deafblindness
but they are actually just one part of something else that may not have been fully
described. - Pierre Robin sequence
- Peter's Anomaly
- Hydrocephaly
- Microcephaly
Nongenetic
conditions such as those caused by infection, injury, chemicals, or tumors.
- CMV (cytomegalovirus) - prenatal infection
- Toxoplasmosis - prenatal
infection
- Meningitis/encephalitis - any time after birth
- Brain
tumors
- Chemotherapy
- Head injury
- Stroke
- Asphyxia
(lack of oxygen)
- Complications of prematurity
- Fetal alcohol syndrome
- Maternal
drug use
Some conditions, like Peter's Anomaly or
hydrocephalus, are descriptions of conditions which may be present in many different
syndromes but do not, by themselves, constitute a syndrome. Medical
terms you may run across: - Etiology is a medical term meaning
the cause of a condition.
- Chromosomal means that a large enough
section of a chromosome is missing or rearranged so that it can be seen under
a microscope. The abnormal section may represent many genes. Each cell contains
46 chromosomes in 23 pairs. One of each pair comes from the mother and the other
from the father. Each chromosome is a long coiled double helix strand made up
of DNA.
- Genetic means that the condition is inherited through genes
passed on from the parents. Genes are small sections of chromosomes.
- Congenital
means "present at birth." This terms says nothing about the cause. It could
have been caused by a problem during pregnancy. It could have been caused by a
chromosome problem or by a genetic defect.
- Perinatal means around
the time of delivery.
- Neonatal means the first couple of weeks
after birth.
- Acquired or adventitious means that the condition
was not present at birth but happened or at least showed up later. This means
any time from birth to death.
- Environmental means the cause for
the condition was not inborn. It might be from an injury, an infection, drugs,
etc.
The non-genetic conditions may be acquired any time
from pregnancy to old age. For instance, some prenatal infections like Rubella
and CMV (cytomegalovirus) are well-known to cause deafblindness while treatment
for cancer involving chemotherapy and radiation only occasionally causes dual
sensory loss. Sometimes a person with a genetic hearing loss may lose eyesight
due to an accident or a person who is blind may become deaf due to meningitis. Resources:
Two general resources should be helpful to those seeking more information:
- http://nationaldb.org
DB-Link is a national clearinghouse for information on deafblindness. Voice: 800.438.9376
TTY: 800.854.7013 Articles may be available in full text online which you can
read or download or you can call a specialist to complete a search for you.
- http://www.kumc.edu/gec/support/
The Genetics Education Center at the Kansas University School of Medicine has
a wealth of information about genetics and links to information about individual
syndromes. Not all syndromes are included and more information may be available
elsewhere.
You may contact Dr. Sandra Davenport,
a pediatric geneticist with the MN DeafBlind Project if you need further
assistance (952.831.5522, slhdaven@tc.umn.edu). Back
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