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The Down syndrome Glossary

Posted Jan 27 2009 6:30pm

Get It Down; 31 for 21
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Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness that is of short duration, rapidly progressive, and in need of urgent care.

Alzheimer's disease: See: Alzheimer disease.

Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.

Atresia: Absence of a normal opening or failure of a structure to be tubular.

Birth defect: Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic.

Bridge: A set of one or more false teeth supported by a metal framework, used to replace one or more missing teeth.

Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .

Chromosome: A visible carrier of the genetic information.

Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.

Clinical: 1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients).

Condition: The term "condition" has a number of biomedical meanings including the following:

An unhealthy state, such as in "this is a progressive condition."
A state of fitness, such as "getting into condition."
Something that is essential to the occurrence of something else; essentially a "precondition."
As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities.

Dementia : Significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning.

Developmental delay: Behind schedule in reaching milestones of early childhood development.

Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.

Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Down syndrome : A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual.

Duodenal: Pertaining to the duodenum, part of the small intestine. As in duodenal ulcer or duodenal biliary drainage.

Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain.

Epicanthal fold: A fold of skin that comes down across the inner angle (canthus) of the eye. The epicanthal fold is more common in children with Down syndrome and other birth defects than normal children and so is of value in diagnosis. Although some dictionaries state that this eye fold is found in peoples of Asian origin, this is not true. The normal Asian eyefold is continuous with the lower edge of the upper eyelid and actually appears distinctly different than a true epicanthal fold.

Eye: The organ of sight. The eye has a number of components. These components include but are not limited to the cornea, iris, pupil, lens, retina, macula, optic nerve, choroid and vitreous.

Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.

Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.

Heritable: Capable of being transmitted from parent to child.

Iris: The iris is the circular, colored curtain of the eye. Its opening forms the pupil. The iris helps regulate the amount of light that enters the eye.

Leukemia : Cancer of the blood cells. The growth and development of the blood cells are abnormal. Strictly speaking, leukemia should refer only to cancer of the white blood cells (the leukocytes) but in practice it can apply to malignancy of any cellular element in the blood or bone marrow, as in red cell leukemia (erythroleukemia).

Megacolon: An abnormally enlarged colon.

Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation.

Microscope: An optical instrument that augments the power of the eye to see small objects. The name microscope was coined by Johannes Faber (1574-1629) who in 1628 borrowed from the Greek to combined micro-, small with skopein, to view. Although the first microscopes were simple microscopes, most (if not all) optical microscopes today are compound microscopes.

Mongolism: Obsolete name for Down syndrome .
See the entire definition of Mongolism

Nasal: Having to do with the nose. Nasal drops are intended for the nose, not (for example) the eyes. The word "nasal" came from the Latin "nasus" meaning the nose or snout.

Nose: The external midline projection from the face.

Obstruction: Blockage of a passageway. See, for example: Airway obstruction; Intestinal obstruction.

Palate: The roof of the mouth. The front portion is bony (hard palate), and the back portion is muscular (soft palate).

Race: An ethnic stock or division of humans. Naturalists and ethnographers have long divided humans into a variable number of distinct races. However, DNA and other genetic studies have revealed that that most genetic variation, about 94%, is within so-called racial groups while these racial groupings differ from one another only in about 6% of their genes. This means that there is greater genetic variation within racial groups than between them. The concept of race is a superficial and subjective one. All of humankind is a single species.

Senility: 1. Originally, old age. 2. The physical decline associated with old age. 3. The mental decline once associated with old age but now known to be due to dementia , as for instance Alzheimer's disease and atherosclerosis. "The road to senility is paved with plaques." (Paul F. Wehrle, MD [1921-2004] pediatrician and vaccine researcher who helped eradicate smallpox)

Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.

Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.

Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 ( Patau syndrome ), trisomy 18 syndrome ( Edwards syndrome ) and trisomy 21 ( Down syndrome ). The most common trisomy among spontaneous abortions is trisomy 16
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