Glossary

AADD -- This is the acronym for All About Developmental Disabilities.  AADD is in Atlanta and offers a variety of programs for individuals with developmental disabilities.

ADA -- This is the acronym for the Americans with Disabilities Act, which prohibits discrimination by employers, government agencies, and public accommodations (such as public buildings, public transportation, schools, restaurants, hotels, theaters, etc.) against people with disabilities, including individuals with Down syndrome.

ADHD -- This is an acronym for Attention Deficit Hyperactive Disorder, a condition in which there is difficulty staying "on task" and problems with hyperactivity and impulse control.

Adult Down Syndrome Clinic -- This is a clinic funded by the Down Syndrome Association of Atlanta and operated by the Institute for the Study of Disadvantage and Disability.  A multidisciplinary team, including a medical provider, social worker, psychologist, social worker, nutritionist, etc. evaluates adolescent and adult individuals with Down syndrome and assists in the development of a life plan.

advocacy -- Advocacy means acting on behalf of another.  Advocates work to protect the rights and opportunities of individuals with disabilities. 

Alpha-A-crystallin Gene -- This is a gene that controls the amount of protein in the lens of the eye and may be connected to the development of cataracts.

Alpha-feto protein (AFP) -- AFP is a protein present in the blood of pregnant women.  Abnormally low amounts of it may indicate that the fetus has Down syndrome.  It is one of the substances tested in early prenatal tests.

Alzheimer's Disease -- Alzheimers Disease is a degenerative disease of the brain that causes the gradual loss of mental ability.  Although usually a disease of older adults, there is a higher incidence of Alzheimer's Disease in individuals with Down syndrome, sometimes with an onset as early as in the 30's.

amblyopia -- "Lazy eye."  Amblyopia that is not treated can result in the loss of vision in the weaker eye.  When diagnosed early, it can be corrected by putting a patch over the dominant eye, thus helping the weaker eye to develop.

amniocentesis -- A method to test the cells of a fetus for possible genetic defects.  Usually done during the 5th month of pregnancy, a needle is inserted through the mother's abdomen and a small amount of amniotic fluid is removed.  This chromosomes within the cells can then be tested.

amniotic fluid -- The fluid in the uterus that surrounds a fetus.

Amyloid Beta Protein Gene -- A gene that controls the production of certain proteins in the brain.  It is believed that this protein is affected in both Down syndrome and in Alzheimer's Disease.

ankle-foot orthotics (AFOs) -- AFOs are orthotics that are worn inside shoes and provide extra support to ankles and feet.  Many young children with Down syndrome have weak ankles and need this extra support when they are first learning to walk.

ARC -- An organization previously named "The Association for Retarded Citizens" but now simply called "The ARC."  This has traditionally been a parent-run organization that advocates for individuals with cognitive disabilities.  The ARC was instrumental in getting the first special education laws passed in the 1970's.

astigmatism -- An irregularity in the cornea, which is the clear outer part of the eyeball.  It has also been called a cornea "out of the round."  Because it is thicker in some places than others, light rays are bent unevenly, causing blurred vision.  It can exist along with any other vision problem and can be corrected with glasses or lenses.

atlantoaxial instability -- Instability in the joints of the upper bones of the spinal column, resulting in weakness in the neck region.  Many individuals with Down syndrome have atlantoaxial instability.  It presents a precaution for tumbling, gymnastics, etc.

atrial septal defect (ASD) -- A defect, usually a small hole, in the wall between the two upper chambers of the heart. 

atrioventrical canal defect (AV canal) -- A defect in the structure of the heart in which the walls of the two upper chambers and the two lower chambers may be deformed.

audiology -- Tests of hearing ability.  A typical audiometric test determines the threshold of hearing at the frequencies most often used in human speech.  It also can include the ability to hear and repeat words when presented through earphones.

auditory brainstem response (ABR) -- a hearing test that measures electronically the brain's reception of sound.  It can be used to measure hearing in infants who are unable to give a verbal response to more traditional audiometric tests.  It is also called auditory evoked potential, auditory evoked response, and evoked response audiometry.

autism -- Autism is actually a spectrum of developmental disorders characteristics by social and communicative problems.  It can range from pervasive developmental delay in young children and from Asperger's to full-blown autism.  It can exist along with other disabilities, including Down syndrome.

awareness (see public awareness)

Babies Can't Wait -- A statewide early intervention program in Georgia that provides interagency service delivery for infants and toddlers wtih developmental delays or disabilities and their families.  It is part of the IDEA, which guarantees all eligible children access to services that will enhance their development.  The Georgia Department of Human Resources Division of Public Health is the lead agency for administering the program.

Best Buddies -- Best Buddies International was started in 1989 by Anthony Kennedy Shriver, a nephew of President Kennedy and son of Eunice Shriver, who started Special Olympics.  Best Buddies pairs individuals with intellectual disabilities with high school or college students for the purpose of developing friendships through joint activities.   DSAA co-sponsors a Best Buddies program with Agnes Scott College.

brachycephaly -- A condition in which the back of the skull is somewhat flatter than normal.

Bregman Conference -- A conference for young adults with developmental disabilities who are developing skills as self-advocates.  It is offered each spring in memory of Dr. Larry Bregman, who was an Atlanta pediatrician who had a particular interest in children with developmental disabilities.

Brushfield spots -- Light spots on the outer part of the iris in the eye, often a manifestation of Down syndrome

Buddy Walk -- a fundraising event held in the community on behalf of a Down syndrome organization.  Biddy Walk is a registered trademark for the National Down Syndrome Society and those holding Buddy Walks do so in compliance with a contract with NDSS.  In Atlanta it is held in October, which is National Down Syndrome Month.  At the Buddy Walk there is food, games, music, entertainment, and a walk.  Teams raise money for DSAA and there are donated items for a raffle and a silent auction.  It is the biggest fundraising event of the year for DSAA and around 100 volunteers are needed to make it happen.

cardiac catherization -- A surgical technique in which a catheter is passed into the heart so that blood pressure and blood flow can be measured and viewed. 

cardiologist -- A doctor who specializes in diagnosing and treating heart conditions. 

cataracts -- A disease of the eye in which the lens become cloudy or opaque, resulting in partial or total blindness.  Cataract surgery is very effective in removing the cloudy lens and inserting an artificial one, usually resulting in excellent vision.

celiac disease -- A disease of the intestines characterized by the inability to digest gluten, a substance found in wheat, barley, rye, and other products.  A gluten-free diet can help prevent the stomach ache and diarrhea, etc. that accompany the condition.  Many individuals with Down syndrome have celiac disease.

chorionic villi sampling (CVS) -- A method for testing the chromosomes of an embryo at 9 - 11 weeks of pregnancy.  A small number of fetal cells are removed from the chorion (the outside of the placenta) through a catheter inserted through the cervix into the uterus.  The cells' chromosomes are then tested.

chromosomes -- Microscopic rod-shaped bodies in the nucleus of every cell of the body that contain genetic material.  There are 23 pairs of chromosomes (one from each parent), resulting in 46 total.  In Down syndrome, there is an extra chromosome 21, resulting in 3 rather than 2, or 47 total.

cognition -- Cognition is the process of perceiving, thinking, reasoning, and analyzing.  Many individuals with Down syndrome have problems with cognitive tasks or exhibit cognitive delays.

conductive hearing loss -- A hearing loss that occurs because sounds are not getting to the inner ear, or cochlea, where they can be processed and sent to the auditory nerve and the brain.  A conductive hearing loss can occur because of excess cerumen (wax) in the ear, because of problems with the tympanic membrane (eardrum), because the bones in the middle ear are not working correctly, or because of fluid in the middle ear.  Conductive losses can make speech and language learning very difficult.  Unlike sensorineural (nerve) losses, however, they can be medically or surgically corrected, resulting in normal hearing.  Also, hearing aids work very well for individuals who have a conductive loss as making sounds louder results in normal hearing.  Many children with Down syndrome have conductive hearing losses, sometimes a result of shorter Eustachian tubes and a greater prevalence of fluid in the middle ear.

congenital heart defects -- A defect of the heart that is present from birth.

cost of care liability -- A concern in setting up special needs trusts -- the state that is providing care to a person with a disability has a right to charge that individual for care and to collect from his or her personal assets.  Trusts can be set up so that the person can benefit from state funded programs without tapping into their personal assets.

cyanosis -- A bluish color of the skin caused by a lack of oxygen in the blood.  It can occur in babies with heart defects.

Deeming Waiver (see Katie Beckett Waiver)

developmental delay -- A delay in any developmental area (fine/gross motor, speech/language, cognitive/social/emotional) in which the person is significantly behind typical developmental milestones.

developmental milestone -- A developmental goal that acts as a measurement of developmental progress over time, such as an infant rolling over between two to four months of age.  There are "typical" developmental milestones for all developmental areas.

discretionary trusts (see special needs trusts)

diuretics -- Drugs that increase the flow of urine, resulting in a decrease of fluid in the body.  They are often used by children with heart defects to reduce the stress on the heart.

Down Syndrome Specialists -- A program at DSAA that invites public school employees working with children with Down syndrome to partner with DSAA.  They become a liaison between DSAA and the school system and a conduit for information.  Down Syndrome Specialists are offered free membership, free attendance at conferences, and other perks.

duodenal atresia -- a narrowing or blockage of the first part of the small intestine.  This can usually be corrected by a simple surgical technique.

early intervention (see Babies Can't Wait)

echocardiogram -- A painless test that uses high-frequency sound wves to create an image of the heart.

electrocardiogram (ECG) -- A medical instrument that measures the electrical impulses of the heart.  These measurements show a cardiologist how a heart is functioning and can reveal heart disease.

Emory Down Syndrome Clinic -- A clinic funded by DSAA and operated by the Emory University Department of Genetics.  It provides a comprehensive evaluation (genetics, medical, developmental, and educational) for infants and children with Down syndrome up to age 7.

ENT -- An acronym for Ear, Nose, and Throat specialists.  These are medical doctors who specialize in ENT -- they see many children with Down syndrome for ear infections, tonsil and adenoid problems, sleep apnea, etc.

endocrinologist -- a medical doctor specializing in the endocrine system, which includes hormones.  Many individuals with Down syndrome see endocrinologists for thyroid disorders.

epicanthal folds -- Small folds of skin in the inner corners of the eyes.  They are often present in babies with Down syndrome.

estate planning -- Formal written arrangements for handling the assets of a person after death.  Many parents of individuals with Down syndrome do estate planning so that they can be sure their loved one is cared for in the future without losing any public assistance to which they are entitled.

ETs-z gene -- This is a gene found on the 21st chromosome involved in cancer or leukemia.  It is called an oncogene because of its relationship to cancer.  Interestingly, leukemia is a little more prevalent in individuals with Down syndrome, but solid tumors are very rare.

eustachian tube -- A small tube between the middle ear and the back of the throat that controls air pressure in the middle ear.  If it becomes blocked fluid can build up in the middle ear, resulting in a conductive hearing loss.  In many individuals with Down syndrome, the eustachian tube is very short and problems with the tube and ear infections are common.

expressive language -- The ability to use gestures, words, or written symbols to communicate.  Many individuals with Down syndrome have significant delays in expressive language.

FAPE -- an acronym for free appropriate public education, which is guaranteed for every child under the IDEA

feeding therapy -- When a child has oral aversion or oral sensitivity, when he/she has had to be fed through a tube, or when he/she has an extremely weak suck and isn't nursing well, feeding therapy may be needed.  An occupational or speech therapist typically does feeding therapy, incorporating behavior management techniques with feeding techniques.

fine motor -- fine motor skills involve the small muscles of the body, such as hands, feet, fingers, toes, etc.  Skills involve self-help such as dressing, or hand skills such as feeding oneself, drawing/writing.  Fine motor skills are involved in manipulating toys and learning about the world around you.

First Call Ambassadors -- These are parents of children with Down syndrome who are members of DSAA and have been trained to talk with medical providers (OB/GYNs) and share information with expectant parents. 

gastroenterologist -- A medical doctor specializing in the digestive track.

gastroesophageal reflux (GERD) -- A condition in which stomach contents (including stomach acids) flow upward into the esophagus, causing heartburn and eventual erosion of esophageal tissue.

generalization -- Being able to use a skill learned in one setting or situation in a different setting or situation.  Generalization is also used to take information about an object or concept and make conclusions about a similar object or concept.  It is often a skill that is difficult for individuals with Down syndrome, and may require attention in the classroom or in therapy.

genes -- Genes are contained within chromosomes and contain hereditary material.  They control specific traits.

geneticist -- A person who studies genes, chromosomes, and heredity.  Because Down syndrome involves chromosomes, geneticists are usually involved in making the diagnosis, counseling parents, and helping understand the implications of the condition.

Georgia Council on Developmental Disabilities -- Formerly the Governor's Council on Developmental Disabilities.  GCDD collaborates with Georgia's citizens, public and private advocacy organizations and policymakers to positively influence public policies that enhance the quality of life for people with disabilities and their families.  This is done through education and advocacy activities, program implementation, funding and public policy analysis and research.

gross motor -- Involving the large muscles of the body.  These skills include rolling over, sitting up, crawling, walking, running, etc.

guardian ad litem -- A guardian ad litem is a person appointed by a court to act in the best interests of an individual who cannot make decisions for himself/herself.

Hirschsprung's disease -- A condition in which there are no nerve cells in the colon (large intestine).  It appears  during early infancy and causes the colon to discend.

Holiday Dance -- for over 20 years there has been a Holiday Dance the first Saturday in December.  Over 500 individuals with developmental disabilities attend this event.  Starting in 2009 DSAA will be the sponsor of the Holiday Dance in Atlanta.

hyperextensibility -- A condition in which joints (hips, shoulders, etc.) are unusually flexible.  Many individuals with Down syndrome have hyperextensibility, resulting in low tone.

hypermetropia -- The term for farsightedness, a condition in which near objects are  blurred and objects at a distance can be seen clearly.  It can be corrected with glasses.

hypothyroidism -- the decreased production of thyroid hormone by the thyroid gland.  This condition is more common in babies with Down syndrome than in other children, but is easily treated.

hypotonia -- Low muscle tone.  Most individuals with Down syndrome have some degree of hypotonia.

IDEA -- This is an acronym for the Individuals with Disabilities Education Act, the law that establishes the right of children with disabilities, including those with Down syndrome, to a free, appropriate public education.

IEP -- An acronym for Individualized Education Program, which is a written report that details the special eduation program to be provided a child aged three and older who has a disability.

IFSP -- An acronyn for Individualized Family Service Plan, which is a written report that details the early intervention services to be provided an infant or toddler with a disability, including one with Down syndrome.

inclusion -- The practice of having children with Down syndrome and other disabilities attend the same school and classes they would attend if they did not have a disability.

ISDD -- This is an acronym for the Institute for the Study of Disadvantage and Disability, which runs the Adult Down Syndrome Clinic in Atlanta.

Katie Beckett Waiver -- A Medicaid waiver program named after the child (Katie Beckett) whose family argued that they should be afforded the funding that would be spent on institutionalization of their child to provide support services at home if they chose not to have their child institutionalized.  Medicaid is for low income families but the Katie Beckett Waiver "waives" the income requirement and provides Medicaid benefits to children with disabilities who would be at risk for institutionalization if those funds were not available to help with the cost of services.  Many children with Down syndrome are on Katie Beckett Waivers.

LRE -- This is an acronym for least restrictive environment, which is a requirement under the IDEA that children with disabilities receiving special education must be made a part of a regular school to the fullest extent possible.  It was included in the law as a way to end the traditional practice of isolating children with disabilities in special classes and special schools.

leukemia -- Leukemia is a cancer of the blood.  Children with Down syndrome are at increased risk for developing leukemia.

Medicaid -- Medicaid is a federal/state partnership to offer medical assistance to people entitled to receive Supplemental Security Income (SSI).

Medicaid Waiver -- There are a variety of waiver programs in each state to "waive" Medicaid eligibility requirements, allowing additonal individuals to receive Medicaid benefits.  The Katie Beckett Waiver and the NOW are two in Georgia that affect individuals with Down syndrome.

MR/DD -- These acronyms are for Mental Retardation/Developmental Disability.  Mental retardation is below average mental function combined with below average adaptive behavior.  Children with mental retardation learn more slowly than other children, but the term "mental retardation" itself does not indicate the child's level of cognitive ability.  A preferable term used today is "cognitive disability" or "intellectual disability."  The term "retarded" has a lot of negative connotations today and is offensive to many.  Developmental disabilities are those that affect major life skills and appear in the developmental period up to age 18.

metatarsus varus -- abnormal toeing in of the foot

microcephaly -- head size that is at or below the third percentile on "normal" growth charts.  Many individuals with Down syndrome have microcephaly.

Mosiacism -- a rare type of Down syndrome in which a faulty cell division occurs inone of the first cell divisions after fertilization.  The result is that some but not all of the baby's cells contain extra genetic material.  The effects of Mosaic Down syndrome can be less obvious.

myopia -- Myopia is nearsightedness, a condition that causes objects in the distance to be blurred and near objects to be seen clearly.  It can be corrected with glasses.

naso lacrimal duct obstruction -- Blocked tear ducts.  Many babies with Down syndrome have this condition.  There are surgeries available to open the tear ducts and insert small tubes to keep them open.

NDSC -- This is an acronym for the National Down Syndrome Congress, which has headquarters in Atlanta.

NDSS -- This is an acronym for the National Down Syndrome Society, which has headquarters in New York.

NDT -- This is an acronym for neurodevelopmental treatment. NDT is an approach to therapy that emphasizes discouraging abnormal patterns of posture and movement and facilitates the greatest possible variety of innate normal basic motor patterns.  It can be used by physical, occupational, or speech therapists.

nondisjunction -- This is the failure of the sex cell (sperm and egg) chromosomes to separate properly during meiosis.  This can be a cause of Nondisjunction Trisomy 21.

Nondisjunction Trisomy 21 -- The most common type of Down syndrome, caused by the failure of chromosome number 21 to separate during meiosis of the egg or sperm.

object permanence -- the cognitive understanding that objects exist even when they are out of sight.  The "typical" age for achieving object permanence is around 18 months

occupational therapy -- therapy that focuses on improving the development of fine motor and adaptive skills

ophthalmology -- the medical field specializing in diagnosing and treating diseases of the eye

oral motor -- relating to the muscles in and around the mouth and face.  Oral motor skills are important in both eating and talking.

palate -- the "roof" of the mouth -- movements of the soft and hard palate are necessary to make certain speech sounds

Parent Liaisons -- These are parents of children with Down syndrome who are DSAA members and have been trained to serve as liaisons to the 26 birthing hospitals in the metro Atlanta area.  They make monthly contact with hospital staff, ensure that the hospitals have a supply of New Parent Packets, and are available to talk to or meet with new parents (as requested).

Partial Trisomy 21 -- a rare condition in which the extra 21st chromosome in the cells of a child with Down syndrome is missing part of its genetic material.  Which characteristics of Down syndrome are present depends on which portion of the 21st chromosome is present.

patellar instability -- instability of the kneecap

peridontal disease -- disease of the gums and bones surrounding the teeth

perinatology -- medical doctors who specialize in high-risk pregnancies and newborns who have developmental disabilities

pes planus -- flat feet

physical therapy -- therapy to overcome physical problems, such as low muscle tone or weak muscles.  Many children with Down syndrome are seen by physical therapists to work on gross motor skills.

pincer grasp -- the use of the thumb and forefinger to grasp small objects.  This is one of the goals in occupational therapy for many children.

plans for achieving self support (PASS) -- An SSI program in which the recipient can receive income or assets in his/her own name, provided the funds will be used to make it possible for him/her to work in the future, or to establlish a business or occupation that will enable him/her to become gainfully employed.

public awareness -- activities designed to educate the public about Down syndrome and the potential of individuals who have Down syndrome

pulmonary hypertension -- High blood pressure in the blood vessels in the lungs.  It can result from heart defects that cause excessive amounts of blood to be pumped into the lungs, and can be fatal if not corrected

pyloric stenosis -- A narrowing of the opening between the stomach and the duodenum, the first part of the small intestine.  Can be surgically corrected.

receptive language -- the ability to understand spoken, signed, or written communication

respite care -- care provided to enable parents or caregivers to have time away from their child

Section 504 of the Rehabilitation Act -- A federal law that prohibits discrimination on the basis of disability in programs receiving federal funds.

seizures -- sudden loss of consciousness or convulsion resulting from abnormal electrical activity in the brain

self-help -- the ability to take care of oneself, including eating, dressing, toileting, bathing, cleaning.  Begins early with awareness, responsiveness, and participation in self-help activities

sensorineural hearing loss -- a hearing loss that is the result of nerve damage in either the cochlea or along the auditory nerve. 

sensory integration -- being able to integrate information from seeing,hearing, feeling, etc.  Some children have problems interpreting information from the senses and are overwhelmed by incoming information

sensory processing - the ability to process sensations, such as touch, sound, light, smell, movement

siblings -- brothers and sisters

Sibley Heart Center -- a special center in Atlanta that serves children with heart problems

slanting palpebral fissures -- the upward slanting appearance of the eyes of children with Down syndrome

sleep apnea -- An interruption in breathing during sleep.  A condition in which breathing stops momentarily (for more than 5 seconds) during sleep.  Many children with Down syndrome have sleep apnea and it is recommended that all children with Down syndrome have a sleep study by age 5

special needs trust -- a trust set up for a child with a disability that protects his/her governmental benefits but allows funds to be set aside for special interests and activities

speech therapy -- therapies to improve oral motor skills and to learn receptive and expressive language

SSI -- an acronym for Supplemental Security Income. This is a federal public assistance program for qualified people with disabilities.

strabismus -- crossed eyes, when one or both eyes look inward or outward.  Can be corrected surgically

syndrome -- a group of symptoms or traits that indicate a particular condition. 

tactile defensiveness -- an overreaction to touch or an avoidance to touch

tongue protrusion -- a habit of sticking the tongue out repeatedly.  some individuals with Down syndrome have normal sized tongues but small mouths and jaws and tongue protrusion seems more obvious

tracheo-esophageal fistula -- a condition in which there is an abnormal opening between the intestinal tract and the respiratory system -- it requires immediate surgical correction

Translocation Trisomy 21 -- A rare for of Down syndrome caused whenpart of the 21st chromosome breaks off during meiosis and attaches to another chromosome

transverse palmar or simian crease -- a single crease across the palm of the hands of some children with Down syndrome.  It is one of the physical traits used to identify Down syndrome

triple screen or triple test -- a prenatal combined screening for genetic markers of Down syndrome

Trisomy 21 -- another name for Down syndrome -- there are three rather than two 21st chromosomes in cells

tympanometry -- an audiometric test that measures fluid in the middle ear (behind the ear drum) or detects a blockage of the eustachian tube

ventricular septal defect (VSD) -- a hole in the wall separating the two lower chambers of the heart

vestibular -- pertaining to the system located in the inner ear that deals with balance and the ability to enjoy movement lilke swinging and roughhousing

World of Wheels -- an auction that is held at the Atlanta Car Show in January.  Volunteers from DSAA assist with the auction and proceeds are donated to DSAA