Appendix E.6 Medical Glossary

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The National Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Study

Appendix E.6 Medical Glossary

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Appendix E.6 Glossary of Medical Terminology


Below are some definitions and descriptions of each of the conditions listed in the Maternal and Paternal Medical History Forms (p.XX and XX) and in the Autoimmune Survey (p. XX). If you remain in doubt about the meaning of any of the conditions, please mark it and we can go over it with you during a clinic visit.


Addison’s Disease:

A rare condition that develops when the adrenal glands are not able to produce enough of the hormones cortisol and aldosterone.

Allergies:

The immune system overreacts to certain substance causing inflammation (swelling) or irritation of the eyes, nose, throat, lungs, skin, or digestive system. Examples include hayfever, and allergy to mold, dander, pollen, dust, drugs, or food.

Ankylosing Spondylitis:

A form of inflammatory arthritis that causes inflammation (swelling) of the joints between the vertebrae of your spine and the joints between your spine and pelvis (at the hip). The disorder gets worse over time and often causes pain and stiffness in the back, hips, and shoulders. More severe forms of the disease causes fatigue, weight loss and can affect the eyes and heart.

Anxiety Disorder:

A psychiatric disorder characterized by feelings of anxiety, fear, or worrying. Types of anxiety disorders include: panic attacks, separation anxiety, obsessive, compulsive disorder, and posttraumatic stress disorder.

Aplastic Anemia:

Low levels of red blood cells because the bone marrow is unable to produce enough blood cells. Initial symptoms include: weakness, fatigue, recurrent or persistent infections, and/or easy bruising and bleeding.

Asperger’s Syndrome:

Asperger syndrome, one of the autistic spectrum disorders, is a pervasive developmental disorder characterized by difficulty communicating or relating socially with others. Other symptoms may include being uncoordinated, unusual interests, repetitive routines or rituals, different ways of speaking or using language. See Autism Spectrum Disorders.

Asthma:

A condition that causes wheezing or difficulty breathing. Treatment may involve using steroid inhalers or tablets. Symptoms may get worse with exposure to pollen, mold or tobacco smoke.

Attention Deficit Hyperactivity Disorder (ADHD/ADD):

A behavior disorder that causes a person to have great trouble paying attention, to be hyperactive or impulsive to a point that causes problems for the individual in school, work, or social situations.

Autism:

See Autism Spectrum Disorders.

Autism Spectrum Disorders

A neurodevelopmental disorder that causes a person to have problems socially interacting with other people, talking or communicating with others, and behavioral development that requires routines schedules and predictable conditions. Autism spectrum disorders include Autistic Disorder, Pervasive Developmental Disorder – Not Otherwise Specified, and Asperger’s Syndrome.

Autoimmune Hepatitis:

A disease in which the body's immune system attacks liver cells causing the liver to become inflamed (swollen, irritated). Symptoms often include excess hair growth, acne, arthritis, and an enlarged liver.

Bipolar Disease:

A psychiatric disorder that causes mood swings from mania (exaggerated feeling of well-being, energy, and confidence) to depression (saddness, lack of self-esteem).

Birth Defect:

A malformation or defect that is present when a child is born, usually recognized before or at birth, such as limb defects, cleft lip and cleft palate and heart defects.

Bleeding/Clotting Disorders:

Bleeding disorder: A group of conditions of the blood clotting (coagulation) system in which bleeding following an injury is prolonged and excessive. Clotting disorder: A group of conditions of the blood clotting (coagulation) system in which potentially dangerous blood clots can form.

Cancer:

Develops when cells in a part of the body begin to grow out of control. Types include: breast, bone, bladder, brain, leukemia, lymphomia.

Cardiovascular Condition:

A problem affecting the heart, blood vessels, or circulation of the blood.

Celiac Disease (sprue):

Digestive condition in which eating the protein gluten (found in wheat, barley or rye) causes damage to small intestines.

Cerebral Palsy:

A disorder that affects a person's ability to move and to maintain balance and posture, usually diagnosed in the first year of life.

Crohn’s Disease:

Chronic form of inflammatory bowel disease; causes severe irritation in the gastrointestinal tract; usually affecting lower-intestine and/or colon.

Childhood Disintegrative Disorder:

Disorder characterized as marked regression after a period of 2 years of normal development; significant loss of skills in at least two of the following areas: use or understanding of language, social skills, bowel or bladder control, or motor skills.

Cystic Fibrosis:

A chronic, progressive disease that causes mucus to become thick and build up, which clogs the passages to organs, mainly the lungs and the pancreas. Blocked pathways to the lungs can create breathing problems.

Depression:

Severe, depressed mood that interferes with normal living. Symptoms incude extended saddness, lack of self-esteem, loss of interest or pleasure in normal activities, decreased energy, changes in sleep and appetite, and feelings of guilt or hopelessness that are present for at least two weeks.

Dermatitis Herpetiformis (celiac disease of the skin):

Chronic dermatitis (swelling of the skin) characterized by of itching, raised, areas of the skin and swollen or infected areas on the skin that resemble clusters of hives.

Diabetes:

A problem with controlling insulin levels and processing sugars that results in high or low blood-sugar. The three main types of diabetes are Type 1, also known as insulin-dependent diabetes mellitus or juvenile diabetes; Type 2, also known as adult onset, non-insulin dependent diabetes; and Gestational diabetes which usually occurs just during pregnancy.

Down Syndrome:

Down syndrome is a genetic condition that causes delays in physical and intellectual development.

Eating Disorder:

A disorder involving unhealthy weight control practices that may include extremely low food or calorie intake (anorexia) or vomiting (bulimia) to lose weight.

Eczema/Psoriasis:

Eczema is a chronic skin condition that causes the skin to become dry, itchy, or scaly. Psoriasis is a chronic inflammatory skin condition in which the skin develops pink or silvery-white scaly patches, often over the scalp and knee and elbow joints.

Endocrine Disorder (hormonal disorder):

Problems in organs or glands that make hormones, which results in problems with reproduction, metabolism (food burning and waste elimination), and growth.

Fragile X Syndrome:

Fragile X syndrome is a hereditary condition which causes a wide range of mental impairment, from mild learning disabilities to severe mental retardation.

Gastrointestinal Disorder:

Condition related to the gastrointestinal tract. Conditions might be related to the small and large intestine, rectum, and stool patterns.

Giant Cell Arteritis (temporal arteritis and cranial arteritis):

Disorder that results in swelling of arteries in the head (most often the temporal arteries located on each side of the head), neck, and arms.

Graves’ Disease (diffuse toxic goiter):

Over-activity of the thyroid gland that becomes enlarged into a goiter. Graves’ disease is the most common cause of hyperthyroidism.

Guillain-Barré Syndrome (Landry’s ascending paralysis):

A disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms include weakness or tingling sensations in the legs.

Hashimoto’s Thyroiditis:

A type of autoimmune thyroid disease in which the immune system attacks and destroys the thyroid gland. The thyroid helps set the rate of metabolism - the rate at which the body uses energy.

Hearing Impairment:

A reduction in the ability to perceive sound; range from slight inability to complete deafness.

Hemolytic Anemia:

Disorder in which the red blood cells are destroyed faster than the bone marrow can produce them. TYPES: intrinsic or extrinsic relating to way the cell is destroyed.

High Blood Pressure:

Occasional or constant elevation of systemic arterial blood pressure to a level likely to induce cardiovascular damage or other adverse consequences (usually over 140/90).

Hyperthyroidism:

Condition in which there is too much thyroid hormone in the body.

Hypothyroidism:

This condition is characterized by having too little thyroid hormone in the body.

Irritable Bowel Syndrome

Disorder of the large and small intestines that causes abdominal pain or discomfort, constipation or diarrhea.

Learning Disability:

A disorder in one or more of the basic cognitive and psychological processes involved in understanding or using written or spoken language.

Lupus, or Systemic Lupus Erythematosus (SLE):

Tissue disease, mostly among women, characterized by fever, skin rash, and arthritis, often by anemia, inflamed mucus membrane, and involvement of the heart and kidneys.

Mental Retardation:

Mental retardation is characterized both by a significantly below-average score on a test of mental ability or intelligence and by limitations in the ability to function in areas of daily life, such as communication, self-care, and getting along in social situations and school activities. Mental retardation is sometimes referred to as a cognitive or intellectual disability. 

Migraine Headaches:

Periodic headaches usually on one side of the head that may be accompanied by nausea, vomiting, increased sensitivity of the eyes to light and other symptoms.

Mixed Connective Tissue Disease:

Syndrome characterized by a combination of scleroderma, systemic lupus erythematosis, polymyositis, or rheumatoid arthritis. Individuals with MCTD have symptoms of each of these disorders including painful or swollen joints, heart or lung problems, skin problems, kidney disease, and muscle weakness.

Motor Problem/Movement or Coordination Problems:

Problems with both fine motor tasks (generally considered to involve skills of the hands and ability to use small objects) and gross motor tasks (generally considered to include activities such as walking, running, postural control etc.).

Multiple Sclerosis:

A disorder of the brain and spinal cord (central nervous system)) caused by progressive damage to the outer covering of nerve cells (myelin); may result in decreased nerve functioning, fatigue, dizziness, or difficulty walking or using hands.

Myasthenia Gravis (muscle fatigue disease):

A disease in which muscles tire easily and become increasingly weak.

Narcolepsy:

A sleep disorder that causes a person to fall asleep uncontrollably during the day.

Neurofibromatosis:

Neurofibromatosis Type 1 (NF-1), also called von Recklinghausen's Disease, is a rare genetic disorder characterized by the development of multiple non-cancer (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color, including tan, brown, or white spots in unusual places like under the arms and groin.

Neuromuscular Disorder:

Conditions that involve the weakness or wasting of the body muscles. These problems may arise in the spinal cord, the peripheral nerves or the muscle fibers; Examples include: Muscular dystrophy and Myasthenia Gravis.

Obesity:

Excess fat; a body weight that is 30% over the ideal body weight for your height.

Obsessive Compulsive Disorder:

A psychiatric disorder in which a person gets caught up in certain rituals, either thoughts or ways of doing things, which interfere with normal social interaction with others and cannot be suppressed. Examples include constant worrying about germs or contamination or concern with the exact order of things.

Optic Neuritis (optic nerve inflammation):

Swelling or inflammation of the optic nerve (located in the eye).

Pemphigus:

This is an uncommon blistering disease occurring on skin and mucous membranes commonly involving the mouth and scalp.

Personality Disorder:

General term for a group of behavioral diseases characterized by usually lifelong ingrained maladaptive patterns of strange internal experiences and abnormal behavior, lifestyle, and social adjustment.

Pervasive Developmental Disorder:

A group of mental disorders of infancy, childhood, or adolescence characterized by lack of the basic social skills, language skills, imagination, and need for routine.

Pervasive Developmental Disorder-Not Otherwise Specified:

See Autism Spectrum Disorders.

Reading Difficulty:

Difficulty reading at the level appropriate for a given age.

Recklinghausen’s Disease:

See Neurofibromatosis.

Reiter’s Syndrome (reactive arthritis):

Arthritis of large weight-bearing joints such as the knee and ankle with involvement of the urethra, eye, and skin; more commonly found among men.

Respiratory Condition:

Condition related to the lungs, esophagus, or flow of air through the respiratory passageway that may cause difficulty breathing.

Rett’s Syndrome:

A developmental disorder primarily affecting girls after an apparently normal early development. The syndrome is characterized by a slowing of the rate of head growth, severely impaired language and social skills, loss of purposeful hand movements, and a shaky torso.

Rheumatoid Arthritis:

A relatively common disease where the tissues lining the joints become inflamed. Over time, the inflammation may destroy the joint tissues, leading to disability.

Schizophrenia:

A chronic mental illness that can cause you to withdraw from the people and activities in the world around you and retreat into a world of delusions and hallucinations.

Scleroderma:

Disease that can cause thickening, hardening, or tightening of the skin, blood vessels and internal organs; chronic (life-long). TYPES: localized and general.

Self-Injuring Behavior:

Deliberate attempt to cause bodily harm to oneself. Examples include: biting the wrist, banging the head, cutting through skin.

Seizure Disorder/Epilepsy:

Disorders of the central nervous system that are characterized by sudden seizures, muscle contractions, and partial or total loss of consciousness.

Sickle Cell/Thalassemia/Other Hereditary Anemias:

Inherited, life-long disease in which the red blood cells, which are normally disc-shaped, become crescent shaped and do not function normally. Blood clotting occurs frequently. Thallasemias are hereditary disorders characterized by defective production of hemoglobin(protein inside blood cell that carries oxygen) which leads to low production, and excessive destruction, of red blood cells. This hereditary disorder is characterized by growth failure, bone deformities, and enlarged liver and spleen. Other hereditary anemias may include G-6-PD.

Sjögren’s Syndrome:

An inflammatory disorder affecting whole body that is characterized by dry mouth, decreased tearing, and other dry mucous membranes and often associated with autoimmune rheumatic disorders.

Sleep Disorder:

Disorder characterized by difficulty beginning or continuing to sleep for at least one month; associated with daytime fatigue (tired feeling); results in distress or impairment in social, occupational, or other important areas of functioning.

Speech Problems:

Problems talking to communicate with others. Difficulty expressing an understanding of written or spoken language.

Stevens-Johnson Syndrome:

Skin disorder, of unknown cause, resulting from an allergic reaction to medications, illness, or infections. The disorder is characterized by a rash, skin peeling, or sores on the mucous membranes.

Sydenham’s Chorea (St. Vitus’ Dance):

Disorder of the central nervous system characterized by emotional instability, purposeless movements, and muscular weakness.

Suicide Attempt:

The act of taking one’s own life, or attempting to take one’s own life.

Thrombocytopenia, (immune, idiopathic)

A condition in which there is an abnormally small number of platelets in the circulating blood.

Tourette’s Syndrome:

Neurological disorder characterized by tics - involuntary, rapid, sudden movements that occur repeatedly in the same way.

Tuberous Sclerosis:

Rare genetic, neurological disorder; characterized by seizures, mental retardation, and skin and eye lesions. Small tumors may grow on the face and eyes, in the brain, kidneys, and other organs. Seizures most often begin in the first year of life.

Ulcerative Colitis:

A chronic (life-long), episodic, inflammatory disease of the large intestine and rectum characterized by bloody diarrhea.

Vision Impairment:

Vision impairment means that a person's eyesight cannot be corrected to a "normal" level. Vision impairment may be caused by a loss of visual acuity, where the eye does not see objects as clearly as usual.  It may also be caused by a loss of visual field, where the eye cannot see as wide an area as usual without moving the eyes or turning the head.





Appendix E6


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