Autism Glossary of Medical Terms

Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Absorption: Uptake. In the biomedical sciences, absorption has diverse specific meanings.
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Acquired: Anything that is not present at birth but develops some time later. In medicine, the word "acquired" implies "new" or "added." An acquired condition is "new" in the sense that it is not genetic (inherited) and "added" in the sense that was not present at birth.
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ADHD: Attention deficit hyperactivity disorder .
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American Psychiatric Association: A medical specialty society with over 35,000 US and international member physicians who "work together to ensure humane care and effective treatment for all persons with mental disorder, including mental retardation and substance-related disorders. It is the voice and conscience of modern psychiatry. Its vision is a society that has available, accessible quality psychiatric diagnosis and treatment." The American Psychiatric Association (APA) is the oldest national medical specialty society in the US.
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Amitriptyline: An antidepressant medication. In some patients with depression , abnormal levels of brain chemicals called neurotransmitters may relate to the depression. Amitriptyline elevates mood by raising the level of neurotransmitters in brain tissue. Amitriptyline is also a sedative that is useful for depressed patients with insomnia, restlessness, and nervousness. It is sometimes used to treat fibromyalgia and symptoms related to chronic pain . Brand names are Elavil and Endep. A generic version is available.
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Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.
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Antidepressants : Anything, and especially a drug, used to prevent or treat depression .
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Antipsychotic: A medication (or another measure) that is believed to be effective in the treatment of psychosis . For example, aripiprazole (Abilify) is an antipsychotic medication used to treat schizophrenia .
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Anxiety: A feeling of apprehension and fear characterized by physical symptoms such as palpitations , sweating, and feelings of stress . Anxiety disorders are serious medical illnesses that affect approximately 19 million American adults. These disorders fill people's lives with overwhelming anxiety and fear. Unlike the relatively mild, brief anxiety caused by a stressful event such as a business presentation or a first date, anxiety disorders are chronic, relentless, and can grow progressively worse if not treated.
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Asperger syndrome: An autistic disorder most notable for the often great discrepancy between the intellectual and social abilities of those who have it.
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Atypical: Not typical, not usual, not normal, abnormal. Atypical is often used to refer to the appearance of precancerous or cancerous cells.
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Audiology: The study of hearing.
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Autism : A spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior. Some, but not all, people with autism are non-verbal.
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Bacterial: Of or pertaining to bacteria . For example, a bacterial lung infection .
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Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Centers for Disease Control and Prevention: The US agency charged with tracking and investigating public health trends. The stated mission of the Centers for Disease Control and Prevention, commonly called the CDC, is "To promote health and quality of life by preventing and controlling disease, injury, and disability."
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Cerebral: Pertaining to the brain, the cerebrum or the intellect.
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Child health: Child health is the purview of pediatrics.
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Cod liver oil: An oil extracted from the liver of the cod. Cod liver oil was once given religiously to children every day as a rich source of vitamins A and D. It was also used to treat children with rickets, a bone disease due to vitamin D deficiency.
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Cognitive: Pertaining to cognition , the process of knowing and, more precisely, the process of being aware, knowing, thinking, learning and judging. The study of cognition touches on the fields of psychology , linguistics, computer science, neuroscience , mathematics, ethology and philosophy.
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Concordance: 1. The presence of any given condition such as HIV in both members of a couple.
2. In genetics, the presence of a phenotype such as asthma in both members of a twin pair.
3. In clinical care, agreement between physician and patient.
In all sense, concordance is as opposed to discordance. From the Latin concordare, to agree.
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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. (For more examples, see below.)
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Congenital rubella syndrome: The constellation of abnormalities caused by infection with the rubella (German measles) virus before birth. The syndrome is characterized by multiple congenital malformations (birth defects) and mental retardation.
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Crown: 1. In dentistry, the portion of the tooth that is covered by enamel. 2. Also in dentistry, a type of restoration that covers all or most of the natural tooth. 3. In anatomy , the top of the head, as in the crown-rump length of a fetus . 4. In obstetrics , when a generous portion of the fetal scalp (the crown) become visible at the vaginal opening during labor . Soon after the baby crowns, delivery usually occurs.
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Cure: 1. To heal, to make well, to restore to good health. Cures are easy to claim and, all too often, difficult to confirm.
2. A time without recurrence of a disease so that the risk of recurrence is small, as in the 5-year cure rate for malignant melanoma .
3. Particularly in the past, a course of treatment. For example, take a cure at a spa.
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Deafness: Deafness is defined by partial or complete hearing loss. Levels of hearing impairment vary from a mild but important loss of sensitivity to a total loss of hearing. Older adults suffer most often from hearing loss. Age-related hearing loss affects 30 to 35 percent of the population between the ages of 65 and 75 years, and 40 percent of the population over the age of 75. The most common cause of hearing loss in children is otitis media, a disorder that affects predominantly infants and young children. A substantial number of hearing impairments are caused by environmental factors such as noise, drugs, and toxins. Many sensorineural hearing losses result from a genetic predisposition.
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Depression : An illness that involves the body, mood, and thoughts, that affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. A depressive disorder is not the same as a passing blue mood. It is not a sign of personal weakness or a condition that can be wished away. People with a depressive disease cannot merely "pull themselves together" and get better. Without treatment, symptoms can last for weeks, months, or years. Appropriate treatment, however, can help most people with depression.
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Developmental delay: Behind schedule in reaching milestones of early childhood development.
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Developmental disorder: One of several disorders that interrupt normal development in childhood. They may affect a single area of development (specific developmental disorders) or several (pervasive developmental disorders). With early intervention, most specific developmental disorders can be accommodated and overcome. Early intervention is absolutely essential for pervasive developmental disorders, many of which will respond to an aggressive approach that may combine speech therapy, occupational therapy, physical therapy, behavior modification techniques, play therapy, and in some cases medication.
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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.
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Echolalia: The involuntary parrotlike repetition (echoing) of a word or phrase just spoken by another person. Echolalia is a feature of schizophrenia (especially the catatonic form), Tourette syndrome , and some other disorders. From echo + the Greek lalia, a form of speech.
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EEG: Electroencephalogram, e technique for studying the electrical current within the brain. Electrodes are attached to the scalp. Wires attach these electrodes to a machine which records the electrical impulses. The results are either printed out or displayed on a computer screen. Electroencephalogram is abbreviated EEG.
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Elavil: See: Amitriptyline .
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Encephalopathy: Disease, damage, or malfunction of the brain. In general, encephalopathy is manifested by an altered mental state that is sometimes accompanied by physical changes. Although numerous causes of encephalopathy are known, the majority of cases arise from infection, liver damage, anoxia, or kidney failure . The term encephalopathy is very broad and, in most cases, is preceded by various terms that describe the reason, cause, or special conditions of the patient that leads to brain malfunction. For example, anoxic encephalopathy means brain damage due to lack of oxygen, and hepatic encephalopathy means brain malfunction due to liver disease. Depending upon the cause and severity of the condition, symptoms may range from mild alterations in mental status to severe and potentially fatal manifestations such as dementia , seizures , and coma .
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Essential: 1. Something that cannot be done without.
2. Required in the diet, because the body cannot make it. As in an essential amino acid or an essential fatty acid.
3. Idiopathic. As in essential hypertension. "Essential" is a hallowed term meaning "We don't know the cause."
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Family history: The family structure and relationships within the family, including information about diseases in family members.
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Fragile X syndrome: One of the most common causes of inherited mental retardation and neuropsychiatric disease in human beings, affects as many as one in 2000 males and one in 4000 females. The syndrome is also known as FRAXA (the fragile X chromosome itself) and as the Martin-Bell syndrome. However, the preferred name is fragile X syndrome.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
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Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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Gluten: A protein found in wheat or related grains and many foods that we eat. Gluten can be found in a large variety of foods including soups, salad dressings, processed foods and natural flavorings. Unidentified starch, binders and fillers in medications or vitamins can be unsuspected sources of gluten.
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Hyperactivity: A higher than normal level of activity. An organ can be described as hyperactive if it is more active than usual. Behavior can also be hyperactive.
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Impulsivity: Inclined to act on impulse rather than thought. People who are overly impulsive, seem unable to curb their immediate reactions or think before they act. As a result, they may blurt out answers to questions or inappropriate comments, or run into the street without looking. Their impulsivity may make it hard for a child to wait for things they want or to take their turn in games. They may grab a toy from another child or hit when they are upset.
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Indicate: In medicine, to make a treatment or procedure advisable because of a particular condition or circumstance. For example, certain medications are indicated for the treatment of hypertension during pregnancy while others are contraindicated .
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Infant: A child up to 2 years (24 months) of age.
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Informatics: The application of computers and statistics to the management of information. For example, in the Human Genome Project, informatics has permitted the development and use of methods to search databases quickly, analyze DNA sequence information, and predict protein sequence and structure from DNA sequence data.
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Intervention: The act of intervening, interfering or interceding with the intent of modifying the outcome. In medicine, an intervention is usually undertaken to help treat or cure a condition. For example, early intervention may help children with autism to speak. "Acupuncture as a therapeutic intervention is widely practiced in the United States," according to the National Institutes of Health. From the Latin intervenire, to come between.
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Lab test: A test that is done in the laboratory where the appropriate equipment, supplies, and certified expertise are available.
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Labile : Unstable, unsteady, not fixed.
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Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.

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Macrocephaly: An abnormally large head. The opposite of macrocephaly is microcephaly (an abnormally small head).
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Magnesium: A mineral involved in many processes in the body including nerve signaling, the building of healthy bones, and normal muscle contraction . About 350 enzymes are known to depend on magnesium.
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Meningitis: Inflammation of the meninges, usually due to a bacterial infection but sometimes from viral, protozoan, or other causes (in some cases the cause cannot be determined).
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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.
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Metabolic: Relating to metabolism, the whole range of biochemical processes that occur within us (or any living organism). Metabolism consists of anabolism (the buildup of substances) and catabolism (the breakdown of substances).
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Microcephaly: An abnormally small head due to failure of brain growth. In precise terms, microcephaly is a head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestation . (Some authorities define microcephaly as more than 3 standard deviations below the mean.)
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Motor: In medicine, having to do with the movement of a part of the body. Something that produces motion or refers to motion. For example, a motor neuron is a nerve cell that conveys an impulse to a muscle causing it to contract. The term "motor" today is also applied to a nerve that signals a gland to secrete. Motor is as opposed to sensory.
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MRI: Abbreviation and nickname for magnetic resonance imaging . For more information, see: Magnetic Resonance Imaging ; Paul C. Lauterbur ; Peter Mansfield .
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Music therapy: The use of music in therapy; the therapeutic use of music. There are many different definitions of music therapy ranging from the trivial (a form of distraction that uses music as an aid to relaxation) to the lofty (the prescribed use of music to restore, maintain, and improve emotional, physical, physiological, and spiritual health and well-being).
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Neurologist: A doctor who specializes in the diagnosis and treatment of disorders of the nervous system.
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Neurotoxic: Poisonous to nerves or nerve tissue. Mercury and lead are neurotoxic.
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NICHD: The National Institute of Child Health and Human Development, one of the US National Institutes of Health . NICHD is in a sense the NIH for kids in that it is concerned with child health .
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Nutrition : 1) The science or practice of taking in and utilizing foods. 2) A nourishing substance, such as nutritional solutions delivered to hospitalized patients via an IV or IG tube.
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Obsessive-compulsive disorder: A psychiatric disorder characterized by obsessive thoughts and compulsive actions, such as cleaning, checking, counting, or hoarding. Obsessive-compulsive disorder (OCD), one of the anxiety disorders, is a potentially disabling condition that can persist throughout a person's life. The individual who suffers from OCD becomes trapped in a pattern of repetitive thoughts and behaviors that are senseless and distressing but extremely difficult to overcome. OCD occurs in a spectrum from mild to severe, but if severe and left untreated, can destroy a person's capacity to function at work, at school, or even in the home.
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Onset: In medicine, the first appearance of the signs or symptoms of an illness as, for example, the onset of rheumatoid arthritis . There is always an onset to a disease but never to the return to good health. The default setting is good health.
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PA-C: Physician Assistant - Certified.
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Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia . Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
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Pediatrics: "Pediatrics is concerned with the health of infants, children and adolescents, their growth and development, and their opportunity to achieve full potential as adults." (Richard E.Behrman in Nelson's Textbook of Pediatrics)
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Pharmacy: A location where prescription drugs are sold. A pharmacy is, by law, constantly supervised by a licensed pharmacist.
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Phenylketonuria : The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.
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PKU: Short for phenylketonuria. See: Phenylketonuria .
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Posture: The carriage of the body as a whole, the attitude of the body, or the position of the limbs (the arms and legs).
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Proteins: Large molecules composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Psychiatric: Pertaining to or within the purview of psychiatry , the medical specialty concerned with the prevention, diagnosis , and treatment of mental illness.
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Psychiatrist: A physician (an M.D.) who specializes in the prevention , diagnosis, and treatment of mental illness . Psychiatrists must receive additional training and serve a supervised residency in their specialty. They may also have additional training in a psychiatric specialty, such as child psychiatry or neuropsychiatry. They can prescribe medication, which psychologists cannot do.
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Psychiatry: The medical specialty concerned with the prevention, diagnosis , and treatment of mental illness.
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Quality of life: An important consideration in medical care, quality of life refers to the patient's ability to enjoy normal life activities. Some medical treatments can seriously impair quality of life without providing appreciable benefit, while others greatly enhance quality of life.
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Quotient: The result of mathematical division. The I.Q. (Intelligence Quotient) is arrived at by dividing the person's mental age (as determined on the Binet test) by the person's chronologic age and multiplying by 100. So if a child scores at the 8-year old level but is only 6, the I.Q. is 8/6 X 100=125.
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Referral: The recommendation of a medical or paramedical professional. If you get a referral to ophthalmology, for example, you are being sent to the eye doctor. In HMOs and other managed care schemes, a referral is usually necessary to see any practitioner or specialist other than your primary care physician (PCP), if you want the service to be covered. The referral is obtained from your PCP, who may require a telephone or office consultation first.
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Rehabilitation: The process of restoration of skills by a person who has had an illness or injury so as to regain maximum self-sufficiency and function in a normal or as near normal manner as possible. For example, rehabilitation after a stroke may help the patient walk again and speak clearly again.
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Rett syndrome: An X-linked dominant neurological disorder that affects girls only and is one of the most common causes of mental retardation in females. Girls with the syndrome show normal development during the first 6-18 months of life followed first by a period of stagnation and then by rapid regression in motor and language skills. The hallmark of Rett syndrome is the loss of purposeful hand use and its replacement with stereotyped hand-wringing. Screaming fits and inconsolable crying are common.
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Reuptake: The reabsorption of a secreted substance by the cell that originally produced and secreted it. The process of reuptake, for example, affects serotonin.
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Rubella syndrome: The constellation of abnormalities caused by infection with the rubella (German measles) virus before birth. The syndrome is characterized by multiple congenital malformations (birth defects) and mental retardation.
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Rule out: A term much used in medicine, meaning to eliminate or exclude something from consideration. The ACB (albumin cobalt binding) test helps rule out a heart attack in the differential diagnosis of severe chest pain.
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Sclerosis: Localized hardening of skin.
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Sensory: Relating to sensation , to the perception of a stimulus and the voyage made by incoming ( afferent ) nerve impulses from the sense organs to the nerve centers.
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Sensory integration: A form of occupational therapy in which special exercises are used to strengthen the patient's sense of touch (tactile), sense of balance (vestibular), and sense of where the body and its parts are in space (proprioceptive). It appears to be effective for helping patients with movement disorders or severe under- or over-sensitivity to sensory input.
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Serotonin: A hormone , also called 5-hydroxytryptamine , in the pineal gland , blood platelets, the digestive tract, and the brain. Serotonin acts both as a chemical messenger that transmits nerve signals between nerve cells and that causes blood vessels to narrow.
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Stress: Forces from the outside world impinging on the individual. Stress is a normal part of life that can help us learn and grow. Conversely, stress can cause us significant problems.
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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.
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Therapy: The treatment of disease .
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Tired: A feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue.
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Toddler: A young child who is learning to walk with short unsteady steps. The word toddle is of unknown origin.
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Trauma: Any injury , whether physically or emotionally inflicted. "Trauma" has both a medical and a psychiatric definition. Medically, "trauma" refers to a serious or critical bodily injury, wound, or shock . This definition is often associated with trauma medicine practiced in emergency rooms and represents a popular view of the term. In psychiatry , "trauma" has assumed a different meaning and refers to an experience that is emotionally painful, distressful, or shocking, which often results in lasting mental and physical effects.
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Tuberous sclerosis: A genetic disorder characterized by abnormalities of the skin, brain, kidney, and heart. The skin abnormalities are present in all cases and may include tiny benign tumors (angiofibroma) on the face and depigmented areas anywhere on the body. The brain abnormalities are mainly benign cortical tumors ( tubers ) which cause seizures, developmental delay , and mental retardation . The kidneys often contain multiple cysts and benign tumors (angiomyolipomas). The heart problems include arrhythmias and benign heart muscle tumors (rhabdomyomas).
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Vaccines: Microbial preparations of killed or modified microorganisms that can stimulate an immune response in the body to prevent future infection with similar microorganisms. These preparations are usually delivered by injection.
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Vitamin C: An essential nutrient found mainly in fruits and vegetables. The body requires vitamin C to form and maintain bones, blood vessels, and skin.
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Vitamins: The word "vitamin" was coined in 1911 by the Warsaw-born biochemist Casimir Funk (1884-1967). At the Lister Institute in London, Funk isolated a substance that prevented nerve inflammation (neuritis) in chickens raised on a diet deficient in that substance. He named the substance "vitamine" because he believed it was necessary to life and it was a chemical amine. The "e" at the end was later removed when it was recognized that vitamins need not be amines.
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X-ray: 1. High-energy radiation with waves shorter than those of visible light. X-rays possess the properties of penetrating most substances (to varying extents), of acting on a photographic film or plate (permitting radiography), and of causing a fluorescent screen to give off light (permitting fluoroscopy). In low doses X-rays are used for making images that help to diagnose disease, and in high doses to treat cancer . Formerly called a Roentgen ray. 2. An image obtained by means of X-rays.
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