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Tuberous Sclerosis Learning Center
Tests could include:
- History and Physica...
- MRI
- Computed Tomography...
- Neurological Examin...
- Developmental Asses...
- Skin Examination
- Cardiac Echo
- Prenatal Ultrasound...
- Ultrasound Scan
- Ophthalmoscopy
- Electroencephalogra...
- Electrocardiogram (...
- Comprehensive Eye E...
- MRI of Brain
- CT of Brain
- Skin Lesion Biopsy
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Ultrasound of Kidney
- Urinalysis
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Abnormal heart rhythm (arrhythmia) Calcium deposits in the brain; Non-cancerous "tubers" in the brain; Rubbery growths on the tongue or gums; Tumor-like growth (hamartoma) on the retina, pale patches in the eye;
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When a person exhibits signs of TSC or has a family history of the condition, an evaluation by a medical geneticist, neurologist or other qualified professional is recommended to confirm (or rule out) the diagnosis and to recommend screening and m...
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Up until the discovery of TSC1 and TSC2, the diagnosis of TS was made on a clinical basis. Criteria for clinical diagnosis were updated in 1998 at the Tuberous Sclerosis Complex Consensus Conference.
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When a person exhibits signs of TSC or has a family history of the condition, an evaluation by a medical geneticist, neurologist, or other qualified professional is recommended to confirm (or rule out) the diagnosis and to recommend screening and ...
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Tuberous sclerosis is diagnosed when the characteristic tumors are noted in the skin, heart, brain, or kidneys. Many patients come to the healthcare provider's attention after they have begun to have seizures. Further examination with CT and/or MR...
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During a physical examination, a health care provider studies a patient's body to determine the presence or absence of physical problems. A typical physical examination includes: Inspection (looking at the body; Palpation (feeling the body with ha...
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The health status of populations and of individuals is assessed for many reasons. Assessing needs for care helps guide the allocation of resources— diagnostic assessments guide treatment, prognostic assessments contribute to planning, and assessin...
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Magnetic resonance imaging (MRI) is a noninvasive way to take pictures of the body. Unlike x-rays and computed tomographic (CT) scans, which use radiation, MRI uses powerful magnets and radio waves. The MRI scanner contains the magnet. The magneti...
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Magnetic resonance imaging (MRI) is one of the newest, and perhaps most versatile, medical imaging technology available. Doctors can get highly refined images of the body's interior without surgery using MRI. By using strong magnets and pulses of ...
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Magnetic resonance imaging (MRI) is a diagnostic imaging procedure that uses radio waves, a magnetic field, and a computer to generate images of the anatomy.
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Magnetic resonance imaging (MRI) is the newest, and perhaps most versatile, medical imaging technology available. Doctors can get highly refined images of the body's interior without surgery, using MRI. By using strong magnets and pulses of radio ...
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Magnetic resonance imaging (MRI) is one of the newest diagnostic medical imaging technologies that uses strong magnets and pulses of radio waves to manipulate the natural magnetic properties in the body to generate a visible image. In the field of...
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Magnetic resonance imaging (MRI) scanners rely on the principles of atomic nuclear-spin resonance. Using strong magnetic fields and radio waves, MRI collects and correlates deflections caused by atoms into images. MRIs (magnetic resonance imaging ...
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Magnetic resonance imaging (MRI) is a unique and versatile medical imaging modality. Doctors can obtain highly refined images of the body's interior using MRI. By using strong magnetic fields and pulses of radio waves to manipulate the natural mag...
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MRI produces a map of hydrogen atoms distributed in the body. Hydrogen is the simplest element known, the most abundant in biological tissue, and one that can be magnetically polarized. It will align itself within a strong magnetic field, like the...
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A computed tomography (CT) scan is an imaging method that uses x-rays to create cross-sectional pictures of the body. See also: Cranial CT scan; Lumbosacral spine CT scan; Orbit CT scan; Thoracic CT scan.
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Computed tomography (CT) scanning is a valuable diagnostic tool that provides physicians with views of internal body structures. During a CT scan, multiple x rays are passed through the body, producing cross-sectional images, or "slices, " on a ca...
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Computed tomography (CT), formerly referred to as computerized axial tomography (CAT), is a common diagnostic imaging procedure that uses x rays to generate images (slices) of the anatomy.
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Computed tomography (CT) scans are completed with the use of a 360-degree x-ray beam and computer production of images. These scans allow for cross-sectional views of body organs and tissues.
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Computed tomography scanning, also called CT scan, CAT scan, or computerized axial tomography, is a diagnostic tool that provides views of internal body structures using x rays. In the field of mental health, a CT scan may be used when a patient s...
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Computed tomography (also known as CT, CT scan, CAT, or computerized axial tomography) scans use x rays to produce precise cross-sectional images of anatomical structures.
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A neurological examination is an essential component of a comprehensive physical examination . It is a systematic examination that surveys the functioning of nerves delivering sensory information to the brain and caring motor commands (Peripheral ...
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Developmental assessment involves the measure of a child's attainment of physical or cognitive skills that allow continued maturation, learning, and function in society.
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The developmental norm used to express a child's physical, behavioral, and language development. The developmental quotient is a norm used to express aspects of a child's development as measured by the Gesell Development Schedules. These tests wer...
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Assesses the development of motor skills. The Lincoln-Oseretsky Motor Development Scale is an individually administered test that assesses the development of motor skills in children and adults. Areas covered include fine and gross motor skills, f...
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Widely used intelligence test. The oldest and most influential intelligence test, devised in 1916 by Stanford psychologist Lewis Terman (1877-1956), using the 1908 Binet-Simon model. Although some of its concepts, such as mental age and intelligen...
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The Bayley Scales of Infant Development (BSID) measure the mental and motor development and test the behavior of infants from one to 42 months of age.
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The Stanford-Binet intelligence scale is a standardized test that assesses intelligence and cognitive abilities in children and adults aged two to 23.
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Developed by C. Keith Conners, Ph.D., the Conners' Rating Scales-Revised (CRS-R) are paper and pencil screening questionnaires designed to be completed by parents and teachers to assist in evaluating children for attention-deficit/hyperactivity di...
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The Wechsler Intelligence Scale for Children, often abbreviated as WISC, is an individually administered measure of intelligence intended for children aged six years to 16 years and 11 months.
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Skin self-exam means checking your own skin regularly for any abnormal growths or unusual changes. A skin self-exam helps find any suspicious skin problems early. The earlier skin cancer is diagnosed, the better chance you will have for a cure.
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An echocardiogram is a test that uses sound waves to create a moving picture of the heart. The picture is much more detailed than a plain x-ray image and involves no radiation exposure.
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Echocardiography is a diagnostic test that uses ultrasound waves to create an image of the heart muscle. Ultrasound waves that rebound or echo off the heart can show the size, shape, and movement of the heart's valves and chambers as well as the f...
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Echocardiography is a diagnostic test that uses ultrasound waves to produce an image of the heart muscle and the heart's valves.
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A pregnancy ultrasound is an imaging test that uses sound waves to see how a fetus is developing in the womb. It is also used to check the female pelvic organs during pregnancy.
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Prenatal ultrasound is a procedure performed during pregnancy to obtain images of the fetus.
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Antenatal testing describes procedures performed during pregnancy to detect health problems in the growing fetus; establish characteristics such as fetal age, sex, or weight; or diagnose any material conditions that may affect fetal development.
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Antenatal testing includes any diagnostic procedures performed before the birth of a baby.
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Pelvic ultrasound is a procedure in which high-frequency sound waves are used to create images of the pelvic organs by projecting the sound waves into the pelvis and measuring how the sound waves reflect, or echo, back from the different tissues.
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An ultrasound unit is a noninvasive medical device used to produce images of body tissues and organs from differential reflections of ultrasonic sound waves. The technique of diagnostic imaging performed by ultrasound units is called ultrasonograp...
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Pelvic ultrasound is a procedure in which high-frequency sound waves create images of the pelvic organs. The sound waves are projected into the pelvis, and measure how they reflect—or echo—back from the different tissues.
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Ultrasound involves the use of high-frequency sound waves to create images of organs and systems within the body.
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Ultrasonography is a diagnostic technique that involves directing high frequency sound waves at tissues in the body to generate images of anatomical structures. Ultrasonography is also called sonography, diagnostic sonography, and echocardiography...
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A thyroid ultrasound, or sonogram, is a diagnostic imaging technique used to evaluate the structure of the thyroid gland . The thyroid is an endocrine gland, which means that it releases its secretions directly into the bloodstream or lymph. It co...
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The use of ultrasound to obtain diagnostic images is referred to as diagnostic sonography. Since diagnostic sonography utilizes a nonionizing form of energy, there are no known bioeffects. Thus, diagnostic sonography is applied to a large spectrum...
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Ultrasonography is the study of internal organs or blood vessels using high-frequency sound waves. The actual test is called an ultrasound scan or sonogram. Duplex ultrasonography uses Doppler technology to study blood cells moving through major v...
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Diagnostic medical sonography, or ultrasound, is a technique using high frequency sound to create images of specific areas of the body to diagnose various pathologies. The diagnostic medical sonographer performs examinations, records anatomic cond...
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Ophthalmoscopy is an examination of the back part of the eyeball (fundus), which includes the retina, optic disc, choroid, and blood vessels.
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An electroencephalogram (EEG) is a test to detect problems in the electrical activity of the brain.
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An electroencephalogram (EEG), also called a brain wave test, is a diagnostic test which measures the electrical activity of the brain (brain waves) using highly sensitive recording equipment attached to the scalp by fine electrodes.
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Electroencephalography, or EEG, is a neurological test that uses an electronic monitoring device to measure and record electrical activity in the brain.
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Electroencephalography (EEG) is a neurological diagnostic procedure that records the changes in electrical potentials ( brain waves) in various parts of the brain.
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Electroencephalography, or EEG, is a neurological test that involves attaching electrodes to the head of a person to measure and record electrical activity in the brain over time.
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Electroencephalography, or EEG, is a neurological test that involves attaching electrodes to the head of a patient to measure and record electrical activity in the brain over time.
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The electroencephalography (EEG) unit is used to record the electrical output of the brain to produce a record called an electroencephalogram.
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Electroencephalography, or EEG, is a neurological test that involves attaching electrodes to the head of a person to measure and record electrical activity in the brain over time.
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An electrocardiogram (ECG) is a test that records the electrical activity of the heart. See also: Holter monitoring; Stress test.
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Electrocardiography is a commonly used, noninvasive procedure for recording electrical changes in the heart. The record, which is called an electrocardiogram (ECG or EKG), shows the series of waves that relate to the electrical impulses that occur...
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The electrocardiography unit, also called an electrocardiograph, is an apparatus that indirectly measures the heart's electrical activity and records it as a graphic tracing.
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The electrocardiogram (ECG) displays important information about the heart, including the occurrence of a heart attack or lack of oxygen, whether conduction of the heartbeat is disturbed, or its rate or rhythm altered. It is useful as a rapid indi...
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A standard ophthalmic exam is a series of tests done to check your vision and the health of your eyes. See also: Refraction test
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An eye examination is a series of tests performed by an ophthalmologist or an optometrist to determine if there are any pre-existing or potential problems with a patient's vision .
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A magnetic resonance imaging (MRI) scan of the head is a noninvasive method to create detailed pictures of the brain and surrounding nerve tissues. Unlike x-rays and computed tomographic (CT) scans, which use radiation, MRI uses powerful magnets a...
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Like all other parts of the body, the brain and central nervous system are made up of cells that ordinarily grow and divide to create new cells as needed. This is usually an orderly process; but when cells lose their ability to grow normally or to...
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Part of the central nervous system located in the skull. Controls mental and physical actions of the organism. The brain, with the spinal cord and network of nerves, controls information flow throughout the body, voluntary actions, such as walking...
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Congenital brain defects are a group of disorders of brain development that are present at birth.
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Brain abscess is a bacterial infection within the brain.
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A brain biopsy is the removal of a small piece of brain tissue for the diagnosis of abnormalities of the brain, such as Alzheimer's disease , tumors, infection, or inflammation.
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A brain tumor is an abnormal growth of tissue in the brain. Unlike other tumors, brain tumors spread by local extension and rarely metastasize (spread) outside the brain. A benign brain tumor is composed of non-cancerous cells and does not metasta...
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Congenital brain defects are a group of disorders of brain development.
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The brain is the part of the central nervous system located in the skull. It controls the mental processes and physical actions of a human being.
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The brain is a large mass of soft nervous tissue made up of both neurons and supporting glial cells lying within the cranium of the skull. The brain contains both gray and white matter. Gray matter is primarily nerve cell bodies, whereas white mat...
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Traumatic brain injury (TBI) is the result of physical trauma to the head causing damage to the brain. This damage can be focal, or restricted to a single area of the brain, or diffuse, affecting more than one region of the brain. By definition, T...
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The brain is the part of the central nervous system (CNS) inside the skull (the part outside the skull is the spinal cord ). It gives rise to cognitive thought processes and controls various body functions including muscular activity, speech, sigh...
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A brain tumor is an abnormal growth of tissue, either malignant (cancerous) or benign (noncancerous), in the brain. Each year, more than 17,000 brain tumors are diagnosed in the United States.
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A cranial computed tomography (CT) scan is an imaging method that uses x-rays to create cross-sectional pictures of the head, including the skull, brain, eye sockets, and sinuses. See: Computed tomography
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A skin lesion biopsy is the removal of a piece of skin to diagnose or rule out an illness.
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A skin biopsy is a procedure in which a small piece of living skin is removed from the body for examination, usually under a microscope, to establish a precise diagnosis. Skin biopsies are usually brief, straightforward procedures performed by a s...
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Urinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds that pass through the urine.
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Urinalysis is a diagnostic physical, chemical, and microscopic examination of a urine sample (specimen). Specimens can be obtained by normal emptying of the bladder (voiding) or by a hospital procedure called catheterization.
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Urinalysis is an important test used in diagnosing diseases of the genitourinary tract. Urine is examined for pH and specific gravity by chemical and direct microscopic methods. The presence and concentration of various chemicals such as proteins,...
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Urine typically contains epithelial cells shed from the urinary tract. Urine cytology evaluates this urinary sediment for the presence of cancerous cells from the lining of the urinary tract, and it is a convenient noninvasive technique for follow...
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A urine dipstick is a colorimetric chemical assay that can be used to determine the pH, specific gravity, protein, glucose, ketone, bilirubin, urobilinogen, blood, leukocyte, and nitrite levels of an individual's urine. It consists of a reagent st...
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A urinalysis is a group of manual and/or automated qualitative and semi-quantitative tests performed on a urine sample. A routine urinalysis usually includes the following tests: color, transparency, specific gravity, pH, protein, glucose, ketones...
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The urine specimen collection is a procedure used to obtain a sample of urine from a patient for diagnostic tests.
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A urinalysis is a group of manual and/or automated qualitative and semi-quantitative tests performed on a urine sample. A routine urinalysis usually includes the following tests: color, transparency, specific gravity, pH, protein, glucose, ketones...
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