Anxiety Disease Information

Anxiety disorders range from feelings of uneasiness to immobilizing bouts of terror. This fact sheet briefly describes the different types of anxiety disorders. This fact sheet is not exhaustive, nor does it include the full range of symptoms and treatments. Keep in mind that new research can yield rapid and dramatic changes in our understanding of and approaches to mental disorders. If you believe you or a loved one has an anxiety disorder, seek competent, professional advice or another form of support.

Generalized Anxiety Disorder: Most people experience anxiety at some point in their lives and some nervousness in anticipation of a real situation. However if a person cannot shake unwarranted worries, or if the feelings are jarring to the point of avoiding everyday activities, he or she most likely has an anxiety disorder.
Symptoms: Chronic, exaggerated worry, tension, and irritability that appear to have no cause or are more intense than the situation warrants. Physical signs, such as restlessness, trouble falling or staying asleep, headaches, trembling, twitching, muscle tension, or sweating, often accompany these psychological symptoms.
Formal diagnosis: When someone spends at least six months worried excessively about everyday problems. However, incapacitating or troublesome symptoms warranting treatment may exist for shorter periods of time.
Treatment: Anxiety is among the most common, most treatable mental disorders. Effective treatments include cognitive behavioral therapy, relaxation techniques, and biofeedback to control muscle tension. Medication, most commonly anti-anxiety drugs, such as benzodiazepine and its derivatives, also may be required in some cases. Some commonly prescribed anti-anxiety medications are diazepam, alprazolam, and lorazepam. The non-benzodiazepine anti-anxiety medication buspirone can be helpful for some individuals.

Panic Disorder: People with panic disorder experience white-knuckled, heart-pounding terror that strikes suddenly and without warning. Since they cannot predict when a panic attack will seize them, many people live in persistent worry that another one could overcome them at any moment.
Symptoms: Pounding heart, chest pains, lightheadedness or dizziness, nausea, shortness of breath, shaking or trembling, choking, fear of dying, sweating, feelings of unreality, numbness or tingling, hot flashes or chills, and a feeling of going out of control or going crazy.
Formal Diagnosis: Either four attacks within four weeks or one or more attacks followed by at least a month of persistent fear of having another attack. A minimum of four of the symptoms listed above developed during at least one of the attacks. Most panic attacks last only a few minutes, but they occasionally go on for ten minutes, and, in rare cases, have been known to last for as long as an hour. They can occur at any time, even during sleep.
Treatment: Cognitive behavioral therapy and medications such as high-potency anti-anxiety drugs like alprazolam. Several classes of antidepressants (such as paroxetine, one of the newer selective serotonin reuptake inhibitors) and the older tricyclics and monoamine oxidase inhibitors (MAO inhibitors) are considered "gold standards" for treating panic disorder. Sometimes a combination of therapy and medication is the most effective approach to helping people manage their symptoms. Proper treatment helps 70 to 90 percent of people with panic disorder, usually within six to eight weeks.

Phobias: Most of us steer clear of certain, hazardous things. Phobias however, are irrational fears that lead people to altogether avoid specific things or situations that trigger intense anxiety. Phobias occur in several forms, for example, agoraphobia is the fear of being in any situation that might trigger a panic attack and from which escape might be difficult. Social phobia is a fear of being extremely embarrassed in front of other people. The most common social phobia is fear of public speaking.
Symptoms: Many of the physical symptoms that accompany panic attacks - such as sweating, racing heart, and trembling - also occur with phobias.
Formal Diagnosis: The person experiences extreme anxiety with exposure to the object or situation; recognizes that his or her fear is excessive or unreasonable; and finds that normal routines, social activities, or relationships are significantly impaired as a result of these fears.
Treatment: Cognitive behavioral therapy has the best track record for helping people overcome most phobic disorders. The goals of this therapy are to desensitize a person to feared situations or to teach a person how to recognize, relax, and cope with anxious thoughts and feelings. Medications, such as anti-anxiety agents or antidepressants, can also help relieve symptoms. Sometimes therapy and medication are combined to treat phobias.

Post-traumatic Stress Disorder: Researchers now know that anyone, even children, can develop PTSD if they have experienced, witnessed, or participated in a traumatic occurrence-especially if the event was life threatening. PTSD can result from terrifying experiences such as rape, kidnapping, natural disasters, or war or serious accidents such as airplane crashes. The psychological damage such incidents cause can interfere with a person's ability to hold a job or to develop intimate relationships with others.
Symptoms: The symptoms of PTSD can range from constantly reliving the event to a general emotional numbing. Persistent anxiety, exaggerated startle reactions, difficulty concentrating, nightmares, and insomnia are common. People with PTSD typically avoid situations that remind them of the traumatic event, because they provoke intense distress or even panic attacks.
Formal Diagnosis: Although the symptoms of PTSD may be an appropriate initial response to a traumatic event, they are considered part of a disorder when they persist beyond three months.
Treatment: Psychotherapy can help people who have PTSD regain a sense of control over their lives. They also may need cognitive behavior therapy to change painful and intrusive patterns of behavior and thought and to learn relaxation techniques. Support from family and friends can help speed recovery and healing. Medications, such as antidepressants and anti-anxiety agents to reduce anxiety, can ease the symptoms of depression and sleep problems. Treatment for PTSD often includes both psychotherapy and medication.

For more information, as well as referrals to specialists and self-help groups in your State, contact:
Anxiety Disorders Association of America
8730 Georgia Avenue - Suite 600
Silver Spring, MD 20910
Telephone: 240-485-1001
Fax: 240-485-1035
www.adaa.org

Mental Help Net
CenterSite, LLC
570 Metro Place
Dublin, OH 43017
http://mentalhelp.net/poc/center_index.php?id=1

National Mental Health Association
2001 Beauregard Street, 12th Floor
Alexandria, VA 22311
Telephone: 800-969-6642
Fax: 703-684-5968
(TDD): 800-433-5959
www.nmha.org/infoctr/factsheets/index.cfm

The National Institute of Mental Health's toll-free information line is
1-866-615-6464; their web address is

Anthrax Disease Information

Anthrax is the disease caused by the bacterium Bacillus anthracis, which lives in soil. The bacterial cell lives as a hardy spore to survive harsh conditions. The spores germinate into thriving colonies of bacteria once inside an animal or person. Anthrax usually affects livestock far more than humans, but—as we know from the 2001 anthrax attacks in the United States—anthrax is feared as a modern biological weapon.

Anthrax occurs in three forms:
Cutaneous (affecting the skin)
Inhalational (in the lungs)
Gastrointestinal (in the digestive tract)
Cutaneous Anthrax

Cutaneous anthrax is the most common form of the disease. People with cuts or open sores can get cutaneous anthrax if they come in direct contact with the bacteria or its spores, usually through contaminated animal products. The skin will redden and swell, much like an insect bite, and then develop a painless blackened lesion or ulcer that may form a brown or black scab, which is actually dead tissue. Cutaneous anthrax responds well to antibiotics but may spread throughout the body if untreated. People who work with certain animals or animal carcasses are at risk of getting this form of the disease. Cutaneous anthrax is rare in the United States. According to the Centers for Disease Control and Prevention (CDC), the United States sees only one to two cases per year.
Inhalational Anthrax

When a person inhales the spores of B. anthracis, they germinate and the bacteria infect the lungs, spreading to the lymph nodes in the chest. As the bacteria grow, they produce two kinds of deadly toxins.

Symptoms usually appear 1 to 7 days after exposure, but they may first appear more than a month later. Fever, nausea, vomiting, aches, and fatigue are among the early symptoms of inhalational anthrax; it progresses to labored breathing, shock, and often death.

Historically, the mortality rate for naturally occurring inhalational anthrax has been 75 percent, even with appropriate treatment. But inhalational anthrax is rare. In the 2001 anthrax attacks, 11 people were infected with inhalational anthrax and 6 survived. Prior to 2001, the last known U.S. case was in 1976, when a California craftsman died after getting the infection from imported yarn contaminated with anthrax spores.
Gastrointestinal Anthrax

People can get gastrointestinal anthrax from eating meat contaminated with anthrax bacteria or their spores. Symptoms are stomach pain, loss of appetite, diarrhea, and fever. Antibiotic treatment can cure this form of anthrax, but left untreated, it may kill half of those who get it.

Gastrointestinal anthrax occurs naturally in warm and tropical regions of Asia, Africa, and the Middle East. There have been no confirmed cases of gastrointestinal anthrax in the United States, although a Minnesota farm family may have experienced symptoms of the disease in 2000 after eating meat from a steer that had anthrax.

Bacillus anthracis is a bacterium that lives in soil and has developed a survival tactic that allows it to endure for decades under the harshest conditions. An anthrax bacterial cell can transform itself into a spore, a very hardy resting phase which can withstand extreme heat, cold, and drought, without nutrients or air. When environmental conditions are favorable, the spores will germinate into thriving colonies of bacteria. For example, a grazing animal may ingest spores that begin to grow, spread, and eventually kill the animal. The bacteria will form spores in the carcass and then return to the soil to infect other animals in the future.

While its spore form allows the bacteria to survive in any environment, the ability to produce toxins is what makes the bacteria such a potent killer. Together, the hardiness and toxicity of B. anthracis make it a formidable bioterror agent. Its toxin is made of three proteins: protective antigen, edema factor, and lethal factor.
Protective antigen binds to select cells of an infected person or animal and forms a channel that permits edema factor and lethal factor to enter those cells.
Edema factor, once inside the cell, causes fluid to accumulate at the site of infection. Edema factor can contribute to a fatal build-up of fluid in the cavity surrounding the lungs. It also can inhibit some of the body’s immune functions.
Lethal factor also works inside the cell, disrupting a key molecular switch that regulates the cell’s functions. Lethal factor can kill infected cells or prevent them from working properly.
Bioterror Connection

In the fall of 2001, lethal anthrax bacteria were spread deliberately through the U.S. mail. Twenty-two people became ill, and five died. The perpetrator has not been caught.

Even before this bioterror attack, public health officials were concerned about the potential for such an event. In 1999, the Centers for Disease Control and Prevention (CDC) created lists of high-priority biological agents that terrorists could use to harm civilians. An expert panel of doctors and scientists classified Bacillus anthracis as a Category A bioterror agent. The NIAID list of Category A organisms includes those that pose the greatest threats to national security due to their ease of transmission, high rate of death or serious illness, potential for causing public panic, and the special public health measures an epidemic would require.

Since the creation of the CDC lists, public health officials and researchers have worked to plan and prepare for a possible bioterror attack. Following the 2001 anthrax attacks, federal funding for these efforts increased significantly.

If diagnosed early, anthrax is easily treated with antibiotics. Unfortunately, infected people often confuse early symptoms with more common infections and do not seek medical help until severe symptoms appear. By that time, the destructive anthrax toxins have already risen to high levels, making treatment difficult. Antibiotics can kill the bacteria, but antibiotics have no effect on anthrax toxins.

In 1970, the Food and Drug Administration (FDA) approved an anthrax vaccine for humans, which is licensed for limited use. The vaccine is currently used to protect members of the military and individuals most at risk for occupational exposure to the bacteria, such as slaughterhouse workers, veterinarians, laboratory workers, and livestock handlers. The vaccine does not contain the whole bacterium. Rather, it is made mostly of the anthrax protective antigen protein, so people cannot get anthrax infection from the vaccine.

Health experts currently do not recommend the vaccine for general use by the public because anthrax illness is rare and the vaccine has potential adverse side effects in some individuals. Researchers have not determined the safety and efficacy of the vaccine in children, the elderly, and people with weakened immune systems. Although the vaccine trials indicate that three to four doses of anthrax vaccine can generate significant protective immunity, the recommended vaccination schedule is six doses given over an 18-month period.

To quickly protect the public in the event of a bioterror attack, scientists are seeking to develop a new vaccine.

The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, conducts and funds research to improve our ability to prevent, diagnose, and treat anthrax. Anthrax research was under way prior to the 2001 bioterror attack, but it has expanded significantly since then. New research findings are improving our understanding of how B. anthracis causes disease and how to better prevent and treat it.

Several biologic factors contribute to B. anthracis’ ability to cause disease. NIAID researchers and grantees are uncovering the molecular pathways that enable the bacterium to form spores, survive in people, and cause illness. Scientists envision this basic research to be the pathway to new vaccines, drugs, and diagnostic tools.
Natural history of anthrax

One goal of NIAID physician researchers is to look at the infectious disease process over time, from initial infection through the clinical course and beyond recovery. A small number of anthrax survivors from the 2001 attacks are enrolled in a long-term clinical study for this purpose. Many years of clinical observation are needed for this type of study to yield definitive results. Because the medical literature on anthrax does not include any findings regarding long-term complications in survivors, information gained in this study will be valuable to patients and healthcare workers.
Toxin biology

Scientists are studying anthrax toxins to learn how to block their production and action. Recently, NIAID-supported scientists have shown that protective antigen can bind edema factor and lethal factor at the same time, forming a greater variety of toxin complexes than were previously known. This finding could help researchers develop antitoxin therapies.

Previously, scientists discovered the three-dimensional molecular structure of the anthrax protective antigen protein bound to one of the receptors (CMG2) it uses to enter cells. Using a specific fragment of the CMG2 receptor protein, researchers have been able to block the attachment of protective antigen in test-tube experiments, thereby inhibiting all anthrax toxin activity.

NIAID-funded scientists also had synthesized a small cyclic molecule that blocks anthrax toxin in cell culture and in rodents. The molecule blocks the pore formed by anthrax protective antigen. Blocking the pore effectively prevents lethal factor and edema factor toxins from entering cells.

Scientists anticipate that these findings will lead to new and effective treatments.
Anthrax bacterium genome

Genes are the instructions for making proteins, which in turn build components of the cell or carry out its biochemical processes. The instructions that dictate how a microbe works are encoded within its genes. Bacteria keep most of their genes in a chromosome, a very long stretch of DNA. Smaller circular pieces of DNA called plasmids also carry genes that bacteria may exchange with each other. Because plasmids often contain genes for toxins and antibiotic resistance, knowing the DNA sequence of such plasmids is important.

Scientists have sequenced plasmids carrying the toxin genes of B. anthracis. In addition, researchers have sequenced the complete chromosomal DNA sequence of several B. anthracis strains, including one that killed a Florida man in the 2001 anthrax bioterror attack.

By comparing the DNA blueprints of different B. anthracis strains, researchers are learning why some strains are more virulent than others. Small variations among the DNA sequences of different strains may also help investigators pinpoint the origin of an anthrax outbreak.

Knowing the genetic fingerprint of B. anthracis might lead to gene-based detection mechanisms that can alert scientists to the bacteria in the environment or allow rapid diagnosis of anthrax in infected people. Variations between strains might also point to differences in antibiotic susceptibility, permitting doctors to immediately determine the appropriate treatment.

Scientists are now analyzing the B. anthracis genome sequence to determine the function of each of its genes and to learn how those genes interact with each other or with host-cell components to cause disease. Knowing the sequence of B. anthracis genes will help scientists discover key bacterial proteins that can then be targeted by new drugs or vaccines.
Spore biology

B. anthracis spores are essentially dormant and must “wake up,” or germinate, to become reproductive, disease-causing bacteria. Researchers are studying the germination process to learn more about the signals that cause spores to become active once inside an animal or person. Efforts are under way to develop models of spore germination in laboratory animals. Scientists hope those models will enable discoveries leading to drugs that block the germination process in B. anthracis spores.
Host immunity

People who contract anthrax produce antibodies to protective antigen protein. Similar antibodies appear to block infection in animals. Recent studies also suggest that some animals can produce antibodies to components of B. anthracis spores. Those antibodies, when studied in a test tube, prevent spores from germinating and increase their uptake by the immune system’s microbe-eating cells. These discoveries suggest that scientists might be able to develop a vaccine to fight both B. anthracis cells and spores.

Researchers also are studying how the immune system responds to B. anthracis infection. Part of the immune system response, known as adaptive immunity, consists of B and T cells that specifically recognize components of the anthrax bacterium. The other type of immune response—innate immunity—aims more generally to combat a wide range of microbial invaders and likely plays a key role in the body’s front-line defenses. Scientists are conducting studies of how those two arms of the immune system act to counter infection, including how B. anthracis spore germination affects individual immune responses.

In another study, NIAID-supported scientists have discovered a potential target for developing new measures to prevent and treat anthrax toxicity. Their study shows that a human gene called LRP6 plays a role in the delivery of anthrax toxins into cells. Antibodies directed against LRP6 protected cell cultures from anthrax lethal toxin. These results suggest that targeting LRP6 may prove useful in developing ways to protect against the effects of accumulated toxin.
Vaccine

NIAID is supporting research on next-generation anthrax vaccines designed to prevent infection using fewer doses than the currently licensed vaccine. The new vaccines, called recombinant protective antigen, or rPA vaccines, are based on the gene for just one anthrax toxin. These vaccines have been tested in rabbits and monkeys and have completed two phases of clinical trials in humans. The rPA vaccines appear to produce an effective immune response in people with intact immune systems. In general, the goal is to make rPA vaccines that are safer, more reliable, can be produced in large quantities, and may also be given to people with compromised immune systems.
Diagnostics

Research is under way to develop improved techniques for spotting B. anthracis in the environment and diagnosing it in infected individuals. As mentioned previously, a key part of that research is the functional genomic analysis of the bacterium, which should lead to new genetic markers for sensitive and rapid identification. Genomic analysis will also reveal differences in individual B. anthracis strains that may affect how those bacteria cause disease or respond to treatment.
Therapies

Following the discoveries of how the protective antigen and lethal factor proteins interact with cells, researchers are screening thousands of small molecules in hopes of finding an anti-anthrax drug. In addition, NIAID is working with FDA, CDC, and the Department of Defense to accelerate testing of collections of compounds for their effectiveness against inhalational anthrax. Many of those compounds already have been approved by FDA for other conditions and therefore could quickly be approved for use in treating anthrax, should they prove effective.

NIAID is also seeking new drugs that attack B. anthracis at different levels. These include agents that prevent the bacterium from attaching to cells, compounds that inhibit spore germination, and inhibitors that block the activity of key enzymes such as anthrax lethal factor. NIAID also will develop the capacity to synthesize promising anti-anthrax compounds in sufficient purity and quantity for preclinical testing.

NIAID-supported scientists have solved the structure of enzymes called sortases, which are known to anchor bacterial surface proteins to the cell walls. These enzymes may be essential to bacterial survival, and therefore could be an attractive potential target for therapies.

Scientists have designed a compound that blocks anthrax toxins from attaching to receptors on the surface of host cells in animal models. If the toxin cannot attach to and enter the cell, it is effectively neutralized. The new inhibitor is much more potent than current therapies and shows promise against some antibiotic-resistant strains as well. The general concept could also be applied to designing inhibitors for other pathogens.

Researchers have also found that human monoclonal antibodies protect against inhalation anthrax in three animal models. New anthrax therapies, such as monoclonal and polyclonal antibodies that can neutralize anthrax toxins, are being further developed.

Suicide Information

Suicide is a major, preventable public health problem. In 2004, it was the eleventh leading cause of death in the U.S., accounting for 32,439 deaths.1 The overall rate was 10.9 suicide deaths per 100,000 people.1 An estimated eight to 25 attempted suicides occur per every suicide death.2

Suicidal behavior is complex. Some risk factors vary with age, gender, or ethnic group and may occur in combination or change over time.
If you are in a crisis and need help right away:

Call this toll-free number, available 24 hours a day, every day: 1-800-273-TALK (8255). You will reach the National Suicide Prevention Lifeline, a service available to anyone. You may call for yourself or for someone you care about. All calls are confidential.
What are the risk factors for suicide?

Research shows that risk factors for suicide include:
depression and other mental disorders, or a substance-abuse disorder (often in combination with other mental disorders). More than 90 percent of people who die by suicide have these risk factors.2
stressful life events, in combination with other risk factors, such as depression. However, suicide and suicidal behavior are not normal responses to stress; many people have these risk factors, but are not suicidal.
prior suicide attempt
family history of mental disorder or substance abuse
family history of suicide
family violence, including physical or sexual abuse
firearms in the home,3 the method used in more than half of suicides
incarceration
exposure to the suicidal behavior of others, such as family members, peers, or media figures.2

Research also shows that the risk for suicide is associated with changes in brain chemicals called neurotransmitters, including serotonin. Decreased levels of serotonin have been found in people with depression, impulsive disorders, and a history of suicide attempts, and in the brains of suicide victims. 4
Are women or men at higher risk?
Suicide was the eighth leading cause of death for males and the sixteenth leading cause of death for females in 2004.1
Almost four times as many males as females die by suicide.1
Firearms, suffocation, and poison are by far the most common methods of suicide, overall. However, men and women differ in the method used, as shown below.1 Suicide by: Males (%) Females (%)
Firearms 57 32
Suffocation 23 20
Poisoning 13 38

Is suicide common among children and young people?

In 2004, suicide was the third leading cause of death in each of the following age groups.1 Of every 100,000 young people in each age group, the following number died by suicide:1
Children ages 10 to 14 — 1.3 per 100,000
Adolescents ages 15 to 19 — 8.2 per 100,000
Young adults ages 20 to 24 — 12.5 per 100,000

As in the general population, young people were much more likely to use firearms, suffocation, and poisoning than other methods of suicide, overall. However, while adolescents and young adults were more likely to use firearms than suffocation, children were dramatically more likely to use suffocation.1

There were also gender differences in suicide among young people, as follows:
Almost four times as many males as females ages 15 to 19 died by suicide.1
More than six times as many males as females ages 20 to 24 died by suicide.1
Are older adults at risk?

Older Americans are disproportionately likely to die by suicide.
Of every 100,000 people ages 65 and older, 14.3 died by suicide in 2004. This figure is higher than the national average of 10.9 suicides per 100,000 people in the general population. 1
Non-Hispanic white men age 85 or older had an even higher rate, with 17.8 suicide deaths per 100,000.1
Are Some Ethnic Groups or Races at Higher Risk?

Of every 100,000 people in each of the following ethnic/racial groups below, the following number died by suicide in 2004.1
Highest rates:
Non-Hispanic Whites — 12.9 per 100,000
American Indian and Alaska Natives — 12.4 per 100,000
Lowest rates:
Non-Hispanic Blacks — 5.3 per 100,000
Asian and Pacific Islanders — 5.8 per 100,000
Hispanics — 5.9 per 100,000
What are some risk factors for nonfatal suicide attempts?
As noted, an estimated eight to 25 nonfatal suicide attempts occur per every suicide death. Men and the elderly are more likely to have fatal attempts than are women and youth.2
Risk factors for nonfatal suicide attempts by adults include depression and other mental disorders, alcohol abuse, cocaine use, and separation or divorce.5,6
Risk factors for attempted suicide by youth include depression, alcohol or other drug-use disorder, physical or sexual abuse, and disruptive behavior.6,7
Most suicide attempts are expressions of extreme distress, not harmless bids for attention. A person who appears suicidal should not be left alone and needs immediate mental-health treatment.
What can be done to prevent suicide?

Research helps determine which factors can be modified to help prevent suicide and which interventions are appropriate for specific groups of people. Before being put into practice, prevention programs should be tested through research to determine their safety and effectiveness.8 For example, because research has shown that mental and substance-abuse disorders are major risk factors for suicide, many programs also focus on treating these disorders.

Studies showed that a type of psychotherapy called cognitive therapy reduced the rate of repeated suicide attempts by 50 percent during a year of follow-up. A previous suicide attempt is among the strongest predictors of subsequent suicide, and cognitive therapy helps suicide attempters consider alternative actions when thoughts of self-harm arise.9

Specific kinds of psychotherapy may be helpful for specific groups of people. For example, a recent study showed that a treatment called dialectical behavior therapy reduced suicide attempts by half, compared with other kinds of therapy, in people with borderline personality disorder (a serious disorder of emotion regulation).10

The medication clozapine is approved by the Food and Drug Administration for suicide prevention in people with schizophrenia.11 Other promising medications and psychosocial treatments for suicidal people are being tested.

Since research shows that older adults and women who die by suicide are likely to have seen a primary care provider in the year before death, improving primary-care providers' ability to recognize and treat risk factors may help prevent suicide among these groups.12 Improving outreach to men at risk is a major challenge in need of investigation.
What should I do if I think someone is suicidal?

If you think someone is suicidal, do not leave him or her alone. Try to get the person to seek immediate help from his or her doctor or the nearest hospital emergency room, or call 911. Eliminate access to firearms or other potential tools for suicide, including unsupervised access to medications.
For More Information About Suicide

Suicide Information and Organizations from NLM's MedlinePlus (en Español)
References

1. Centers for Disease Control and Prevention, National Center for Injury Prevention and Control. Web-based Injury Statistics Query and Reporting System (WISQARS) : www.cdc.gov/ncipc/wisqars

2. Moscicki EK. Epidemiology of completed and attempted suicide: toward a framework for prevention. Clinical Neuroscience Research, 2001; 1: 310-23.

3. Miller M, Azrael D, Hepburn L, Hemenway D, Lippmann SJ. The association between changes in household firearm ownership and rates of suicide in the United States, 1981-2002. Injury Prevention 2006;12:178-182; doi:10.1136/ip.2005.010850

4. Arango V, Huang YY, Underwood MD, Mann JJ. Genetics of the serotonergic system in suicidal behavior. Journal of Psychiatric Research. Vol. 37: 375-386. 2003.

5. Kessler RC, Borges G, Walters EE. Prevalence of and risk factors for lifetime suicide attempts in the National Comorbidity Survey. Archives of General Psychiatry, 1999; 56(7): 617-26.

6. Petronis KR, Samuels JF, Moscicki EK, Anthony JC. An epidemiologic investigation of potential risk factors for suicide attempts. Social Psychiatry and Psychiatric Epidemiology, 1990; 25(4): 193-9.

7. U.S. Public Health Service. National strategy for suicide prevention: goals and objectives for action. Rockville, MD: USDHHS, 2001.

8. Gould MS, Greenberg T, Velting DM, Shaffer D. Youth suicide risk and preventive interventions: a review of the past 10 years. Journal of the American Academy of Child and Adolescent Psychiatry, 2003; 42(4): 386-405.

9. Brown GK, Ten Have T, Henriques GR, Xie SX, Hollander JE, Beck AT. Cognitive therapy for the prevention of suicide attempts: a randomized controlled trial. Journal of the American Medical Association . 2005 Aug 3;294(5):563-70.

10. Linehan MM, Comtois KA, Murray AM, Brown MZ, Gallop RJ, Heard HL, Korslund KE, Tutek DA, Reynolds SK, Lindenboim N. Two-Year Randomized Controlled Trial and Follow-up of Dialectical Behavior Therapy vs Therapy by Experts for Suicidal Behaviors and Borderline Personality Disorder. Archives of General Psychiatry, 2006 Jul;63(7):757-766.

11. Meltzer HY, Alphs L, Green AI, Altamura AC, Anand R, Bertoldi A, Bourgeois M, Chouinard G, Islam MZ, Kane J, Krishnan R, Lindenmayer JP, Potkin S; International Suicide Prevention Trial Study Group. Clozapine treatment for suicidality in schizophrenia: International Suicide Prevention Trial (InterSePT). Archives of General Psychiatry, 2003; 60(1): 82-91.

12. Luoma JB, Pearson JL, Martin CE. Contact with mental health and primary care prior to suicide: a review of the evidence. American Journal of Psychiatry, 2002; 159: 909-16.

NIH Publication No. 06-4594

Hodgkin Disease Information

Hodgkin disease (or Hodgkin lymphoma) is a type of lymphoma. There are 2 kinds of lymphoma:

Hodgkin disease (named after Dr. Thomas Hodgkin, who recognized it in 1832)

non-Hodgkin lymphoma

Non-Hodgkin lymphoma is covered in a separate American Cancer Society document.


The Lymph System and Lymphoid Tissue

To better understand Hodgkin disease, it helps to know about the body's lymph (pronounced "limf") system. The lymph system is made up of lymphoid tissue, lymph vessels, and a clear fluid called lymph.

Lymphatic tissue includes the lymph nodes and other organs that are part of the body’s immune and blood-forming systems. Lymph nodes are small, bean-shaped organs found in many places throughout the body. Other parts of the lymphatic system include the spleen, the bone marrow, and the thymus gland.

The lymph nodes make and store lymphocytes, which are special white blood cells that fight infection. There are 2 types of lymphocytes: B lymphocytes (or B cells) and T lymphocytes (or T cells). Most cases of Hodgkin disease start in B lymphocytes.


Start and Spread of Hodgkin Disease

Because lymphatic tissue is found in many parts of the body, Hodgkin disease can start almost anywhere. Most often it starts in lymph nodes in the upper part of the body. (Those in the chest, neck, or under the arms.) This disease causes the lymphatic tissue to become enlarged and press on nearby structures. But lymph nodes can become swollen for many reasons. Most often it happens when the body is fighting an infection.

Hodgkin disease can spread through the lymphatic vessels in a stepwise fashion from lymph node to lymph node. Rarely, and late in the disease, it gets into the blood vessels and can then spread to almost any other place in the body.


The Hodgkin Disease Cell

The cancer cells in Hodgkin disease are unique. They are called Reed-Sternberg cells (or Hodgkin cells). They are an abnormal type of B lymphocyte that is much larger than normal lymphocytes.

The 2 main types are classical Hodgkin disease (which has several subtypes) and nodular lymphocyte predominance Hodgkin disease. The types differ in the way the cancer cells look under a microscope. The types are important because each grows and spreads in a different way. Often they are treated differently. Ask your doctor about the exact type of Hodgkin disease you (or your loved one) has.


Classical Hodgkin Disease

Classical Hodgkin disease (HD) accounts for about 95% of all cases of Hodgkin disease in developed countries. It has 4 subtypes, all of which have Reed-Sternberg cells that can be seen under the microscope.


Nodular Lymphocyte Predominant Hodgkin Disease

Nodular lymphocyte predominant Hodgkin disease (NLPHD) accounts for about 5% of Hodgkin disease. This type mostly involves lymph nodes in the neck and under the arm.

All types of Hodgkin disease are cancerous (malignant) because as they grow they may compress, invade, and destroy normal tissue and spread to other tissues. Hodgkin disease occurs in both children and adults. Because Hodgkin disease is similar in both children and adults, this document covers treatment in both groups.

Autoimmune Disorders Information

The immune system is the body's means of protection against microorganisms and other "foreign" substances. It is composed of two major parts. One component, B lymphocytes, produces antibodies, proteins that attack "foreign" substances and cause them to be removed from the body; this is sometimes called the humoral immune system. The other component consists of special white blood cells called T lymphocytes, which can attack "foreign" substances directly; this is sometimes called the cellular immune system. It takes time for both components of the immune system to develop. The only protections a newborn will have are the antibodies that have transferred from the mother to the baby before birth. T lymphocytes become protective, and antibodies are developed after a person is exposed to specific "foreign" threats. Over a lifetime, the immune system develops an extensive library of identified substances and microorganisms that are cataloged as “threat” or “not threat.” Vaccinations utilize this process to add to the library. They expose a person’s immune system to weakened or inactivated forms of bacteria and viruses that can no longer cause disease, so that the person’s immune system will recognize them and create antibodies that will be ready to protect against the infectious forms of these microorganisms if the person comes in contact with them in the future.

Normally, the immune system can distinguish between “self” and “not self” and only attacks those tissues that it recognizes as “not self.” This is usually the desired response, but not always. When a person is given an organ transplant, the immune system will correctly recognize the new organ as “not self” (unless it is from an identical twin) and will attack it in a process called rejection. To prevent rejection, the transplant patient must take drugs that reduce the activity of the immune system (immunosuppressants) for the rest of his life.

What are autoimmune disorders?
Autoimmune disorders are diseases caused by the body producing an inappropriate immune response against its own tissues. Sometimes the immune system will cease to recognize one or more of the body’s normal constituents as “self” and will create autoantibodies – antibodies that attack its own cells, tissues, and/or organs. This causes inflammation and damage and it leads to autoimmune disorders.

The cause of autoimmune diseases is unknown, but it appears that there is an inherited predisposition to develop autoimmune disease in many cases. In a few types of autoimmune disease (such as rheumatic fever), a bacteria or virus triggers an immune response, and the antibodies or T-cells attack normal cells because they have some part of their structure that resembles a part of the structure of the infecting microorganism.

Autoimmune disorders fall into two general types: those that damage many organs (systemic autoimmune diseases) and those where only a single organ or tissue is directly damaged by the autoimmune process (localized). However, the distinctions become blurred as the effect of localized autoimmune disorders frequently extends beyond the targeted tissues, indirectly affecting other body organs and systems. Some of the most common types of autoimmune disorders include:
Systemic Autoimmune Diseases Localized Autoimmune Diseases

Rheumatoid arthritis (RA) and Juvenile RA (JRA) (joints; less commonly lung, skin)
Type 1 Diabetes Mellitus (pancreas islets)

Lupus [Systemic Lupus Erythematosus] (skin, joints, kidneys, heart, brain, red blood cells, other)
Hashimoto's thyroiditis, Graves' disease (thyroid)

Scleroderma (skin, intestine, less commonly lung)
Celiac disease, Crohn's disease, Ulcerative colitis (GI tract)

Sjogren's syndrome (salivary glands, tear glands, joints)
Multiple sclerosis*

Goodpasture's syndrome (lungs, kidneys)
Addison's disease (adrenal)


Wegener's granulomatosis (blood vessels, sinuses, lungs, kidneys)
Primary biliary cirrhosis, Sclerosing cholangitis, Autoimmune hepatitis (liver)

Polymyalgia Rheumatica (large muscle groups)
Temporal Arteritis / Giant Cell Arteritis (arteries of the head and neck)

Guillain-Barre syndrome (nervous system)




* There is still some debate as to whether MS is an autoimmune disease

For a more complete list of autoimmune conditions, visit the Patient Information page of the American Autoimmune Related Diseases Association, Inc.

In some cases, a person may have more than one autoimmune disease; for example, persons with Addison's disease often have type 1 diabetes, while persons with sclerosing cholangitis often have ulcerative colitis.

In some cases, the antibodies may not be directed at a specific tissue or organ; for example, antiphospholipid antibodies can react with clotting proteins in the blood, leading to formation of blood clots within the blood vessels (thrombosis).

Autoimmune disorders are diagnosed, evaluated, and monitored through a combination of autoantibody blood tests, blood tests to measure inflammation and organ function, clinical presentation, and through non-laboratory examinations such as X-rays. There is currently no cure for autoimmune disorders, although in rare cases they may disappear on their own. Many people may experience flare-ups and temporary remissions in symptoms, others chronic symptoms or a progressive worsening. Treatment of autoimmune disorders is tailored to the individual and may change over time. The goal is to relieve symptoms, minimize organ and tissue damage, and preserve organ function. New treatments and a greater understanding of autoimmune disorders are being researched. Patients should talk to their doctors and to any specialists they are referred to about their treatment options.

For more information on specific autoimmune disorders, see the related condition pages and web sites listed below.

How to Find Help Through Psychotherapy Information

Millions of Americans have found relief from depression and other emotional difficulties through psychotherapy. Even so, some people find it hard to get started or stay in psychotherapy. This brief question-and-answer guide provides some basic information to help individuals take advantage of outpatient (non-hospital) psychotherapy.

Why do people consider using psychotherapy?

Psychotherapy is a partnership between an individual and a professional such as a psychologist who is licensed and trained to help people understand their feelings and assist them with changing their behavior. According to the National Institute of Mental Health, one-third of adults in the United States experience an emotional or substance abuse problem. Nearly 25 percent of the adult population suffers at some point from depression or anxiety.

People often consider psychotherapy, also known simply as therapy, under the following circumstances:

- They feel an overwhelming and prolonged sense of sadness and helplessness, and they lack hope in their lives.
- Their emotional difficulties make it hard for them to function from day to day. For example, they are unable to concentrate on assignments and their job performance suffers as a result.
- Their actions are harmful to themselves or to others. For instance, they drink too much alcohol and become overly aggressive.
- They are troubled by emotional difficulties facing family members or close friends.

What does research show about the effectiveness of psychotherapy?

Research suggests that therapy effectively decreases patients' depression and anxiety and related symptoms- such as pain, fatigue and nausea. Psychotherapy has also been found to increase survival time for heart surgery and cancer patients, and it can have a positive effect on the body's immune system. Research increasingly supports the idea that emotional and physical health are very closely linked and that therapy can improve a person's overall health status.

There is convincing evidence that most people who have at least several sessions of psychotherapy are far better off than untreated individuals with emotional difficulties. One major study showed that 50 percent of patients noticeably improved after eight sessions while 75 percent of individuals in therapy improved by the end of six months. Psychotherapy with children is similar in effectiveness to psychotherapy with adults.

How do I find a qualified therapist?

Selecting a therapist is a highly personal matter. A professional who works very well with one individual may not be a good choice for another person. There are several ways to get referrals to qualified therapists, such as licensed psychologists, including the following:

- Talk to close family members and friends for their recommendations, especially if they have had a good experience with psychotherapy.
- Many state psychological associations operate referral services which put individuals in touch with licensed and competent mental health providers. (Call the American Psychological Association's consumer information line at 800-964-2000 to be connected to the appropriate state organization.)
- Ask your primary care physician (or other health professional) for a referral. Tell the doctor what's important to you in choosing a therapist so he or she can make appropriate suggestions.
- Inquire at your church or synagogue.
- Look in the phone book for the listing of a local mental health association or community mental health center and check these sources for possible referrals.

Ideally, you will end up with more than one lead. Call and request the opportunity, either by phone or in person, to ask the therapist some questions. You might want to inquire about his or her licensure and level of training, approach to psychotherapy, participation in insurance plans and fees. Such a discussion should help you sort through your options and choose someone with whom you believe you might interact well.

If I begin psychotherapy, how should I try to gain the most from it?

There are many approaches to outpatient psychotherapy and various formats in which it may occur, including individual, group and family psychotherapy. Despite the variations, all psychotherapy is a two-way process that works especially well when patients and their therapists communicate openly. Research has shown that the outcome of psychotherapy is improved when the therapist and patient agree early about what the major problems are and how psychotherapy can help.

You and your therapist both have responsibilities in establishing and maintaining a good working relationship. Be clear with your therapist about your expectations and share any concerns that may arise. Psychotherapy works best when you attend all scheduled sessions and give some forethought to what you want to discuss during each one.

How can I evaluate whether therapy is working well?

As you begin psychotherapy, you should establish clear goals with your therapist. Perhaps you want to overcome feelings of hopelessness associated with depression. Or maybe you would like to control a fear that disrupts your daily life. Keep in mind that certain tasks require more time to accomplish than others. You may need to adjust some of your goals depending on how long you plan to be in psychotherapy.

After a few sessions, it's a good sign if you feel the experience is truly a joint effort and that you and the therapist enjoy a good rapport. On the other hand, you should be open with your therapist if you find yourself feeling "stuck" or lacking direction once you've been in psychotherapy awhile.

There may be times when a therapist appears cold and uninterested or doesn't seem to regard you positively. Tell your therapist if this is the situation, or if you question other aspects of his or her approach. If you find yourself thinking about discontinuing psychotherapy, talk with your therapist. It might be helpful to consult another professional, provided you let your therapist know you are seeking a second opinion.

Patients often feel a wide range of emotions during psychotherapy. Some qualms about psychotherapy that people may have result from the difficulty of discussing painful and troubling experiences. When this happens, it can actually be a positive sign indicating that you are starting to explore your thoughts and behaviors.

You should spend time with your therapist periodically reviewing your progress (or your concern that you are not making sufficient headway). Although there are other considerations affecting the duration of psychotherapy, success in reaching your primary goals should be a major factor in deciding when your psychotherapy should end.

Psychotherapy isn't easy, but patients who are willing to work in close partnership with their therapists often find relief from their emotional distress and begin to lead more productive and fulfilling lives.

Von Hippel-Lindau syndrome Information

Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels and are typically noncancerous. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.

People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and male genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of noncancerous tumor called a pheochromocytoma. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure.

About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance.

Von Hippel-Lindau syndrome can be divided into two major types based on the risk of developing pheochromocytomas. Type 1 von Hippel-Lindau syndrome is associated with a low risk of these tumors, and type 2 is characterized by a much higher risk. Type 2 can be further divided into types 2A, 2B, and 2C, depending on the probability of developing renal cell carcinoma and hemangioblastomas.
How common is von Hippel-Lindau syndrome?

The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.
What genes are related to von Hippel-Lindau syndrome?

Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.

Read more about the VHL gene.
How do people inherit von Hippel-Lindau syndrome?

Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.

Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumor and cyst formation in von Hippel-Lindau syndrome. A mutation in the second copy of the VHL gene occurs during a person's lifetime in certain cells within organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumors and cysts to develop. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome.
Where can I find information about treatment for von Hippel-Lindau syndrome?

These resources address the management of von Hippel-Lindau syndrome and may include treatment providers.
Brigham and Women's Hospital
Gene Review
Genetic Alliance
M. D. Anderson Cancer Center
MedlinePlus Encyclopedia: Pheochromocytoma
MedlinePlus Encyclopedia: Renal Cell Carcinoma

You might also find information on treatment of von Hippel-Lindau syndrome in Educational resources and Patient support.
Where can I find additional information about von Hippel-Lindau syndrome?

You may find the following resources about von Hippel-Lindau syndrome helpful. These materials are written for the general public.
MedlinePlus - Health information (5 links)
Additional NIH Resources - National Institutes of Health (4 links)
Educational resources - Information pages (8 links)
Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary
Gene Tests - DNA tests ordered by healthcare professionals
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog
What other names do people use for von Hippel-Lindau syndrome?
Angiomatosis retinae
Cerebelloretinal Angiomatosis, Familial
Hippel-Lindau Disease
VHL syndrome
von Hippel-Lindau Disease

See How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about von Hippel-Lindau syndrome?
See How can I find a genetics professional in my area? in the Handbook.
Ask the Genetic and Rare Diseases Information Center.
Submit your question to Ask the Geneticist.
Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will have the condition?
Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.
Genetics and health
Resources for Patients and Families
Resources for Health Professionals
What glossary definitions help with understanding von Hippel-Lindau syndrome?

adrenal glands ; angioma ; ataxia ; autosomal ; autosomal dominant ; cancer ; carcinoma ; cell ; cysts ; egg ; familial ; gene ; hemangioblastoma ; hormone ; incidence ; kidney ; mutation ; new mutation ; pancreas ; pheochromocytoma ; probability ; protein ; renal ; reproductive cells ; retina ; sign ; sperm ; symptom ; syndrome ; tinnitus ; tissue ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Tuberous sclerosis complex (TSC) Disease Information

Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. You will see it referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC). The term TSC is used in scientific literature to distinguish tuberous sclerosis complex from Tourette's syndrome.

The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, mental retardation and autism. However, there are also many people with TSC living independent, healthy lives who enjoy challenging professions such as doctors, lawyers, educators and researchers.

How many people have TSC?

At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. TSC is as common as ALS (Lou Gehrig's Disease) but virtually unknown by the general population.

How does a person develop TSC?

Tuberous sclerosis complex is transmitted either through genetic inheritance or as a spontaneous genetic mutation. Children have a 50 percent chance of inheriting TSC if one of their parents has this condition. At this point, only one-third of TSC cases are known to be inherited. The other two-thirds are believed to be a result of spontaneous mutation. The cause of these mutations is still a mystery.

If a parent has a mild form of TSC, will their child with TSC also be mildly affected?

People with mild cases of tuberous sclerosis complex can produce a child who is more severely affected. In fact, some people are so mildly affected that they may only find out they also have TSC after their more severely affected child receives a diagnosis of TSC.

How is TSC diagnosed?

Diagnosis of tuberous sclerosis complex is currently made after the following tests are preformed: a brain MRI or CT Scan, renal ultrasound, echocardiogram of the heart, EKG, eye exam and a Wood's Lamp evaluation of the skin.

What genes are responsible for TSC?

Two genes have been identified that can cause tuberous sclerosis complex. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene is located on chromosome 9 and is called the hamartin gene. The other gene, TSC2, is located on chromosome 16 and is called the tuberin gene. Researchers are now trying to determine what these genes do and how a defect in these genes causes tuberous sclerosis complex.

How can so many different organs be affected by TSC?

Both the TSC1 and TSC2 genes are believed to suppress tumor growth in the body. When either of these genes are defective, tumors are not suppressed and tuberous sclerosis complex results. The genes also play a role in the early fetal development of the brain and skin.

Are the tumors cancerous?

The tumors resulting from tuberous sclerosis complex are non-cancerous, but may still cause serious problems. Tumors that grow in the brain can block the flow of cerebral spinal fluid in the spaces (ventricles) in the brain. This can lead to behavior changes, nausea, headaches or a number of other symptoms. In the heart, the tumors are usually at their largest at birth, and then decrease in size as the individual gets older. These heart tumors, called cardiac rhabdomyomas, can cause problems at birth if they are blocking the flow of blood or causing severe arrhythmia problems. The tumors in the eyes are not as common, but can present problems if they grow and block too much of the retina. The tumors in the kidney (renal angiomyolipoma) can become so large they eventually take over all of the normal kidney function. In the past, the patient was left until they developed kidney failure. Today, doctors are more aggressive and remove individual tumors before they get too large and compromise healthy kidney tissue. Very rarely (less than 2 percent of) individuals with TSC develop malignant (cancerous) kidney tumors.

What is the normal life expectancy of an individual with TSC?

Most people with TSC will live a normal life span. There can be complications in some organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated. To reduce these dangers, people with TSC should be monitored throughout their life by their physician for potential complications. Thanks to research findings and improved medical therapies, people with tuberous sclerosis complex can expect improved health care.

Since there is no cure, what can be done?

Early intervention is helping to overcome developmental delays. Advancements in research are bringing new and improved therapeutic options. Surgery to remove tumors or stop tumor growth is helping to preserve the function of affected organs. Technology is pinpointing the exact portions of the brain stimulating seizures and creating new therapies to help control seizures. With every new day we are one step closer to finding improved treatments.

Tourette Syndrome Disease Information

1. What is Tourette Syndrome?

Tourette Syndrome TS) is a neurological disorder characterized by tics -- involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way. The symptoms include:
Both multiple motor and one or more vocal tics present at some time during the illness although not necessarily simultaneously;

The occurrence of tics many times a day (usually in bouts) nearly every day or intermittently throughout a span of more than one year; and

Periodic changes in the number, freency, type and location of the tics, and waxing and waning of their severity. Symptoms can sometimes disappear for weeks or months at a time.

Onset before the age of 18.

The term, "involuntary," used to describe TS tics is sometimes confusing since it is known that most people with TS do have some control over their symptoms. What is not recognized is that the control, which can be exercised anywhere from seconds to hours at a time, may merely postpone more severe outbursts of symptoms. Tics are experienced as irresistible and (as with the urge to sneeze) eventually must be expressed. People with TS often seek a secluded spot to release their symptoms after delaying them in school or at work. Typically, tics increase as a result of tension or stress, and decrease with relaxation or when focusing on an absorbing task.


2. How would a typical case of TS be described?

The term typical cannot be applied to TS. The expression of symptoms covers a spectrum from very mild to quite severe. However, the majority of cases can be categorized as mild.


3. Is obscene language (coprolalia) a typical symptom of TS?

Definitely not. The fact is that cursing, uttering obscenities, and ethnic slurs are manifested by fewer than 15% of people with TS. Too often, however, the media seize upon this symptom for its sensational effect. Because milder cases are being diagnosed, the incidence of coprolalia will probably decrease.


4. What causes the symptoms?

The cause has not been established, although current research presents considerable evidence that the disorder stems from the abnormal activity of at least one brain chemical (neurotransmitter) called dopamine. There may be abnormal activity of the receptor for this chemical as well. Undoubtedly, other neurotransmitters, e.g. serotonin, may involved as well.


5. How is TS diagnosed?

A diagnosis is made by observing symptoms and by evaluating the history of their onset. No blood analysis or other type of neurological testing exists to diagnose TS. However, some physicians may wish to order an EEG, MRI, CAT scan, or certain blood tests to rule out other ailments that might be confused with TS. Rating scales are available for assessment of tic severity.


6. What are the first symptoms?

The most common first symptom is a facial tic such as rapidly blinking eyes or twitches of the mouth. Involuntary sounds such as throat clearing and sniffing, or tics of the limbs may be initial signs. For a minority, the disorder begins abruptly with multiple symptoms of movements and sounds.


7. How are tics classified?

Two categories of tics and several other examples are:

Simple:

Motor -- Eye blinking, head jerking, shoulder shrugging and facial grimacing.

Vocal -- Throat clearing, yelping and other noises, sniffing and tongue clicking.

Complex:

Motor -- Jumping, touching other people or things, smelling, twirling about, and only rarely, self-injurious actions including hitting or biting oneself.

Vocal -- Uttering words or phrases out of context and coprolalia (vocalizing socially unacceptable words).

The range of tics or tic-like symptoms that can be seen in TS is very broad. The complexity of some symptoms is often perplexing to family members, friends, teachers and employers who may find it hard to believe that the actions or vocal utterances are involuntary.


8. How is TS treated?

The majority of people with TS are not significantly disabled by their tics or behavioral symptoms, and therefore do not require medication. However, there are medications available to help control the symptoms when they interfere with functioning. The drugs include haloperidol (Haldol), clonidine (Catapres), pimozide (Orap), risperidone (Risperdal), fluphenazine (Prolixin, Permitil), and clonazepam (Klonopin). Drugs such as methylphenidate (Ritalin) and related drugs, and dextroamphetamine (Dexedrine) that are prescribed for ADHD have been described as increasing tics; this is controversial. Recent studies have not found a correlation with the use of these medication and an increase in tics. For obsessive compulsive traits that interfere significantly with daily functioning, fluoxetine (Prozac), clomipramine (Anafranil), sertraline (Zoloft) and paroxetine (Paxil) may be prescribed.

Dosages which achieve maximum control of symptoms vary for each patient and must be gauged carefully by a doctor. The medicine is administered in small doses with gradual increases to the point where there is maximum alleviation of symptoms with minimal side effects. Some of the undesirable reactions to medications are weight gain, muscular rigidity, fatigue, motor restlessness and social withdrawal, most of which can be reduced with specific medications. Some side effects such as depression and cognitive impairment can be alleviated with dosage reduction or a change of medication.

Other types of therapy may also be helpful. Psychotherapy and counseling can assist a person with TS and help his/her family cope, and some behavior therapies can teach the substitution of one tic for another that is more acceptable. The use of relaxation techniques and/or biofeedback may serve to alleviate stress reactions that cause tics to increase.


9. Is it important to treat Tourette Syndrome early?

Yes, especially in those instances when the symptoms are viewed by some people as bizarre, disruptive and frightening. It is also important to consider therapy when the child is concerned over her/his acceptance to peers. Sometimes TS symptoms provoke ridicule and rejection by peers, neighbors, teachers and even casual observers. Parents may be overwhelmed by the strangeness of their child's behavior. The child may be threatened, excluded from activities and prevented from enjoying normal interpersonal relationships. These difficulties may become greater during adolescence -- an especially trying period for young people and even more so for a person coping with a neurological problem. To avoid psychological harm, early diagnosis and treatment are crucial. Moreover, in more serious cases, it is possible to control many of the symptoms with medication.


10. Do all people with TS have associated behaviors in addition to tics?

No, but many do have one or more additional problems which may include:

Obsessions which consist of repetitive thoughts which can become unwanted or bothersome.

Compulsions and Ritualistic Behaviors which occur when a person feels that something must be done over and over and/or in a certain way. Examples include touching an object with one hand after touching it with the other hand to "even things up" or repeatedly checking to see that the flame on the stove is turned off. Children sometimes beg their parents to repeat a sentence many times until it "sounds right." Repetitive copying and erasing of work in school can be quite disabling.

Attention Deficit Disorder with or without Hyperactivity
(ADD or ADHD) occurs in many people with TS. Children may show signs of hyperactivity before TS symptoms appear. Indications of ADHD may include: difficulty with concentration; failing to finish what is started; not listening; being easily distracted; often acting before thinking; shifting constantly from one activity to another; needing a great deal of supervision; and general fidgeting. Adults too may exhibit signs of ADHD such as overly impulsive behavior and concentration difficulties and the need to move constantly. ADD without hyperactivity includes all of the above symptoms except for the high level of activity. As children with ADHD mature, the need to move is more likely to be expressed by restless, fidgety behavior. Difficulties with concentration and poor impulse control may persist.

Learning Disabilities may include reading and writing difficulties, problems with mathematics, and perceptual problems.

Difficulties with impulse control which may result, in rare instances, in overly aggressive behaviors or socially inappropriate acts. Also, defiant and angry behaviors can occur.

Sleep Disorders are fairly common among people with TS. These include difficulty getting to sleep, frequent awakenings or walking or talking in one's sleep.


11. Do students with TS have special educational needs?

While school children with TS as a group have the same IQ range as the population at large, many have special educational needs. Data show that many may have some kind of learning problem. That condition, combined with attention deficits and the difficulty coping with frequent tics, often call for special educational assistance. The use of tape recorders, typewriters, or computers for reading and writing problems, un-timed exams (in a private room if vocal tics are a problem), and permission to leave the classroom when tics become overwhelming are often helpful. Some children need extra help such as access to tutoring in a resource room.

When difficulties in school cannot be resolved, an educational evaluation may be indicated. A resulting identification as "other health impaired" under federal law will entitle the student to an Individual Education Plan (IEP) which addresses specific educational problems in school. Such an approach can significantly reduce the learning difficulties that prevent the young person from performing at his/her potential. The child who cannot be adequately educated in a public school with special services geared to his/her individual needs may be best served by enrollment in a special school or home schooled.


12. Is TS inherited?

Genetic studies indicate that TS is inherited as a dominant gene (or genes) causing different symptoms in different family members. A person with TS has about a 50% chance of passing the gene to one of his/her children with each separate pregnancy. However, that genetic predisposition may express itself as TS, as a milder tic disorder or as obsessive compulsive symptoms with no tics at all. It is known that a higher than normal incidence of milder tic disorders and obsessive compulsive behaviors occur in the families of TS patients.

The sex of the offspring also influences the expression of the gene. The chance that the gene-carrying child of a person with TS will have symptoms is at least three to four times higher for a son than for a daughter. Yet only about 10% of the children who inherit the gene will have symptoms severe enough to ever require medical attention. In some cases TS may not be inherited, and cases such as these are identified as sporadic TS. The cause in these instances is unknown.


13. Is there a cure?

Not yet.


14. Is there ever a remission?

Many people experience marked improvement in their late teens or early twenties. Most people with TS get better, not worse, as they mature, and those diagnosed with TS have a normal life span. As many as 1/3 of patients experience remission of tic symptoms in adulthood.


15. How many people in the U.S. have TS?

Since many people with TS have yet to be diagnosed, there are no absolute figures. The official estimate by the National Institutes of Health is that 100,000 Americans have full-blown TS. Some genetic studies suggest that the figure may be as high as one in two hundred if those with chronic multiple tics and/or transient childhood tics are included in the count.


16. What is the history of TS?

In 1825 the first case of TS was reported in medical literature with a description of the Marquise de Dampierre, a noblewoman whose symptoms included involuntary tics of many parts of her body and various vocalizations including coprolalia and echolalia. Later, Dr. Georges Gilles de la Tourette, the French neurologist for whom the disorder is named, first described nine cases in 1885. Samuel Johnson, the lexicographer, and Andre Malraux, the French author, are among the famous people who are thought to have had TS.


17. What is the current focus of research?

Since 1984, the TSA has directly funded important research investigations in a number of scientific areas relevant to TS. Recently, studies have intensified to understand how the disorder is transmitted from one generation to the next, and researchers are working toward locating the gene marker for TS. That focus has been enhanced by the efforts of a TSA- supported international group of scientists who have formed a unique network to share what they know about the genetics of TS and to systematically cooperate to unravel the unknown. Additional insights are being obtained from studies of large families (kindreds) with numerous members who have TS. At the same time, investigators continue to study specific groups of brain chemicals to better understand the syndrome and to identify new and improved medications.


18. What type of services for families exist?

Local TSA affiliates and support groups allow families to exchange ideas and feelings about their common problems. Often family therapy is helpful. Parents of a child with TS have to walk a fine line between understanding and overprotection. They are constantly faced with deciding whether or not certain actions are the expression of TS or just poor behavior. Parents then must determine the appropriate response. For socially unacceptable behavior, a child should be encouraged to control what he/she can whenever possible, and try to substitute what is more socially acceptable. Parents are urged to give their children with TS the opportunity for as much independence as possible, while gently but firmly limiting attempts by some children to use their symptoms to control those around them.


19. What is the Tourette Syndrome Association?

TSA, founded in 1972, is the only national voluntary non-profit membership organization dedicated to:
Identifying the cause;
Finding the cure; and
Controlling the effects of TS.

Members include individuals with the disorder, their relatives and other interested, concerned people. The Association develops and disseminates educational material to individuals, professionals and to agencies in the fields of health care, education and government; coordinates support services to help people and their families cope with the problems that occur with TS; funds research that will ultimately find the cause of and cure for TS and, at the same time, lead to improved medications and treatments.

TSA also:
Offers direct help to TS families in crisis situations through its Information and Referral Service

Organizes workshops and symposiums for scientists, clinicians and others working in the field of TS

Promotes public awareness and understanding

Develops and maintains state-by-state lists of doctors who can diagnose and treat TS, as well as medical referrals in other countries; lists of allied professionals (psychologists, social workers) by state; ABA lists of pro-bono attorneys by state; advocate lists by state; and lists of health insurance resources by state.

Sponsors the Tourette Syndrome Brain Bank Program involving collection of sorely needed tissue for scientific research

Serves many thousands of members throughout the USA and abroad

Increases the knowledge and sensitivity of health care professionals to TS through exhibits at conferences, the dissemination of literature and the organization of national meetings

Organizes and assists local chapters and support groups throughout the US and around the world

Represents the interests of members to the government on critical policy issues including orphan drugs, health insurance and employment


20. Why become a member of TSA?
To help reduce stigma by supporting TSA in its efforts to increase public understanding of TS symptoms

To help bring about the early identification and proper treatment of TS

To receive the quarterly TSA Newsletter containing the latest information on treatment, research programs and scientific discoveries

To join other families at meetings to discuss common problems and offer mutual support

To obtain discounts on publications

To support TSA advocacy programs

To become eligible for discounted registration fees at TSA National Conferences

To help conquer Tourette Syndrome

The Tourette Syndrome Association has publications and videos that discuss in detail many of the topics touched upon on this page. Visit our online store

The above questions and answers are intended to provide basic information about TS. They are not intended to, nor do they constitute medical advice. Readers are warned against changing medical schedules or life activities based on this information without first consulting a physician.

Our programs of research, professional and public education, and family services are made possible through the generosity of our donors.

Tay-Sachs Disease Information

A healthy baby is able to develop vision, movement, hearing, and other vital functions, in part, because enzymes clear out fatty protein and other unwanted material that can interfere with growth.

But a baby with Tay-Sachs disease is born without one of those important enzymes, called Hexosaminidase A (Hex A). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development.

A child can only get Tay-Sachs by inheriting it. The genetic trait is relatively common among certain ethnic groups, such as Ashkenazi Jews. Because the disease can be detected before a child is born, couples in those ethnic groups who are thinking of having children may want to get a blood test to find out whether their child would be likely to have the disease.
Who Is at Risk for Tay-Sachs?

Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although Ashkenazi Jews (Jews of central and eastern European descent) are at the highest risk for the disease, it is now also prevalent in non-Jewish populations, including people of French-Canadian/Cajun heritage.

Some people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease. Among Ashkenazi Jews, one in 27 people are carriers. In the general population, one in 250 people are carriers.

A child can only have Tay-Sachs disease if both parents are carriers of the gene. When two carriers have a child together, there's a:
50% chance that their child will be a carrier, but not have the disease
25% chance that their child will not be a carrier and not have the disease
25% chance that their child will have the disease
Screening for Tay-Sachs Disease

Couples who are considering having children - or are already expecting - can get screened for the Tay-Sachs gene with a simple blood test. If both the mother and father carry the Tay-Sachs gene, an obstetrician/gynecologist may refer the couple to a genetic counselor for more information.
Prenatal Diagnosis of Tay-Sachs Disease

Pregnant mothers can have their unborn babies screened for the Hex A deficit that causes Tay-Sachs disease. (If the tests do not detect Hex A, the infant will have Tay-Sachs disease. If the tests do detect Hex A, the infant won't have it.)

Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling, or CVS, in which a small sample of the placenta is drawn into a needle or a small tube for analysis.

Between the 15th and 18th weeks of pregnancy, the mother can also have an amniocentesis to screen for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.
What Are the Signs and Symptoms of Tay-Sachs?

A child is usually tested for Tay-Sachs after he or she starts having hearing, sight, and movement problems. A doctor can identify the disease with a physical exam and blood tests.

A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. During the next months - or even years - the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By the age of 2, the child may have seizures and become completely disabled. Death usually occurs by the time the child is 5 years old.

In rare forms of the disease, a child may have the Hex A enzyme, but not enough of it to prevent developmental problems. In one of these forms, called Juvenile Hex A Deficiency, those problems may not appear until the child is 2 to 5 years old. The disease progresses more slowly, but death usually occurs by the time the child is 15 years old. In another, milder form of Tay-Sachs, the disease causes muscle weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.
Helping a Child With Tay-Sachs

There is no cure for any form of Tay-Sachs disease. But doctors may be able to help your child cope with the symptoms of the disease by prescribing medication to relieve pain, manage seizures, and control muscle spasticity.

Researchers are studying ways to improve treatment for Tay-Sachs disease and screening methods for the disease.

If your child has been diagnosed with Tay-Sachs or both you and your partner are carriers of the gene, talk to your child's doctor or a genetic counselor about ongoing research. You may also want to seek support from a group such as the National Tay-Sachs and Allied Diseases Foundation or the March of Dimes Birth Defects Foundation.

Reviewed by: Louis E. Bartoshesky, MD, MPH