The Center of Emphasis in Neurosciences conducts research in a variety of mental illnesses. Two common themes run throughout our research: understanding the genetic factors underlying many mental illnesses; and mental illnesses as they affect the Latino population.
Mental illnesses are not any more genetic in Latinos than in other populations. However, due to their different biologic and cultural origins, as modern medicine moves to identifying the causes and treatments of illness at the genetic level, it is critical that genetic research include this important group of Americans, now the largest minority in the United States. In south Texas, Latinos are the majority population. Thanks to the work of COE-N, modern advances in identifying the genes for severe mental illnesses are being conducted in Latino populations. This work complements the work of research institutes whose primary focus is on other ethnic groups (European American, African Americans, Europeans, Chinese, and Japanese).
COE-N has taken a leadership role in uniting investigators from throughout Latin America, fostering training and active research studies with leading scientists from the United States, Mexico, Guatemala, Costa Rica, Peru, and Argentina. Twice, we have hosted National Institute of Minority Health conferences to build collaborative psychiatric research studies between the United States and Latin American countries. COE-N has preformed groundbreaking research in Latino populations that has identified chromosomal locations and genes involved in schizophrenia and bipolar disorder. As our research involves families, communities, and international collaboration, we have been able to develop research in a number of areas relevant to the study of mental health in Latinos.
Our researchers have focused on a variety of research topics including gene identification, psychological issues in mental illness, cross-cultural studies, ethical and anthropological research, population genetics, family awareness of mental illness, and health disparities.
Here we highlight some of the main mental illnesses and research topics with COE-N faculty, students, and staff are currently involved in.
Schizophrenia is a severe medical illness that affects more than two million people in the United States. It is found in both men and women, and is often first seen in men between ages 15 and 25, and in women ages 25 to 35. Symptoms of schizophrenia include the presence of positive, negative, and cognitive symptoms.
Positive symptoms include delusions (false beliefs) and hallucinations (false perceptions) and can be frightening for patients and caregivers. Patients with schizophrenia often suffer from isolation and depression. Self-medication with drugs and alcohol is often seen. Many people with schizophrenia will attempt suicide and many will commit suicide, a testament to the suffering endured by those who have this illness.
Negative symptoms include a lack of emotional expression, inability to start and follow through with activities, speech that is brief and devoid of content, and a lack of interest in life. Negative symptoms are often categorized as laziness by caregivers.
Cognitive symptoms include difficulties organizing thoughts, initiating or completing tasks, and problems with memory. Cognitive symptoms can impact the ability to complete routine daily activities.
Scientists believe that schizophrenia is caused by the combination of a genetic vulnerability and environmental insults that occur during a person’s development. The presence of a genetic vulnerability increases the chances of becoming ill. A child with one parent with schizophrenia is about 10 times more likely to get the disease than a child whose parents do not have the disease. Even in those with a genetic predisposition for the illness, it is known that additional (mostly unknown) environmental factors are required for development of the full illness.
New pharmacological and psychosocial interventions have led to a much better prognosis for many with the selection of medication based on clinical characteristics, and a family history of prior response. Family-based treatment interventions have also been successful. With optimal treatment, a person with schizophrenia may lead a productive and fulfilled life.
COE-N has conducted the largest systematic studies of schizophrenia in Latino subjects, through several grants funded by the NIMH and other agencies, such as the Howard Hughes Medical Institute and the National Alliance for Research in Schizophrenia and Depression. In 2007, our discovery of the location of the schizophrenia genes received regional and national coverage. Through this work, we are in the process of identifying specific genetic variants that contribute to causing schizophrenia in persons of Mexican and Central American ancestry. Later in 2007, our researchers presented findings at several national meetings regarding substance abuse and alcohol problems, depression, and childhood antecedents in Latinos who suffer from schizophrenia.
Bipolar disorder (previously referred to as manic depressive disorder) is a mood disorder that affects 0.4 to 1.6 percent of all people and is an illness of severe mood swings. Men and women get bipolar disorder in equal numbers and the disease is first usually seen in adults 18 and older, but can appear earlier.
Those that have been diagnosed with bipolar disorder have drastic and unexplainable moods, cycling between depression and mania.
Depression is most often accompanied by symptoms such as lack of energy, anxiousness, and changes in sleeping and eating behaviors. Many persons with bipolar disorder also experience suicidal tendencies, where they are occupied by thoughts of their own death. Symptoms may last every day for at least one week.
Manic behaviors are essentially the exact opposite. Patients may feel “on top of the world.” They are social, talkative, and experience a decreased need for sleep. Some people’s mania can also be presented as irritability with symptoms lasting day and night for several days. The switches in mood can happen every few hours or every few months.
People with bipolar disorder have very high rates of developing substance abuse and alcohol disorders.
Suicide is an especially tragic consequence of bipolar disorder and one in three persons with severe bipolar disorder attempt suicide at some point in their life.
Mood-stabilizing medications such as Lithium and behavioral therapy with case workers and psychiatrists work well for bipolar patients. In recent decades, new medications have been developed and are effective in treating bipolar disorder. With proper diagnosis and treatment, persons with bipolar disorder can live full and productive lives.
Research has shown that bipolar disorder has a strong genetic link. If a person has a first-degree relative (parent, sibling, and child) with bipolar disorder, they are approximately 20 times more likely to develop bipolar disorder during their lifetime than persons from the general population. Other forms of mood disorders, such as major depression, are also genetically related to bipolar disorder.
COE-N is working to locate the genes responsible for causing bipolar disorder. Our work focuses on the population of south Texas (all ethnicities) and on Latino populations throughout the Southwest United States, Mexico, and Central America. Through the present time, Escamilla and his colleagues have studied more than 500 families where a least one or more members suffer from bipolar disorder. COE-N heads an extensive research network throughout the southwest U.S., Mexico, Costa Rica, and Guatemala, to study this illness in families who have two or more cases.
COE-N research faculty, fellows, students, and staff have worked throughout these countries to advance our understanding of what causes bipolar disorder and how this illness effects persons from both Latino and non-Latino populations. Research participant’s DNA, combined with a personal account of their moods and behaviors, will assist the center in identifying the genes most important in contributing to bipolar disorder. This information along with knowledge of the environmental, psychological, and cultural stressors which cause this illness will help us better understand the biologic and social causes of the illness, and to develop better treatment and medications.
Major depression is the leading cause of disability in the United States and many other developed countries. It affects 15 million American adults and can significantly interfere with one’s thoughts, behavior, mood, activities, and physical health. The disease occurs more frequently in women than men and if left untreated can lead to increased frequency and severity of symptoms.
Symptoms can include a persistently sad or irritable mood; a pronounced change in sleep, appetite, and energy; difficulty thinking, concentrating, and remembering; feelings of guilt or hopelessness; lack of interest in activities once enjoyed; recurrent thoughts of death and suicide; and physical symptoms such as headaches, digestive disorders, and pain that does not respond to treatment. Psychological, biological, and environmental factors can all contribute to the cause of major depression, and there is evidence of a genetic predisposition to the illness. There is an increased risk of depression in those with a family history of the disease.
The illness is highly treatable through medication and psychotherapy. In the United States, persons from an ethnic minority background (Latinos, African Americans) are less likely to obtain proper diagnosis and treatment.
Persons with other psychiatric conditions (including schizophrenia, generalized anxiety disorder, panic disorder, and post-traumatic stress disorder) and medical disorders (including cardiovascular disease and diabetes) often also suffer from concurrent major depression.
Researchers from COE-N recently reported on the co-occurrence of depression in schizophrenia, and its relation to genes in the serotonin system at the 2007 Annual Society of Human Genetics Meeting in San Diego.
Post-traumatic stress disorder (PTSD) is an illness marked by a combination of mood problems, isolative behaviors, and heightened anxiety. This illness begins after acute exposure to an incident in which one’s life or bodily integrity is threatened. COE-N researchers are currently involved in understanding the genetic factors in this illness, through our studies of the United States military veterans with PTSD (STRONG STAR research consortium) and our studies of Guatemalan Indians who have suffered the effects of physical and psychological war trauma.
Alcoholism is the number one drug problem in the United States. Alcohol abuse is the excessive use of alcohol despite the impact it has on work, school, and home. Alcohol dependence is a more serious disorder and involves excessive use such as needing more alcohol to achieve the desired effect, drinking more over a longer period of time such as early morning drinking, and inability to cut down, spending a great deal of time recovering from its effects, and continued drinking despite knowing it has caused problems. Research has shown that alcoholism is genetic and tends to run in families though environment. Peer influences can also play a big role in alcoholism.
Substance abuse is the harmful use of psychoactive substances such as alcohol, prescription drugs, and illegal drugs. Repeated and prolonged use of these substances leads to dependence that is characterized by a continuous use of the substance despite the problems it may be causing physically and mentally. Prolonged use leads to tolerance of the drug and usually withdrawal symptoms if use ceases. Withdrawal ranges from mild anxiety to seizures and hallucinations. Substance abuse and dependence is often seen in persons who suffer from other mental illnesses such as bipolar disorder, schizophrenia, major depression, anxiety disorders, and post traumatic stress disorder.
Researchers at COE-N have presented important research documenting the extent of alcohol and substance abuse in Latino patients suffering from schizophrenia and bipolar disorder. Research by COE-N researchers has been presented at national meetings in Boston, San Antonio, and in Colorado. Among our findings are that increased exposure to and abuse of substances occurs sequentially with time of exposure to the United States. United States-born Mexican Americans have the highest rates of substance abuse, followed by immigrants, and (with the lowest incidence) Mexicans living in their native country. This may be a factor in exploring what is commonly called the Latino Paradox- that time spent in the United States correlates with increased mental health problems.
The Surgeon General Report documents the existence of several disparities affecting mental health care of racial and ethnic minorities compared with non-Latino whites. As a group, racial and ethnic minorities experience a greater disability burden from mental illness than do non-Latino whites.
Minorities have less access to mental health services. Minorities are less likely to receive needed mental health services and when in treatment often receive poorer quality of care. Research has found that compared with non-Latino whites, Latinos in the United States are more likely to underutilize mental health services, tend to use primary care providers when they seek help for emotional issues, and receive less guideline-compatible mental health care.
Barriers deter minorities from getting treatment. Some of these barriers also affect others including cost, fragmentation of services, lack of availability of services and stigma associated with mental health. However, minorities experience additional barriers both at the individual and organizational level. These include mistrust, differences in language and communication styles, discrimination, legal status, and cultural blindness in providers and health care services.
The recognition of health disparities is the first step. However, there is a need to take the next step and begin to access how disparities can be addressed. The latter is a slow and difficult process as it involves collaboration at many different levels.
Improving geographical access, fostering integration of primary care and mental health services, ensuring language access, development of outreach education programs utilizing culturally appropriate tools, including key community members as cultural brokers, providing cultural competence training to providers and organizations to eliminate bias are some of the potential venues that are beginning to be explored to initiate the process.
In the field of genetics, COE-N has played a major role in addressing disparities in genetic studies of mental illness in Latino populations. Prior to 2000, nationally-funded genetic studies of bipolar disorder or schizophrenia had been primarily of European American subjects and families. Through the organization of COE-N, our research team has been the primary contributor of DNA resources and clinical information to the national repository of the NIMH. Our research has been the first to identify the genetic loci of schizophrenia in persons of Mexican and Central American ancestry. As modern medicine moves rapidly to an age of personalized medicine (where medication treatment will be based on the ability to screen DNA and select the most efficacious treatment for a person), our center will be instrumental in development of these treatments for Latino patients.
COE-N programs provide a unique opportunity to inform the community and state organizations about specific issues on health care needs (psychiatric and general medical) in the San Antonio and south Texas areas. Faculty in our program have participated in the development of instruments to access ethnicity and language proficiency to be used across the community mental health centers in San Antonio. By assessing ethnicity/race and language proficiency in a standardized manner, organizations can identify staffing needs, evaluate treatment outcomes, and medication adherence that in turn helps improve services and reduces disparities. COE-N researchers are also studying the prevalence and treatment patterns of persons living in the Rio Grande Valley (over 90 percent of who are Latino). These studies are investigating the prevalence of psychiatric disorders and medical disorders, whether these have previously been diagnosed, what previous types of treatment have been received, where they were received, and how well current illnesses burden in families at state and national meetings and are also involved in national support organizations such as the National Alliance for the Mentally Ill (NAMI).
Our research training programs address another major health disparity. the lack of researchers and faculty of minority background. COE-N involves students from high school through the junior faculty level, and has as a primary goal of fostering the educational and career development of people who are interested in performing research, treatment, and teaching in the Latino population. COE-N thus serves as one of the few national pipelines for young Latinos/Latinas who wish to develop careers working in mental health.
Finally, a variety of projects are underway, or in the process of review, to evaluate the presence of general medical co-morbidities (diabetes, hypertension, obesity, hyperlipidemia) in patients with severe mental illness receiving treatment in the community setting. Some of these projects are currently underway in the Rio Grande Valley, a significantly underserved region.
The demographic characteristics of the United States population reveal an increased cultural diversity that has enriched the nation, but also brings the responsibility of ensuring that mental health services, as well as all health care services, are responsive regardless of cultural background. In the 2000 census, the number of Latinos counted was 35.3 million, roughly equal to the number of African Americans. As the Latino population surges we also see growth in illness, disease, and mental health. The Latino culture can impact the identification and communication of mental health symptoms.
Issues such as denial, embarrassment, and pride may get in the way of how to construe expressions of distress. Translations and language can get in the way of trust and can affect the disclosure of symptoms.
Psychosocial interventions may need to be adapted, help-seeking and health behaviors, coping styles, and beliefs about mental illness can be dramatically different when dealing with another culture.
There are a number of initiatives designed to include the requirements of teaching cultural competence in a wide variety of institutions; development of programs within grassroots organizations to address language and cultural issues; and needs assessments in states with a high percentage of Latinos. However, Latinos (as well as other minorities) are not well represented in most research studies. Consequently, there is a gap in translating many of the findings to this population.
Engaging the support of all stakeholders including providers, consumers, caregivers, grassroots organizations, and administrators at local and federal levels will help fill the gaps in service, research, training, and community leadership.
Our center has participated in the translation and cultural adaptation of instruments routinely used in psychiatric research including diagnostic and family interviews as well as in the development of new instruments for use in patients with bipolar disorder. Yearly training sessions have been conducted both in the United States and abroad. In addition, a variety of training tools such as DVD’s (Diagnostic Interview Schedule for Genetic Studies; Spanish and English versions; Family Interview Schedule for Genetic Studies; Spanish and English versions) have been developed.
COE-N faculty have participated in a number of Latino conferences presenting on issues such as Latino families’ knowledge of mental illness, substance abuse in schizophrenia, and antecedents of severe mental illness in the Latino population.
A cultural competence seminar series is part of the didactic training in the Psychiatric Genetic Fellowship. Cultural competence in research encompasses a body of knowledge, skills and attitudes about the culture of the research subject that facilitates dialogue, proficient communication and effective research. The series has three modules: “General Issues in Cultural Competency”; “Specific Latino Populations”; and “Cultural Issues in Research with Latino Populations.” Workshops have been conducted on “Ethics and Cultural Competency in Genetic Research.”
Our modern culture allows us to study natural human variation, using techniques including modern psychology, history, anthropology, evolutionary theory and molecular genetics, the way we think about “medical illnesses” is going through a transformation. Looked at from the perspective of evolution, many of the genetic variations contained within the human race may lead to positive outcomes or negative outcomes, depending on the environment. For instance, the variation that leads to sickle cell anemia, in its hemizygous form helps protect persons from the ravages of malaria. Many of the mutations in their homozygous form that cause cystic fibrosis may have helped protect hemizygote carriers from infections from cholera.
Mental illnesses, such as schizophrenia and bipolar disorder, are thought by some researchers, to be similar to other medical illnesses-i.e. the genes which predispose to these illnesses may, in less severe concentrations or in different environments, be associated with positive traits and outcomes. This is partially supported by studies by Kay Jamison and others that persons with bipolar disorder and their immediate relatives often have higher rates of creativity and artistic/literary success than the average population. COE-N is currently studying a variety of personality and creativity traits at the genetic level. Our hope is to help unravel the genes and gene variants that are associated with particular personality styles and psychological types. We also hope to gain insight into how "positive” traits such as creativity share genetic commonalities with “negative” traits such as schizophrenia and (in its severe, incapacitating form) bipolar disorder.
This research builds both on the work of the Swiss psychiatrist Carl Jung (who championed the theory that persons inherited specific personality types through a combination of biologic inheritance and early environmental experience) and statistical and experimental psychology studies of the last 70 years.
It is our hope that our current research in these areas will increase our understanding of how the healthy human mind works and to de-stigmatize the pathologization of aspects of our diverse human endowment.
COE-N has expanded our areas of research to include better understanding of psychiatric illnesses that effect children and adolescents. Our current studies include the early manifestations of bipolar disorder and schizophrenia in persons who go on to develop these diseases. Research on the antecedents of these diseases has been presented at national meetings sponsored by NIMH in Boston and Santa Fe.
Our group participates with a national consortium of researchers in pediatric bipolar disorder, to better develop our understanding of those who have early onset of bipolar disorder. We have also worked with children who suffer from chromosomal abnormalities, assessing psychiatric symptoms associated with those disorders, through collaboration with Dr Jannine Cody and is supported by private funding.
In collaboration with other researchers and UTHSCSA and with private autism foundations, we are in the process of developing research on the genetics of autism (recent findings suggest that many children who suffer from autism have genetic abnormalities which can now be detected thanks to new genomic technologies).
We have also studied the tendency of children and adolescents to use drugs and alcohol as a potential means of self medicating bipolar disorder and schizophrenia and are working on new protocols to better assess at risk children before they have developed substance abuse, legal, and psychiatric problems. Our current goal is to develop research that will help us better assess children who are at risk of developing a psychiatric disorder and to design prevention strategies to help them avoid the pitfalls of their illness.
We believe that having a genetic predisposition to develop a psychiatric illness is not a fatalistic position to be in. These genetic predispositions, if identified and treated early, may actually be positive traits that can lead to successful lives and career paths. With the additions to our staff of Dr. Ramirez and Dr. Zavala, both psychiatrists who completed fellowships in child psychiatry, we are now able to grow this important and understudied area of psychiatric genetics research in the Latino population.