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Barth syndrome

Barth syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It affects at least one hundred (~ 100) worldwide families. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait. The syndrome is believed to be severely under-diagonsed and estimated to occur in 1 out of approximately 200,000 births. more...

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The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery.

Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28; the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.

Barth Syndrome Foundation

The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is scheduled for early July, 2006 at Disney world in Orlando Fl. For more information contact the Barth Syndrome Foundation, Inc. at

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Compulsive sexual behavior: What to call it, how to treat it?
From SIECUS Report, 6/1/03 by Coleman, Eli

Like most behaviors, sex can be taken to extremes. It can become excessive, impulsive, obsessive, compulsive, driven, and distressing. Some people suffer with these behavioral problems to the point that it interferes with their daily lives.

Unfortunately, clinical sexologists appear unable to reach consensus on what to call or how to treat such sexual behavior. Terms used to describe this phenomenon include hypersexuality, erotomania, nymphomania, satyriasis, and, most recently, sexual addiction and compulsive sexual behavior. The terminology often implies different values, attitudes, and theoretical orientations, and we remain in a quagmire about classification, causes, and treatment.

DEBATE OVER CAUSE

Disagreement exists as to whether compulsive sexual behavior is an addiction, a psychosexual developmental disorder, an impulse control disorder, a mood disorder, or an obsessive compulsive disorder.

Patrick Carnes popularized the concept of compulsive sexual behavior as an addiction. He believes that people become addicted to sex in the same way they become addicted to alcohol or drugs. Although this theory has become popular in recent years, it remains quite controversial and many other theories exist.

Robert Barth and Bill Kinder have argued that compulsive sexual behavior is an impulse control disorder.1 Others have argued that it is a variation of an obsessive compulsive disorder.2 A relatively new hypothesis put forth by John Bancroft and Erick Janssen explains sexual disorders as dysregulations of our excitatory and inhibitory mechanisms.3

The more psycho-dynamically oriented theorists have described this syndrome as a psychosexual disorder.4 Heinz Kohut views it as a disorder of the self and an intimacy disorder.5 Sexologist John Money conceptualizes it as lovemap pathology-a developmental and psychosexual disorder resulting from deprivation in, or punishment for, normal sexual rehearsals in infancy and childhood and/or from childhood trauma or abuse that would impair love and love bonding.6 Money implicates cultural factors as well for potentially creating schisms between "love" and "lust" that result in the development of psychosexual disorders.7

While I have seen compulsive sexual behavior as an example of an "intimacy dysfunction" stemming from childhood abuse and trauma and highly restrictive attitudes about sexuality, I now view the behavior as having a multitude of causes and presentations.8

In my work and throughout this article, I use the term compulsive sexual behavior (CSB) to describe this syndrome. I chose this term in an attempt to find language that would describe the clinical phenomenon but leave open the possibility for multiple treatments. However, I recognize the limitations of this term, because the word compulsive is retained even though not all the behaviors of the syndrome are driven by obsessive-compulsive mechanisms.

While I continue to use the term compulsive sexual behavior, I hope it is understood that this is still a description of a set of symptoms waiting for a better term to replace it.

CLASSIFICATION OF COMPULSIVE SEXUAL BEHAVIOR

Compulsive sexual behaviors can be divided into two main types: paraphilic and nonparaphilic.

Paraphilic compulsive sexual behavior. Paraphilic behaviors are unconventional sexual behaviors that are obsessive and compulsive. They interfere with love relationships and intimacy.

In early editions of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM), these unconventional behaviors were referred to as sexual deviation.9 However, influenced by Moneys work, the term paraphilia was introduced into the classification of sexual disorders in the DSM-III.10 This term was viewed as more precise and non-pejorative. As a consequence, the classification is generally accepted within clinical sexology, but not without criticism.11

In the recent DSM-IV, paraphilias (or unconventional sexual behaviors) are defined as "recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving (1) nonhuman objects, (2) the suffering or humiliation of oneself or one's partner, or (3) children or other non-consenting persons." The definition goes on to explain, "The behavior, sexual urges, or fantasies cause clinically significant distress in social, occupational, or other important areas of functioning."12

Although Money has defined nearly 50 paraphilias, there are currently eight paraphilic disorders recognized in the DSM-IV: pedophilia, exhibitionism, voyeurism, sexual masochism, sexual sadism, fetishism, transvestic fetishism, and frotteurism.13

Some behaviors, such as sado-masochism, when they are consensual and do not impair life functioning, are not considered a paraphilia because they do not meet all of the diagnostic criteria.

Nonparaphilic compulsive sexual behavior. Nonparaphilic compulsive sexual behavior involves conventional behaviors which, when taken to an extreme, are recurrent, distressing, and interfere in daily functioning.

The DSM-IV describes one example under the heading of "Sexual Disorders Not Otherwise Specified" as "distress about a pattern of repeated sexual relationships involving a succession of lovers who are experienced by the individual only as things to be used."14 Other examples include: compulsive fixation on an unattainable partner, compulsive masturbation, compulsive love relationships, and compulsive sexuality in a relationship.15

Not all sexual behaviors that cause problems necessarily reach a diagnostic threshold. Nor are there well-established clinical criteria to define such behavior.16 In the past, we have used a slight alteration of the paraphilia diagnostic criteria. In my own thinking, I propose the following criteria to define nonparaphilic compulsive sexual behavior:

a. involves recurrent and intense normophilic (nonparaphilic) sexually arousing fantasies, sexual urges, and behaviors that cause clinically significant distress in social, occupational, or other important areas of functioning; and

b. is not due simply to another medical condition, substance use disorder, or a developmental disorder

It is important not to label "problems" prematurely and ignore intra-/inter-sociocultural considerations that might better explain the behavior. In developing diagnostic criteria, we must take the norms of gender, sexual orientation, and sociocultural groups into consideration.

BEHAVIORS IN CONTEXT

In fact, there are those who do not believe in sexual addiction or even in the idea of compulsive sexual behavior as a disorder. Their main criticism of these concepts is the possibility of overpathologizing behavior. They fear that the pathologizing of sexual behaviors (either by professionals or individuals) may be driven by anti-sexual attitudes and a failure to recognize the wide range of normal human sexual expression.

Individuals might think they are suffering from compulsive sexual behavior when, in reality they are experiencing behaviors that are part of sexual development, that are sexual problems but not compulsive, or that are simply in conflict with their values.

In order to avoid overpathologizing, it is important for professionals to be comfortable with a wide range of normal sexual behavior-both types of behavior and frequency of behavior. And it is important to look at all sexual behaviors in context.

Sexual development. Individuals might view some sexual behaviors as obsessive or compulsive when they do not view them within a developmental context. Adolescents, for example, can become "obsessed" with sex for long periods of time. Adults commonly go through periods when sexual behavior may take on obsessive and compulsive characteristics. Individuals might naturally become obsessed with their partner and feel compelled to seek out their company and to express affection in early stages of romance. These are healthy processes of sexual development and must be distinguished from compulsive sexual behavior.

Sexual problems. It is common for people to have sexual problems that are not pathological. People can make mistakes. They can at times act impulsively. Their behavior can cause problems in a relationship. Some people will use sex as a coping mechanism, just as they may use alcohol, drugs, or eating. These patterns of sexual behavior are sometimes problematic. They are often remedied by learning from mistakes or learning healthier forms of sexual expression. By its nature, the clinical syndrome of compulsive sexual behavior is much more resistant to change.

Conflict with values. Many patients identify that they have compulsive sexual behavior when it is more a matter of conflict over intrapersonal values. For example, they might view masturbation, oral sex, homosexual behavior, sado-masochistic behavior, or a love affair as compulsive because they disapprove of these behaviors.

It is, therefore, very important to distinguish between individuals who have a values conflict with their sexual behavior and those who engage in compulsive sexual behaviors. Similarly, individuals may have a conflict with their values and those of their partner, family, or culture. Sometimes the problem is a matter of interpersonal or intercultural conflict.

TREATMENT

While we are still in search of a consensus of terminology, cause, and diagnostic criteria, it is important to recognize that there are a number of types, patterns, and manifestations of compulsive sexual behavior. It is prudent to look at this as a syndrome that calls for a variety of treatment approaches.

12-step groups. For those who view compulsive sexual behavior as an addiction, 12-step groups modeled on Alcoholics Anonymous (AA) are a logical place to turn for treatment. There are a plethora of self-help groups such as Sexual Addicts Anonymous (SAA), Sex and Love Anonymous (SLA), and Sexaholics Anonymous (SA). Each is modeled after AA and each uses the 12 steps and traditions of AA as a basic philosophy and guide.

There are reports that this approach is successful.17 In fact, there are many people who seek help only through such groups. Certain practitioners base their treatment on this methodology, or use these groups as an adjunct to their treatment.18

This method, however, remains controversial. Many feel that the "abstinence model" useful for alcoholics cannot be applied to sexuality since sexual expression is a basic need of life. Critics view the abstinence solution as an oversimplification of compulsive sexual behavior and potentially dangerous when proper medical and psychological treatment is not provided.

While I have argued about the dangers of the "addiction model" and 12-step groups,19 my clinical experience has shown that some patients find these groups extremely helpful as an adjunct to treatment and that others find them neutral or problematic. In addition, many patients find the term "addiction" a useful metaphor to describe their problem.

Although I still have concerns about the "addiction model" and 12-step groups, I do not see 12-step groups under professional guidance as necessarily incompatible or harmful. Obviously, we are in need of more rigorous study of the effectiveness of these groups.

Psychotherapy. There are a number of psychotherapeutic treatment models. Again, given diagnostic considerations, it is important that we consider such treatment on an individual basis.

My colleagues and I have found that group therapy, augmented with individual and family therapy, has been very effective as a cornerstone of treatment.22 However, we also individualize treatment plans within the group. And, certainly, not all patients should be treated in group, given diagnostic considerations.

My colleagues and I have also found a high rate of personality disorders in our patients - certainly a variety of personality disorder traits that are intertwined in their management or mismanagement of interpersonal relationships. Psychotherapy can prove very helpful in uncovering the sources of these management strategies and helping patients to learn more adaptive management mechanisms.

Treatment should also go beyond the removal or reduction of symptoms and help individuals learn new skills in psychosexual functioning. Beyond control of the affective states (especially anxiety and depression), in many cases more emphasis needs to be placed on addressing basic identity and intimacy functioning. Many of our patients with long-standing patterns of dysfunctional sexual behavior know very little about healthy sexuality and intimacy. Thus, a large part of treatment and after care should focus on developing a positive and healthy sexuality.

Pharmacology. There are a number of pharmacologic treatments that have proved effective in clinical case studies.20 Antidepressants that selectively act on serotonin levels in the brain are effective in reducing sexual obsessions and compulsions and their associated levels of anxiety and depression. The newer medications interrupt the obsessive thinking and help patients control urges to engage in CSB. They also help patients use therapy more effectively. Medications that suppress the production of male hormones (antiandrogens) can also be used to treat a variety of paraphilic disorders.

John Bradford has developed an algorithm of pharmacologic treatment of paraphilic compulsive sexual behavior based upon his clinical experience in treating sexual offenders and support from the clinical literature.21 It relies heavily on the use of SSRIs (Selective Serotonin Reuptake Inhibitors) in mild cases and on antiandrogen treatment in extreme cases.

We are in need of a similar algorithm for nonparaphilic compulsive sexual behavior. While the antiandrogens could be used in more severe cases, there are a variety of other medications and combinations of medications which could be used to control less severe cases. Although the behavior may be distressing, it does not involve sexual offending behavior. Therefore, I have significant concern about the use of antiandrogens to control nonparaphilic CSB because of side effects and the fact that it also suppresses normophilic functioning, which we are interested in enhancing. We need to look at the effectiveness of other regimens with less potential problems of side effects and those that will not interfere in normophilic functioning.

Fortunately, there is now an array of pharmacologic treatments proven effective in clinical case studies. However, we are still in desperate need of controlled clinical trials in order to develop a more evidenced-based clinical approach to pharmacologic treatment.

CONCLUSION

A challenge remains to understand nonparaphilic compulsive sexual behavior, find where this clinical syndrome fits in our classification of sexual disorders, determine clear diagnostic criteria, and find effective treatment approaches.

While the debate over the past few decades has been helpful, we are in desperate need of more research. Meanwhile, we must learn to recognize this clinical syndrome in individuals and know when to apply the appropriate methodology based upon our best available scientific understanding of the complexity of possible causes and treatments.

References

1. R. J. Barth and B. N. Kinder, "The Mislabeling of Sexual Impulsivity," Journal of Sex and Marital Therapy, vol. 13, 1987, pp. 15-23.

2. M. A. Jenike, "Obsessive-compulsive and Related Disorders," New England Journal of Medicine, vol. 321, 1989, pp. 539-41; E. Coleman, "Compulsive Sexual Behavior: New Concepts and Treatments," Journal of Psychology and Human Sexuality, vol. 4, 1991, pp. 37-52; E. Coleman, "Is Your Patient Suffering from Compulsive Sexual Behavior?," Psychiatric Annals, vol. 22, no. 6, 1992, pp. 320-25; E. Coleman, "Treatment of Compulsive Sexual Behavior," In R. C. Rosen and S. R. Leiblum (Eds.). Case Studies in Sex Therapy (New York: Guilford Publications, 1995), pp. 333-49.

3. J. Bancroft, "Individual Difference in Sexual Risk Taking by Men-A Psycho-socio-biological Approach." In J. Bancroft (Ed.). The Role of Theory in Sex Research (Bloomington, IN: Indiana University Press, 2000), pp. 177-212; J. Bancroft and E. Janssen, "The Dual Control Model of Male Sexual Response: A Theoretical Approach to Centrally Mediated Erectile Dysfunction," Neuroscience and Biobehavioral Review, vol. 24, pp. 571-79.

4. S. B. Levine, "A Modern Perspective on Nymphomania," Journal of Sex and Marital Therapy, vol. 8, 1982, pp. 316-24; R.J. Stoller, Perversion: The Erotic Form of Hatred (New York: Pantheon, 1975).

5. H. Kohut, The Restoration of the Self (New York: International University Press, 1977).

6. J. Money, Love and Love Sickness: The Science of Sex, Gender Difference and Pairbonding (Baltimore: The Johns Hopkins University Press, 1980); J. Money, Lovemaps: Clinical Concepts of Sexual/Erotic Health and Pathology, Paraphilia, and Gender Transposition in Childhood, Adolescence, and Maturity (New York: Irvington Publishers, 1986).

7. J. Money, (1986). Lovemaps: Clinical Concepts of Sexual/Erotic Health and Pathology, Paraphilia, and Gender Transposition in Childhood, Adolescence, and Maturity (New York: Irvington Publishers, 1986).

8. E. Coleman, "Sexual Compulsivity: Definition, Etiology, and Treatment Considerations, In E. Coleman (Ed.),Chemical Dependency and Intimacy Dysfunction (New York: The Haworth Press, Inc., 1987).

9. R. J. Stoller, Perversion: The Erotic Form of Hatred. (New York: Pantheon, 1975); Diagnostic and Statistical Manual of Mental Disorders (2nd Edition) (Washington, DC: American Psychiatric Association, 1968).

10. Diagnostic and Statistical Manual of Mental Disorders (Second Edition) (Washington, DC: American Psychiatric Association, 1968); Diagnostic and Statistical Manual of Mental Disorders (Third Edition) (Washington, DC: American Psychiatric Association, 1980).

11. Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) (Washington, DC: American Psychiatric Association, 1994).

12. Ibid., pp. 522-523.

13. Ibid.

14. Ibid., p. 538.

15. E. Coleman, "Is your patient suffering from compulsive sexual behavior?" Psychiatrics Annals, vol. 22 (6), 1992, pp. 320-425.

16. A. Goodman, Sexual Addiction: An Integrated Approach (Madison, CT: International Universities Press, 1998).

17. M. Hunter, Hope and Recovery: A Twelve Step Guide to Overcoming Compulsive Sexual Behavior (Minneapolis: CompCare Publishers, 1991); Carnes, P. Don't Call it Love: Recovery from Sexual Addiction. (New York: Bantam Doubleday Publishing Group, Inc. 1992).

18. P. Carnes, Out of the Shadows: Understanding the Sexual Addict (Minneapolis: CompCare Publishers, 1983).

19. E. Coleman, "Sexual Compulsivity vs. Sexual Addition: The Debate Continues," SIECUS Report, vol. 7, no. 11, July 1986; E. Coleman, "Sexual Compulsivity: Definition, Etiology, and Treatment Considerations," In E. Coleman (Ed.), Chemical Dependency and Intimacy Dysfunction (Binghamton, NY: The Haworth Press, Inc., 1987); E. Coleman, "The Obsessive-compulsive Model for Describing Compulsive Sexual Behavior," American Journal of Preventive Psychiatry and Neurology, vol. 2, no. 3, 1990, pp. 9-14.

20. J. M. Bradford and A. Pawlak, "Double-blind Placebo Crossover Study of Cyproterone Acetate in the Treatment of the Paraphilias," Archives of Sexual Behavior, vol. 22, no. 5, 1993, pp. 383-402; J. Cesnik and E. Coleman, "Use of Lithium Carbonate in the Treatment of Autoerotic Asphyxia," American Journal of Psychotherapy, vol. 43, no. 2, 1989, pp. 277-86; A. J. Cooper, "A Placebo-controlled Trial of the Antiandrogen Cyproterone Acetate in Deviant Hypersexuality," Comprehensive Psychiatry, vol. 22, no. 5, 1981, pp. 458-65; E. Coleman, J. Cesnik, A. M. Moore, and S. M. Dwyer, "Exploratory Study of the Role of Psychotropic Medications in the Psychological Treatment of Sex Offenders," Journal of Offender Rehabilitation, vol. 44, no. 2, 1992, pp. 204-17; J. P. Fedoroff, "Buspirone Hydrochloride in the Treatment of Transvestic Fetishism," Journal of Clinical Psychiatry, vol. 49, no. 10, 1988, pp. 408-9; J. P. Federoff, "Serotonergic Drug Treatment of Deviant Sexual Interests," Annals of Sex Research, vol. 6, 1993, pp. 105-21; M. P. Kafka, "Successful Treatment of Paraphilic Coercive Disorder (a Rapist) with Fluoxetine Hydrochloride," British Journal of Psychiatry, vol. 158, 1991, pp. 844-47; M. P. Kafka, "Successful Antidepressant Treatment of Nonparaphilic Sexual Addictions and Paraphilias in Males, Journal of Clinical Psychiatry, vol. 52, no. 2, 1991, pp. 60-65; M. P. Kafka and R. Prentky, "Fluoxetine Treatment of Nonparaphilic Sexual Addictions and Paraphilias in Men," Journal of Clinical Psychiatry, vol. 53, no. 10, 1992, pp. 351-58; D. J. Stein, E. Hollander, D. T. Anthony, F. R. Schneier, B. A. Fallon, M. R. Liebowitz, and D. F. Klein, "Serotonergic Medications for Sexual Obsessions, Sexual Addictions and Paraphilias," Journal of Clinical Psychiatry, vol. 53, no. 8, 1992, pp. 267-71; N. C. Raymond, B. Robinson, C. Kraft, B. Rittberg, and E. Coleman, "Treatment of Pedophilia with Leuprolide Acetate: A Case Study," Journal of Psychology and Human Sexuality, vol. 13, nos. 3 and 4, 2001, pp. 79-88; N. C. Raymond, J. E. Grant, S. W. Kim, and E. Coleman, "Treatment of Compulsive Sexual Behavior with Naltrexone and Serotonin Reuptake Inhibitors: Two Case Studies," International Clinical Psychopharmacology, vol. 17, 2002, pp. 201-5; F. Thibaut, B. Cordier, and J. M. Kuhn, "Effect of a Longlasting Gonadotrophin Hormone-releasing Hormone Agonist in Sex Cases of Severe Male Paraphilia," Acta Psychiatrica Scandinavica, vol. 87, 1993, pp. 455-60; F. Thibaut, B. Cordier, and J. M. Kuhn, "Gonadotrophophin Hormone Releasing Hormone Agonists in Cases of Severe Paraphilia: A Lifetime Treatment?," Psychoneuroendocrinology, vol. 21, no. 4, 1996, pp. 411-19; P. Briken, E. Nika, and W. Berner, "Treatment of Paraphilia with Leutinizing Hormone-releasing Agonists," Journal of Sex & Marital Therapy, vol. 27, no. 1, 2001, pp. 45-55.

21. J. M. Bradford, "Treatment of Sexual Deviation Using a Pharmacologic Approach," Journal of Sex Research, vol. 37, no. 3, 2000.

22. E. Coleman, S. M. Dwyer, G. Abel, W. Berner, J. Breiling, R. Eher, J. Hindman, R. Langevin, T. Langfeldt, M. Miner, F. Phafflin, and P. Weiss, "Standards of Care for the Treatment of Adult Sex Offenders," Journal of Psychology and Human Sexuality, vol. 11, no. 3, 2000, pp. 11-17; E. Coleman, T. Gratzer, L. Nesvacil, and N. Raymond, "Nefazodone and the Treatment of Nonparaphilic Compulsive Sexual Behavior: A Retrospective Study," Journal of Clinical Psychiatry, vol. 61, 2000, pp. 282-84.

Eli Coleman, Ph.D.

Professor and Director of the Program in Human Sexuality

Department of Family Practice and Community Health

University of Minnesota Medica School

Minneapolis, MN

SIECUS Report readers can reach Dr. Coleman at the Medical School, University of Minnesota, Program in Human Sexuality, 1300 South Second Street, Suite 180, Minneapolis, MN 55454. His e-mail address is colem001@umn.edu -Editor

Copyright Sex Information and Education Council of the U.S. Jun/Jul 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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