Screen for MAOA mutations in target human groups.

Brunner et al. [1993: Am J Hum Genet 52: 1032-1039; 1993: Science 262:578-580] described males with an MAO-A deficiency state resulting from a premature stop codon in the coding region of the MAOA gene. This deficiency state was associated with abnormal levels of amines and amine metabolites in urine and plasma of affected males, as well as low normal intelligence and apparent difficulty in impulse control, including inappropriate sexual behavior. In the present study, disruption of the MAOA gene was evaluated in males with mental retardation with and without a history of sexually deviant behavior, as well as normal controls, healthy males, and patients with other diseases (Parkinson disease, Lesch-Nyhan syndrome). When available, plasma samples were evaluated first for levels of 3-methoxy, 4-hydroxyphenolglycol (MHPG), a metabolite of norepinephrine which serves as the most sensitive index of MAO-A activity in humans. Blood DNA from individuals with abnormally low MHPG, and from other individuals for whom metabolite levels were not available, were screened for nucleotide variations in the coding region of the MAOA gene by single-strand conformational polymorphism (SSCP) analysis across all 15 exons and splice junctions, and by sequencing, when indicated by either altered metabolites or SSCP shifts. No evidence for mutations disrupting the MAOA gene was found in 398 samples from the target populations, including institutionalized mentally retarded males (N = 352) and males participating in a sexual disorders clinic (N = 46), as well as control groups (N = 75). These studies indicate that MAOA deficiency states are not common in humans.

Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?

Lack of monoamine oxidase A (MAO-A) due to either Xp chromosomal deletions or alterations in the coding sequence of the gene for this enzyme are associated with marked changes in monoamine metabolism and appear to be associated with variable cognitive deficits and behavioral changes in humans and in transgenic mice. In mice, some of the most marked behavioral changes are ameliorated by pharmacologically-induced reductions in serotonin synthesis during early development, raising the question of possible therapeutic interventions in humans with MAO deficiency states. At the present time, only one multi-generational family and a few other individuals with marked MAO-A deficiency states have been identified and studied in detail. Although MAO deficiency states associated with Xp chromosomal deletions were identified by distinct symptoms (including blindness in infancy) produced by the contiguous Norrie disease gene, the primarily behavioral phenotype of individuals with the MAO mutation is less obvious. This paper reports a sequential research design and preliminary results from screening several hundred volunteers in the general population and from putative high-risk groups for possible MAO deficiency states. These preliminary results suggest that marked MAO deficiency states are very rare.

Simulated paraphilias: a preliminary study of patients who imitate or exaggerate paraphilic symptoms and behaviors.

In a consecutive series of admissions to the Johns Hopkins Sexual Disorders Unit, 4 out of 20 patients appeared to have simulated paraphilic symptoms that further assessment indicated were either exaggerated or not present. The paper presents case histories of these 4 patients. A descriptive comparison is made between these patients and control groups of patients who admitted having paraphilic symptoms and a group of patients accused of having paraphilic symptoms but who denied them. Patients who simulated paraphilias tended to be self-referred (75%) and without current legal charges (100%). None of these patients was referred or sought treatment for pedophilia, in contrast to the other two patient groups, in which pedophilia accounted for 75% of the referrals. Several possible explanations for why patients might simulate paraphilias and implications for therapists who evaluate or treat sex offenders are discussed.

Media distortion of the public's perception of recidivism and psychiatric rehabilitation.

OBJECTIVE: The public's perception about the success or failure of psychiatric rehabilitation is frequently dependent upon information received through the news media. The primary objective of this report is to present an example of how the news media can distort public perceptions of treatment outcome. METHOD: Verbatim quotations were presented from a television news series that alleged criminal recidivism by nine patients purportedly treated for various paraphilias at a large, community-based sexual disorders clinic. Brief case vignettes about each of the nine were then reviewed. This allowed for comparisons between what the media had alleged and what had actually occurred. RESULTS: Two of the nine cases were relatively minor instances of recidivism involving no genital contact, although the media presentation had either failed to report this or had suggested otherwise. A third case of alleged recidivism involved a patient who was evaluated but never actually treated by the clinic in the community. A fourth patient had refused recommended clinic treatment upon prison release, and a fifth patient had been discharged from treatment at the clinic because of noncompliance years before recidivating. Other cases presented contained additional misleading information. None of the nine cases was reported by the media in the context of a balanced approach that included treatment successes. Clinic staff were constrained from responding publicly to correct certain misinformation because of patient-psychiatrist privilege. CONCLUSIONS: Inaccurate media presentations about psychiatric rehabilitation that ignore treatment successes and focus only on alleged failures do a disservice to patients, mental health workers, and society at large.

Effects of statutes requiring psychiatrists to report suspected sexual abuse of children.

OBJECTIVE: Reporting of child sexual abuse is mandatory in all 50 states. Conceptual distinctions between privileged communications and mandatory reporting are reviewed, and the impact of recent changes in Maryland's reporting laws is examined. METHOD: Beginning in 1964 Maryland law required reporting if abuse was suspected when a physician examined a child. In 1988 reporting of disclosures by adult patients about child sexual abuse that occurred while they were in treatment was mandated. In 1989 all patient disclosures, even about such abuse that occurred before treatment, became reportable. During the period of statutory changes, the Johns Hopkins Sexual Disorders Clinic had kept track of adult patients who referred themselves for treatment and adult patients' disclosures of child sexual abuse. This allowed analysis of the impact produced by changes in the reporting requirements. RESULTS: 1) Mandatory reporting of disclosures about prior child sexual abuse deterred undetected adult abusers from entering treatment. The rate of self-referrals when such reporting became mandatory in 1989 dropped from approximately seven per year (73 over a 10-year period) to zero. This may have caused some unidentified children to remain at risk. 2) Mandatory reporting deterred patients' disclosures about child sexual abuse that occurred during treatment. In 1988 the disclosure rate during treatment dropped from approximately 21 per year to zero. This deprived clinicians of information important for early intervention. 3) Mandatory reporting failed to increase the number of abused children identified. The number identified secondary to such disclosures was zero. CONCLUSIONS: Optimal protection of children, as well as treatment for adult patients, may be better accomplished by legislation that supports options other than reporting.

Prevalence of HIV antibody among a group of paraphilic sex offenders.

Serum specimens from 77 paraphilic sex offenders in treatment at a major community-based sexual disorders clinic were examined for human immunodeficiency virus (HIV) infection. In addition to their paraphilic ("sexually deviant") activities, most patients had also had nonparaphilic sexual contacts with consenting adult partners. These patients had engaged in a variety of sexual behaviors that involved real or potential exchange of body fluids. In spite of that fact, data analysis revealed that none of the 77 paraphilic patients was seropositive for HIV infection as assessed by recombinant enzyme-linked immunosorbent assay (ELISA).

The paraphilias and Depo-Provera: some medical, ethical and legal considerations.

Paraphilic disorders are Axis I psychiatric afflictions. They are not acquired by volitional decision, but are manifested by the association of erotic arousal with unacceptable behavior or stimulae (e.g., children). Because paraphilic behavior occurs in the service of a biological drive, use of medication to suppress sexual appetite may constitute an adjunct in treatment. Medroxyprogesterone can be used to decrease unacceptable erotic urges and fantasies, with the intent of increasing self-control. Such treatment should not be forced upon an unwilling person. Conversely, persons should not be denied access to treatment by laws which deter seeking help, or because of incarceration, parole, or probation.

Effect of large-dose progesterone on plasma levels of lipids, lipoproteins and apolipoproteins in males.

Eleven men with sexual deviation syndrome were hospitalized for treatment with medroxyprogesterone acetate (Depo-provera). Plasma total cholesterol, triglycerides, high density lipoprotein (HDL) cholesterol, low density lipoprotein (LDL) cholesterol, apo A-I and LDL apo B were measured before and during Depo-provera treatment. Ten normolipidemic and one mildly hypertriglyceridemic patient with 117 +/- 17% ideal body weight were maintained on a regular hospital diet before and during the study. They received an average total dose of 1273 +/- 467 mg Depo-provera by im injections over a mean period of 17 +/- 6 days. In the whole group, Depo-provera significantly reduced the plasma total cholesterol by 12% (p less than 0.0005), triglycerides by 24% (p less than 0.005), LDL cholesterol by 13% (p less than 0.01), LDL apo B by 15% (p less than 0.05), and apo A-I by 7% (p less than 0.05). Total HDL cholesterol, HDL2 cholesterol and HDL3 cholesterol did not change significantly. Excluding from the data analysis a normolipidemic patient who had a significant weight loss during the study and the hypertriglyceridemic patient, the fall in apo A-I during Depo-provera treatment was no longer statistically significant. We conclude that short-term, pharmacological doses of progesterone significantly reduce plasma concentrations of cholesterol, triglycerides, LDL cholesterol, and LDL apo B in men.

Is there hypothalamic-pituitary-gonadal dysfunction in paedophilia? A pilot study.

The hypothalamic - pituitary - gonadal axis was evaluated in men with paedophilia and non-paedophilic paraphilia, and in normal male controls, by infusion of 100 mcg. of synthetic luteinising hormone-releasing hormone (LHRH). There were no significant differences among groups in age, height, weight, testosterone, baseline luteinising hormone (LH) and follicle stimulating hormone (FSH), and FSH response to LHRH. However, there was a significant difference between the paedophilic group and the other two groups in the LH response to LHRH. The paedophiles responded with a marked elevation of LH, when compared with the non-paedophilic paraphiliacs and controls. These data indicate a hypothalamic - pituitary - gonadal dysfunction in paedophiles.

Is there familial transmission of pedophilia?

A naturalistic, double-blind, family history comparison of sexual deviancy in the first degree relatives of inpatients with pedophilia and nonpedophilic paraphilia was done. Both proband groups were similar in demographic characteristics, except that pedophiles had a later onset of illness and were older during hospitalization. All patients were men. Sexual deviancy was found in 18.5 per cent of the families of paraphiliacs; only 3 per cent of a psychiatric control group had a family member with sexual deviancy. The preponderance of affected relatives were men. The types of sexual deviancy found in the families of the groups differed. Sexual deviancy among the pedophiles' families consisted of pedophilia. In families of nonpedophilic paraphiliacs, sexual deviancy was predominantly a paraphilia not involving children. These data suggest that pedophilia is familial; however, further studies are needed to delineate the manner of transmission. Nonetheless, pedophilia is found more frequently in families of pedophiles than in families of nonpedophilic paraphiliacs. This indicates specificity in the familial transmission. Thus pedophilia may be independent of the other paraphilias.

Treatment of sex offenders with antiandrogenic medication: conceptualization, review of treatment modalities, and preliminary findings.

Sexual deviation disorders, or paraphilias, are diagnosable psychiatric syndromes manifested by 1) recurrent fantasies about deviant sex, 2) intense associated cravings, and 3) stereotypic behavioral responses. Pedophiles seek out children in response to their erotic thoughts and urges, whereas exhibitionists expose themselves. Paraphiliac syndromes ordinarily follow a chronic course and may be associated with biological pathology, but etiological factors are poorly understood. Treatment becomes a consideration when the well-being or rights of others are compromised. Proposed treatments have included psychotherapy, behavior therapy, surgery, and medication. Medroxyprogesterone acetate, which reduces testosterone, may diminish sexual preoccupation and urges, making self-control easier.