Specific genetic syndromes affect individuals' sexual development, experiences, and fertility. Individuals with specific syndromes can also display inappropriate sexual behavior resulting from vulnerabilities presented by their genetic makeup. Using clinical case studies, we discuss the specific impact that Down, Prader–Willi, and Williams syndromes can have on sexual development and behavior. Applying a biopsychosocial approach, we present the primary sexual effects, such as delayed sexual development and infertility. These genetic syndromes are also associated with challenges that are not specifically sexual in nature but that affect sexual expression, such as self-injury, mental health issues, or epilepsy. Medication side effects are also discussed. We conclude with treatment recommendations for individuals with sexual challenges, considering the unique effects of these three syndromes on sexuality.
People with a developmental disability are more likely to have psychological and medical challenges, including genetic disorders that affect their sexual development, experiences, and fertility (Griffiths, Richards, Fedoroff, & Watson, 2002). These challenges may be unique to a specific syndrome (e.g., polyembolokoilamania and Smith-Magenis syndrome; extreme self-injury in Lesch-Nyhan syndrome) or more general (e.g., inhibited sexual desire). Furthermore, people with a developmental disability can appear paraphilic because of “counterfeit deviance” (Hingsburger, Griffiths, & Quinsey, 1991). For example, individuals with Prader–Willi syndrome may display inappropriate sexual behavior as a result of social skills deficits, and individuals with Williams syndrome may commit crimes in part because of the impulsivity associated with this condition (Fedoroff & Richards, 2010). Self-esteem issues are also important. For instance, males with Prader–Willi syndrome have hypogonadism (Schulze, Mogensen, Himborg-Petersen, Graem, & Brondum-Lielsen, 2001), which results in decreased production of sex hormones, in turn delaying puberty. This delay often causes them to have a decreased sense of self-worth resulting from feeling and looking different from their peers, and it can affect how they respond to sexuality education programs.
Sexual health is a basic human right of all people, including individuals with developmental disability (Richards et al., 2009). In this article, we use three genetic disorders to illustrate how people with disability caused by specific genetic mechanisms benefit from an assessment that includes medical, behavioral, social, and individualized analyses.
Applying a Biopsychosocial Model
From (at least) the time of Sir William Olser, experts have expressed concerns about reliance on a simplistic biomedical model to understand problems encountered by people with developmental disability (Griffiths & Gardner, 2002). Engel (1977) revived an older, more holistic view of health, the biopsychosocial (BPS) model. The BPS perspective is both a conceptual model and a practical approach applied to understanding the determinants and outcomes of an individual's medical disorder and that person's reaction to the condition in the world in which that person lives (Kaplan & Coogan, 2005). In other words, an individual's biological (e.g., genetic), psychological (e.g., emotions and behaviors), and sociocultural (e.g., peers, sex education) factors all dynamically interact. A key component of this approach is that both psychological and social aspects must also be considered, in addition to anatomical and physiological concerns. For more than a century, the BPS model has been applied to various fields in the social sciences, including medicine, psychology, and social work (Kaplan & Coogan, 2005), and it has significantly influenced a shift in thinking from a primarily disease-oriented framework to a health and wellness framework. Such a framework is essential when addressing the sexuality concerns of individuals with developmental disability and specific genetic conditions.
In the next section, we present a BPS approach to sexuality, highlighting the primary and secondary biological effects of Down, Prader–Willi, and Williams syndromes on sexuality from both the literature and our clinical experiences. A primary effect is the result of the clinical diagnosis (e.g., delayed puberty in Prader–Willi syndrome), which can lead to a vulnerability to secondary disabilities (Streissguth et al., 2004). Although debate has occurred in the literature about how to define secondary disabilities (Koritas & Iacono, 2011), commonalities in definitions are that they are preventable impairments preceded by the primary disability, vary in how and when they are expressed, and have the potential to increase the severity of the primary disability (Turk, 2006). Secondary disabilities may be prevented or mitigated by a better understanding of the primary clinical issues and appropriate interventions. Finally, we conclude the article by presenting a BPS approach to treatment, highlighting medications and targeted therapies or social skills training for specific sexuality concerns.
Brief Overview of Down, Prader–Willi, and Williams Syndromes
Down syndrome is typically caused by a partial or complete trisomy of chromosome 21 (Chase, Osinowo, & Pary, 2002) and is the most common genetic cause of intellectual impairment, affecting approximately one of every 600 live births (Devlin & Morrison, 2004). Physical characteristics of Down syndrome are growth retardation, congenital heart disease, typical facial features including epicanthal folds, and hypotonia (Roberts, Price, & Malkin, 2007). Cognitive functioning varies from close to normal intelligence to severe developmental delay, and individuals with Down syndrome have specific speech and language deficits, such as language production, syntax, and poor intelligibility of speech (Roberts et al., 2007). Relative strengths of individuals with Down syndrome include visual–spatial skills (compared with their verbal or auditory skills) and their sociable, charming personalities (Dykens, Hodapp, & Finucane, 2000)
Prader–Willi syndrome is one of the most common microdeletion syndromes, caused by genetic alterations on the 15th chromosome (Cassidy & Driscoll, 2009). The incidence of Prader–Willi syndrome is one in 10,000–15,000 (Cassidy & Driscoll, 2009). This syndrome can also be typified by a distinctive behavioral phenotype, characterized by tantrums, skin picking, and compulsive behavior (Dimitropoulos, Feurer, Butler, & Thompson, 2001). Individuals with Prader–Willi syndrome are also typically hypotonic in infancy and have short stature, developmental delay, and intellectual disability; struggle with overeating and hyperphagia; and have hypogonadism (Cassidy, 1997; Dykens et al., 2000). People with Prader–Willi syndrome also show relative strengths, including a nurturing trait toward animals and others, solving jigsaw puzzles (for some), and persistence in getting tasks done (Dykens et al., 2000).
Williams syndrome is an autosomal genetic disorder, typically caused by a microdeletion on chromosome 7q11.23, with an incidence of one in every 25,000 live births (Levy, Smith, & Tager-Flusberg, 2003). Williams syndrome is characterized by a typical facial appearance, cardiovascular and renal abnormalities, dental malformation, hypercalcemia, and mild to moderate intellectual disability (Dykens et al., 2000). Individuals also demonstrate poor social relationships, overfriendliness, social disinhibition, and anxiety and distractibility (Einfeld, Tonge, & Rees, 2001). Relative strengths for people with Williams syndrome include facial recognition, linguistic abilities (i.e., basic vocabulary, affect, syntax), empathy, and musicality (Dykens et al., 2000).
Primary Biological Effects on Sexuality
According to the BPS model, biomedical issues include medical conditions, psychiatric diagnoses, medication responses, and psychological and neurological states (Griffiths & Gardner, 2002. Many genetic disorders, for example, are associated with endocrine (hormone) problems, which may involve altered levels of testosterone, resulting in sexually related bodily changes. Some studies have found gonadal insufficiency in males with Down syndrome (Arnell, Gustaffson, Ivarsson, & Anneren, 1996; Hsiang, Berkovitz, Bland, Migeon, & Warren, 1987) as a contributing factor to infertility, but not all demonstrate progressive gonadal failure (Hsiang et al., 1987). Individuals with Prader–Willi syndrome have low gonadotropic hormones (Schulze et al., 2001), which often cause hypogonadism and decreased production of testosterone. From a biomedical perspective, the important issues involve changes in structure (anatomy) and function (physiology) of the individual, such as possible cryptorchidism, precocious or delayed puberty, menstrual issues, and fertility concerns.
A possible physical sexual effect of some genetic syndromes is cryptorchidism (undescended testes). Cryptorchidism is present in 25%–50% of males with Down syndrome (Cooley & Graham, 1991) and 80%–90% of males with Prader–Willi syndrome (Cassidy & Driscoll, 2009). Undescended testicles are a risk factor for testicular cancer (Moller, Cortes, Engholm, & Thorup, 2005; Swerdlow, Higgins, & Pike, 1997).
Age of Puberty
Because of low gonadotropic hormones, males with Prader–Willi syndrome have delayed or incomplete sexual maturation; therefore, the increase in penis size that typically occurs at puberty is decreased or delayed. Adolescents with Prader–Willi syndrome may experience absent or delayed puberty, with menarche among females occurring as late as the 30s (Cassidy & Driscoll, 2009); however, precocious development of pubic and anxillary hair frequently occurs as a consequence of premature adrenarche (increased adrenal androgen production; Butler, Hanchett, & Thompson, 2006).
Penis size may increase modestly during men's 30s or 40s, but testicular size remains small (Butler et al., 2006), and males with Prader–Willi syndrome often have a hypoplastic penis and scrotum (Butler et al., 2006). Although hypogonadism is more marked in males with Prader–Willi syndrome, females also have incomplete sexual maturation and low gonadotropic secretions (Schulze et al., 2001). Hypoplastic labia minora and clitoris are often not diagnosed in females with Prader–Willi syndrome, potentially resulting in misdiagnosis of important contributors to the cause of sexual dysfunction among this population (Butler et al., 2006).
Some individuals with developmental disability experience precocious (early) puberty. Siddiqi (1999) found that many individuals with intellectual disability experienced early pubertal development. Their sample included individuals with various genetic disorders, as well as many individuals with cerebral palsy. Precocious sexual maturation in individuals with Down syndrome is perhaps related to hypothyroidism (Cooley & Graham, 1991), and evidence exists that early pubertal onset in individuals with Williams syndrome is the result of hypothalamic–pituitary activation (Cherniske, Sadler, Schwartz, Carpenter, & Pober, 1999). Mean pubertal timing is approximately 11.5 years for individuals with Williams syndrome (Partsch et al., 2002), compared with a mean age of 12.9 years for unaffected girls. In one study, 83% of pubertal boys showed pubic hair development and 90% of menstruating girls reached menarche before age 12 (Cherniske et al., 1999).
Menstruation is often affected in females with genetic syndromes. Approximately 70% of females with Prader–Willi syndrome have amenorrhea (Butler et al., 2006). Females with Williams syndrome may have difficulty coping with menstruation, often showing outbursts of anger during their menses (Udwin & Yule, 1998). Females with Down syndrome may have menorrhagia (abnormally heavy periods), often associated with hypothyroidism (Mason & Cunningham, 2008). Early menopause has also been documented in women with Down syndrome (Schupf et al., 1997; Seltzer, Schupf, & Wu, 2001).
Sterility and Fertility
Sterility or reduced fertility is common in many genetic disorders. Males with Down syndrome are often sterile (Cooley & Graham, 1991) because of decreased spermatogenesis (Johannisson et al., 1983; Pradham, Dalal, Khan, & Agrawal, 2006), decreased gonadal functioning (Arnell et al., 1996; Hsiang et al., 1987), or both.
However, three reported pregnancies were fathered by men with both trisomy 21 and mosaic Down syndrome (Pradham et al., 2006). Females with Down syndrome have lower fertility, with only 40% demonstrating ovulation as assessed by vaginal smears (Cooley & Graham, 1991); however, estimates range for fertility (Cooley & Graham, 1991; Van Dyke, McBrien, & Sherbondy, 1995). Typically, individuals with Prader–Willi syndrome have infertility, but at least four cases of women with Prader–Willi syndrome bearing children have been reported (Schulze et al., 2001).
Disabilities Not Specific to Sexuality but That Can Affect Sexual Expression
Individuals with developmental disability may also present with primary biological abnormalities that do not specifically affect their sexuality; however, many of these conditions may indirectly affect sexual expression. Several of these conditions are psychiatric disorders, and individuals with developmental disability are known to be at greater risk of having multiple physical and psychiatric diagnoses (Bradley & Burke, 2002). Some examples of mental health diagnoses, signs, and symptoms that may affect sexuality are mood disorders, obsessive–compulsive behavior, and impulsivity. Self-injury is also associated with many syndromes; self-injury resulting from a genetic condition (e.g., Prader–Willi syndrome) may be misdiagnosed as a sexually motivated behavior in many individuals with a variety of nonsexual disability. Individuals with genetic disorders may also have other biomedical conditions such as epilepsy or vulnerability to frequent urinary tract infections that have significant effects on sexual expression.
Mood disorders such as depression can affect sexual interest or desire. Major depression, for example, is typically associated with a significant reduction from previous levels of sexual interest (American Psychiatric Association, 2000); however, in Bancroft, Janssen, Strong, and Vukadinovic's (2003) sample of gay men, depressed men reported more sexual activity than those who were not depressed. Major depression is relatively common among those with Down syndrome (Levitas, Dykens, Finucane, & Kates, 2007).
Obsessions and compulsions are common vulnerabilities in several genetic disorders. Although not always about sexuality, this tendency for obsessive thoughts or compulsive behavior may center on sex themes. Individuals with Down, Prader–Willi, and Williams syndromes are all vulnerable to compulsive behaviors (Levitas et al., 2007). Klein-Tasman and Albano (2007) spoke specifically of obsessive sexual thoughts regarding the sexual activities of fellow students in an individual with Williams syndrome, who then experienced compulsive urges to verbally condemn others' sexual behavior.
Impulsivity is another common vulnerability in many genetic disorders. Although not specific to sexuality, impulsive behavior may present in a sexual manner, for example, apparent inability to refrain from touching a stranger. Individuals with Prader–Willi (Dykens & Smith, 1998) and Williams (Dykens & Rosner, 1999) syndromes often present with problematic impulsive behaviors. Impulsivity is addressed later in the case studies.
Self-injury is relatively common in many genetic syndromes associated with developmental disability. Not all self-injurious behavior is sexual in nature or involves the sexual organs, but many individuals with disorders associated with self-injury injure their rectums or vaginas. Self-injurious behavior is common among people with Prader–Willi syndrome (Butler et al., 2006); people with Prader–Willi syndrome mostly engage in skin picking (82%), but Butler et al. (2006) reported that 6% of individuals also engage in rectal picking and digging.
Seizures are caused by cerebral pathophysiology, which may be associated with developmental disability. This association increases from 30% of people with mild cognitive dysfunction to 50% of people with severe cognitive impairment (Richardson, Katz, Koller, McLaren, & Rubinstein, 1979).
Alteration in sexual behaviors has been associated with damage to the orbitofrontal region of the brain (Malloy & Richardson, 2001) and the temporolimbic area (Trimble, Mendez, & Cummings, 2005). Seizures are associated with many genetic disorders, including Prader–Willi syndrome (Cassidy & Driscoll, 2009) and Down syndrome (Thiel & Fowkes, 2004). People with seizure disorders may experience changes in interest or behavior before having a seizure (preictal), during the seizure (ictal), after the seizure (postictal), or between seizures (interictal). During partial complex seizures, individuals may engage in automatic behaviors that may include touching, lip smacking, or disrobing. Although most descriptions of people with temporal lobe epilepsy have noted a decrease in sex drive, recurring case reports have also noted altered sexual interest, especially fetishistic interests including transvestic fetishism (Daniele et al., 1997). Analysis of the effects of seizure disorders on sexual behaviors is complicated by the fact that seizures are associated with transient elevations in prolactin, which can suppress sex drive. In addition, many of the medications used to treat seizure disorders are associated with inhibition of sex drive and other sexual dysfunctions such as erectile dysfunction (Mitchell & Popkin, 1983).
Secondary Biological Effects on Sexuality
Secondary disabilities are impairments that are preceded by the primary disability and are therefore conceivably preventable (Turk, 2006). In the case of biological effects, the sexuality of individuals with genetic syndromes may be affected by medications prescribed to treat their primary medical concerns. For example, anticholinergic medications may cause vaginal dryness (Saad et al., 1999) and therefore primarily or secondarily affect sexual interest (Crenshaw & Goldberg, 1996; Griffiths et al., 2002; Mitchell & Popkin, 1983). Some genetic disorders, such as Williams syndrome (Udwin & Yule, 1998), are associated with increased frequency of urinary tract infections, which may then present sexuality issues including pain during intercourse or genital self-touching (as opposed to masturbation) in public.
People with developmental disability may also develop erotophobia, defined as fear of one's own genitals, negative reactions to sexual acts or sexual discussions, denial of one's developing sexuality, and self-punishment for sexual thoughts or behavior (Griffiths et al., 2007). Hingsburger (1992) suggested that the sexuality of these individuals has been controlled or suppressed for such a long time that they have been conditioned to react negatively to anything sexual. Sexual repression may emerge as a result of this phobia. Erotophobia is not specific to any one specific diagnosis. Instead, it may occur in any person with a developmental disability secondary to societal attitudes toward the sexuality of individuals with disabilities.
Another secondary biological effect is decreased sex drive resulting from pharmaceutical treatments. People with developmental disability, genetic syndromes, or both are more likely to be prescribed multiple medications. Between 20% and 50% of institutionalized people with a disability receive psychotropic medication (Deb & Fraser, 1994). The incidence of adverse side effects of all types, including adverse sexual side effects, increases exponentially with the number and dosages of medications. Sexual side effects of medications commonly prescribed to people with developmental disability have been reviewed elsewhere (e.g., Griffiths et al., 2002) and more comprehensively in other publications (e.g., Crenshaw & Goldberg, 1996).
The Diagnostic and Statistical Manual of Mental Disorders (4th ed., text. rev.; American Psychiatric Association, 2000) is unhelpful in classifying sexual dysfunctions resulting from medications because the primary sexual dysfunctions associated with medications—hypoactive sexual desire disorder, female sexual arousal disorder, male erectile disorder, female orgasmic disorder, male orgasmic disorder, and dyspareunia—all exclude the diagnosis if it is attributable to a medication. Nevertheless, the association of sexual dysfunctions with medications is often the reason for medication noncompliance. Clinicians are advised to ask about sexual dysfunctions whenever they prescribe medications or when patients discontinue medications, because sexual dysfunctions are often not spontaneously reported. Discovering that a person believes a medication is causing a sexual dysfunction often answers the question of why that person refuses to take medication that seems to be helping.
Although most medication side effects involve a decrease in interest or activity, a few exceptions exist. The first are the anabolic steroids such as testosterone. Effects of these medications are reviewed in Saleh, Fedoroff, Ahmed, and Pinals (2008). It is surprising that less evidence exists of an association between testosterone and sexual drive than between testosterone and aggression. Evidence of increased sex drive in response to treatment with testosterone is seen most often in people who begin with low testosterone levels, such as people with hypogonadism (e.g., Down and Prader–Willi syndromes).
Another group of relevant drugs associated with an increase in sexual activity are the selective cGMP phosphodiesterase type 5 (PGE5), the most well known being sildenafil (Viagra). These medications result in enhanced penile erection (Nurnberg et al., 2003) and may be prescribed to individuals with hypogonadism, such as those with Down and Prader–Willi syndromes. Although the manufacturers of these medications have claimed they have no effect on sexual interest, men with erections are more likely to think about sex than those with erectile dysfunction.
Selective serotonergic reuptake inhibitors (SSRIs), widely prescribed as antidepressant medications, particularly for individuals with Down syndrome, are the third group of medications affecting sexual interactions. Although they are often described as medications that reduce sex drive, they also inhibit orgasm if prescribed in too high a dose. When this happens, it sometimes unmasks underlying paraphilic interests (Fedoroff, 1994).
The most common way in which sexual interests and behaviors may be increased is secondary to delirium. Delirium is a condition in which a change in cognition occurs, accompanied by a change in level of consciousness. All people with developmental disability are more susceptible to delirium because they tend to be taking multiple medications. People with delirium, especially agitated delirium, can become disinhibited because of confusion and increased impulsivity. Delirium should be considered in all cases in which a change in level of consciousness occurs, accompanied by impulsive or uncharacteristic sexual acts.
Down, Prader–Willi, and Williams syndromes are thus associated with several biological issues that may in turn affect sexuality. A summary of these effects is presented in Table 1.
Psychosocial Effects on Sexuality
The BPS model includes not only biomedical but also psychological and social vulnerabilities, yet teasing out the difference between a psychological disability and a social disability is often difficult. Psychological vulnerabilities include current psychological features and skills deficits such as limited coping skills, whereas social vulnerabilities are environmental or interpersonal vulnerabilities (Griffiths & Gardner, 2002). An example of a social issue may be a specific environment, such as an overstimulating work environment that causes anxiety or an abusive situation. Nonetheless, the two vulnerabilities are interwoven, and for ease of comprehension, we discuss psychological and social vulnerabilities together.
Primary Psychosocial Effects on Sexuality
Individuals with developmental disability may present with primary psychosocial vulnerabilities, which are traits or behaviors specific to the disability that can have a direct impact on their sexual expression. Individuals with Prader–Willi syndrome, for example, typically have difficulty detecting important social cues (Butler et al., 2006). Consequently, they may not recognize when they have invaded someone's personal space or that the other party does not wish to engage in a romantic relationship. Individuals with Down syndrome have low expressive vocabularies (Roberts et al., 2007), which may impede their ability to communicate their sexual desires or interest in a sexual relationship. Although some primary psychosocial effects are associated with genetic diagnoses, most of the psychosocial effects are considered secondary because they are not the result of the primary clinical diagnosis but are instead the result of the vulnerabilities presented by the primary diagnosis (Streissguth et al., 2004).
Secondary Psychosocial Effects on Sexuality
Sex education and the expression of sexuality have not been an integral part of the lives of people with developmental or physical disability (McCabe, 1999), regardless of diagnosis. Although most professionals and support providers have agreed that sex education should be provided for individuals with developmental disability, many are still not provided with the opportunity to access appropriate education. Researchers have also reported that the sex knowledge of people with developmental disability is partial and inaccurate (McCabe, 1999).
Sex education is essential for individuals with developmental disability because regardless of age or gender, the degree of risk for sexual abuse is at least 150% greater than the risk for individuals who do not have a disability (Sobsey, 1994). This increased vulnerability is not related directly to the nature of the individual's disability; rather, abuse has been suggested to be more likely to occur because of the way society treats individuals who have a developmental disability and views their sexuality (Griffiths, 2007; Sobsey, 1994). In other words, the human service systems create powerlessness, no opportunities for decision making, and lack of control in the lives of people with developmental disability, thus creating an ideal environment for the abuser (Griffiths, 2007). However, some specific genetic disorders present particularly high vulnerability to abuse. For example, individuals with Williams syndrome are at a higher risk for abuse on account of their highly sociable nature and eagerness to please others (Finucane, 2004).
Not only are individuals with disabilities more vulnerable to abuse, they are also at risk of engaging in sexual behaviors that may appear deviant, resulting in legal problems. Hingsburger et al. (1991) coined the term counterfeit deviance to describe the sexual misbehavior of individuals with developmental disability as the product of experiential, environmental, or medical factors. They provided 11 hypotheses to explain behavior that may appear sexually deviant but that is actually the result of other issues. An example includes the perpetual arousal hypothesis, which claims that individuals with disabilities may be in a state of constant sexual arousal because they are unable to achieve sexual pleasure through appropriate means. They may lack the physical ability or knowledge of how to masturbate to orgasm. A second hypothesis is the inappropriate courtship hypothesis, which postulates that these individuals are unable to discriminate between appropriate and inappropriate sexual behavior, as well as public and private venues, resulting in attempts to form relationships through problematic methods.
Several examples of counterfeit deviance have been published elsewhere. For example, people with Williams syndrome do not always understand social conventions about personal boundaries (Dykens & Rosner, 1999; Finucane, 2004). Klein-Tasman and Albano (2007) published a case report of a man with Williams syndrome who masturbated in public washrooms when aroused.
A few syndromes may also be associated with self-stimulating behavior, but the cause of the behavior may be secondary to other biomedical vulnerabilities; an individual with Williams syndrome may in fact be responding to discomfort from a urinary tract infection, whereas a person with Prader–Willi syndrome may be rectal picking as a form of nonsexually motivated self-injurious behavior. Finally, some medications such as anticholinergic medications (Saad et al., 1999) cause vaginal dryness that may lead to discomfort, and behaviors may appear to be masturbation. If these behaviors occur in public, they are even more likely to be considered sexually deviant.
Treatment, Counseling, and Education
Identifying the sex problems and concerns of individuals with genetic syndromes is only half the task; the other is to provide interventions and treatments that help the individual achieve healthy and optimal sexual and overall quality of life. In keeping with the BPS model, treatments for the sexuality issues of people with genetic diagnoses must also consider their biological, psychological, and sociocultural aspects, including their unique strengths and needs. Knowing what treatments work for which person and in which context helps to ensure that individuals with genetic syndromes receive suitable and timely interventions to prevent and mitigate secondary biological and psychosocial effects.
Sociosexual education continues to be the most popular and widely practiced approach; however, unfortunately, not all individuals receive training, and few studies have evaluated the effectiveness of interventions in increasing knowledge and decreasing risk for exposure or abuse (Watson, Griffiths, Richards, & Dykstra, 2002). Under the umbrella term sociosexual education are a host of techniques, strategies, programs, and interventions designed to promote good sexual behavior and overall health and well-being (Griffiths, 2007).
Intricately related to sexual education are interventions that target the social vulnerabilities experienced by many individuals with genetic disorders. For instance, individuals with Williams syndrome are known for their overly friendly and socially uninhibited disposition, which places them at great risk for being sexually exploited and abused (Finucane, 2004). Their social skills deficits tend to be particularly disconcerting for parents (Howlin & Udwin, 2006), as demonstrated in the following (abbreviated) case example:
Clinician: Can you tell me about your daughter?
Parent: My daughter was sexually assaulted by a man she became familiar with at her weekly baseball game. I know why this happened. It is because she is so friendly and impulsive. She talks to everyone. I have told her so many times that she shouldn't talk to everyone she sees. She has this uncanny ability to remember faces and will just walk up to people and begin talking to them. She has such a strong desire for friends. I just don't know what to do.
Clinician: I am very sorry your daughter has gone through this assault. To help me understand, can you tell me what other issues your daughter presents?
Parent: When she was a small child she was diagnosed with Williams syndrome. The doctors explained that she may approach people indiscriminately and that she will be overfriendly, even to strangers.
Clinician: Has your daughter been involved in sexual abuse prevention through the local agency?
Parent: I didn't know there was anything available. I think there was sex education in her class at school one time. I am not sure she will understand, as the psychologist said she functions at a moderate level. Would sex education help her?
Clinicians who understand the complexities of Williams syndrome can create a therapeutic environment to decrease risk by implementing social skills training to address safety and abuse prevention, decrease risk factors when in social situations, and increase sexual education and awareness in relationships. Providing care providers with information and education about the features and characteristics of Williams syndrome is also critical so that they can be aware of the possible dangers and then implement effective prevention strategies.
Sexual abuse prevention is a major component of sexuality education and should be considered part of any comprehensive treatment plan for people with genetic disorders. Abuse prevention programs should set out to teach individuals to assert and protect themselves in dangerous situations. Researchers have found that some of these programs help and can act as a forum for sexual expression. In an abuse prevention session of a sociosexual education program (Miodrag, 2004), one participant with developmental disabilities disclosed feelings surrounding his abuse to the group as follows: “I felt like a broken down car” (p. 71); this sparked a discussion about how to protect oneself and identify a safe person to tell. Integrating role-playing and simulations of noticing red flags for potentially abusive and exploitative situations should also be included in any treatment plan. This strategy could be especially beneficial for individuals with Prader–Willi syndrome, who do not naturally pick up those social cues and skills on their own.
Klein-Tasman and Albano (2007) showed that a brief, cognitive–behavioral psychosocial treatment program had positive outcomes in the treatment of a man with Williams syndrome who had social skills deficits and obsessive–compulsive behavior. Role-playing helped the client control his impulses to act inappropriately when around women. In addition, education about male sexuality, using a physical cue (e.g., a rubber band on the wrist), concrete strategies such as self-statements, and simple cognitive restructuring were reported to help decrease his obsessive thoughts about sexual behavior and masturbation in public places when he was aroused, as well as his obsessive ruminations about other people's sexual behaviors.
A final case involves Ted, who has Prader–Willi syndrome and is being seen in a sexual behaviors clinic as a result of his obsessing about a female student in the school he attends. He reportedly approached her repeatedly, making inappropriate sexual comments.
While in her office, a clinician hears a man yelling in the waiting room. She observes a man who appears to be extremely agitated. He continues to say that he is not going to the meeting. After about 10 minutes of discussion, he agrees to come into her office.
Clinician (addresses the young man): I am hoping we can get to know one another, so I was wondering if you could tell me a little bit about yourself.
Ted: I haven't done anything wrong, and I want to go home now.
Clinician: How about you tell me things you want me to know about?
Ted: I don't want to go to school. Can you tell the staff to let me stay home?
Clinician: First can you tell me why you don't like school?
Ted: I got into trouble and don't want to go back.
Clinician: Can you tell me more about that?
Ted: I want the staff to tell you. [Ted was visibly agitated because he was picking his skin, and there was evidence of blood on both of his forearms.]
Support staff: There was an incident with a girl at school. Ted is very impulsive and can't seem to contain himself—he approached the girl and tried to hug and kiss her and held onto her against her will. He told her he wants to have sex with her. He has been following her around school and has been calling her at home at all hours of the night. Her parents called the school and complained. When this last incident happened at school, she reported it to the office. Because she is only 14 years old, the police were called. They spoke to Ted and have warned him if he doesn't leave her alone, they will lay charges against him.
Ted: I am not going back to school. The police are bad. I hate the teachers too. They got me in trouble with the police.
Individuals with Prader–Willi syndrome are often treated for common and distressing behaviors of varying degrees of severity, including temper tantrums, aggression, stubbornness, skin picking, compulsivity, overeating, hoarding, noncompliance, and concerns with exactness and routine (Dykens, 2004; Hartley, MacLean, Butler, Zarcone, & Thompson, 2005). These behavioral characteristics typically begin in early childhood and continue into adulthood (Dykens, 2004); between the ages of 20 and 29, individuals with Prader–Willi syndrome have the greatest difficulties with aggressive behaviors, compared with younger children (ages 12–19) and older adults (ages 30–45; Hartley et al., 2005). Knowing when behaviors peak helps in guiding and targeting appropriate treatments. Males have been reported to have a greater likelihood than females of externalizing behaviors, aggression, and depression, and females tend to show an increased frequency of skin picking (Dykens, 2004; Stokes & Luiselli, 2009).
The problematic and stereotypic behavior of rectal picking can create difficulties for individuals with Prader–Willi syndrome in their homes, schools, and community settings. This behavior can lead to police involvement when the individual with Prader–Willi syndrome has exhibited rectal picking in public places, thereby producing the appearance of an indecent act of public exposure. Applied behavior analysis through a systematic intervention in naturalized conditions is a successful approach to reducing this particular behavior (Stokes & Luiselli, 2009). Treatment of behavioral problems may be lifelong, and highly structured and specialized programs are required to manage extremely problematic behavior (Martin et al., 1998).
In the case of Ted, there was evidence of focused, persistent, and unwelcomed interest in his classmate. Clinically speaking, considering the components of the BPS model of treatment to support individuals such as Ted is important. Specifically, SSRIs could biomedically help to decrease Ted's social anxiety. Medication should be complemented psychosocially with an assessment of his sexual knowledge and attitudes to develop a comprehensive behavior program that addresses the inappropriate social behaviors. Equally as important, a support system is required that provides opportunities to build appropriate, fulfilling, and meaningful social relationships. Creating a treatment plan that has ongoing support strategies for the issues that arise from the behavioral phenotypes typical of syndromes such as Prader–Willi is critical.
Advances in the diagnosis of many genetic syndromes have allowed for strategies and interventions that increase quality of life (Dykens et al., 2000). Recognizing comorbid conditions in relation to psychiatric disorders and challenging behaviors for specific genetic syndromes has improved treatment outcomes (Allen & Davies, 2007).
Simply recognizing that Prader–Willi syndrome may predispose a person to poor social adjustment is not enough. To ensure that legal ramifications do not become a reality, first identifying the asocial behavior and then creating a preventive system that addresses illegal behavior is critical. Discrimination skills for public behavior could be a preventive treatment option. Likewise, given the overly friendly nature and lack of discrimination skills among individuals with Williams syndrome, abuse prevention training in the early childhood years should be the standard, not the exception. If a couple with Down syndrome is considering having a family one day, genetic counseling and information about fertility at a level they are able to understand is an essential provision. Choosing to withhold information is not only unethical but also disrespectful.
The issues presented in this article may be specific not only to Down, Prader–Willi, and Williams syndromes. A BPS model can be equally applied to understanding and treating sexuality issues in other genetic syndromes. Biomedically, individuals with Prader–Willi syndrome have low gonadotropic hormones (Schulze et al., 2001), as do people with Lesch-Nyhan syndrome (Watts, Harkness, Spellacy, & Taylor, 1987), which typically leads to hypogonadism and low levels of testosterone. Other syndromes associated with hypogonadism include Rubinstein-Taybi, Down, and Noonan syndromes (Cooley & Graham, 1991). Delayed puberty has been described not only among people with Prader–Willi syndrome (Cassidy & Driscoll, 2009) but also among adolescents with Lesch-Nyhan (Watts et al., 1987), Smith-Lemli-Opitz (Nowaczyk & Tierney, 2007), and Noonan syndromes (Elsawi, Pryor, Klufio, Barnes, & Patton, 1994). Early menopause has been documented among individuals with Down syndrome (Schupf et al., 1997; Seltzer et al., 2001) as well as among those with Fragile X syndrome (Kennedy, MacGregor, & Rosenfield, 2007). Finally, cryptorchidism is frequent among males with Down syndrome (Cooley & Graham, 1991) and Prader–Willi syndrome (Cassidy & Driscoll, 2009) but also among males with Cornelia de Lange, Rubinstein-Taybi (La Vignera et al., 2009), Noonan (Sasagawa et al., 1994), and Smith-Lemli-Opitz syndromes (Lachman, Wright, Whiteman, Herson, & Greenstein, 1991).
Addressing mental health issues, individuals with Cornelia de Lange (Oliver, Sloneen, Hall, & Arron, 2009), Down (Levitas et al., 2007), Prader–Willi (Cassidy & Driscoll, 2009), Rubinstein-Taybi (Levitas et al., 2007), Smith-Magenis (Dykens et al., 2000), and Williams (Klein-Tasman & Albano, 2007) syndromes are all vulnerable to compulsive or repetitive behaviors. Individuals with Smith-Magenis syndrome often engage in smelling or sniffing behaviors (Dykens et al., 2000) that may appear sexual as well as obsessive–compulsive in nature (although they are not associated with sexual arousal and are not ego dystonic). Individuals with Cornelia de Lange (Oliver et al., 2009), Fragile X (Dykens et al., 2000), Prader–Willi (Dykens & Smith, 1998), Rubinstein-Taybi (Dykens et al., 2000), Smith-Magenis (Dykens & Smith, 1998), and Williams (Dykens & Rosner, 1999) syndromes often present impulsive behavior. Self-injurious behavior is common among people with Cornelia de Lange (Oliver et al., 2009), Lesch-Nyhan (Nyhan, 2005), Prader–Willi (Butler et al., 2006), Smith-Lemli-Opitz (Tierney, Nwokoro, & Kelley, 2000), and Smith-Magenis syndromes (Dykens & Smith, 1998). Finally, polyembolokoilamania, also known as orifice stuffing, is common among people with Smith-Magenis syndrome (Dykens & Smith, 1998), and individuals may insert objects into their mouths, anuses, and vaginas; this behavior has been reported to worsen in puberty (Smith et al., 2010).
Considering the broader view of individual health means shifting one's thinking beyond genetic syndromes to aspects of the whole person that encompass the interaction of his or her biological, psychological, and social factors. Illegal sexual behaviors, sexual vulnerabilities, and sexual dysfunctions are all personally and sometimes publicly stigmatizing; however, all can be treated. Developing a model that supports awareness and creates a dignified approach that promotes healthy sexuality is integral to a holistic approach.
Genetic research has become rich over the past decade with advanced research practices; however, despite clinical findings, by and large little empirical research has addressed the sexual implications of these syndromes. Our hope is that this article will spur interest for future research. We believe the potential for greater quality in the sexual lives of people who have genetic syndromes and developmental disability is immense.
Editor-in-Charge: Steven J. Taylor
Shelley Lynn Watson (e-mail: email@example.com), Psychology Department, Laurentian University, Ramsey Lake Road, Sudbury, Ontario P3E 2C6, Canada; Deborah A. Richards, Community Living Welland-Pelham Specialized Services, Welland, Ontario, Canada; Nancy Miodrag, Vanderbilt Kennedy Center; J. Paul Fedoroff, University of Ottawa IMHR, Ottawa, Ontario, Canada.