We surveyed 439 professionals in the field of autism to assess their knowledge and perceptions about fragile X syndrome (FXS) and related issues. Almost half had worked with at least one child diagnosed with FXS, yet most lacked basic knowledge about the condition, underestimated its significance in the etiology of autism spectrum disorders, and rarely accessed fragile X–specific resources. A majority perceived etiology to be an important variable in therapeutic response while three quarters felt that professionals in the field of autism should play an active role in referring children for etiological evaluation. Despite these opinions, most respondents either rarely or never inquired about etiology when working with a new client. The survey results underscore the need for training and education so that autism professionals can become effective partners in diagnostic genetic referral and in research and implementation of syndrome-specific interventions.
Given the prominent role of genetic factors in the causation of autism spectrum disorders (ASD), a clinical genetics evaluation has the potential to offer significant benefits to families. These benefits include genetic counseling, syndrome-specific medical monitoring, targeted educational interventions, and community-based support through genetic syndrome organizations (Hodapp & Dykens, 2012; Navon, 2012). On a theoretical level, the field of behavioral analysis recognizes the importance of including biomedical variables, such as genetic etiologies, in the functional analysis and assessment of children with ASD. Genetically based predispositions, such as the increased reinforcing effectiveness of food for people with Prader-Willi syndrome (Clarke, Boer, & Webb, 1995), are considered to be important underlying variables that influence the occurrence of problem behaviors (Hanley, Iwata, & McCord, 2003; McGill, 1999). Griffiths and Gardner (2002) have endorsed a multimodal contextual approach that uses the findings of functional analysis, including information about underlying genetic etiologies, to develop individualized support plans.
Professional groups, including the American Academy of Neurology, the American Academy of Pediatrics, and the National Society of Genetic Counselors, recommend that families of children with ASD be offered genetic evaluation, including testing for fragile X syndrome (FXS), the most common known cause of ASD (Filipek et al., 2000; Finucane et al., 2012; Johnson & Myers, 2007; Kemper et al., 2010). Despite these recommendations, most children with ASD do not undergo genetic testing to try to determine the cause of their disabilities (Wydeven, Kwan, Hardan & Bernstein, 2012). Increasingly, a missed genetic diagnosis can mean failure to provide syndrome-specific educational, behavioral, medical, and pharmaceutical interventions that can significantly enhance a child's ability to function.
Wydeven et al. (2012) found that parents of children with ASD cite a lack of awareness as the primary reason they have not pursued genetic testing. Lack of awareness also has an important impact on intervention research: Without the full participation of behavior specialists, applied behavior analysis (ABA) therapists, special educators, and other professionals, practical applications of genetic research can neither be implemented nor expanded upon. Such professionals are uniquely positioned to play a role in the referral of children for diagnostic genetic evaluations, the investigation of behavioral phenotypes, and the implementation of practical applications of genetic research. Because of their involvement with children over extended periods of time, they are especially apt to recognize particular cognitive and behavioral styles associated with genetic disorders (Finucane, Haas-Givler, & Simon, 2003). More so than physicians, nonmedical professionals are likely to establish an ongoing rapport with the families and children they serve, and because of their frequent contact with families in the home and at school, they are in an excellent position to follow up on referrals made for diagnostic genetic testing.
Despite these advantages, the training of professionals working in the field of autism has not included an emphasis on etiological subgroups of children with ASD. The purpose of this study is to assess the knowledge base and perceptions of nonmedical professionals about genetic causes of ASD, particularly FXS. We chose to focus on FXS because it is among the most common and well-researched causes of ASD in all populations.
Fragile X Syndrome
Considered to be the most common inherited cause of intellectual disabilities, FXS is strongly linked to ASD on a behavioral and molecular level (Hagerman et al., 2009); behaviorists, special educators, and other professionals who support clients with ASD are likely to encounter children with FXS in their work. FXS is a complex genetic disorder associated with a wide range of physical, cognitive, and behavioral symptoms. It affects approximately 1 in 4,000 males and 1 in 8,000 females with all ethnic and socioeconomic backgrounds. Conservative estimates cite a premutation carrier rate of 1 in 813 males and 1 in 259 females (Finucane et al., 2012). Family members of people with FXS may exhibit a variety of gene-related symptoms from infertility to psychiatric and neurological disorders (Hagerman & Hagerman, 2004). Characteristic physical features of FXS include large ears, an elongated facial appearance, and macroorchidism (testicular enlargement) although the latter findings may be subtle, particularly in prepubertal children. Hand flapping, hand biting, and gaze aversion are among the most commonly reported maladaptive behaviors (Hagerman, 2002). The diagnosis of FXS is confirmed through highly accurate DNA analysis, which is widely available and covered by most health insurance plans in the United States, including state Medicaid programs. Fragile X testing has long been recommended for all individuals with developmental disabilities of unknown cause (Curry et al., 1997; Finucane et al., 2012; Moeschler, Shevell, & American Academy of Pediatrics Committee on Genetics, 2006; Sherman, Pletcher, & Driscoll, 2005). Despite this, DNA analysis has not become routine, and most children with ASD have never undergone diagnostic genetic testing. Children with undiagnosed FXS access intervention and special education services based on their presenting behavioral symptoms, including developmental delay, intellectual disability, attention deficits, and ASD.
An association between FXS and autism has been recognized for decades (Brown et al., 1986; Hagerman & Harris, 2008). FXS has been identified as an underlying etiology in approximately 1 in 20 children with ASD with a range of 2% to 8% in various studies (Brown et al., 1986; Chudley, Gutierrez, Jocelyn, & Chodirker, 1998; Estecio, Fett-Conte, Varella-Garcia, Fridman, & Silva, 2002; Li, Chen, Lai, Hsu, & Wang, 1993; Wassink, Piven, & Patil, 2001). Conversely, although estimates vary, up to half of male children with FXS meet criteria for ASD with as many as one third meeting full Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria (American Psychiatric Association, 1994) for autistic disorder (Hagerman & Harris, 2008). The prevalence of ASD in girls with FXS remains unclear as FXS occurs less commonly in females due to its X-linked inheritance pattern.
Kaufmann et al. (2004) concluded that three- to eight-year-old boys with FXS who met DSM-IV criteria for ASD differed from those with FXS who did not have ASD on domains involving complex social interactions on the Autism Diagnostic Interview-Revised (Lord et al., 1994). A longitudinal follow-up report of the same cohort (Hernandez et al., 2009) showed the diagnosis of ASD to be relatively stable in boys with FXS, consistent with longitudinal studies of idiopathic ASD. In 2001, Rogers, Wehner, and Hagerman found that the behavioral profile of two- to four-year-old children with ASD due to FXS was indistinguishable from that of children with ASD due to other causes. On the contrary, Hall, Lightbody, Hirt, Rezvani, and Reiss (2010) found significant differences in social and communication symptoms in FXS versus idiopathic autism. While the prevalence, developmental course, and severity of ASD in FXS are still being researched, it is clear that there is much behavioral overlap, and many children with this condition receive autism-based interventions.
In addition to its association with ASD, the clinical profile of FXS includes several behaviors that may come to the attention of a behavior analyst. These include avoidance of eye contact (gaze aversion) (Cohen et al., 1988), hand flapping and rocking (Baumgardner, Reiss, Freund & Abrams, 1995), and hand biting (Reiss & Freund, 1992). Hyperarousal has been suggested as a factor in the expression of these behaviors in people with FXS (Belser & Sudhalter, 1995). Situations such as forced eye contact, crowding, and excessive noise may increase arousal, which, in turn, increases the probability that a target behavior will occur. Social gaze has been found to correlate with cortisol reactivity in children with FXS, suggesting a syndrome-specific association between gaze aversion and limbic-hypothalamic-pituitary-adrenal dysfunction (Hessl, Glaser, Dyer-Friedman, & Reiss, 2006).
Dykens and Kasari (1997) recognized that specific genetic conditions might alter the reinforcing effectiveness of certain environmental events. Such alterations can have practical implications for behavior intervention approaches and long-term adaptation (Finucane, Dirrgl, & Simon, 2001; Gasca et al., 2010; Key & Dykens, 2008; O'Reilly, Lacey, & Lancioni, 2000). Griffiths and Gardner (2002) discussed in detail how a diagnosis of FXS can impact the development of behavior support plans. They suggest that syndromic vulnerabilities need to be examined as part of the functional behavior assessment in people with FXS. These vulnerabilities include anxiety, sensory overload, attention and short-term memory deficits, gaze aversion, and difficulty with assembly tasks; consequently, a support plan for children with FXS could include environmental manipulations to reduce crowding, visual and auditory distractions, and sequential processing tasks (Dykens, Hodapp, & Finucane, 2000). Although the treatment of children with ASD often includes strategies for increasing eye contact, some clinicians have recommended limiting eye contact goals for those with FXS (Dykens et al., 2000; Sudhalter & Belser, 2001) as a way to reduce hyperarousal. Given the importance of eye contact for learning and socialization, behavioral researchers have begun to look at systematic interventions for gaze aversion in FXS (Hall, Maynes, & Reiss, 2009). Many practical resources for professionals are available through the U.S.–based National Fragile X Foundation1, including dozens of articles on behavior and education in FXS and a biannual international conference featuring current research on intervention.
Because its physiological mechanism is well elucidated and has been replicated in animal models, FXS shows particular promise for the development of targeted pharmaceuticals aimed at addressing its underlying biochemical basis (Hagerman et al., 2009). FXS is caused by gene mutations that shut down production of Fragile X Mental Retardation Protein (FMRP), an essential neuronal protein that is known to be involved in synaptic signaling and dendritic development (Bear, Huber, and Warren, 2004). Unlike symptom-directed psychotropic medications, targeted pharmaceuticals for FXS focus on restoring neuronal function through drugs that mimic the effect of FMRP. In animal models, targeted treatments for FXS have shown a positive effect on seizures, behavior, and cognition (Ogren & Lombroso, 2008). Several of these medications are currently in human clinical trials and expected to enter the drug pipeline within the next few years. The development of biochemically targeted pharmaceuticals offers hope to families affected by FXS, and they may also prove effective for the broader treatment of autism unrelated to FXS (Hagerman et al., 2009).
Parental involvement is a key component of behavioral intervention for children with ASD (Benson, Karlof, & Siperstein, 2008; Moes & Frea, 2002; National Research Council, 2001), and parental stress is correlated with poorer therapeutic outcomes (Davis & Carter, 2008; Osborne, McHugh, Saunders, & Reed, 2008). Several aspects of FXS increase the potential for family stress and need to be considered when developing a parent-implemented treatment plan for a child with FXS (Hodapp & Dykens, 2012; Johnston et al., 2003). Although many are asymptomatic, all mothers of children with FXS carry one copy of an altered fragile X gene and have a 50% chance of passing it to their children with each pregnancy (Finucane & Cronister, 2000). The chance for a recurrence of FXS in siblings is significantly higher than in families with ASD due to other causes, and it is not uncommon to encounter parents raising two or more affected children. Additionally, there is a higher than expected prevalence of cognitive disabilities and mental health disorders in mothers of children with FXS, which appear to be independent of (although exacerbated by) the stress of parenting a child with special needs (Hagerman & Hagerman, 2004; Lachiewicz et al., 2010; Wheeler, Hatton, Reichardt, & Bailey, 2007).
Previous surveys of special educators have documented a pervasive lack of awareness about FXS (Wilson & Mazzocco, 1993; York, von Fraunhofer, Turk, & Sedgwick, 1999), supporting the contention of Hodapp and Dykens (1994) that the medical genetics and developmental disabilities fields represent two distinct “cultures.” Behavioral research on genetic syndromes has steadily increased over the past two decades with more attention being paid to methodological issues (Hall, 2009; Hodapp & Dykens, 2001), and the field of intellectual disabilities has recently begun to retreat from its long-standing aversion to etiology-based research (American Association on Intellectual and Developmental Disabilities, 2010). Yet even as advances in genetics and neuropsychology are revealing new insights into genetically driven behavior (Finucane & Haas-Givler, 2009; Lightbody & Reiss, 2009; Prasad, Howley, & Murphy, 2008; Schaer & Eliez, 2007), research lags in other key disciplines (Hodapp & Dykens, 2009). We are not aware of previous studies assessing knowledge and perceptions of FXS among behavior therapists and other professionals involved in autism intervention.
A 28-item questionnaire was developed to assess professionals' knowledge about FXS, utilization of fragile X–specific resources, and general understanding of the relationship between genetics and developmental disabilities. Two of the authors made the survey available at an exhibit booth during 2007–2008 at three major professional conferences known to attract professionals interested in autism. These included the annual meetings of ABA International (San Diego, CA), the Network of Autism Training and Technical Assistance Programs (Columbus, OH), and the Council for Exceptional Children (Boston, MA). Participants were invited to complete a questionnaire if they self-identified as working with children diagnosed with ASD. Survey completion was voluntary, and although responses were anonymous, the names of respondents who returned surveys were separately entered into a drawing for a raffle prize.
The questionnaire included the introductory statement: “The following survey is designed to assess the current state of knowledge about FXS and utilization of syndrome-specific resources by professionals in the field of Special Education / Applied Behavior Analysis.” As summarized in Table 1,each respondent was asked to note his or her age and gender as well as other demographic information (e.g., professional title, number of years in practice, work setting, prior training in genetics, etc.). Respondents were queried about the frequency with which they asked about the etiology of a child's ASD when working with a new family. Four questions specifically inquired about respondents' experience with children diagnosed with FXS and ways in which they educated themselves about the diagnosis. Respondents were specifically asked whether they had ever requested information about FXS from a national support organization and whether or not they had ever attended a conference or seminar about FXS. Respondents were asked to self-rate their knowledge of FXS on a three-point scale: “not at all knowledgeable,” “somewhat knowledgeable,” or “very knowledgeable.” Seven survey questions were designed to assess factual information about FXS and related issues (Table 2). Four multiple-choice questions tested specific knowledge about key physical and behavioral aspects of FXS; three questions related to general principles in genetics and developmental disabilities. Each knowledge question had only one correct answer; one point was given for a correct answer, and incorrect or blank answers received zero points. Knowledge questions were designed through author consensus to reflect fundamental facts about FXS that are routinely highlighted in professional and parent literature.
The remaining survey questions were designed to assess respondents' perceptions and opinions about diagnostic genetic testing and the importance of etiology. A five-point Likert scale ranging from “strongly agree” to “strongly disagree” followed each of six subjective statements (e.g., “When I work with a student who has a genetic diagnosis, I feel less optimistic about his/her prognosis than I do for students without genetic diagnoses”). These questions were also developed through author consensus. During survey construction, each item was cognitive tested, and questions were not included unless all three authors agreed on the interpretation of the question. Formal pilot testing of the survey was not undertaken.
Four hundred thirty-nine surveys were fully or partially completed (Table 1). Surveys with missing data were included in analyses for which data was available. Missing data was treated as an incorrect response for the seven multiple-choice knowledge questions with a single correct answer. Key findings of the study are described below. The questionnaire and complete results are available upon request from the corresponding author.
The sample was 83.8% female and 12.3% male with 3.9% not indicating gender. The 419 individuals who indicated their age ranged from 21 to 65 years (MAGE = 38.54, SD = 11.14). Professional titles of 431 respondents were obtained. Over a third (36.7%) of these individuals described themselves as ABA-related professionals with 19.4% citing either a BCBA (board-certified behavior analyst) or BCaBA (board-certified assistant behavior analyst) credential as their professional title. Close to a quarter (23.7%) of respondents were special educators working with children on the spectrum; special education administrators accounted for 12.1% of the total. The remaining participants were distributed among administrators (12.1%) and various therapists and paraprofessionals. More than half (54.8%) of 436 respondents indicated that most of the clients on their caseloads had ASD while 14.7% worked primarily with developmental disabilities other than ASD. The average number of years worked in the autism field for 430 respondents was 11.51 (SD = 9.15) with a range of 0 to 40 years. Of 436 respondents, 55.7% indicated that they had received no formal instruction about the “role of genetics in developmental disabilities.”
Inquiring About Etiology
Study participants were surveyed as to how often they asked parents of new clients about the cause of the child's disability. Of 432 respondents, almost three quarters indicated that they never (40.1%) or only occasionally ask (33%) about etiology, leaving 25.3% who always ask (12.8%) or ask most of the time (12.5%). A chi-square analysis (χ2 [3, n = 432] = 106.54, p = .00) confirmed that these results differ significantly from chance, and there were no correlations with age or length of work experience. To investigate whether any types of workers were more likely than others to ask about etiology, we analyzed four subgroups based on self-reported professional titles. The first subgroup included individuals in behavior-specific fields (e.g., behavior consultant, ABA therapist, BCBA, etc.) (n = 156); the second subgroup included special and regular education teachers (n = 118); the third subgroup consisted of administrators, directors, and coordinators (n = 66); and the fourth subgroup included all remaining job titles (n = 84). A chi-square performed on these data was not significant (χ2 [9, n = 424] = 12.67, p = .35), indicating that regardless of job type, professionals rarely ask parents about etiology.
While most respondents did not routinely inquire about etiology, roughly half (n = 436, 48.7%) indicated that they had worked with a child whom they knew to be diagnosed with FXS. We did not specifically ask about the duration of these FXS interactions; however, given the nature of behavioral work, most were likely to involve multiple sessions or long-term exposure. When asked where respondents would look to find information about a genetic diagnosis, most (n = 423) cited the Internet as the primary information source (43.7%), followed by the client's record (15.7%). The overwhelming majority (93.2%) of respondents (n = 438) had never attended a conference or seminar about FXS, nor had they (n = 437) requested information about FXS from a syndrome support organization (73.6%). For those individuals who indicated that they had worked with a child diagnosed with FXS (n = 214), 11.68% had attended a conference on FXS while roughly half (44.85%) had received some information from a syndrome support group. Consistent with these results, only 1.8% of 437 respondents indicated that they felt “very knowledgeable” about FXS with 44.2% reporting that they were “not at all knowledgeable” and 54% feeling “somewhat knowledgeable.” To see whether self-perceived knowledge about FXS differed across professional titles, a chi-square analysis was performed on these data. Once again, there was no difference (χ2 [9, n = 424] = 14.02, p = .12) across job subcategory. Respondents who reported having worked with at least one child with FXS were significantly more likely to rate themselves as “somewhat” or “very” knowledgeable than those without experience (χ2 [3, n = 432] = 108.14, p = .00).
Table 2 presents individual multiple-choice knowledge items with the percentage of respondents who selected each choice. The correct choice is also indicated. Examining these individual items, just over half of the professionals surveyed recognized that the diagnosis of FXS is based on the results of DNA blood testing while 16% thought that it was defined by DSM criteria. Most respondents (74.5%) were unable to select large ears as one of the most prominent physical findings in FXS, and 75.4% were unable to recognize hand flapping as a salient behavioral symptom. A majority of respondents (63.2%) underestimated the prevalence of FXS in children with ASD by at least a factor of 10. Interestingly, there was no significant difference in the rate of correct responses among those who had worked with children with FXS versus those who had not, indicating that experience with the disorder was not a determinant of FXS knowledge. This contrasts with the finding of a significant correlation between prior experience and self-perceived knowledge and suggests that working with children with FXS falsely inflated self-perception in these respondents. A further analysis of questions specifically related to FXS (numbered 4, 5, 6, and 7 in Table 2) was undertaken to determine if individuals who had worked with children with FXS performed better than those who had no experience with FXS. Performance was uniformly poor regardless of FXS experience. On each question, t tests indicated no significant difference (p > .05) between those who had versus those who had not previously worked with a child with FXS.
Participants were surveyed about their perceptions of diagnostic genetic testing and the importance of etiology. Over half the respondents (n = 433) either agreed (44.6%) or strongly agreed (9.9%) that professionals should play an active role in referring children for genetic evaluation to determine the cause of their autism. A majority of the cohort felt that most children with ASD had never undergone a comprehensive etiological workup with two thirds of respondents (n = 433) either disagreeing (61.7%) or strongly disagreeing (24.9%) with the statement: By the time they reach school age, most children with ASD have been thoroughly evaluated to determine the underlying cause of their disability. The overwhelming majority of respondents (n = 432) either disagreed (52.5%) or strongly disagreed (24.1%) with the statement: Children with similar IQ levels respond similarly to therapeutic interventions regardless of the cause of their disabilities, suggesting that most perceived etiology to be an important variable in therapeutic outcomes.
Our survey results reveal that professionals in the autism field lack specific knowledge about FXS and rarely access widely available fragile X resources that could have practical relevance for their work. Respondents grossly underestimated the significance of FXS in the etiology of ASD, and most had received no formal training about genetic syndromes. We chose to study FXS because it is among the most common and well-researched causes of ASD; based on the results of this survey, we can unfortunately surmise that professionals are even less well informed about other genetic etiologies.
The genetics field has made efforts to educate health professionals, particularly pediatricians, about the importance of referring children with ASD for clinical genetics evaluation, including fragile X DNA analysis (Finucane, 2012; Kemper et al., 2010). Surprisingly, there has been little effort to involve nonmedical professionals in the genetic diagnostic process even though they spend far more time with these children and their families than do medical personnel. The perceptions of professionals about the importance of etiology for behavioral work are incongruous with their relative lack of objective knowledge about FXS. A majority of those surveyed correctly perceived that children with ASD are not routinely evaluated to determine an underlying etiology. Most concurred that etiology is an important variable in therapeutic response and felt that they should play an active role in referring children for etiological evaluation. Despite these opinions, almost three quarters of respondents either rarely or never inquired about etiology when working with a new client.
Hall (2009) has suggested that there is a bias toward psychopharmacological interventions for FXS with little robust behavioral research to support their use. We agree, and yet our survey indicates that the very professionals who are in a position to evaluate and implement behavioral interventions lack even a rudimentary knowledge about FXS. We previously recognized the untapped role of special educators in syndrome research and in the referral of children with intellectual disabilities for genetic evaluation (Finucane et al., 2003). This potential equally applies to behavior analysts and other professionals involved in the functional behavioral assessment of children who have ASD. The survey results underscore the need for training and education so that professionals can become effective partners in diagnostic genetic referral as well as in research and implementation of syndrome-specific interventions.
Editor-in-Charge: Glenn Fujiura
Brenda Finucane (e-mail: email@example.com), Autism & Developmental Medicine Institute, Geisinger Health System, 250 Reitz Blvd., Lewisburg, PA 17837, USA; Barbara Haas-Givler, and Elliott W. Simon, Elwyn.