We used surveys from 274 families who had at least 1 child with fragile X syndrome (FXS) to determine their experiences in discovering FXS, factors associated with the timeliness of discovery, and the perceived consequences of obtaining this information. For families of male children who were born in the last decade, someone first became concerned about the child’s development at an average age of 13 months. Professional confirmation of a developmental delay did not occur until an average age of 21 months, and a FXS diagnosis occurred at an average age of nearly 32 months. Families reported several barriers to discovering FXS and frustration with the process. Many families had additional children with FXS without knowing reproductive risk. A range of perceived benefits and challenges associated with the discovery were reported. We conclude that selected pediatric practices could promote earlier identification but in only a limited way and predict that disorders such as FXS will continue to challenge current criteria for determining viable candidate disorders for newborn screening.
Federal legislation,1 research documenting the validity of parental concerns,2 evidence for the efficacy of early intervention,3 rapid changes in screening technology,4 the development of new clinical tools for early screening of selected disorders,5 and the discovery of a growing number of genetic causes of disability6 all have contributed to increased interest in the systematic early detection of developmental disorders. Some disorders, such as Down syndrome or spina bifida, require no formal screening, as they are evident at birth. Likewise, risk conditions, such as low birth weight or prematurity, can serve as obvious markers for potential developmental challenges. Other disorders that are not evident through physical examination or birth history are detected shortly after birth through state-based newborn screening programs. Currently, up to 30 metabolic and genetic diseases are screened in 1 or more states. All states screen for phenylketonuria and congenital hyperthyroidism, most screen for sickle cell disease and galactosemia,7 and 32 have passed legislation requiring universal newborn hearing screening.8
Despite the growing emphasis on early identification, most children with disabilities are not identified at birth. Some are found systematically through child find programs or later by teachers when they enter preschool or school and present academic or behavioral challenges. Many children with developmental disorders, however, are identified during the early childhood years through interactions between parents and their pediatricians. Sometimes parents are the first to mention concerns about health, behavior, or development. Research consistently shows that these concerns are often valid and can lead to significant improvements in the extent to which problems are identified early.2,9 In other cases, pediatricians detect potential problems either through developmental surveillance in the context of normal well-child visits or through more systematic developmental screening.10
Although pediatric practice provides the context in which many children with developmental disorders are identified, this process is not always smooth.11 Usually, neither the parent nor the pediatrician initially is certain as to whether a problem exists, and thus a series of discussions, tests, observations, and “watchful waiting” often ensue until the presence of a developmental problem is determined. Both parties are committed to correct ascertainment of the child’s developmental status, but frustrations can occur on either side. For example, the pediatrician may believe that the parent is too anxious about the child’s development, whereas the parent may believe that the pediatrician is too willing to take a “wait and see” attitude, especially for younger children or children with milder delays.12–14 In other cases, parents may not accept that their child has a problem and the pediatrician becomes the conveyor of unwanted news.15 Recent publications argue that pediatric practice could enhance earlier identification of children with disabilities by 1) placing greater credence on parents’ concerns about their children2 and 2) incorporating regular developmental screening in pediatric practice, as opposed to the more typical practice of developmental surveillance.16
Research on early identification of children with disabilities is sparse, typically is retrospective, and usually focuses on heterogeneous groups of children. Because the presenting signs, parent experiences, and family consequences of diagnosis may vary widely across conditions such as autism, vision impairment, or mental retardation, studies of parents’ experiences within the context of particular disorders are important.
Fragile X syndrome (FXS) is an ideal prototype for studying these issues. The most common inherited form of mental retardation, FXS is a single-gene disorder caused by a trinucleotide repeat expansion (CGG) at Xq27.3 near the promoter region on the upper end of the FMR1 gene.17 For normal individuals, there are approximately 6 to 54 CGG sequences. Premutation carriers have 55 to 200 repeats, are at risk for having a child with the disorder, but typically are themselves unaffected. Individuals with 200 or more CGG repeats have the full mutation FXS, usually resulting in methylation of the FMR1 gene that leads to “silencing” of the gene and loss of production of the fragile X mental retardation protein. FXS results in significant impairments in development and adaptive function.18,19 Male individuals with the full mutation usually exhibit moderate to severe intellectual impairment, a range of language disorders, and social and behavioral difficulties, including problems with attention, impulsivity, anxiety, and arousal.20 As many as 25% to 35% also meet the diagnostic criteria for autism.21,22 Female individuals are less severely affected, usually scoring in the mildly delayed to average range of intellectual function and displaying milder but characteristic patterns of social anxiety and challenges in executive function.23
Unlike Down syndrome, however, FXS is not detectable at birth through physical examination or behavioral observation. It is only through the gradual emergence of delays and behavioral challenges that it becomes apparent to parents and professionals that something is wrong. Research in both the United States24 and the United Kingdom25 suggests that most children with FXS are not typically identified as such until nearly 3 years of age or later. Parents report a substantial lag, often a year or more, between first concerns and professional verification of a delay. Even after a delay is identified, it can be up to a year or more before the FXS diagnosis is made. Parents report considerable frustration with professionals who often did not initially acknowledge the possibility of a problem or did not know to refer for FXS testing. A number of factors likely contribute to this scenario, including the subtle expression of the disorder during the first few months or years of life,26 the highly variable nature of expression of severity and associated conditions in FXS,27 and the lack of clear guidelines for determining presence or absence of FXS without a diagnostic genetic test.28
Given that genetic testing could detect FXS before conception, prenatally, or in newborns, some discussions have begun regarding the costs and benefits of various options for genetic screening.28,29 However, a number of factors suggest that any form of systematic universal screening for FXS will not occur in the near future. One reason is that FXS does not currently meet traditional criteria for newborn screening programs as established by a series of consensus reports during the past decade.7,30, 31 These reports emphasize that screening should be limited to disorders that have serious consequences and are relatively common, where there is a rapid and cost-effective test, and for which there are identifiable interventions that can change the course of a disease or disorder. Although FXS meets the first criterion (a relatively common disorder that severely limits life function), a rapid and cost-effective laboratory test and screening protocol are not yet widely available or tested. Although, if diagnosed, all infants would automatically be eligible for state-based early intervention programs as a part of the Individuals with Disabilities Education Act, the lack of any treatment research, especially research on the efficacy of early intervention specifically for children with FXS, is a major limiting factor in any effort to advocate for newborn screening. Further complicating this issue is that screening for carriers is not generally viewed as acceptable practice for any disorder, despite that knowledge about FXS carrier status would be useful to families in providing them with key information about reproductive risk.
A second factor limiting movement toward systematic genetic screening is the limited information available on the consequences for parents and society of the current ways of finding out about FXS. Although 2 studies of early identification experiences have been published,24,25 they have had relatively small sample sizes; have not systematically assessed the burden on families of the current system of finding out the diagnosis; and have not documented adequately the benefits, challenges, and decisions experienced by families once a diagnosis is made.
This article addresses these concerns by reporting the results of a survey of parents of children with FXS. The study expands existing literature by drawing on a large sample of parents and covering a wide range of ages of children and years of diagnosis to answer 7 primary research questions: 1) What is the timing of critical events in finding out about FXS, such as age of first concerns, age of professional verification of developmental or behavioral problems, and age of diagnosis? 2) What were the presenting signs that first led to a concern, who noticed those signs, and how were they responded to? 3) What challenges did parents experience in getting a diagnosis of FXS? 4) From which sources did families get information about FXS after the diagnosis, and what was the perceived quality of that information? 5) What do families perceive as the benefits and challenges experienced as a result of the diagnosis? 6) To what extent did the diagnosis affect subsequent reproductive decisions? 7) To what extent do selected child factors (gender, year of birth, and nature of presenting problem), family factors (income, education, and ethnicity), and systems factors (perceived quality of health care, place of routine care, and source of referral for FXS testing) affect families’ experiences?
Study participants were parents of children with FXS who responded to a mail survey. The survey (described below) was sent to 1) all participants in a longitudinal study of development in FXS being conducted by the first author (n = 85 families), 2) all parents on the mailing list of the FRAXA Research Foundation (n = 400), and 3) parents who requested a survey in response to an announcement about the study posted on the research project Web site and the FRAXA Web site (n = 50). Two surveys were sent to each family, and mothers and fathers were asked to complete them independently.
A total of 460 usable surveys were returned. This number included 287 mothers and 172 fathers representing 299 different families. For this article, we focus on a subset of the respondent pool. First, we excluded the respondents who, before the birth of their first child with FXS, knew that they or their spouse was a carrier of FXS. The reason for this exclusion was that we wanted to document the experiences of families who were not aware of carrier status and thus had to discern it in some way. We also wanted families with a survey returned by a biological parent, as their experiences, perceptions, and consequences would be different from those of adoptive parents or stepparents. Finally, we wanted only 1 response per family. Thus, from the remaining pool of biological parents who had not been aware of carrier status, we selected all mothers (n = 266) and all fathers for whom there was no maternal survey (n = 8), resulting in a total of 274 parents representing 274 different families.
Respondents varied widely in age, with a mean of 42.7 years (standard deviation: 8.97) and a range from 23 to 82 years. Most (94.2%) were white, with 2.1% African American, 1.8% Hispanic, and the remainder coded as other or missing. The respondents were generally well educated, with only 9.5% having a high school degree or less. Of the remainder, 29.9% had completed or attended technical school or some college coursework, 31.8% had completed college, and 28.5% had taken graduate courses or had a graduate degree. In terms of household income, 21.5% had a family income between $21 000 and $50 000, 40.2% between $51 000 and $100 000, and 37.2% >$100 000 (1.1% did not answer this question).
In all cases, the mother was the carrier of FXS. Eighty percent reported no difficulty in becoming pregnant, and 80% reported a typical pregnancy with no medical complications. All but 1 parent had at least 1 child with the full-mutation FXS. Of the total sample, 22.8% had only 1 child and that child had the full-mutation FXS; 16% had >1 child, all of whom had the full mutation; 5.7% had >1 child, all of whom either had the full mutation or were carriers; 41.8% had at least 1 child who was normal with respect to FXS; 1 family had multiple children, all of whom were carriers; and 13.3% had at least 1 child who had not been tested for FXS.
Instrumentation and Procedure
A 48-item survey was constructed, with 4 sections. (A copy of the survey may be requested from the first author.) Section I focused on the process of finding out about FXS. Items asked about initial concerns, professional verification of concerns, and FXS diagnosis. Parents were asked about barriers to getting the diagnosis and sources for information about FXS. Section II addressed the impact of the diagnosis on the family. Items asked whether the diagnosis affected decisions to have additional children, benefits and challenges associated with receiving the diagnosis, adequacy of counseling, experiences in informing extended family members, and any effects on insurance. Section III (not reported in this article) focused on parents’ beliefs about screening for FXS and its potential impact. Section IV asked a number of questions about family demographics, including age of respondent, education, ethnicity, family income, pregnancy history, and religiosity. Because of the complex nature of many family situations, the survey combined closed-ended response items with questions requiring written responses.
The authors developed the initial questions. Subsequently they were reviewed by other fragile X researchers, several parents of children with FXS, and staff from the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. Revisions were made and reviewed by these individuals. Additional minor changes were incorporated into the final version of the survey.
For each family, a packet was constructed containing 1) a cover letter describing the project, ensuring confidentiality of results, asking mothers and fathers to complete the survey independently, and providing a toll-free number for concerns; 2) separate surveys for mothers and fathers; and 3) separate mailing envelopes for mothers and fathers. Approximately 535 survey packets were mailed. We know that some families in the longitudinal study were also on the FRAXA mailing list and received duplicate surveys. We estimate that 500 unique families received a packet, 299 (59.8%) of whom returned a survey from at least 1 parent. If every family had both a mother and a father living at home, then the potential response pool would be 1000 parents. If this assumption were true (and obviously is not), then a conservative estimate of the response rate for mothers is 57.4% (n = 287) and 34.4% (n = 172) for fathers.
Descriptive statistics and content analyses of written comments were used to answer most research questions. Correlational analyses and logistic regression were used to answer research question 7.
Finding Out About FXS
The first set of questions addressed the age at which 5 critical events occurred for their first child who received a diagnosis of FXS: 1) someone became concerned about the child’s development or behavior, 2) a professional confirmed that the child had significant delays or behavior problems, 3) the child entered an early intervention or special education program, 4) the test for FXS was ordered, and 5) the child received a diagnosis of FXS. For the entire sample, the average age of first concern occurred at 15.6 months, professional confirmation at 25.9 months, entry into special services at 32 months, the FXS test ordered at 56.2 months, and the diagnosis at 60 months. However, there was considerable variability around these means; for example, the average age of diagnosis ranged from 6 months to 30 years. Inspection of the data indicated that this variability was primarily a function of year of birth of the child. Therefore, we divided the group into children who were born before 1990 (n = 124) and those who were born in 1990 or later (n = 133). These numbers are less than the total response sample because some parents did not provide an age for each event. We chose this division because the gene for FXS was discovered in 1991 and the DNA testing became widely available after that time. Results are displayed in Table 1 by year of birth as well as by gender. As predicted, children who were born in 1990 or later were identified much earlier and there was less variability around mean ages of each event. For boys, the average age of diagnosis was 31.5 months and there was an average 18-month gap between first concerns and ultimate diagnosis. A much smaller number of girls is reflected in the study sample. Because girls generally are less affected than boys, it is often not until an affected male child is born that a female child subsequently receives a diagnosis. Girls in our sample were identified with FXS approximately 6 months later than boys, but this likely includes only those girls who are most severely affected. A chart depicting by age the cumulative percentage of children for whom each event occurred (limited to male individuals who were born in 1990 or later) is displayed in Fig 1.
Source of Concern, Presenting Signs, and Professional Responses
For most families (71.2%), a parent was the first person to become concerned about the focal child’s behavior or development. In 7.7% of the cases, another family member, usually a sibling of the parents or a grandparent, raised the concern. In only 10.2% of the cases was a health care professional (defined on the survey as any doctor, nurse, or medical specialist) the person who became first concerned, and in 4.4% of the cases it was a teacher. The remaining 6.6% of the cases were missing (2.9%) or noted a wide range of other sources (3.7%).
When asked to select from a list of problems the 1 main reason for concern, most (84.3%) respondents checked “my child was behind in some areas of development.” Other reasons reported by some parents included behavior problems (7.1%), high levels of activity (4.3%), poor eating habits (4.3%), and dislike of snuggling or being touched (1.4%). Approximately 9.3% of the respondents checked “other” and wrote in a wide variety of other presenting signs. Percentages total to >100% because a few parents reported >1 primary concern.
For the 28 cases in which a health care professional was the first person to raise a concern about the child’s behavior or development, their most frequent recommendations were that the child be referred to a specialist (28.6%) or that additional screening or testing be conducted by a health care professional (17.9%). In 25% of the cases, the health care professional suggested “wait and see—your child’s development might improve.” The remainder of the respondents described a wide range of other recommendations.
Respondents for whom someone other than a health care professional (eg, self, friend, other family member) was the first to become concerned were asked to identify the first place they sought advice. A majority reported that they first went to a health care professional (52.5%) or a specialty clinic (10.1%). An additional 6% described a wide range of other sources, and 34% did not answer the question. When asked what they were told regarding their initial concern, approximately one third (35.7%) did not answer the question. Of the remainder, the most frequently checked response was to wait and see, as the child’s development might improve (28.2%), a figure that was virtually identical for children who were born before (27%) and after (29%) 1990. An additional 18.1% of the respondents reported that the health care professional told them that their child was normal and that there was no need to be concerned, again a figure that did not differ for children who were born before (17%) or after (19%) 1990. Of the remaining responses, 9.2% were told that a child should be referred to a specialist, 4.2% were given a diagnosis other than FXS, 2.5% were recommended to be tested for FXS, and 9.7% listed a wide variety of other responses.
Challenges Experienced by Parents in Getting a Diagnosis
Respondents were asked, “About how many times did you visit any doctor or health care professional about your concerns before a test for FXS was ordered?” Only 17.2% reported that this took 1 to 2 visits. Of the remaining respondents, 28.1% reported 3 to 5 visits, 9.5% reported 6 to 10 visits, 37.6% reported 10 or more visits, and 7.6% did not answer.
Respondents rated the degree of difficulty of several aspects of the process leading to the diagnosis of FXS. Few respondents reported significant difficulty in getting to the doctor’s office or paying for the FXS testing (only 7.3% of respondents indicated that they had to pay for the test themselves). However, significant proportions of respondents indicated that 3 aspects of the process were somewhat or very difficult: waiting for the diagnosis (72.3%), getting health care professionals to agree that something was wrong with their child (58.7%), and having to see so many different professionals (78.5%). Related to the difficulty experienced in seeing many different professionals, only 18.2% of the sample reported that their family physician or nurse first recommended the test for FXS. More common, this recommendation was made by a specialist to whom the family was referred or whom they visited on their own accord, including neurologists (24.8%), geneticists (17.9%), or developmental/behavioral pediatricians (9.1%). Of special interest is that 19.3% of respondents reported that the test for FXS was first recommended by a source not linked to a medical practice or referral, including themselves (6.2%); another family member, usually a sibling or grandparent (7.3%); or a teacher, therapist, psychologist, or other professional/source not linked to a medical practice or referral (5.8%).
Getting Information About FXS After a Diagnosis
Most (85%) respondents reported that they received genetic counseling from a genetic counselor or geneticist about FXS, but some (13.9%) did not. Of those who did, 33.9% received the counseling at the same time as the diagnosis, 14.6% within 1 week, 25.8% between 1 week and 1 month after diagnosis, and 21.5% >1 month after the diagnosis. The remainder did not remember or did not answer the question. When asked to rate the helpfulness of the genetic counseling received, 15.5% indicated that it was not helpful, 45.1% indicated that it was somewhat helpful, and 39.5% indicated that it was very helpful. When asked to select from a list the 1 source from which they learned the most about FXS, the following were indicated: reading materials (41.6%), genetic counselors (29.6%), the Internet (17.9%), other parents (6.9%), and family physicians (3.7%). Although not listed as a separate option, many parents wrote in that the National Fragile X Foundation and the FRAXA Research Foundation were important sources of information.
Perceived Benefits and Challenges as a Result of Diagnosis
Respondents described in an open-ended format the greatest benefit and the greatest challenge of receiving the diagnosis. The most commonly mentioned benefits fell into 2 main categories: 1) finding out the reason for the child’s problems and 2) understanding the child and his or her behaviors and learning the services that were available. Other benefits mentioned less frequently were that the diagnosis enabled parents to find support networks, informed the reproductive decisions of immediate and extended family members, took away the guilt and blame (ie, there was nothing the parents could have done differently; it was not an environmental cause), or enabled parents to educate others and raise their awareness. A few parents responded that getting the diagnosis helped them reframe their perspective on life and family and led to personal growth, improved access to funding for services, or provided hope for a cure. The distribution of responses in these categories and examples of comments made by parents are displayed in Table 2.
With respect to challenges, most responses fell into 7 main categories: 1) experiencing negative emotions (eg, grief, sense of loss, worry, guilt), 2) having to reframe one’s life, expectations for the child, and hopes for the future, 3) dealing with the impact that the diagnosis had on family members, 4) knowing how to best raise the child with FXS, 5) gaining access to information about FXS, 6) gaining access to services, and 7) explaining to others about the disorder. A few parents mentioned that the greatest challenges included the stigmatization of an inherited disorder; personal challenges of being strong, calm, and patient; dealing with insurance companies; reproductive issues for themselves or their children; or not finding support. The distribution of responses in these categories and examples of comments made by parents are displayed in Table 3.
Most (86.9%) respondents reported that their insurance coverage did not change as a result of the diagnosis of FXS. Of the 11% who said it did change, most indicated that insurance companies either turned down their applications or canceled coverage after learning the diagnosis or that policies would not cover therapies for the affected child. Some parents noted their insurance company told them that because FXS is a genetic disease and not curable, they would not pay for therapies (ie, it was not curable, thus it would not get better and was not treatable). Only 1 family mentioned having the opposite experience of getting more services paid for with a diagnosis. In 1 case, discriminatory practices extended beyond the child to the parents. One mother reported that she was denied obstetric and gynecological services when she revealed her carrier status. On the more positive side, the diagnosis enabled some families to obtain coverage through Medicaid, and in 1 case, the FXS diagnosis allowed a son to remain covered under his father’s insurance policy after he turned 18.
Accounts from parents who did not report insurance changes are also telling. Two mothers noted that insurance companies typically would not pay for Norplant or tubal ligations but did so in their cases because they were carriers. Other families wrote that their insurance did not change, but they had to fight to keep coverage. Still others delayed getting an official diagnosis or did not inform the insurance company of the diagnosis to get or keep coverage.
Most (93.8%) respondents reported that someone had to inform extended family members about the possibility that they too might be carriers of FXS. Of these, 91% reported that they or their spouse were the ones who told extended family members. Fewer than 7% indicated that a professional conveyed this information. Of the parents who told other family members, 30.8% rated this experience as not so stressful, 34.4% as somewhat stressful, and 34.8% as very stressful. A majority (70.8%) reported that at least 1 extended family member sought testing for FXS because of their child’s diagnosis.
Parents who wrote about their experiences of telling family members described a number of dilemmas and issues involved. Some indicated no problems and that their families were supportive and went for testing. Although they found the possibility of being carriers distressful, they were glad to have the information. The majority of respondents, however, had more stressful experiences. The most common response in relatives was denial and refusal of testing. Family members did not want to know, became defensive, were not interested, were reluctant to accept the diagnosis, could not deal with it, could not believe that there was something wrong in the family line, or were angry at being informed. In many of these families, there was differential response and acceptance. Some families’ members denied the diagnosis and its implications, but others acted on the information and got tested, although some struggled with which child to test and when to test him or her. Some respondents also indicated that it was difficult to explain the syndrome and the pattern of inheritance. Not all family members could understand the genetics of fragile X. In a number of cases, informing relatives created or intensified rifts in family relationships, sometimes resulting in relatives’ refusing to speak to the carrier who informed them. In rare cases, the news created rivalry between the sibling with the “good X” and the one who was a carrier, or created “survival guilt” in the unaffected sibling. Another major effect of informing relatives was fear as family members wondered whether they and their children inherited the gene, and guilt and anguish in those who learned that they were carriers who passed on the gene.
When asked whether they had another child before they found out about the diagnosis of FXS in their first child, 55.5% responded yes. This was somewhat less likely for parents of children who were born in 1990 or later (50%) compared with parents of children who were born before 1990 (61.2%). For the 121 families who provided information about these additional children, a total of 191 children were born after the birth of their first child with FXS but before any diagnosis. Of these, 67 were normal with respect to FXS, 109 had the full-mutation FXS, 7 were premutation carriers, and 8 had not been tested.
Respondents were also asked whether learning about the diagnosis of FXS affected their decision to have another child, to which 59% indicated “yes.” The vast majority of parents who marked “yes” indicated that they decided not to have more children, mainly because they did not want to take the chance of having another child with FXS. Some further explained that raising 1 child with FXS was challenging enough that they wanted to devote their time to the affected child or that they were not emotionally or financially able to risk having another affected child. A few noted that they did not want to face decisions about genetic testing or abortion. Several mothers wrote that they had tubal ligations when they learned of the diagnosis.
Other parents had not ruled out having children, but their decisions were affected nonetheless. Some wrote that they were delaying having more children or were unsure. A few indicated that they had or would have prenatal testing for FXS or that they had pursued or were considering using reproductive technologies (eg, preimplantation genetics, egg donors).
For the most part, parents who indicated that the diagnosis did not affect their reproductive decisions wrote that they had already decided not to have more children or they only found out when they were too old to have more children. However, 21 families had additional children after the diagnosis of FXS. Of these, 5 were full mutation, 1 was a carrier, 23 were normal with respect to FXS, and 2 had not been tested or the results were not reported. A few parents noted that they did not know the FXS diagnosis but made the decision not to have more children because of the problems of the affected child. Only 1 parent indicated that reproductive decisions were not affected because he or she were pro-life and did not believe in prenatal testing. A few parents revealed their ambivalence on this issue. They wrote that they were glad that they did not know the diagnosis before having more children because they probably would not have chosen to risk it.
Predictors of Family Experiences
Finally, we were interested in the extent to which selected child factors (gender, year of birth, and nature of presenting problem), family factors (income, education, and ethnicity), and systems factors (perceived quality of health care, place and payer of routine care, and source of referral) affected selected family outcomes. Three variables were considered outcome variables: 1) age in months of the FXS diagnosis, 2) length of time between first concerns and the FXS diagnosis, and 3) the number of visits to a physician before the FXS test was ordered. A correlation matrix was initially constructed in which Pearson correlation coefficients were used to examine the interrelationships among the predictor and outcome variables. We also used a general linear models procedure in which all predictor variables were entered to test independent and combined predictive capabilities for each outcome.
It was evident from the descriptive analyses that year of birth had a major impact on the timing of the FXS diagnosis. The discovery of the gene in 1991, the development of a rapid and accurate DNA test, and increased awareness about FXS undoubtedly have influenced the societal context within which FXS is now discovered. We made a determination that the only informative analysis of potential predictors of family experiences would be the experiences of those families whose children were born more recently. Thus, these analyses were restricted to the respondents whose children were born in 1990 or later.
None of the child, family, or systems variables were correlated with the 3 outcomes of interest. This finding was also true for the general linear models analysis.
This article describes the experiences of 274 families who thought that they had given birth to a normal child, only to discover later that the child had FXS, a genetic disorder with serious consequences for both child and parents. We wanted to know how families came to discover FXS, their perceptions of the challenges and benefits of the diagnosis, and the consequences for children and families. Drawing on several samples of convenience, we mailed surveys to approximately 500 families, 59.8% of whom responded. After limiting the sample to 1 respondent per family and eliminating nonbiological parents and those who knew before birth that they were carriers of FXS, we had 274 usable surveys. Because respondents were from selective groups (ie, families on a mailing list for a foundation and families participating in a research project), they are not likely representative of the population as a whole. Demographic data suggest that respondents are more well educated and affluent than the typical American citizen and do not reflect the nation’s cultural diversity. Thus, generalizations to all families may not be warranted. Nonetheless, the sample size is substantial, with a range of income and education levels. It is likely that the data reported reflect the most optimistic scenarios for early identification, as most of these respondents had the resources and education needed to gain access to services that could lead to a diagnosis.
Parents reported that male individuals who had FXS and were born in 1990 or later were identified with FXS at an average age of 31.5 months. However, there was considerable variability around this mean, and at least 1 child was not identified until 8.4 years of age. On average, the diagnosis occurred >18 months after someone first became concerned about the child’s development. Eligibility for special education services occurred earlier than the FXS diagnosis, typically at approximately 2 years of age as a result of the diagnosis of a developmental delay.
Parents were usually the first to notice something amiss, typically at approximately 12 to 13 months of age as a result of delays in the attainment of developmental milestones. Their family physician or pediatrician was usually the first person to whom they turned for help. Nearly half (46.3%) reported that when they first expressed a concern, the physician’s response was either to affirm that the child was indeed normal or to suggest that it was too early to tell and parents needed to “wait and see.” Nearly 60% reported that it was somewhat or very difficult to get health care professionals to agree that something was wrong with their child. Repeated visits to the physician were needed during an average period of 7 to 8 months before professional affirmation of any kind of problem at an average of 20.7 months. Eleven months typically elapsed between professional confirmation of a delay and the diagnosis of FXS, and more than one third (37.6%) of the respondents reported that >10 visits were required before the diagnosis of FXS. In the vast majority of cases, the recommendation for FXS testing did not come from the pediatrician or family physician, thus adding to the delay.
Families generally expressed a combination of relief and distress at the diagnosis. Most said that the diagnosis finally put an end to the search for a reason for their child’s problems and provided important information about reproductive risk that they wished they had known earlier. Challenges were inevitably experienced, including personal distress, guilt, worry about the future, and difficulties in sharing this information with extended family members. However, most families were glad to come to some resolution about the cause and, despite these challenges, believed that the information was essential. It is interesting that only a few families reported negative consequences with respect to health insurance, but the extent to which families withheld this information from insurance companies is unclear. Some obviously did, and some families did report problems with insurance companies, so the diagnosis could be more problematic in this regard than evidenced by the survey results.
The delays associated with the determination of developmental problems and the diagnosis of FXS had real consequences that could have been averted had children been identified at birth. The average male child did not begin receiving early intervention or special education services until 2 years of age. Under Part C of the Individuals With Disabilities Education Act, however, had these children been identified through newborn screening, they would have been eligible immediately for early intervention services in every state under the “established conditions” mandate, even if they did not at the time exhibit any developmental delay. Research consistently shows that early intervention can be beneficial for children with a wide variety of developmental disorders,32 that families can benefit as well from early intervention and family support services,33,34 and that families are generally highly satisfied with existing early intervention programs.35 Although efficacy studies of early intervention for children with FXS need to be conducted, a sufficient body of evidence exists to make the argument that earlier intervention has the possibility of a direct benefit for child development and family adaptation.
A major consequence is that more than half of the families had additional children without knowledge of reproductive risk. Of the 191 children who were born to these families after the birth of their first child with FXS but before the FXS diagnosis, 109 (57%) had the full-mutation FXS. Thus, a substantial proportion of families ended up with 2 children with the disorder, imposing additional caregiving demands and potential stress. Once the diagnosis was made, most families decided against having additional children.
How acceptable is the current scenario for discovering FXS? This study shows that parents perceive the discovery of FXS as a process that takes too long, primarily as a result of their perception that the pediatrician or family physician is reluctant to acknowledge a developmental problem or is not knowledgeable enough about the various causes of disability to know when to refer children for specific genetic tests. This is certainly not the situation in all cases but is an accurate reflection of the general sentiment of this set of respondents. One solution, of course, involves training of pediatricians and systemic changes in pediatric practice that encourage and allow the kinds of parent–pediatrician interactions that would facilitate earlier identification. As described earlier, 2 key components of this process would be to place more credence on the validity of parents’ concerns2 and incorporating regular developmental screening in pediatric practice instead of developmental surveillance.16
This study shows, however, that even if pediatricians responded to every concern raised by a parent and used developmental screening for every infant, the average child’s age at first concern is still >13 months. Assuming that the child was administered a developmental assessment immediately, in the absence of a genetic test, if developmental testing did not show a delay substantial enough to meet state criteria for early intervention, then the child and family still would not be eligible for services. If a delay were detected and a fragile X test was ordered immediately, then it still likely would not be until an average of 18 months of age that a diagnosis could be obtained. Although a significant improvement over the current scenario, children would still be missing more than a year of early intervention services and many families would have conceived additional children.
One alternative is to establish a program of newborn screening for FXS and other disorders as they are discovered and the necessary laboratory procedures are developed. However, this proposal is challenging to a public health system that typically requires the demonstration of a clear medical benefit to the infant before establishing screening as public policy7 and also raises a host of ethical questions. Despite these challenges, however, current strict criteria for newborn screening will inevitably be challenged in the coming years, especially in light of recent arguments suggesting that genetic information should be construed as a “medical necessity.”36
Perhaps as a society we will need to accept this level of uncertainty and risk. In the meantime, more research is needed to determine the earliest developmental patterns in FXS and test the efficacy of various models of early intervention (a challenging task for researchers because very few children are identified early enough to conduct these studies). Consumer perspectives and experiences such as those reported in this study should serve to inform this debate.
This research was funded in part by grant H324C990042, Office of Special Education Programs, US Department of Education.
We express our appreciation to the FRAXA Foundation, the National Center for Birth Defects and Developmental Disabilities of the Centers for Disease Control and Prevention, and the parents who helped with various aspects of this study.
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- Copyright © 2003 by the American Academy of Pediatrics