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Journal of Genetic Counseling, Vol. 15, No. 1, February 2006 (

c 2006)
DOI: 10.1007/s10897-005-9002-7

Original Paper

Parental Perspectives on the Causes of an Autism Spectrum

Disorder in their Children

L. Mercer,1,2 S. Creighton,1,2 J. J. A. Holden,2,3 and M. E. S. Lewis1,2,4

Published Online: 18 March 2006

Autism Spectrum Disorders (ASDs) are complex neurodevelopmental disorders with many
biological causes, including genetic, syndromic and environmental. Such etiologic hetero-
geneity impacts considerably upon parents’ needs for understanding their child’s diagnosis. A
descriptive survey was designed to investigate parental views on the cause(s) of ASD in their
child. Among the 41 parents who replied to the questionnaire, genetic influences (90.2%),
perinatal factors (68.3%), diet (51.2%), prenatal factors (43.9%) and vaccines (40.0%) were
considered to be the most significant contributory factors. Parents reported inaccurately high
recurrence risks, misperceptions of the contribution of various putative factors, feelings of
guilt and blame regarding their child’s diagnosis, as well as a lack of advocacy for genetic
counseling by non-geneticist professionals. This study offers clinicians and researchers fur-
ther insight into what parents believe contributed to their child’s diagnosis of ASD and will
help facilitate genetic counseling for these families.
KEY WORDS: autism spectrum disorder; ASD; autism; pervasive developmental disorder; PDD; ge-
netic counseling; parental perspectives; etiology; genetics; recurrence risk; family history.

INTRODUCTION found under the DSM-IV classification for PDDs

The autism spectrum disorders (ASDs) repre-
sent a group of pervasive developmental disorders
(PDDs), characterized by impairments in communi-
cation and social interactions, as well as restricted,
repetitive and stereotyped patterns of behavior.
Autistic disorder (commonly referred to as autism),
pervasive developmental disorder-not otherwise
specified (PDD-NOS), Asperger disorder, Rett
disorder and childhood disintegrative disorder are
1
Department of Medical Genetics, The University of British
Columbia, Vancouver, British Columbia, Canada.
2
Autism Spectrum Disorders Canadian-American Research Con-
sortium (ASD-CARC), Kingston, Ontario, Canada.
3
Departments of Psychiatry and Physiology, Queen’s University,
Kingston, Ontario, Canada.
4
Correspondence should be directed to M. E. S. Lewis, Depart-
ment of Medical Genetics, The University of British Columbia
and B.C. Children’s and Women’s Health Center, C234, 4500
Oak Street, Vancouver, British Columbia V6H 3N1; e-mail:
slewis@cw.bc.ca.
(American Psychiatric Association, 1994). The first
three of these diagnoses are collectively referred
to as ASDs, which as a group affect at least 1/250
(Gillberg and Wing, 1999) to 1/500 (Fombonne,
1999) individuals with a male:female ratio of 4:1
(Bryson et al., 1988; Smalley, 1991).
The precise etiological factors which predispose
a child to ASDs are not fully understood although
extensive investigations using the traditional meth-
ods of behavioral genetic analysis (family, twin
and adoption studies; quantitative trait loci (QTL);
biometric model fitting) have clearly substantiated
a predominant role for genetic influences in autism
over the years (Lewis, 2002; Muhle et al., 2004).
Individuals with an ASD often have a positive family
history of the same (Piven et al., 1990). In addition,
positive family histories are often noted for autoim-
mune (Comi et al., 1999; Sweeten et al., 2003) and/or
psychiatric disorders (Piven et al., 1990; Smalley
et al., 1995; Bolton et al., 1998; Piven and Palmer,

41
1059-7700/06/0200-0041/0

C 2006 National Society of Genetic Counselors, Inc.

42
1999), implicating a potential common biologic link
with the etiology of ASDs. Theories purporting
environmental etiologies have been raised including
prenatal and perinatal factors (Comi et al., 1999;
Juul-Dam et al., 2001; Zwaigenbaum et al., 2002), diet
(Reichelt et al., 1990; Whiteley et al., 1999; Knivsberg
et al., 2002), and childhood vaccinations (Wakefield
et al., 1998). However, scientific evidence has either
been inconclusive (Wing and Potter, 2002) or in the
case of the MMR vaccine, has excluded them as
likely etiologies (Peltola et al., 1998; Kaye et al., 2001;
DeWild et al., 2001; Hviid et al., 2003; Honda et al.,
2005).
To date there have been two papers (Elder,
1994; Gray, 1995) and two abstract publications
(Rosen et al., 2000; Rosen-Sheidley et al., 2002) that
have examined the beliefs of parents regarding the
possible causes of ASD in their children. These be-
liefs may adversely impact parent–child relationships
and acceptance of their child’s condition (Elder,
1994; Gray, 1995). In the first descriptive paper
on this subject, Elder (1994) observed that genetic
transmission, prenatal factors or exposures affecting
the fetus, and postnatal factors in infancy (such as the
occurrence of high fevers) were commonly believed
by parents to underlie the etiology of autism. Gray’s
(1995) qualitative analysis of the views of parents
of autistic children found that they attributed their
child’s ASD to a variety of potential factors including
birth trauma, heredity, illnesses, perinatal damage,
and vaccinations, with most parents offering more
than one explanation for the presence of autism in
their child/children. In a web-based survey, which
evolved as a more extensive version of an earlier
study by Rosen et al. (2000), Rosen-Sheidley et al.
(2002) reported that genetics (85%), vaccinations
(31%) and other environmental factors (33%) were
implicated as possible causes of autism by relatives
(parents as well as other relatives) of an affected
individual.
The aims of the current study were to assess cur-
rent parental beliefs regarding the etiology of ASDs
in their offspring, as well as general perceptions re-
garding the role of genetics and estimated recurrence
risks for the ASDs. Results of this pilot study will in-
form the development of a subsequent survey to be
administered to a larger group of parents. It is antici-
pated that information from the study may ultimately
help health care providers and researchers identify
gaps in parental knowledge as well as misconceptions
surrounding the causes, genetic influences and recur-
rence risk for the ASDs. In addition, we aim to iden-
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Mercer, Creighton, Holden, and Lewis
tify areas of research felt to be priorities for parents
of children with ASDs.
METHODS
Participants
The study surveyed a group of parents with
at least one child diagnosed with an ASD. Parents
were recruited between October 2003 and Febru-
ary 2004 through various organizations in Canada
and the United States who advertised the study
on their websites and included the URL link to
the online questionnaire. These organizations in-
cluded the Autism Society of New Brunswick, the
Autism Calgary Association, Autism Society Ontario
(Halton Chapter), Autism Society of BC, and Autism
NWT (Northwest Territories). Families were also
invited to participate online through an announce-
ment in a newsletter to families participating in re-
search being carried out by ASD-CARC (Autism
Spectrum Disorders—Canadian-American Research
Consortium; www.autismresearch.ca). The online re-
sults were held within a database accessible to the
primary author. The study was approved by the Be-
havioral Research Ethics Board of the University of
British Columbia.
Parental Perspectives on ASD Questionnaire
The pilot questionnaire was developed on
the basis of literature review of current etiological
theories, published information on beliefs of parents
regarding their child’s ASD, and input from re-
searchers from the ASD-CARC (including a Parent
Advisory Group). The questionnaire was reviewed
with the Parent Advisory Group to determine if the
questions were understandable, non-ambiguous, and
that the content adequately reflected the issues felt
to be important (in their experience) for parents of
children with an ASD. Questions in the survey con-
sisted of various format types such as fill in the blank,
dichotomous, Likert response, cumulative/Guttman,
nominal, and open-ended. The questionnaire was
divided into the following sections: (i) Demograph-
ics, (ii) Parental beliefs on the etiology of ASDs:
genetics and family history, prenatal and perinatal
factors, vaccinations, dietary factors, (iii) Perceived
recurrence risks and (iv) Research. The etiologies
represented in the questionnaire included current
theories, despite some being inconclusive or unlikely.
The authors included a statement noting that their

Parental Perspectives on the Causes of Autism in their Children
inclusion did “not imply that they play a role in
ASD.” Space for comments was provided at the end
of some sections.
Data Analysis
Quantitative information was entered into a
database. For nominal data (i.e. presence or absence
of a particular event), a chi-square analysis was per-
formed. SPSS was used to analyze results and gen-
erate p values. A chi-square test could not be used
to establish relationships amongst questions, as the
sample size was too small.
Many respondents provided brief responses to
open-ended questions and comments. The responses
were analyzed by content analysis, a method of clas-
sifying the numerous words of the text into a few con-
tent categories (Kelly and Sime, 1990) which are then
quantified. Content analysis, because it uses the data
in its original form, is context sensitive, so that the
data are not separated from the symbolic meaning
they have for the subject. This process was under-
taken separately by two members of the team to en-
sure non-bias and to examine inter-rater reliability.
RESULTS
Demographics
Forty-one surveys were completed. Of the 41
children about whom the responses were received,
33 (80.0%) were male and 8 (20.0%) were female,
in keeping with an expected 4:1 male to female sex
ratio. The age of the children ranged from 1 to 25
years (only three were adults: two aged 18 years and
one aged 25 years), with a median age of 8.9 years.
The breakdown of diagnoses provided by the fam-
ilies was as follows: Autistic disorder: 53.7%; As-
perger disorder: 14.6%; “High functioning autism”:
9.8%; PDD-NOS: 9.8% and an otherwise undefined
ASD in 12.2%. None of the children had been diag-
nosed with a genetic condition; however none had
been assessed by a geneticist. Four were born with
congenital birth defects (two with congenital heart
disease, one with arthrogryposis and one with pyloric
stenosis). In all but two families, no specific cause for
autism had been identified by a health care profes-
sional. In the two families where a cause was reported
to be known, one reported that their child’s physi-
cian felt he was “vaccine damaged” and the other re-
ported that complications of a twin pregnancy and
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43
extreme premature delivery were most likely causal
factors.
Thirty-eight of the questionnaires were com-
pleted by mothers, and an unspecified biological par-
ent completed the remainder. The primary language
spoken in all homes was English, with one family
also speaking French. Thirty-seven (90.2%) of the re-
spondents were Caucasian, and the remainder were
Caucasian/African American, Caucasian/Arab and
Filipino. Participants included those from Ontario
(19), Nova Scotia (11), Alberta (3), USA (3), British
Columbia (2), New Brunswick (2) and the Northwest
Territories (1).
Not all participants answered all the ques-
tions; therefore the total number of respondents for
any given question varies. For questions pertaining
to perinatal factors, postnatal factors and vaccina-
tions, parents were permitted to provide multiple re-
sponses.
Parental Beliefs Regarding the Etiology of ASD
Multiple etiologies were believed to be involved
in ASD, as reported by the majority of parents
(37/41, 90.2%) in the study.
Genetics and Genetic Counseling Issues
Most parents (37/41, 90.2%)) believed genetics
contributed to ASD in their child, although less than
half (17/41, 41.5%) had a genetic basis for the ASDs
explained to them by a health care professional. The
magnitude of a genetic contribution was felt to be
high (51–75% or 76–100%) by 22 of 36 (61.1%) re-
spondents (Fig. 1), which may reflect the incidence
of having a positive family history for autism also be-
ing reported (see below under Family History). One
quarter of respondents (9/35, 25.7%) believed ASDs
would ultimately be found to be caused by a single
gene.
Genetic Counseling Issues. When asked about
the impact of a diagnosis of an ASD on family
dynamics, several pertinent genetic counseling issues
emerged. The family dynamics were noted to have
been affected by the perceived genetic component
of ASD in about one third (13/41, 31.7%) of families
(22 felt there was no effect on family dynamics and
6 did not answer the question). Not surprisingly, 9
of these 13 parents felt the genetic contribution to
ASDs was high. These 13 parents provided brief

44
Fig. 1. The perceived magnitude of genetic contribution to ASDs
amongst 36 parent respondents of a child with an ASD.
comments which fell into four categories (two
responses fell into two categories):
1. Reproductive risks (five parent reports): Re-
currence risks appeared to have altered re-
productive decision making in these families,
not just for the parents but for other family
members as well. For example: “. . .everyone
on father’s side of the family is terrified to
have children”; “My youngest sister (who has
some ASD traits) is concerned about her risk
and may not have children”; “The child’s fa-
ther had a vasectomy.”
2. Transference (five parent reports): Following
the diagnosis of an ASD, there was transfer-
ence of ASD signs and symptoms to other
family members. For example: “After my
son’s diagnosis, I realized my father’s condi-
tion”; “My family has started to question the
REAL reasons for my father’s drug/alcohol
addition and whether it can shed light on my
son”; “I believe [my husband] also sees some
of the traits in himself.”
3. Guilt (four parent reports): Another com-
mon feeling among family members was guilt
that they may have contributed genes causing
their child’s ASD. For example: “. . . every-
one is upset that they could have contributed
to my son’s problem,” “It makes my hus-
band very uncomfortable because he thinks
he might be blamed.” (This comment was not
felt to represent “blame,” which we consider
an externally directed factor).
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Mercer, Creighton, Holden, and Lewis
4. Blame (one parent report): For one family, it
was felt that each side of the family was blam-
ing the other.
Family History
Twenty-five of 41 respondents (61.0%) had at
least one other relative with traits compatible with
the broader phenotype of autism (Dawson et al., 2002;
Folstein et al., 1999) or a confirmed ASD diagnosis.
In 11 of these families there was an affected first de-
gree relative (7 siblings, 4 parents) either diagnosed
or suspected of having an ASD. Twenty of the 25
parents (80.0%) believed that the family history was
associated with their own child’s ASD; 2 felt it was
not associated and 3 did not answer the question.
Of these 20 parents, 1 thought the association was
due to shared environmental influences, while 17/20
thought it was due solely to underlying genetic fac-
tors. Interestingly, the other two parents felt that
this was neither because of a shared environment
nor because of genetic factors, but did not elaborate
on how they felt the family history of ASD resulted
in ASD in their children. Twenty-eight respondents
(68.3%) indicated that they had at least one relative
with an autoimmune disorder, the most common dis-
orders being rheumatoid arthritis and psoriasis, fol-
lowed by hypothyroidism/thyroiditis and Crohn’s dis-
ease/ulcerative colitis (Fig. 2). Several participants
reported type 1 diabetes, systemic lupus erythemato-
sis and multiple sclerosis, while myasthenia gravis
and vasculitis were each reported by one participant.
Five of the 28 parents (17.9%) believed their posi-
tive family history for an autoimmune disorder was
related to the cause of their child’s ASD.
Thirty-one parents (75.6%) stated that at least
one relative had a psychiatric disorder (Fig. 3).
Depression was seen in 64.5% (20/31) while ap-
proximately one third of families reported each of
the following: alcoholism (38.7%), anxiety disorder
(38.7%), schizophrenia (32.3%) and ADHD/ADD
(29.0%). Fourteen parents (45.2%) believed a posi-
tive family history of a psychiatric disorder was re-
lated to the cause of their child’s ASD.
Prenatal and Perinatal Factors
Eighteen parents (43.9%) felt that prenatal ma-
ternal risk factors contributed to their child’s ASD,
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Parental Perspectives on the Causes of Autism in their Children 45

Fig. 2. The number of respondents for which a family history of a specific autoimmune disorders were
reported amongst the 28 parents of a child with an ASD.

including advanced maternal age (6), smoking (4), Vaccinations

influenza (4), prescription medications (3), maternal
vaccination (3), uterine bleeding (2), toxemia (2),
street drugs (1), upper respiratory infection (1) and
genital herpes (1).
Twenty-eight parents (68.3%) indicated that
specific perinatal events contributed to their child’s
ASD. These included severe trauma or injury during
birth (8), fetal distress or anoxia (8), premature la-
bor or premature rupture of membrane (6), low birth
weight/premature birth (6), induced labor (5), hyper-
bilirubinemia (5), requirement for oxygen after birth
(3), emergency cesarean section (3), blood group in-
compatibility (3), resuscitation/ventilation (2), respi-
ratory distress syndrome (2), anemia (2) and infec-
tion after birth (1).
All but 1 of the 41 children with ASD had
received vaccinations. Sixteen (40.0%) of the im-
munized children’s parents believed that vaccines
were responsible or contributed to their child’s ASD
versus 21 (52.5%) who did not (two did not an-
swer the question and two were unsure). Parents
were then asked to indicate which vaccinations they
thought could have played a role in their child’s
ASD (they could choose more than one). The vac-
cines included measles/mumps/rubella (MMR), Po-
lio (IPV), hemophilus influenza B (HiB), Hepatitis
B, diphtheria/pertussis/tetanus (DTaP/DTP), diph-
theria/tetanus (DT) and meningitis. One third of par-
ents (13/40, 32.5%) felt the MMR vaccine played a

Fig. 3. The number of respondents for which a family history of a specific psychiatric dis-
orders were reported amongst the 31 parents of a child with an ASD.
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46 Mercer, Creighton, Holden, and Lewis

role although, interestingly, 10 of these parents felt

that other vaccines were also responsible. Each of
the other vaccines listed in the questionnaire, ex-
cept the chicken pox vaccine, was implicated at least
once by parents. With the exception of four families
(three citing MMR, one citing DTaP/DTP), another
vaccine was also implicated. One parent commented
that “vaccinations in general could stress an immune
system that has abnormalities.”

Fig. 4. Summary of the relative genetic recurrence risk for an

Dietary Factors ASD reported amongst 37 families with an affected child. N: num-
ber of parents responding.
Twenty-one parents (51.2%) believed that diet
was a contributory factor to their child’s ASD. Given
three options regarding food containing casein and of a genetic basis for ASD, 17/38 (44.7%) said it
gluten, 21/41 (51.2%) answered “I believe intoler- had been addressed. Developmental pediatricians
ance to these foods is a contributory factor in ASD”; and psychologists were the professionals found most
7/41 (17.1%) answered “I believe my child is intoler- likely to raise the possibility of a genetic basis for an
ant to these foods because of ASD”; and the remain- ASD with the parents. However, without exception
ing 13/41 (31.7%) chose, “I do not believe there is a the families indicated that they had not been referred
connection between these foods and ASD.” Twenty- to either a medical geneticist or a genetic counselor
seven parents (65.9%) said they had altered their for consultation after their child had been diagnosed.
child’s diet and of those, 10 (37.0%) subjectively
found a difference in behavior. One parent noted
that her child experienced panic attacks on the diet Research
and another indicated she believed the diet was re-
sponsible for an eating disorder. All but one respondent indicated that they sup-
ported genetic research in ASDs, many for multi-
ple reasons. Most (31/40, 77.5%) wanted such re-
Perceived Recurrence Risks search to help identify biochemical factors linked
with ASD. Two-thirds (27/40, 67.5%) felt it would be
Parents were asked what they thought their re- helpful for early diagnosis and thus early interven-
currence risk for a child with an ASD would be re- tion. Half (20/40, 50.0%) wanted research that would
gardless of whether they were planning more chil- more accurately confirm or refute a diagnosis, half
dren. Although almost one third of the 37 parents (20/40, 50.0%) for determining recurrence risks, and
who answered this question believed the recurrence
risk to be less than 25%, the majority (67.5%) be-
lieved recurrence risks to be higher, with four par- Table I. Perception of Recurrence Risk for ASDs Compared with
Degree of Relationship of Affected Relatives
ents believing that the recurrence risk was more than
75% (Fig. 4). We were interested in seeing if this per- Families Families Families
with with other with no
ception was influenced by the number of closely re-
Perceived first-degree affected affected
lated relatives, or by the number of family members, recurrence relativea relativeb relatives
who had an ASD. Table I shows that the degree of risk (%) (N) (N) (N) Totalc (N)
perceived recurrence risk was not affected by a posi- 0–25 3 3 6 12
tive family history, or the degree of relatedness. Most 26–50 2 7 4 13
families without a family history overestimated their 51–75 2 2 4 8
recurrence risk (9/15). It is also apparent that the per- 76–100 3 0 1 4
a Siblings
ceived recurrence does not increase relative to the or parents.
b Second degree or third degree (1/2 siblings, uncles, aunts, cousins,
number of affected family members (Table II).
grandparents).
When asked if a health care professional car- c Four respondents did not provide information.
ing for their child had ever raised the prospect

Parental Perspectives on the Causes of Autism in their Children
Table II. Perception of Recurrence Risk for ASDs Compared
with the Number of Affected Relatives in a Family
Perceived No One Two
recur- affected affected affected Three
rence risk relatives relative relatives affected
(%) (N) (N) (N) relatives
0–25 6 4 2 1
26–50 4 3 4 1
51–75 4 1 1 1
76–100 1 0 2 1
one-quarter (10/40, 25.0%) for prenatal testing.
Genetic research was morally supported by 36/40
(90.0%) of respondents, though concerns were ex-
pressed by 16/40 families. Twelve had reservations
regarding the potential for this information to be
used for pregnancy termination (including three of
the four who did not morally support genetics re-
search), and four felt that research in any one area
might detract from research in other areas.
DISCUSSION
The need to understand and make sense of a dis-
ability or serious illness is critical as a coping mech-
anism for the individual, their family, and others in
the illness experience. The reasons for wanting a di-
agnosis have been previously reported in published
surveys of parents whose children were diagnosed
with various medical conditions (Lippman-Hand and
Fraser, 1979; Sorenson et al., 1981; Strauss and
Munton, 1985; Elder, 1994; Gray, 1995; Rosenthal
et al., 2001). The findings have indicated that parents
want to know about 1) etiology, in order to establish
responsibility and to prevent recurrence; 2) natural
history (prognosis); 3) treatment options; 4) access
to special services; 5) contact with other parents of
affected children; 6) how to seek advice and infor-
mation and means for discussing the condition with
others; and 7) appropriate parenting. Obtaining the
diagnosis of ASD in a child satisfies some of these
needs. However, what remains notably unanswered
is the issue of etiology.
In the absence of a specific etiology for ASDs,
and a tendency among parents of children with a dis-
ability to feel a strong sense of guilt (seen in our
study and those of Gray, 1995 and Elder, 1994), it
is not surprising that parents attempt to form their
own explanations for the disorder in order to cope
with the diagnosis. We have seen evidence of this in
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47
More than
three
affected
relatives
0
1
0
0
Fig. 5. Comparison between Gray (1995) and the present study
of parent perceptions of causative factors in their child’s ASD.
the current study, with parents citing genetic, peri-
natal, prenatal and dietary factors, as well as immu-
nizations, as issues contributing to the cause of their
child’s disorder, even though some of these causes
are not substantiated. Our results are compared with
those of Gray (1995) in Fig. 5. While prenatal and
postnatal events were implicated similarly in both
studies, genetic factors and vaccinations were cited
as etiological factors more frequently in the current
study. In the case of vaccinations, this is likely a re-
flection of the public debate which has raged since
Wakefield et al.’s (1998) initial report of a possible
association, which was published after Gray’s study.
Despite evidence that vaccinations are not associ-
ated with ASDs (Peltola et al., 1998; Kaye et al.,
2001; DeWild et al., 2001; Hviid et al., 2003; Honda
et al., 2005), some parents still clearly feel they can-
not be dismissed as playing a role in their child’s
disorder.
Parents in our study, as well as those of Gray
(1995) and Elder (1994), felt that perinatal and
prenatal factors (including maternal illness, sub-
stance abuse and maternal vaccination) were im-
plicated in ASD causation. Several studies have
suggested that there is a higher rate of adverse
prenatal and postnatal events in children later di-
agnosed with autism than in the general popu-
lation (Comi et al., 1999; Juul-Dam et al., 2001;
Zwaigenbaum et al., 2002). Although minor obstet-
ric complications may be more common in indi-
viduals with ASD, there is little evidence to sug-
gest that such perinatal complications play an eti-
ological role in the development of ASD. Recent
studies suggest that such complications are more

48
likely to be secondary consequences related to the
determinants underlying ASD causation (Bolton
et al., 1997; Zwaigenbaum et al., 2002). In the
present study, the most common prenatal factor
of concern expressed by parents was advanced
maternal age. Whether this reflects the parent’s
knowledge of findings suggesting that the risk of
autism in a child may be increased with increas-
ing maternal age (Tsai and Stewart, 1983; Bolton
et al., 1997; Croen et al., 2002), or that obstet-
rical complications are more common in women
who have an advanced maternal age (Abu-Heija
et al., 2000; Weerasekera and Udugama, 2003), is
unclear.
The excess opioid theory suggests that ASD
is caused by the incomplete breakdown and exces-
sive absorption of casein and gluten from foods
(Whiteley et al., 1999). While 37% of parents sur-
veyed in the present study who had altered their
child’s diet felt that a casein- and gluten-free diet
led to improvement in their child, other studies have
indicated reports of success rates by parents in up
to 67.0% of cases (Whiteley et al., 1999). At this
time, the data for a dietary etiology in ASDs is
inconclusive.
In stark contrast to the lack of evidence of
causality in ASDs for perinatal factors, diet, prena-
tal factors and vaccinations, the evidence for genetics
playing a significant role in the etiology of ASDs is
substantial, although the precise genetic mechanisms
have yet to be delineated (Lewis, 2002; Muhle et al.,
2004). In our study, just under half of parents (41.5%)
indicated a genetic basis had been raised by a health
care professional, possibly reflecting a lack of aware-
ness of the genetic basis of ASDs. Clearly, and de-
spite it not having been explained to them, most of
the families in our study (90.2%) felt genetic factors
were important, and nearly two-thirds felt this contri-
bution was high. Several associated a positive family
history of ASD, and in some cases a family history of
psychiatric disorders or autoimmune disorders, with
their child’s ASD. Interestingly, researchers have
previously identified a positive family history of the
following disorders as important in the etiology of
ASDs: (i) ASD: Piven et al., 1990; Gillberg et al.,
1992; Piven et al., 1997; Bolton et al., 1998; (ii) au-
toimmune disorders: Comi et al., 1999; Sweeten et al.,
2003; and (iii) psychiatric disorders: Piven et al., 1990;
Smalley et al., 1995; Bolton et al., 1998; Piven and
Palmer, 1999. In addition, the recurrence risk for
ASDs was likely overestimated by many, and grossly
overestimated by some of the participants in this
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Mercer, Creighton, Holden, and Lewis
study, irrespective of the number or degree of rela-
tionship to other affected family members. While a
recurrence risk of 2–8% for autistic disorder is gen-
erally accepted (Muhle et al., 2004), Folstein et al.
(1999) estimate the risk for having one or more of
the features of autism (i.e. the broader autism phe-
notype) in a subsequent child to be as high as 30%.
Syndromic causes of a Mendelian nature and/or the
birth of a second child would alter these risks. Fur-
thermore, in at least 10% of cases, specific etiologies
such as chromosomal abnormalities (dup15q11–13),
metabolic (PKU), syndromic (Fragile X syndrome),
genetic (tuberous sclerosis) or other non-genetic dis-
orders (valproate embryopathy) may be identified
(Muhle et al., 2004), and are critical to distinguish
from idiopathic autism through careful dysmorpho-
logic evaluation and investigation, as the recurrence
risks are quite different. It is thus surprising that
none of these families were referred to a medical ge-
neticist or genetic counselor to fully assess the fam-
ily, rule-out syndromic causes for ASDs, and discuss
recurrence risks that are specifically evaluated for
each family. While most respondents supported re-
search on the genetics of ASDs, the primary moti-
vating factors for the majority was improved diagno-
sis. It is possible that families may feel that medical
genetics services offer little advantage for them until
there are well-defined genetic markers and/or tools
that can be applied toward improved diagnosis and
management.
Some parents indicated feelings of guilt, a
finding also noted by both Gray (1995) and Elder
(1994). This was especially evident in mothers in
the latter two studies. Elder (1994) noted that there
was often an element of blame between sides of
the family, similar to what was expressed by one
parent in the present study. Blame and guilt among
family members are common findings in families
in which a genetic disorder is present (Weil, 2000)
and can negatively impact individuals and/or the
relationship among family members, including
that between parent and child. If such issues are
raised by a family, appropriate intervention and
education would assist in mitigating any negative
consequences.
Limitations due to ascertainment bias in the
current study should be considered, as the surveys
were primarily made available through support
and parent advisory groups. Parents who are
members of a support group often have access
to academic research and may have links to re-
searchers in the community and, therefore, are

Parental Perspectives on the Causes of Autism in their Children
more likely to have access to accurate and reliable
data.
In summary, this pilot study offers health-care
professionals and researchers further insight into
specific issues that parents believe contributed to
their child’s ASD. Parental perspectives are invalu-
able for informing and developing new research ini-
tiatives, and providing greater awareness of parent
sensitivities, perceptions and means for improving
practice essential for ongoing care and genetic coun-
seling. Studies such as the present one also provide
a critical perspective on the extensive breadth and
depth of factors that parents believe led to their
child’s ASD. A medical genetics assessment by a ge-
netic counselor and/or a clinical geneticist provides
an accurate means to help families understand genet-
ics, etiology, and inheritance patterns in a supportive
and informative environment. On the basis of the re-
sults of this study, the involvement of medical genet-
ics as a component in the assessment of an individ-
ual with an ASD is clearly needed to assist and guide
parents and family members toward resolving mis-
information and misunderstandings. However, the
sheer magnitude of individuals believed to be af-
fected with an ASD (at least 1/250 (Gillberg and
Wing, 1999) to 1/500 (Fombonne, 1999) individuals)
would make genetic assessment and counseling for
each and every family a daunting task. The means
to achieve this would be an important focus for fu-
ture research and development of medical genetics
services.
ACKNOWLEDGMENTS
The authors would like to thank all the par-
ticipants of the study. We wish to express special
thanks to Anita Acheson and other members of the
ASD-CARC Parent Advisory Group, and to par-
ticipating ASD-CARC regional teams who assisted
in the creation of the questionnaire and aided in its
distribution. This work was supported by funds from
the Canadian Institutes for Health Research (CIHR)
through an Interdisciplinary Health Research Team
grant (RT-43820) to the Autism Spectrum Disorders
Canadian-American Research Consortium (ASD-
CARC: www.autismresearch.ca) (JJAH, principal
investigator). MESL is supported by a CIHR Insti-
tute of Genetics Clinician Investigator Award (2003–
2005) and Michael Smith Foundation for Health
Research Career Investigator (Scholar) Award
(2005–2010).
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49
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