Neurocase (2005) 11, 129137

Copyright Taylor & Francis Inc.

ISSN: 1355-4794 print
DOI: 10.1080/13554790590925529
Neurocase
A retrospective journal-based case study of an infant
with autism and his twin
M.D. RUTHERFORD
Department of Psychology, McMaster University, Hamilton, ON
This report describes the development of an infant who was later diagnosed with autism, and a direct comparison of his development to that
of his twin, from a prenatal period through the age of 4 years, through the examination of personal journals and medical records kept by the
mother of the twins. Examination of these journals revealed several differences in development between the twins, some as early as 6
months of age. In the first year of life, the infants already differed in language development, social development, sleep patterns, and
sensitivity to pain. This rare opportunity to view early autistic development gives direction to developmental theories of autism and
clinically useful cues to early signs of autism.
Introduction
Clinical importance of finding early signs and markers
of autism
This study reports the examination of comprehensive journals
kept by the mother of twins, one who has autism, and the
other who has developed typically. The discovery of these
journals presented the opportunity to examine the very early
development of a child with autism. One goal of this research
is to gain new insight into the early developmental trajectory
of a child who was later diagnosed with autism. Broadly, this
project is part of a program of research that is intended to
identify early signs that may be diagnostic of autism.
Early diagnosis and early treatment consistently lead to
improved prognosis in autism (Rogers, 1998; Robins et al.,
2001; Bryson et al., 2003), but currently diagnostic tests are
not considered reliable until the age of 2 years, and reliability
increases until 3 or 4 years of age, the age at which most chil-
dren are diagnosed. Some symptoms may not be present at an
early age. For example restricted interests and repetitive
behaviors do not reliably distinguish autistic development
from normal development until the child reaches the age of 3
years (Baron-Cohen et al., 1992; Robins et al., 2001). Early
identification and treatment are particularly important in
autism since it is thought that development drifts farther and
farther from typical as a child ages and interacts abnormally
with both his social and non-social environments. Identifying
and observing very young infants who later develop autism
has the potential for both theoretical and clinical advances.
Theoretical significance of very early autism research
Various developmental theories of autism posit very early
precursors as early predictors of the later development of
autism. For example, the theory of mind theory (Baron-
Cohen et al., 1985; Baron-Cohen, 1995), the executive func-
tion theory (Pennington et al., 1997), and the social orienting
theory (Dawson, et al., 1998; Mundy & Neal, 2001) propose
early disturbances in development that lead to abnormal
interactions with the environment and therefore delayed or
deviant later development. However, one would need very
early observations in order to test these theories, earlier than
most children with autism are diagnosed.
Challenges of studying early autism
Empirical work on the very early development of autism has
been difficult and therefore infrequent. Typically, individual
children who develop autism are not identified until they are
at least 2 years old, and sometimes much later, so identifying
groups of 2-year-olds with autism is difficult work, and no
groups of children 1 year old (or younger) diagnosed with
autism have been identified. The strategy of recruiting large
numbers of infants and testing them with the hope of the
opportunity for close and careful observation of the target
children is impractical and prohibitively expensive. Because
autism is a relatively rare disorder, even large-scale recruiting
of very young infants would yield few cases of autism. Since
such research has been rare, one of the most urgent clinical
needs for individuals and families dealing with autism is the
Received on 17 August 2004; accepted on 29 November 2004.
The author is deeply grateful to the mother of the twins for keeping
such clear and complete records and for allowing me to examine
them. I would also like to thank both of the twins parents and T.F.
for previewing the manuscript.
Correspondence to Department of Psychology, McMaster
University, 1280 Main Street West, Hamilton, ON L8S 4K1. Voice:
905-525-9140 Fax: 905-529-6225. E-mail: rutherm@mcmaster.ca
130 Rutherford
development of a diagnostic instrument to detect autism early
in life (Filipek et al., 1999).
That said, there have been several attempts to study and
document early development in autism. For example, in one
study, researchers retrospectively examined videotapes of
childrens first birthday parties, after the children were older
and had been diagnosed with autism (Osterling & Dawson,
1994). These children were found to have exhibited fewer
social and joint attention behaviors even at the age of 1 year. In
addition, research is currently being conducted in several loca-
tions looking at the early development of children who are at
risk for autism by virtue of being a full sibling of a child with
autism. Results from these studies are promising, but still
preliminary, and it will take time to learn what the develop-
mental outcomes will be for these children (Zwaigenbaum,
2003).
Currently, there are several screening instruments that are
meant to detect signs of autism in children as early as 18 or
24 months or to identify those who should be referred for fur-
ther evaluation. These instruments include the Checklist for
Autism in Toddlers (the CHAT) (Baron-Cohen et al., 1992;
Baird et al., 2000) which is designed to screen children for
autism at 18 months, and the Modified CHAT (the M-CHAT)
(Robins et al., 2001), which has been used to screen children
for autism at 24 months. However, the sensitivity and speci-
ficity of these screening tools remain controversial. Some
authors (Blte & Poustka, 2004) suggest that it is not even
possible to detect autism at this early age because symptoms
at this age are not distinguishable from symptoms of other
developmental delays and mental retardation. Other groups
have recently argued that early detection is, in principle,
possible, at least for severe cases of autism (Filipek et al.,
1999).
A journal-based case study of early autism
This research project was the result of an unexpected oppor-
tunity to examine the journals of a mother of twins, one who
has been diagnosed with autism, and the other who has devel-
oped typically. The journals cover the period from neonatal
development through the age of 4. The childrens mother
kept meticulous records that include mothers reports, medi-
cal records and school and special education records. The
mother, clearly, could not foresee the autism diagnosis so
approached the record-keeping with no preconceptions about
outcome. This thorough record-keeping provides an unprece-
dented opportunity to not only report on a young child devel-
oping autism, but also to directly compare developmental
milestones to that of the childs twin.
The significance of a twin comparison
The twins are a boy who was diagnosed with autism at the age
of 3 years and 1 month, and a girl who has developed typi-
cally. The opportunity to observe twins develop is fortuitous.
Case studies of individuals are interesting but often hard to
interpret, since even in typical development, the age of various
milestones can vary, and comparisons are difficult. The exist-
ence of a twin provides a comparison that naturally controls
for race, socio-economic level including family income and
parent education level, exposure to diet, exposure to any
chemicals that might be present in the house or in the neigh-
borhood, presence or absence of both parents, number of hours
each parent works outside the home, exposure to television,
and myriad other factors that could potentially be important.
These journals provide a rare opportunity to observe the
early development of a child with autism. There have been
some studies in the past that retrospectively describe the early
development of children with autism, for example, by analyzing
video tapes that were recorded prior to diagnosis (Adrien
et al., 1991a; Adrien et al., 1991b; Osterling et al., 1994;
Baranek, 1999). However, the richness of these journals pro-
vides an unprecedented opportunity and offers a natural
control for some factors. Although one previous case study
describes the development of twins, each of those twins had
autism, and the children came to the attention of the
researcher only later in development (Sloan, 1978).
Methods
Participants
The twins are fraternal twins. N.F. is the male twin who was
diagnosed with autism at the age of 3 years and 1 month. At
the age of 3 years N.F. was referred by his pediatrician to a
child psychiatrist who specialized in autism. It was during the
ensuing consultation, which included evaluations by using
the ADOS (Lord et al., 2000) and ADI-R (Lord et al., 1994),
that N.F. received his diagnosis. He was also found to need
tubes in his ear canals, which were implanted at the age of
2 years and 6 months.
T.F. is the female twin with no neurological diagnosis. The
mother was 29 years of age at the time of the twins birth, and
is now a full-time homemaker, although she worked outside
the home when the twins were young. The father works full
time outside of the home.
The Journals
The journals include hundreds of pages of hand-written notes
chronicling the development of the children. The mother
recorded her notes on a nearly daily basis for almost five
years. These notes include observations about the twins
speech, social interactions, medical concerns, growth, interac-
tions and visits with family, holidays, and many other topics.
The journals also include medical records, including the
mothers medical records from the time around the birth, the
twins medical records, and records from child psychiatrists.
Also included are records from N.F.s work with speech
training and an autism drop-off clinic.
Journal-based Study of Twin with Autism 131
Areas of inquiry
The journals that were examined for this study were remarkably
comprehensive and detailed. I examined these journals for
areas and topics that were particularly interesting for theoret-
ical reasons. The topic areas that were chosen for in-depth
exploration and report were prenatal development, language
development, social interactions, and several minor topics
such as sleep patterns, self-stimulation, repetitive behaviors,
and sensitivity to pain. These particular areas were chosen
both because of theoretical expectations based on the known
literature and because of marked differences between the
twins (see especially sleeping patterns). Differences during
the first year of life are highlighted.
Prenatal development and birth
The prenatal period in autistic development is a period that
has been particularly opaque to research, but nonetheless has
attracted some attention. One large study which set out to ret-
rospectively examine the prenatal factors associated with
autism in a group of 23 children with autism found that com-
pared to expected rates, these children showed more anoma-
lies during birth, including breech delivery, low birth weight,
and respiratory distress syndrome (Finegan & Quarrington,
1979). Another factor that has been associated with autism is
induced labour (Mason-Brothers et al., 1987). One study
examining the link between prenatal trauma and autism sug-
gests that there are causal links between negative prenatal
experiences (such as threats of miscarriage, and the pregnant
mothers mental pathology) and a later diagnosis of autism.
According to this study the mentally unhealthy mothers
voice contributes to the childs later development of social
isolation and attraction to tactile stimulation (Maiello, 2001).
In contrast, one wide scale study rejected the idea of prenatal
trauma causing autism after finding no evidence of a connec-
tion between prenatal exposure to influenza and autism
(Dassa et al., 1995).
Given this past theoretical and empirical work, one might
expect to see atypical prenatal development and birth in the
twin who later developed autism, compared to his twin.
Results
The twins prenatal development seemed normal and healthy
and did not differentiate the two twins. Measures of heart
rate, size (weight estimated from ultrasound images) and
head circumference were normal and similar in the two. At
25 weeks gestation, the doctor said that the babies are very
healthy, and she is pleased with progress, according to the
mothers notes.
There was some stress associated with the birth itself. On
the advice of her physician, the mother started complete bed
rest at 28 weeks gestation. At 32 weeks gestation, she
recorded having very active contractions. She was also
hospitalized twice prior to delivery: the first time was at 31
weeks gestation, or 30 days prior to birth, and the second
time was nearly a week later, 25 days before birth, at which
point she remained in the hospital until 10 days after the
birth. At 33 weeks gestation, or 15 days prior to birth the
mother recorded having a dilated cervix and contractions 4
minutes apart lasting approximately 45 seconds each.
N.F. was delivered vaginally, though 5 weeks prematurely,
after induced labor. His twin, T.F., in contrast, was delivered
via emergency Caesarean section 35 minutes after N.F. Dur-
ing the 19 hours of labor, the mother lost a great deal of
blood, described by the physician as extra bleeding which
was not coming from the episiotomy and both twins showed
signs of distress immediately postpartum. However, N.F. was
described as quite vigorous by the physician immediately
after birth. In contrast, T.F. was described by the physician as
limp and unresponsive immediately after birth, and the
physician reported that her cord was wrapped around her
neck, but the physician did not know whether this caused any
trauma. N.F. was jaundiced immediately after birth and
weighed 4 pounds 14 ounces. T.F. weighed 4 pounds 12
ounces at birth. According to medical reports included in the
journals, N.F.s APGAR scores were 8 at one minute and 10
at five minutes. T.F.s APGAR scores were 4 at one minute
and 7 at five minutes.
Interim discussion
The current case study does not support the idea that prenatal
or parturient trauma is a cause of autism, because although
N.F. did apparently suffer some distress during birth, his
twin, T.F., who did not develop autism, seems to have had an
even more traumatic birth. She also experienced the pro-
tracted labor which involved blood loss on the part of the
mother, and she alone was delivered by Caesarean section
and was described as limp and unresponsive at birth. If
traumatic delivery were a sufficient explanation for autism,
this would predict that T.F., not N.F., was more likely to
develop autism in this situation.
Language acquisition and communication
Children with autism often have a delay in language develop-
ment. Indeed, language delay is one of the diagnostic criteria
(American Psychiatric Association, 1994). Since language
development is a focal concern in autism, much solid research
has been done in the area (Ricks & Wing, 1975; Sigman &
Ungerer, 1984; Mundy et al., Kasari 1990; Harris et al., 1991).
Still, little is known about language development in the first
year of life in children with autism since little autism research
precedes diagnosis.
In typically developing children, one expects to see partic-
ular milestones of early language development. Before the
132 Rutherford
age of 6 months, a typical child will make pre-linguistic
vocalizations when spoken to or when excited (Hsu et al.,
2000), and will watch the face of a person who is speaking
(Silven, 2001). In the second half of the first year, a child will
babble (Oller et al., 1998), repeat sounds (Charman et al.,
2003) and can understand simple utterances like no. In the
first half of the second year, a typical child can respond non-
verbally to simple questions (Fenson, et al., 1994), has a
small vocabulary of object or person labels (Vihman, et al.,
1986) and tries to imitate simple words (Hsu & Fogel, 2001).
Before the production of two-word combinations some
researchers believe that a child experiences the so-called
word spurt (Goldfield & Reznick, 1990; Ganger & Brent,
2004). In the second half of the second year, a typical child
will start producing two-word combinations (Werker et al.,
2002) and start using pronouns and verbs. One study found
that 16-month-olds had a mean productive vocabulary of 28
words and that 20-month-olds had a mean productive vocab-
ulary of 141 words (Nazzi & Gopnik, 2001).
Children with autism show varied language acquisition tra-
jectories, but as a group show some characteristics that distin-
guish them from typical children. Some people with autism
exhibit echolalia, or the immediate repetition of both words
and intonation in lieu of communicative speech (McEvoy,
et al., 1988). Language acquisition in autism is delayed com-
pared to typical development (Charman et al., 2003). Compre-
hension of words is delayed relative to production of words
(compared to typical development) (Charman et al., 2003). In
contrast, articulation skills seem to be spared (Kjelgaard &
Tager-Flusberg, 2001).
Results
In this pair of twins, there were differences in early language
development. Remarkably, development was not distin-
guishable before the age of 6 months when both infants were
making pre-linguistic vocalizations in social contexts. At
just under 3 months, the mother reported that N.F. found his
voice and at just under 4 months she said he jabbered up a
storm. Similarly, T.F. chatters like a chatterbox at 3
1
/
2
months and was talking up a storm at 4 months. At 4
months and 23 days, the mother wrote, The kids are starting
to really change the tone of their voices when they are talk-
ing. [N.F.] and [T.F.] have a great time talking to each
other. At 6 months and 8 days the mother wrote, Kids
started saying DaDa. Sort of said it before but now its clear
and frequent.
Differences started to emerge between 6 and 12 months of
age at which time T.F. began using labels for objects and
people, whereas N.F. did not. During this entire 6 to 12
month time period, the journals report N.F. only attempting
to say two words (ta ta, which the mother didnt have a
meaning for, and dare which the mother interpreted as
there.) In contrast, T.F. spoke several words a week, more
words than we have space for here, but examples include
hat, duck and toe, which, according to the mother, were
spoken clearly and used meaningfully. N.F.s vocabulary was
considerably smaller than that of his twin during this time
period.
From the age of one year, N.F.s vocabulary included
many double-word phrases (e.g., tee tee and po-po), a
production characteristic not seen in his twin. Between the
ages of 12 and 23 months, T.F. began correctly using two-
word labels and phrases (e.g., clean up) while N.F. used
only single words during this period. N.F. began using two-
word phrases and labels only by 24 months. The mother
reports that N.F.s speech was noticeably less meaningful
than his twins, even when it sounded language-like. N.F.
was more likely to repeat or echo words that were spoken to
him during the second year, while his twin was more likely to
speak words other than those she had recently heard.
Around the age of 24 to 32 months, T.F. began to generate
short phrases and could count to 10. At this time, N.F. still
did not usually use more than one word at a time, with the
exception of his double-word production. By the age of
around 32 to 38 months, N.F.s language had not developed
further, with the exception of an expansion in vocabulary. As
mentioned earlier, the mother consulted her pediatrician
about this when N.F. was about 36 months old. This referral
led to his diagnosis.
At 32 months the mother recorded I said [N.F.] want a
book? He looked at me and really paid attention. I then told
him to go get a book and bring it to me. Well he got the book
but he didnt bring it to me. Its a start. I really think hes
starting to understand some. In comparison, T.F. was using
complete sentences and could communicate efficiently with
others by the age of 38 months. At three years his mother
wrote [N.F.] is really starting to mimic songs with actions
from Barney (a childrens television show). In the first half
of his fourth year, N.F. finally was able to generate two-word
phrases, usually as requests, such as more juice. He never
generated utterances of more than two words, and attempts to
teach him sign language were unsuccessful.
It may be important to the study of his language develop-
ment that N.F. had some early hearing loss. The mother
reports that ear infections started for N.F. at the age of 1 year,
and until that point hearing was normal. After that point, the
mother had the impression that hearing was muted, like
when your ears get plugged up on a plane ride. At the age of
1 year and 11 months, a physician found some evidence of
hearing loss and of fluid in his ears. At 2 years and 5 months,
he started speech class, because his mother suspected hearing
problems. At this point he was diagnosed with serious otitis
media, and presumably suffered some hearing loss, although
quantitative measures of this loss are not available. At 2 years
and 6 months N.F. had surgery to relieve pressure on his ears
and to insert drainage tubes. At that point, much fluid was
released and hearing was recovered. At 2 years 9 months, his
hearing was tested and was entirely normal.
Journal-based Study of Twin with Autism 133
Interim Discussion
N.F. showed some characteristics of autism in his very early
development, including language delay, repetition, and some
echolalia. The significance of N.F.s double-word phrasing is
not immediately obvious. It is consistent with the finding that
children with autism exhibit language anomalies, and that
children with autism engage in repetitive behavior. However,
this double-word phrasing may be idiosyncratic, as it is not
commonly reported in autism. It is theoretically interesting to
note that there was seemingly typical language development
before the age of 6 months. This finding suggests two post-
hoc explanations. It is consistent with the ideas either 1) that
development is, in fact, typical before the age of 6 months, or
2) that language development before the age of 6 months does
not rely on cognitive processes that are affected by autism.
For both clinical and theoretical reasons, the changes that hap-
pen after the age of 6 months are interesting. In the second half
of the first year, N.F. already showed language delay, showed
repetition, and showed a diminished vocabulary. These develop-
mental markers occurred more than a full year before autism is
typically diagnosed, so may have some important theoretical
and clinical significance. During the next year, N.F. exhibited
repetition and echolalia. Although early hearing loss may have
affected both social and language development in the second
year, this hearing loss is not likely to have been a factor during
the second half of the first year, since N.F.s ear infections did
not start until he was 1 year old. Some researchers believe that
recurrent otitis media can affect language development when
present between birth and two years of age (Campbell et al.,
2003; Feldman et al., 2003), but this claim is not uncontrover-
sial, as one meta-analysis found only a negligible relationship
between otitis media and language delay (Casby, 2001).
Social interaction
The social deficits in autism are central to the diagnosis, and per-
haps the most debilitating deficits in this disorder. The most reli-
ably measured deficits in early autism are those in social areas
such as joint attention, communication, and imitation. In fact, the
single most reliably measurable deficit in autism is a deficit in
joint attention (Mundy et al., 1986; Baron-Cohen, 1989; 1986;
Mundy & Sigman, 1989; Buitelaar, et al., 1991; Baron-Cohen,
1995), and this deficit is known to appear by 18 months
(Baron-Cohen et al., 1992) and possibly as early as 12 months
(Osterling et al., 1994). Interestingly, social cognitive deficits in
autism are not seen in certain domains of social development such
as understanding reciprocity and attachment when compared to
typical development in mid-childhood (Baron-Cohen, 1991).
Results
As in other domains, the twins studied in this project exhib-
ited noticeable differences in early development in the social
domain. As in other domains, the differences were not appar-
ent during the first 6 months. During the first 6 months, both
twins smiled, both engaged in socially responsive vocaliza-
tions, and both showed a preference for family members over
other people. At 1 month 22 days mother recorded kids
started smiling. At 4 months 3 days mother wrote, This is
the first time the kids were on their backs on the floor and
they were talking to each other, and at 4 months 8 days
mother wrote [N.F.] and [T.F.] love talking to each other.
By the age of 11 months, T.F. clearly recognized particular
individuals and was able to communicate with others both
verbally and non-verbally. In contrast, N.F. showed less eye
contact, less verbal communication, and less other-directed
affection than his twin. He did not point to share attention,
and did not respond reliably to his name. As an example, just
days short of their first birthday, their mother recorded that
[N.F.] says Dad not Dada and tries to talk, whereas
[T.F.] started waving all of a sudden she also started
pointing at pictures saying mamma and Dada.
At and around the age of 1 year (including the first birthday
party) the mother reports that N.F. did play with others outside
of the family, but only if those people were able to engage him
by talking directly to him, and by talking in an exaggerated
way. People outside of the family, and new visitors to the
house would be ignored if they did not engage him. Similarly,
he would interact with new children, if the children approached
and engaged him; otherwise he was likely to ignore them. In
this regard, the mother reported, he was not unlike his twin.
Between the ages of 18 months and 24 months, T.F. played
interactive games and performed interactive tasks with her
mother, whereas N.F. did not. N.F. did show an attachment to
his parents starting between the ages of 24 to 32 months. He
also interacted with others by offering high-fives and hugs
and kisses but preferred to remain alone and engage in soli-
tary play. N.F. was not interested in generative or imaginative
play until the age of 3 or 3
1
/
2
at which age he began to play
games with his twin.
At 3 years, 3 months a child psychiatrist reported that N.F.
does not offer comfort if others are in distress and will not
come for comfort if he himself is hurt, and that N.F. will not
show or direct his parents attention to objects of interest and
will not engage in social play. He is also reported by this same
source to have limited facial expressions, has inappropriate
facial expressions he will squint and peek through his eyes.
His response to his name did improve by the age of 4 years.
By the age of 4 years N.F. was said (by a care provider) to
have a special bond with his father, sharing in hide and go
seek and rough jumping games. At the same age, the same
care provider recorded it is clearly evident that [N.F.] dem-
onstrates some interest to engage interactively with others.
Interim discussion
Some of the social developmental milestones showed by N.F.
were concordant with the autism literature. In particular, his
134 Rutherford
reduced eye contact and vocalization, as well as preserved
attachment are consistent with what we know of the social
behavior of children with autism. What is remarkable is how
early this behavior was noticed. The mother recorded the dif-
ferences in development as early as 11 months. N.F.s play
behavior was also different from his twin prior to the age at
which autism is usually diagnosed.
Other observations
Sleeping patterns
In older children and adults, autism is associated with sleep
disturbances, in particular with problems with the onset and
maintenance of sleep. More intense sleep disturbance pre-
dicts more severe autism (Shrek et al., 2004). Some authors
believe that sleeping problems in autism are associated with
anxiety and depression which is known to be relatively com-
mon in autism (Richdale, 2001).
Sleep disturbance was present in this young child with
autism. The twins already exhibited minor differences in
sleeping patterns by the age of 1 month, at which point the
mother wrote that [N.F.] is still waking up every 1
1
/
2
to 2
hours for his feeding. [T.F.] is waking up every 23 hours,
sometimes longer. At 2 months, 24 days the mother wrote,
[T.F.] started sleeping longer at night, 8 hours. [N.F.] is still
45 hours of sleep. At three months she wrote, [N.F.] is
still not sleeping good at night. [T.F.] is sleeping very good at
night, and [T.F.] slept right through the night. This pattern
continued until the twins were about 4 months of age, and
this dissimilarity in sleeping patterns was no longer evident
by the age of 5 months at which point both twins had a regu-
lar sleep routine.
Differences re-emerged by the age of 4 years, at which
point N.F. would wake up frequently during the night, some
nights as often as nine times. When he awoke, he would cry
and yell; his mother thought that he appeared to be in extreme
pain. The mother guessed that N.F. was either experiencing
nightmares or cramps. Such episodes occurred approximately
once every three months. T.F., in contrast, had nightmares
much more rarely and did not appear to experience pain as a
result of any nightmares. T.F. would allow her mother to
comfort her after nightmares, but N.F. could not be com-
forted, and would not allow his mother to touch or try to com-
fort him after nightmares. The mother reports that this pattern
of irregular sleep may simply have been due to the infants
hunger or to colic, which N.F. experienced until about 15
months of age. However, what was remarkable to the mother
was that she was unable to comfort N.F. no matter what
when he awoke during the night.
In this case, the sleep disturbance may be consistent with
past research on autism, but it appears much earlier than
might be expected. Past research has reported sleep distur-
bances emerging between 6 and 12 months of age in autism
(Dawson et al., 2000).
Self stimulation and repetitive behaviours
Repetitive behavior is one of the diagnostic criteria of autism
(American Psychiatric Association, 1994) and self stimula-
tion is widely recognized as characteristic of autism. These
behaviors were observed in this case. N.T. developed an
intense interest in particular patterns and in puzzles around
the age of 2 years. He also started banging his head against
the wall and spinning in circles around the age of 3 years. At
around 41 months of age he was very interested in lining
things up, especially his stuffed animals on the couch. He
appeared to be attached to a particular arrangement of the
stuffed animals. Around this time, for example, the mother
wrote [N.F.] set up all his stuffed animals on the couch by
himself. If I interfere and put one on the couch he gets mad
because he feels I put it in the wrong spot If I do it again he
gets mad and screams and throws them on the floor.
Insensitivity to pain
Various sensory anomalies are known to be characteristics of
childhood autism (Watling, et al., 2001; Rogers, et al., 2003).
These journals record that N.F. frequently showed insensitivity
to pain, and this anomaly was manifest as early as 6 to 12
months of age.
Unusual expressions of humour
There is some evidence that children with autism show
anomalous expressions of affect or emotion (Capps et al.,
1992). Although this study did not specifically address the
expression of humor, it reveals that N.F. occasionally showed
emotions that were inappropriate for their context. On one
occasion, he laughed for about 20 minutes while alone in the
dark in his bedroom although his mother could detect no reason
for an expression of humour.
Possible seizure
Seizure disorders are commonly known to be comorbid with
autism. N.F. was described by his mother to have spaced-
out on a few occasions around the age of 2. These episodes
lasted about 20 to 30 seconds. His mother had interpreted
these episodes as possible seizures and, at 3 years 2 months,
she consulted a physician. However, the physician found no
evidence that N.F. actually had seizures. An EEG performed
when N.F. was 4 years old was normal, and another repeated
at 10
1
/
2
years was again normal. The physician concluded
that N.F. had never had seizures.
Discussion and conclusions
There are a couple of interesting observations in this study:
first, that there is little difference from typical development in
Journal-based Study of Twin with Autism 135
the first six months of life; and second, that there are early
markers of autism that predate the time of possible autism
diagnosis.
In many respects, N.F. appears to have developed typically
during the first half year of his life. He was making typical
progress in language development, making socially provoked
prelinguistic vocalizations, and speaking his first word at 5
months, exactly in accordance with his twins development.
Also in the first half of his first year, N.F. smiled, was
socially responsive, and preferred family members to strang-
ers, as did his twin. These findings of typical development in
the first six months are similar to the findings of an earlier
case study of a child with autism (Dawson et al., 2000).
Oddly, his sleep patterns were different from his twins,
noticeable as early as 1 month of age. It is hard to know
whether this difference is theoretically meaningful.
The fact that, in this case study, there were few noticeable
developmental differences in the first 6 months is tremendously
important. In the domains most associated with developmental
deficits in autism, specifically language and social develop-
ment, N.F. appears typical. This suggests that it may be hard to
find early clues of autism in these domains. If there are cues of
autism before the age of 6 months, it may be necessary to look
in different domains (e.g., brain development itself) or to mea-
sure development in these domains with a more sensitive mea-
sure (perhaps by measuring eye movements in response to
social stimuli like eye gaze, faces, or animate motion).
This lack of early divergence is interesting theoretically.
There has been a great deal of debate about what the earliest,
and therefore causal, deficit in autism is. Some authors pro-
pose that the core and causal deficit is social in nature
(Baron-Cohen et al., 1985; Baron-Cohen, 1991; Leslie, 1991;
Baron-Cohen, 1995), and others have proposed that language
development may have a causal role in autism development
(Ricks et al., 1975; Sigman et al., 1984; Charman et al.,
2003). The current results are problematic for these propos-
als. If normal social and language development are taking
place early in the first year, it must be the case that these early
cognitive processes begin to develop normally. The delay or
deviance in development must originate with other cognitive
or brain processes.
A second finding that this study offers is the early clues to
autism that appear after about 6 months but before a reliable
diagnosis of autism is possible. After 6 months but before 2
years, N.F. showed a decrease in vocabulary, a decrease in
vocalization, and a preponderance of double-word phrasing.
He was more likely to repeat others than to speak his own
words. By 1 year of age, N.F. showed less eye contact, and
less affection, and less interactive play than his twin. These
findings offer cues to autism that may make it possible to
diagnose it, or at least identify children at risk for the disor-
der, earlier than is currently possible. Further research is
needed to see if these differences are sufficiently reliable and
autism-specific to be diagnostic at this age.
Although developmental differences were clear in this case
after 6 months of age, there were no noticeable differences
before this age. This could be for one of two reasons. It could
be that children with autism develop normally for 6 months
and then begin developing atypically at around 6 months. In
other words, it is possible that there are no differences until
typical children begin to accelerate in social development,
and the child with autism makes only relatively slower gains.
In contrast, it could also be that there is atypical development
but that it is subtle enough that even the parent of twins
would fail to notice. Indeed, many theories of autism predict
that there would be an increase in abnormality if the infant is
interacting atypically with the environment and thus develop-
ing further and further from normal. Disambiguating these
two possibilities would require a close study of children in
the first 6 months of life, using measurement that would find
difference that daily observation would not.
One caveat is worth remembering: this is a parents report
and could include subjective impressions of the development
of her children. Naturally this limitation is important to keep
in mind when evaluating this type of study. However, in this
case the mother was, at first, reporting on two children that
she did not suspect of having autism or any unusual develop-
ment. Around the age of 2 and
1
/
2
years, the mother began to
suspect that one of her children (N.F.) was developing differ-
ently and the journals, after that point, have more detailed
records of his development than of his twins. However, the
mother did not go back and retroactively add or change any
of the earlier records when she began to suspect that N.F. was
different, or when N.F. was diagnosed with autism at age 3
years and one month.
Another caveat that may be important to keep in mind is
that N.F. did suffer some early hearing loss. This hearing loss
did not occur until N.F. was a year old, so is not a likely expla-
nation for delayed social and communication development in
the second half of the first year. However, between one year
of age and about two and a half years, N.F. suffered partial,
though not complete hearing loss. Hearing was fully recov-
ered after the fluid in his ear was released, but it is difficult to
know what impact this hearing loss had on his development.
Theoretically, it is possible that this hearing loss had a pro-
found impact on both social and communication development.
A final caveat is that this case study relied heavily on a
comparison of this young boy with autism to his sister, a fra-
ternal twin. His twin is a good comparison for many reasons,
but since the two are fraternal twins, they do not have an
identical genome. Furthermore, there is evidence that girls
may have precocious development specifically in areas such
as social cognition and language, relative to boys (Brown &
Dunn, 1996). For these reasons, this comparison is imperfect.
Conclusion
This retrospective study revealed several differences between
a developing child with autism and his twin. Importantly,
many of these differences were noticeable before the age of 3
years, a time period before the child was diagnosed, or before
136 Rutherford
the mother suspected that there was a developmental delay.
Although we cannot rule out factors due to their idiosyncratic
genome or to their sex, many of the factors that we typically
think of as influencing development are controlled for
because the development of twins is directly compared.
Epilogue
As of this writing, the twins are 12 years old. Their mother
went on to start a nation-wide organization that funds autism
research and distributes information about autism. T.F. is
doing well, and was able to read an earlier draft of this manu-
script. N.F. continues to struggle with language development,
but is usually a happy child.
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