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. 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