CASE REPORT Infantile Autism in Monozygotic Twins HAD! SALIMI-ESHKEVARI, M.D .(TEHRAN), D.P.M., M.R.C.PSYCH.(U.K.)
A pair of monozygotic twins concordant for early infantile autism is described. Both twins had low birth weight and postnatal cyanosis. They also suffered from epilepsy. The second twin had a lower birth weight and had to be kept in an incubator for 18 days. The twins' older brother had a history of speech delay. It seems that both genetic inheritance and brain damage were the main etiological factors for autism in both twins. J ournal of the American Academy of Child Psychiatry, 24, 5:643-646, 1985.
The syndrome of autism was first described by Kanner (1943), who believed that it was due to an inborn defect of presumably constitutional origin. Other investigators (e.g., Hanson and Gottesman (1976» have found that biological factors are more likely to cause this syndrome. Some researchers (Folstein and Rutter, 1977, 1978; Rimland, 1964; Rutter, 1967) stress the possible role of genetic factors. A study of a series of 21 same-sexed pairs, including an autistic child, showed 36% concordance in monozygotic pairs and 0% concordance in dizygotic pairs (Folstein and Rutter, 1977). Two further concordant monozygotic pairs have since been reported (Campbell et al., 1977; Salimi-Eshkevari, 1979). However, con cordance may indicate a common intrauterine and/or perinatal damage as well as genetic inheritance. On the other hand, a higher rate of autism in the siblings than in the general population has also been reported, which indicates the importance of genetic agents in the etiology of autism (August et al., 1981; Campbell, 1978; Campbell et al., 1977, 1981; Folstein and Rutter, 1978; Minton et al., 1982; Rimland, 1971; Ritvo et al., 1982). The author reports another pair of the samesexed monozygotic twins concordant for infantile autism.
of diagnosis and further management. Both twins met the DSM-III criteria of Infantile Autism on Axis 1. They were seen on two more occasions over a I-year period and on each occasion the original diagnosis was reaffirmed.
Parental and Family History The father is a bank clerk and a good father. The mother is a teacher and good to her children. Both parents were 30 years old at the time of the twin's birth. They had no history of serious marital discord. There is no history of mental retardation and/or mental illness in the fam ily. The twins have an older brother, 9 years old, who began talking at the age of 5 years. He was doing well at school at the time the twins were assessed. Pre- and Perinatal History In brief, there was a significant stress upon both twins during pregnancy and delivery, resulting in low birth weight and cyanosis (Table 1). The second twin had to be kept in an incubator for 18 days. Since the mother had to work, and perhaps due to other reasons, such as the very low birth weight of the second twin and separation from him while he was kept in an incubator, she felt that she could not cope with both twins. Consequently, the second twin was brought up by his grandmother, after being released from the incubator, in a different location. He continues to live with her and his parents have been seeing him once a month or so.
Case Report Both twins were seen at the age of 4 years. Psychiatric diagnosis was made by a pediatric neurologist. They were then referred to the author for confirmation Received June 19. 1984; accepted Jun e 13. 198.5. Dr. Salim i-Eshhe oari is Director. Research Department. Tehran S chool of Rehabilitation and So cial Welfare. corresponding mem ber of th e A merican Acad emy of Child Psychiatry, and respon sible for th e Int ernational Association for th e S cientific Study of M ental Deficien cy for th e Iran ian Organization. Requests for repr int s should be addressed to: Dr. H. Salim iEshh eoari, N o.4. 7th St . So lh A ve.• Kooyeh N asr, T ehran. Postal Code 14467. Iran. 000 2-7138/85/2405-0643 $02.00/0 1<:) 1985 hy the American Academy of Child Psychiatry.
Early Development and Medical History As shown in Table 2, gross motor development was nearly normal in both twins, although it developed later in the second twin . Both twins continue to be doubly incontinent, and were unable to feed or dress themselves. The beginning of vocalization could not be remembered by parents. They were very poor in 643
HADI SALIMI-ESHKEVARI TABLE 3 Medical History
TABLE 1 Pre- and Perinatal History History
Cyanosis Birth Weight Incubator
A few seconds
Full Normal (15 minutes after T I ) A few seconds 1250 g
18 days TABLE 2 Early and Present Development
Development Milestones Sitting Walking Running Sphincter control Language and Speech Vocalization
Using gestures Imitation Comprehension Talking Social Eye-to eye gaze Attachment to parents (grandmother in T 2 ) Responsiveness to people Responsiveness to criticism Play with peers, constructive and/ or imaginative Others Mouthing objects Casting objects Upset by being wet Head circumference at 4 years
TI 8" 12 24
From 12 to 36"
From 10 to 60
+ + Does not eat eggs
" Months. T2
Later than T, Later than T, Later than T,
Grand mal + petit mal epilepsy Taking anticonvulsant Drinking a large amount of water Eating oddities Idiosyncrasy to medicine
Abnormal, at the level of 10, whistling
Poor Poor Poor 2 words
(Table 3). The second twin still had epilepsy and was medicated with phenytoin. An idiosyncrasy to pericyazine was present in both twins. They slept for a short while after taking the medicine but then awoke with crying. This cycle was repeated several times after the medicine was administered and was therefore discontinued by the parents after a few times. However, thioridazine did not cause idiosyncratic reactions in the twins.
Skull x-rays and EEG were normal in both twins. Paper chromatography for amino acids in urine was negative. Zygosity was determined by testing of the children's blood. It indicated that the twins were identical for eight different blood group systems (Table 4). No abnormal antibodies were found in the serum of either twins. Identity to this extent is significant evidence of monozygosity.
Psychiatric Examination ?
+ + +
" Months. b Absent.
language and play. Only the first twin could speak two single words on various occasions. Both of them were showing stage six of Piaget's (1936/1977) sensory motor development. Socially, the first twin displayed poor attachment to his parents and the second twin to his grandmother. Neither exhibited any reactions to other people. They had no past history of serious physical or infectious diseases. Hearing was clinically assessed and was normal, although they were showing inconsistency in response to auditory stimulations. Both twins were suffering from grand mal and psychomotor epilepsy but the first twin had no epilepsy after the age of 3 years and his medication was discontinued
Both twins were seen at the age of 4 years (Table 5). In the first twin, autistic symptoms were noticed after the onset of epileptic fits at the age of 12 months. In the second twin, symptoms of autism began after the twin was afflicted with epilepsy at the age of 10 months. The first twin showed gaze avoidance, poor attachment to his parents, and ignored the examiner. He did not play with his parents. His play was repetitive and at the level of 15 months, and his language and speech were extremely poor. He showed a high level of repetitive behavior. The second twin had almost all of the symptoms of autism as the first twin except that he showed more severe gaze avoidance and hyperkinesis with ADD, but less severe head turning to the right and left. He also somersaulted repetitively. Their developmental functions were assessed by Gesell Developmental Schedules (Gesell and Amatruda, 1947) considering Iranian culture" (see Table 2). In • The author has been conducting research on the development of Tehranian children from birth to 6 years for the past 18 months.
INFANTILE AUTISM IN MONOZYGOTIC TWINS TABLE 4 Blood Group Analysis Rh System Twins TI To
ABO 0 0
+ + + +
TABLE 5 Symptomatology of the Twins Behavior
Gaze avoidance Lack of social interactions Inappropriate laughing Inappropriate screaming Language and cognitive disorders Somersaulting Head turning to the right and left Protrusion of the tongue Rocking Whirling and spinning objects Toe walking Stamping on the table Pulling up the shirt repetitively Hand mannerisms Irritability Destructiveness Hitting others Hyperkinesis and ADD Making a sound like hissing Smelling objects Interest in music and having a ride in the car
+ + + + +
+ + + + + + + + + + + +
To - (less than T I)
+ + + + + + (less than Ttl + + + + + + + + + + + (more than T I ) + + +
the second and third assessment during a I-year period, the symptoms remained as before, and no progress was noticed.
Conclusion Both twins showed symptoms of autism consisting of severe social withdrawal, cognitive, language and speech disorders, lack of symbolic play, and obsessivecompulsive behavior. The behavior of both twins was similar in most respects but there were some differences (see Table 5). The occurrence of epileptic fits and severe mental retardation both indicated the presence of organic brain damage. Although there may have been a genetic influence, it seems that gestational and perinatal as well as genetic vulnerability contributed to the development of mental retardation and autism. Gestational damage was evident by the low birth weight of both twins, particularly in the second twin, who had to be kept in an incubator for 18 days . On the other hand, speech delay in the older brother favors genetic transmission in autism, since autism is basically a deficit in language and/or cognition.
Speech delay has been reported in 25% (Bartak et al., 1975; Rutter et aI., 1971) and cognitive disability in 19.5% of the relatives of autistic children (August et aI., 1981). Psychological identification is ruled out in the present case, since the second twin was separated at an early age and was brought up by his grandmother in a different location. Overall it appears that, within this family, there existed a genetic vulnerability to develop language and cognitive disorders, which was associated in the twins with pre- and perinatal insult to the central nervous system resulting in infantile autism, a hypothesis forwarded by Folstein and Rutter (1977, 1978) and supported by many investigators (August et al., 1981; Campbell et al., 1981; Minton et al., 1982; Ritvo et aI., 1982).
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