Summary
A systematic study was made of a representative group of 21 same-sexed twin pairs (11 MZ and 10 DZ) in which at least one twin showed the syndrome of infantile autism. There was a 36 per cent pair-wise concordance rate for autism in MZ pairs compared with o per cent concordance in DZ pairs. The concordance for cognitive abnormalities was 82 per cent in MZ pairs and 10 per cent in DZ pairs. It was concluded that there were important hereditary influences concerning a cognitive deficit which included but was not restricted to autism. In 12 out of 17 pairs discordant for autism, the presence of autism was associated with a biological hazard liable to cause brain damage. It was concluded that brain injury in the infancy period may lead to autism on its own or in combination with a genetic predisposition. Uncertainty remains on both the mode of inheritance and exactly what is inherited.

Infantile autism: a genetic study of 21 twin pairs

ion, 88,90 Addison's disease, 243 Adenosine triphosphate (ATP), 170

Autism: A Reappraisal of Concepts and Treatment

In his original description of the syndrome of infantile autism, Kanner (1943) noted that the condition was distinctive in that in most cases the children’s behavior had appeared abnormal right from early infancy. He suggested the presence of an inborn defect of presumably constitutional origin. Since then there have been numerous hypotheses concerning the possible nature and origins of this defect (see Ornitz, 1973; Rutter, 1974). However, in spite of the supposition that the disorder is inborn there have been surprisingly few attempts to investigate possible genetic influences (see Rutter, 1967; Hanson & Gottesman, 1976).

A Twin Study of Individuals with Infantile Autism

Study of at-risk children who are siblings of children with autism has not discovered a standard pattern of the onset of autism symptoms. When two or more children are diagnosed with autism in one family, diagnosed siblings and fraternal twins show variation in autism symptoms. The estimated 20% risk for a second child in a family being diagnosed with autism symptoms is a composite of many separate risk rates for the many different genetic and environment risk factors for autism that vary from family to family. The broader autism phenotype theory claimed that milder forms of atypical social skills, rigid and repetitive interests, and other autism-related traits together comprised an autism-like family symptoms pattern. Although nearly 60 different autism-like symptoms were studied or proposed, researchers have not uncovered any consistent pattern of traits that would identify a standard familial broader autism phenotype.

Autism Symptom Heterogeneity Exists in Family Members

An unusual family is described which has been studied for several years. Accounts are given of the later development of two sisters who had suffered severe social and emotional deprivation in infancy. One girl appears to have completely recovered. The other remains handicapped, mainly in language skills, and shows a variety of autistic features. She is also microcephalic as is their mother. The development of a half brother who was raised elsewhere is recounted. He is an albino, severely mentally retarded and autistic. The later discrepancies in development of these children are discussed, with reference to former case studies of extreme deprivation in early childhood.

Extreme Deprivation in Early Childhood--I: Diverse Outcomes for Three Siblings from an Extraordinary Family.

This case study describes in detail two autistic siblings who were mentioned in Rimland's analysis of checklists for psychotic children, as the only pair of classically early infantile autistic siblings (Rimland, 1971). One of the children, a nonverbal girl, now 13 years old, who developed epileptic seizures at age 41/2, shows all symptoms of early infantile autism even today. Her brother, now 24 years old, however, does not fit any of the known psychopathological patterns of childhood. The boy showed all symptoms of early infantile autism, but also some of the main characteristics of childhood schizophrenia and austic psychopathy. It is suggested that we are dealing perhaps with an unusual mixed type falling within a broad category of genetically determined types of autistic disorders.

A Pair of Classically Early Infantile Autistic Siblings.

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A Pair of Classically Early Infantile Autistic Siblings.