Abstract

The purpose of this proposal is to further elaborate on the nature of the association between Infantile Autism and the Fragile(X) (fra(X)) Syndrome. In a sample of 124 autistic males screened by our group, (Departments of Psychology and Human Genetics) thus far, 18 (14.5%) were found to be positive for the fra(X) site (200 will be screened by August, 1985). In addition, a high proportion of fra(X) cases were found to be either autistic or to show a number of characteristics similar to those displayed by autistic persons. This was confirmed in a controlled study using multivariate techniques. These observations suggested the hypothesis that fra(X) individuals, as a group, share a common set of behavioral characteristics with autistic individuals. Further, that this set of characteristics is less common among retarded individuals who are neither fra(X) nor autistic.
Our specific aims, therefore, are as follows: 1. To screen 300 additional autistic males for the fra(X) site; 2a. To compare the behavioral, speech and language characteristics of fra(X) autistic, fra(X) non-autistic, and autistic clients in order to determine which shared characteristics differentiate them from Down Syndrome controls. 2b. To determine if fra(X) individuals share a common set of characteristics which distinguish them from the autistic and Down Syndrome groups. 3. Through longitudinal cohort analysis, to determine if fra(X) autistic and non-fra(X) autistic groups follow divergent or parallel behavioral development when followed on a yearly basis. A behavioral link established between the fra(X) syndrome and autism will be extremely important both in terms of genetic counselling and in eventually ascertaining the bio-medical bases of some autistic behaviors.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Research Project (R01)
Project #
5R01MH038201-04
Application #
3376526
Study Section
(PCBA)
Project Start
1983-09-01
Project End
1988-08-31
Budget Start
1986-09-01
Budget End
1987-08-31
Support Year
4
Fiscal Year
1986
Total Cost
Indirect Cost

  Institution

Name
Institute for Basic Research in Dev Disabil
Department
Type
DUNS #
167205090
City
Staten Island
State
NY
Country
United States
Zip Code
10314

  Publications

Cohen, I L; Vietze, P M; Sudhalter, V et al. (1991) Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males. Am J Med Genet 38:498-502
Cohen, I L; Sudhalter, V; Pfadt, A et al. (1991) Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues. Am J Hum Genet 48:195-202
Sudhalter, V; Scarborough, H S; Cohen, I L (1991) Syntactic delay and pragmatic deviance in the language of fragile X males. Am J Med Genet 38:493-7
Sudhalter, V; Cohen, I L; Silverman, W et al. (1990) Conversational analyses of males with fragile X, Down syndrome, and autism: comparison of the emergence of deviant language. Am J Ment Retard 94:431-41
Cohen, I L; Vietze, P M; Sudhalter, V et al. (1989) Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. J Child Psychol Psychiatry 30:845-56
Fisch, G S; Cohen, I L; Jenkins, E C et al. (1988) Screening developmentally disabled male populations for fragile X: the effect of sample size. Am J Med Genet 30:655-63
Cohen, I L; Fisch, G S; Sudhalter, V et al. (1988) Social gaze, social avoidance, and repetitive behavior in fragile X males: a controlled study. Am J Ment Retard 92:436-46
Brown, W T; Jenkins, E C; Gross, A C et al. (1987) Further evidence for genetic heterogeneity in the fragile X syndrome. Hum Genet 75:311-21
Brown, W T; Jenkins, E C; Gross, A C et al. (1987) Genetics and expression of the fragile X syndrome. Ups J Med Sci Suppl 44:137-54
Fisch, G S; Cohen, I L; Wolf, E G et al. (1986) Autism and the fragile X syndrome. Am J Psychiatry 143:71-3

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