Susan Folstein, Ph.D.

Susan Folstein, M.D., studies the interface between psychiatry and genetics. She has studied the psychiatry of Huntington's Disease and other Mendelian disorders, including achondroplasia and homocysteinuria, and the genetics of autism and other psychiatric disorders with complex inheritance patterns. In 1977, she published the first twin study of autism, demonstrating for the first time its very high heritability. This was followed by research to define the breadth of the genetically relevant phenotype found in families of autistic probands. Starting in 1994, her group collaborated with others to study genetic linkage of autism in multiplex families. The difficulties this entailed led her to start a collaboration with other investigators searching for autism genes, the Autism Genetics Cooperative, which has now grown into the Autism Genetics Project, or AGP. The AGP has made several advances in gene identification.

Selected Publications:

1. Folstein MF, Folstein SE, McHugh PR. 1975. Mini-Mental state: A practical method of grading the cognitive state of patients for the clinician. Journal of Psychiatric Research, 12:(3)189-198.
   
   
2. Folstein SE, Rutter M. 1977. Genetic influences and infantile autism. Nature, 265(5596):726-728.
   
   
3. Folstein SE, Phillips III JA, Meyers DA, Chase GA, Abbott MH, Franz ML, Waber PG, Kazazian HH, Conneally PM, Hobbs W, Tanzi R, Faryniarz A, Gibbons K, Gusella J. 1985. Huntington's disease: Two families with differing clinical features show linkage to the G8 probe. Science, 229:776-779.
   
   
4. Brandt J, Folstein SE, Folstein MF. 1988. Differential cognitive impairment in Alzheimer's disease and Huntington's disease. Annals of Neurology, 23:555-561.
   
   
5. Brandt J, Quaid KA, Folstein SE, Garber PA, Maestri NE, Abbott MH, Slavney PR, Franz ML. Kasch L, Kazazian Jr HH. 1989. Presymptomatic diagnosis of delayed-onset disease with linked DNA markers: The experience in Huntington's disease. Journal of the American Medical Association, 261:3108-3114.
   
   
6. Piven J, Berthier ML, Starkstein SE, Nehme E, Pearlson G, Folstein SE. 1990. Magnetic resonance imaging evidence for a defect of cerebral cortical development in autism. American Journal of Psychiatry, 147(6):734-739.
   
   
7. Landa R, Folstein S, Isaacs C. 1991. Spontaneous narrative-discourse performance of parents of autistic individuals. Journal of Speech and Hearing Research, 34:1339-1345.
   
   
8. Piven J, Chase GA, Landa R, Wzorek M, Gayle J, Cloud D, Folstein SE. 1991. Psychiatric disorders in the parents of autistic individuals. Journal of American Academy of Child and Adolescent Psychiatry, 30:471-478.
   
   
9. Piven J, Tsai G, Nehme E, Coyle JT, Chase GA, Folstein SE. 1991. Platelet serotonin, a possible marker for familial autism. Journal of Autism and Developmental Disorders 21(1):51-59.
   
   
10. Graham JE, Folstein SE. 1994. Affective Disorders in People with Autism. Journal of Autism and Developmental Disorders, 24:587-601.
    
    
11. Lainhart, JE., Piven, J., Wzorek, M., Landa, R., Santangelo, SL., Coon, H., & Folstein, SE. 1997. Macrocephaly in children and adults with autism. Journal of the American Academy of Child and Adolescent Psychiatry, 36(2):282-90.
    
    
12. Folstein, S. E. and B. Rosen-Sheidley. 2001. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2(12): 943-55.
    
    
13. McInnis, M. G., T. H. Lan, et al. 2003. Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12. Mol Psychiatry 8(3): 288-298.
    
    
14. Brown, WA, Cammuso K, Sachs H, Winklosky B, Mullane J, Bernier R, Svenson S, Arin D, Rosen-Sheidley B, and Folstein SE. 2003. Autism-Related Language, Personality, and Cognition in People with Absolute Pitch: a Preliminary Study Journal of Autism and Developmental Disorders 33:163-167
    
    
15. Tadevosyan-Leyfer O, Dowd M, Mankoski R, Winklosky B, Putnam B, McGrath L, Tager-Flusberg H, and Folstein SE. Principal Components Analysis of the Autism Diagnostic Interview. J Am Acad Child Adoloesc Psychiatry, 42: 864-872 (2003).
    
    
16. Sutcliffe, JS, Delahanty RJ, Prasad HC, McCauley JL, Han Jiang L, Li C, Folstein SE, Blakely RD. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Hum Genet 2005 Aug; 77(2):265-79. Epub 2005 Jul 1.
    
    
17. Mankoski, RE, Collins M, Ndosi NK, Mgalla EH, Sarwatt VV, Folstein SE. Etiologies of Autism in a Case-series from Tanzania.J Autism Dev Disord. 2006
    
    
18. Leyfer OT, Folstein SE, Bacalman S, Davis NO, Dinh E, Morgan J, Tager-Flusberg H, Lainhart JE. Comorbid psychiatric disorders in children with autism: interview development and rates of disorders. J Autism Dev Disord. 2006 Oct;36(7):849-61.
    
    
19. Ruser T, Arin D, Dowd M, Putnam S, Winklosky B, Rosen-Sheidley B, Piven J, Tomblin B, Tager-Flusberg H, and Folstein S. (2007) Communicative Competence in Parents of Children with Autism and Parents of Children with Specific Language Impairment. J Autism Dev Disord. Dec 2006. 37(7):1323-36.
    
    
20. Ovsanna T. Leyfer, Helen Tager-Flusberg, Michael Dowd, J. Bruce Tomblin, Susan E. Folstein 2008. Overlap between autism and specific language impairment: comparison of Autism Diagnostic Interview and Autism Diagnostic Observation Schedule scores. Autism Research1( 5): 284-296