Fragile X syndrome and Autism: two case studies
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Published
2010-09-01
How to Cite
García, R. (2010). Fragile X syndrome and Autism: two case studies. Revista De Psiquiatría Infanto-Juvenil, 27(3), 236–240. Retrieved from https://aepnya.eu/index.php/revistaaepnya/article/view/148
Issue
Section
Case reports
Keywords:
Fragile X syndrome, childhood, autismAbstract
This article contains a brief introduction of the Fragile X syndrome, its prevalence and main symptomatology and its relationship with Autism. This relationship is illustrated with 2 cases studies; one presenting with features highly suggestive of an autism diagnosis and one without the autistic symptomatology.
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References
1. Bailey DB, Mesibov GB, Hatton DD et al. Autistic behaviour in young boys with fragile X syndrome . J Autism Dev Disord 1990; 28: 499-508.
2. Bailey DB, Roberts J.E, Hooper S R, Hatton DD, Mirrett PL, Roberts JE, et al. Research on fragile X syndrome and autism: Implications for the study of genes, environments, and developmental language disorders. En: ML Rice & SF Warren. Developmental language disorders: From phenotypes to etiologies. Eds. :Mahwah, NJ: Erlbaum; 2004. p 121-153.
3. Bell M V, Hirst M.C, Nakahori Y, MacKinon RN, Roche H, Flint T J, et al. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell 1991; 64: 861-866.
4. Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S, & French J. Autism is associated with the fragile X syndrome. J Autism Dev Disord 1982; 12 (3): 303-308.
5. Cohen IL. A theoretical analysis of the role of hyperarousal in the learning and behavior of fragile X males. Ment Retard Dev Disabil Res Rev 1995; 1: 286-291.
6. Gillberg C, Wahlstrom J. Chromosome abnormalities in infantile autism and other childhood psychosis: a population study of 66 cases. Dev Med Child Neurol 1985; 27: 293-304.
7. Gringrass P, Barnicoat A. Retesting for fragile X syndrome in cytogenetically normal males. Dev Med Child Neurol 1998; 40: 62-64.
8. Hagerman RJ, Jackson AW, Levitas A et al. An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet 1986; 23: 359-374.
9. Knight SJL, Voelckel MA, Hirst MC, Flannery AV, Moncla A, Davies KE. Triplet repeat expansion at the FRAXE locus and X linked mild mental handicap. Am J Hum Genet 1994; 55: 81-86.
10. Le Couteur A, Rutter M, Lord C & Rios P. Autism Diagnostic Interview: A standardized investigator-based instrument. J Autism Dev Disord 1989; 19: 363-387.
11. Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, Pickles A, & Rutter M. The autism diagnostic observation schedulegeneric: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205-223.
12. Lord C, Rutter M, Goode S, Heemsberger J, Jordan H, Mawhood L et al . Autism Diagnostic Observation Schedule: A standardized observation of communication and social behaviour. J Autism Dev Disord 1989; 19:
185-212.
13. Reiss AL and Freund L. Fragile X syndrome, DSM-III-R, and autism. J Am Acad Child Adolesc Psychiatry 1990; 29 (6): 885-891.
14. Schopler E, Reichler RJ, de Vellis RF, & Daly, K. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 1980; 10: 91-103.
15. Schwarte A. Fragile X syndrome. Sch Psychol Q 2008; 23 (2): 290-300.
16. Sheldon L and Turk J. Monozigotic boys with fragile X syndrome. Dev Med Child Neurol 2000; 42: 768-774.
17. Turk J and Cornish K. Face recognition and emotion perception in boys with fragile X syndrome. J Intellect Disabil Res 1998; 42 (6): 490-499.
18. Turk J. The health and social aspects of fragile X syndrome. The fragile X society March 1996: 1-4.
19. Weiler IJ, Irwin SA, Klintsova AY, Spencer CM, Brazelton AD, Miyashiro K, et al. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 1997; 94: 5395-5400.
2. Bailey DB, Roberts J.E, Hooper S R, Hatton DD, Mirrett PL, Roberts JE, et al. Research on fragile X syndrome and autism: Implications for the study of genes, environments, and developmental language disorders. En: ML Rice & SF Warren. Developmental language disorders: From phenotypes to etiologies. Eds. :Mahwah, NJ: Erlbaum; 2004. p 121-153.
3. Bell M V, Hirst M.C, Nakahori Y, MacKinon RN, Roche H, Flint T J, et al. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell 1991; 64: 861-866.
4. Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S, & French J. Autism is associated with the fragile X syndrome. J Autism Dev Disord 1982; 12 (3): 303-308.
5. Cohen IL. A theoretical analysis of the role of hyperarousal in the learning and behavior of fragile X males. Ment Retard Dev Disabil Res Rev 1995; 1: 286-291.
6. Gillberg C, Wahlstrom J. Chromosome abnormalities in infantile autism and other childhood psychosis: a population study of 66 cases. Dev Med Child Neurol 1985; 27: 293-304.
7. Gringrass P, Barnicoat A. Retesting for fragile X syndrome in cytogenetically normal males. Dev Med Child Neurol 1998; 40: 62-64.
8. Hagerman RJ, Jackson AW, Levitas A et al. An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet 1986; 23: 359-374.
9. Knight SJL, Voelckel MA, Hirst MC, Flannery AV, Moncla A, Davies KE. Triplet repeat expansion at the FRAXE locus and X linked mild mental handicap. Am J Hum Genet 1994; 55: 81-86.
10. Le Couteur A, Rutter M, Lord C & Rios P. Autism Diagnostic Interview: A standardized investigator-based instrument. J Autism Dev Disord 1989; 19: 363-387.
11. Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, Pickles A, & Rutter M. The autism diagnostic observation schedulegeneric: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205-223.
12. Lord C, Rutter M, Goode S, Heemsberger J, Jordan H, Mawhood L et al . Autism Diagnostic Observation Schedule: A standardized observation of communication and social behaviour. J Autism Dev Disord 1989; 19:
185-212.
13. Reiss AL and Freund L. Fragile X syndrome, DSM-III-R, and autism. J Am Acad Child Adolesc Psychiatry 1990; 29 (6): 885-891.
14. Schopler E, Reichler RJ, de Vellis RF, & Daly, K. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 1980; 10: 91-103.
15. Schwarte A. Fragile X syndrome. Sch Psychol Q 2008; 23 (2): 290-300.
16. Sheldon L and Turk J. Monozigotic boys with fragile X syndrome. Dev Med Child Neurol 2000; 42: 768-774.
17. Turk J and Cornish K. Face recognition and emotion perception in boys with fragile X syndrome. J Intellect Disabil Res 1998; 42 (6): 490-499.
18. Turk J. The health and social aspects of fragile X syndrome. The fragile X society March 1996: 1-4.
19. Weiler IJ, Irwin SA, Klintsova AY, Spencer CM, Brazelton AD, Miyashiro K, et al. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 1997; 94: 5395-5400.
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