Journal of the American Academy of Child & Adolescent Psychiatry
Volume 49, Issue 9 , Pages 921-933 , September 2010

Autism in Fragile X Syndrome: A Category Mistake?

,Accepted 9 July 2010.

References 

  1. Hall SS, Lightbody AA, Huffman LC, Lazzeroni LC, Reiss AL. Physiological correlates of social avoidance behavior in children and adolescents with fragile X syndrome. J Am Acad Child Adolesc Psychiatry. 2009;48:320–329
  2. Cohen IL, Vietze PM, Sudhalter V, Jenkins EC, Brown WT. Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. J Child Psychol Psychiatry. 1989;30:845–856
  3. Sudhalter V, Cohen IL, Silverman W, Wolf-Schein EG. Conversational analyses of males with fragile X, Down syndrome, and autism: comparison of the emergence of deviant language. Am J Ment Retard. 1990;94:431–441
  4. Bailey DB, Hatton DD, Skinner M, Mesibov G. Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. J Autism Dev Disord. 2001;31:165–174
  5. Brown WT, Jenkins EC, Friedman E, et al. Autism is associated with the fragile-X syndrome. J Autism Dev Disord. 1982;12:303–308
  6. Dissanayake C, Bui Q, Bulhak-Paterson D, Huggins R, Loesch DZ. Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome. J Child Psychol Psychiatry. 2009;50:290–299
  7. Hagerman RJ, Jackson AW, Levitas A, Rimland B, Braden M. An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet. 1986;23:359–374
  8. Hatton DD, Sideris J, Skinner M, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A. 2006;140A:1804–1813
  9. Philofsky A, Hepburn SL, Hayes A, Hagerman R, Rogers SJ. Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. Am J Ment Retard. 2004;109:208–218
  10. Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE. Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. Am J Med Genet A. 2009;149A:1125–1137
  11. Kaufmann WE, Cortell R, Kau AS, et al. Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet A. 2004;129A:225–234
  12. Budimirovic DB, Bukelis I, Cox C, Gray RM, Tierney E, Kaufmann WE. Autism spectrum disorder in fragile X syndrome: differential contribution of adaptive socialization and social withdrawal. Am J Med Genet A. 2006;140A:1814–1826
  13. Kau AS, Tierney E, Bukelis I, et al. Social behavior profile in young males with fragile X syndrome: characteristics and specificity. Am J Med Genet A. 2004;126A:9–17
  14. American_Psychiatric_Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed.. Washington, DC: American Psychiatric Association; 1994;
  15. Rutter M, LeCouteur C, Lord C. Autism Diagnostic Interview–Revised. Los Angeles, CA: Western Psychological Services; 2003;
  16. Lord C, Rutter M, Goode S, et al. Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord. 1989;19:185–212
  17. Rogers SJ, Wehner DE, Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr. 2001;22:409–417
  18. Clifford S, Dissanayake C, Bui QM, Huggins R, Taylor AK, Loesch DZ. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord. 2007;37:738–747
  19. Harris SW, Hessl D, Goodlin-Jones B, et al. Autism profiles of males with fragile X syndrome. Am J Ment Retard. 2008;113:427–438
  20. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65:905–914
  21. Happe F, Ronald A, Plomin R. Time to give up on a single explanation for autism. Nat Neurosci. 2006;9:1218–1220
  22. Wing L, Potter D. The epidemiology of autistic spectrum disorders: is the prevalence rising?. Ment Retard Dev Disabil Res Rev. 2002;8:151–161
  23. Holburn CS. Detrimental effects of overestimating the occurrence of autism. Intellect Dev Disabil. 2008;46:243–246
  24. Reiss AL. Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics. J Child Psychol Psychiatry. 2009;50:87–98
  25. Skellern C, Schluter P, McDowell M. From complexity to category: responding to diagnostic uncertainties of autistic spectrum disorders. J Paediatr Child Health. 2005;41:407–412
  26. Moss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res. 2009;53:852–873
  27. Einfeld S, Molony H, Hall W. Autism is not associated with the fragile X syndrome. Am J Med Genet. 1989;34:187–193
  28. Fisch GS. Is autism associated with the fragile X syndrome?. Am J Med Genet. Apr 15-May 1 1992;43(1-2):47–55
  29. Fisch GS. What is associated with the fragile X syndrome?. Am J Med Genet. 1993;48:112–121
  30. Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217–250
  31. Cohen IL, Vietze PM, Sudhalter V, Jenkins EC, Brown WT. Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males. Am J Med Genet. 1991;38:498–502
  32. Bailey DB, Mesibov GB, Hatton DD, Clark RD, Roberts JE, Mayhew L. Autistic behavior in young boys with fragile X syndrome. J Autism Dev Disord. 1998;28:499–508
  33. Baieli S, Pavone L, Meli C, Fiumara A, Coleman M. Autism and phenylketonuria. J Autism Dev Disord. 2003;33:201–204
  34. Starr EM, Berument SK, Tomlins M, Papanikolaou K, Rutter M. Brief report: autism in individuals with Down syndrome. J Autism Dev Disord. 2005;35:665–673
  35. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2006;140:1511–1518
  36. Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004;66:530–536
  37. Johansson M, Rastam M, Billstedt E, et al. Autism spectrum disorders and underlying brain pathology in CHARGE association. Dev Med Child Neurol. 2006;48:40–50
  38. Hartshorne TS, Grialou TL, Parker KR. Autistic-like behavior in CHARGE syndrome. Am J Med Genet A. 2005;133A:257–261
  39. Klein-Tasman BP, Mervis CB, Lord C, Phillips KD. Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule. Child Neuropsychol. 2007;13:444–467
  40. Berument SK, Rutter M, Lord C, Pickles A, Bailey A. Autism screening questionnaire: diagnostic validity. Br J Psychiatry. 1999;175:444–451
  41. Lord C, Rutter M, DiLavore PC, Risi S. Autism Diagnostic Observation Schedule (Manual). Los Angeles: Western Psychological Services; 2002;
  42. Hall SS, Lightbody AA, Reiss AL. Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard. 2008;113:44–53
  43. Rutter M, Bailey A, Lord C. The Social Communication Questionaire. Manual. Los Angeles: Western Psychological Services; 2003;
  44. Willemsen R, Smits A, Mohkamsing S, et al. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet. 1997;99:308–311
  45. Wechsler D. Wechsler Intelligence Scale for Children—Third Edition (Manual). San Antonio, TX: Psychological Corporation; 1991;
  46. Wechsler D. Wechsler Adult Intelligence Scale—Third Edition (Manual). San Antonio, TX: Psychological Corporation; 1997;
  47. Hessl D, Dyer-Friedman J, Glaser B, et al. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics. 2001;108:E88
  48. Eliez S, Blasey CM, Freund LS, Hastie T, Reiss AL. Brain anatomy, gender and IQ in children and adolescents with fragile X syndrome. Brain. 2001;124:1610–1618
  49. Gothelf D, Furfaro JA, Hoeft F, et al. Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Ann Neurol. 2008;63:40–51
  50. Langen M, Durston S, Staal WG, Palmen SJ, van Engeland H. Caudate nucleus is enlarged in high-functioning medication-naive subjects with autism. Biol Psychiatry. 2007;62:262–266
  51. Mosconi MW, Cody-Hazlett H, Poe MD, Gerig G, Gimpel-Smith R, Piven J. Longitudinal study of amygdala volume and joint attention in 2- to 4-year-old children with autism. Arch Gen Psychiatry. 2009;66:509–516
  52. Hazlett HC, Poe MD, Lightbody AA, et al. Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism. J Neurodev Disord. 2009;1:81–90
  53. Hall SS. Treatments for fragile X syndrome: a closer look at the data. Dev Disabil Res Rev. 2009;15:353–360
  54. Reiss AL, Hall SS. Fragile X syndrome: assessment and treatment implications. Child Adolesc Psychiatr Clin North Am. 2007;16:663–675
  55. Hall SS, Maynes NP, Reiss AL. Using percentile schedules to increase eye contact in children with fragile X syndrome. J Appl Behav Anal. 2009;42:171–176
  56. Hall SS, Debernardis GM, Reiss AL. The acquisition of stimulus equivalence in individuals with fragile X syndrome. J Intellect Disabil Res. 2006;50:643–651
  57. Ryle G. The Concept of Mind. Chicago, IL: University of Chicago Press; 1949;

 This research was supported by National Institute of Mental Health grants MH50047 and MH01142 and the Canel Fragile X Family Fund.

 Disclosure: Drs. Hall, Lightbody, and Reiss, and Ms. Hirt and Ms. Rezvani report no biomedical financial interests or potential conflicts of interest.

PII: S0890-8567(10)00526-5

doi: 10.1016/j.jaac.2010.07.001

Journal of the American Academy of Child & Adolescent Psychiatry
Volume 49, Issue 9 , Pages 921-933 , September 2010