Essential versus complex autism: Definition of fundamental prognostic subtypes

American Journal of Medical Genetics

Volumn 135 A, Issue 2, 2005, Pages 171-180

  Miles, J H ^a   Takahashi, T N ^a   Bagby, S ^a   Sahota, P K ^a   Vaslow, D F ^a   Wang, C H ^a   Hillman, R E ^a   Farmer, J E ^a  

^a UNIVERSITY OF MISSOURI   (United States)

Author keywords

Autism; Dysmorphology; Essential; Head circumference; Outcome

Indexed keywords

ARTICLE; AUTISM; BRAIN MALFORMATION; ELECTROENCEPHALOGRAM; FEMALE; HEAD CIRCUMFERENCE; HERITABILITY; HUMAN; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MORPHOGENESIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT COUNSELING; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; SEIZURE; SENSITIVITY AND SPECIFICITY; SEX RATIO; TERATOLOGY;

ADOLESCENT; ADULT; AUTISTIC DISORDER; BRAIN; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HUMANS; INFANT; INTELLIGENCE; INTELLIGENCE TESTS; LANGUAGE DISORDERS; LOGISTIC MODELS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PROGNOSIS;

EID: 20044382649     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30590     Document Type: Article

References (100)

1. Aase JM. 1990. Diagnostic dysmorphology. New York: Plenum Press.
2. American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychiatric Association.
3. Andreasen NC, Rice J, Endicott J, Reich T, Coryell W. 1986. The family history approach to diagnosis. How useful is it? Arch Gen Psychiatry 43:421-429.
4. Asperger H. 1944. Die autistischen psychopathen in kindersalter. Cambridge: Cambridge University Press.
5. Bailey A, Phillips W, Rutter M. 1996. Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry 37:89-126.
6. Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, Rutter M, Lantos P. 1998. A clinicopathological study of autism. Brain 121:889-905.
7. Beglinger LJ, Smith TH. 2001. A review of subtyping in autism and proposed dimensional classification model. J Autism Dev Disord 31:411-422.
8. Campbell M, Geller B, Small AM, Petti TA, Ferris SH. 1978. Minor physical anomalies in young psychotic children. Am J Psychiatry 135:573-575.
9. Carter CO. 1976. Genetics of common single malformations. Br Med Bull 32:21-26.
10. Castelloe P, Dawson G. 1993. Subclassification of children with autism and pervasive developmental disorder: A questionnaire based on Wing's subgrouping scheme. J Autism Dev Disord 23:229-241.
11. Chakrabarti S, Fombonne E. 2001. Pervasive developmental disorders in preschool children. JAMA 285:3093-3099.
12. Cohen DJ, Paul R, Volkmar FR. 1987. Issues in the classification of pervasive developmental disorders and associated conditions. In: Cohen DJ, Donnellan AM, editors. Handbook of autism and pervasive developmental disorders. New York: Wiley & Sons, pp 20-40.
13. Coleman M. 1990. Delineation of the subgroups of the autistic syndrome. Brain Dysfunction 3:208-217.
14. Davies NJ, Sham PC, Gilvarry C, Jones PB, Murray RM. 1997. Comparison of the family history with the family study method: Report from the Camberwell Collaborative Psychosis Study. Am J Hum Genet 74:12-17.
15. DeLong GR. 1999. Autism: New data suggest a new hypothesis. Neurology 52:911-916.
16. DeLong GR, Dwyer JT. 1988. Correlation of family history with specific autistic subgroups: Asperger's syndrome and bipolar affective disease. J Autism Dev Disord 18:593-600.
17. Deutsch CK, Joseph RM. 2003. Brief report: Cognitive correlates of enlarged head circumference in children with autism. J Autism Dev Disord 33:209-215.
18. Eisenmajer R, Prior M, Leekam S, Wing L, Gould J, Welham M, Ong B. 1996. Comparison of clinical symptoms in autism and Asperger's disorder. J Am Acad Child Adolesc Psychiatry 35:1523-1531.
19. Fein D, Stevens MC, Dunn M, Waterhouse L, Allen D, Rapin I, Feinstein C. 1999. Subtypes of pervasive developmental disorder: Clinical characteristics. Child Neuropsych 5:1-23.
20. Folstein SE, Bisson E, Santangelo SL, Piven J. 1998. Finding specific genes that cause autism: A combination of approaches will be needed to maximize power. J Autism Dev Disord 28:439-445.
21. Fombonne E, Bolton P, Prior J, Jordan H, Rutter M. 1997. A family study of autism: Cognitive patterns and levels in parents and siblings. J Child Psychol Psychiatry 38:667-683.
22. Fraser FC. 1976. The multifactorial/threshold concept-uses and misuses. Teratology 14:267-280.
23. Freeman BJ, Rahbar B, Ritvo ER, Bice TL, Yokota A, Ritvo R. 1991. The stability of cognitive and behavioral parameters in autism: A twelve-year prospective study. J Am Acad Child Adolesc Psychiatry 30:479-482.
24. Gillberg C. 1989. Asperger syndrome in 23 Swedish children. Dev Med Child Neurol 31:520-531.
25. Gillberg C. 1999. Autism and its spectrum disorders. In: Bouras N, editor. Psychiatric and behavioral disorders in developmental disabilities and mental retardation. Cambridge, MA: Cambridge University Press, pp 73-95.
26. Gillberg C, Wing L. 1999. Autism: Not an extremely rare disorder. Acta Psychiatr Scand 99:399-406.
27. Gorlin RJ, Cohen MMJ, Levin LS. 1990. Syndromes of the head and neck. New York: Oxford University Press.
28. Gualtieri CT, Adams A, Shen CD, Loiselle D. 1982. Minor physical anomalies in alcoholic and schizophrenic adults and hyperactive and autistic children. Am J Psychiatry 139:640-643.
29. Hall JG, Froster-Iskenius UG, Allanson JE. 1989. Handbook of normal physical measurements. New York: Oxford University Press.
30. Hughes C, Plumet MH, Leboyer M. 1999. Towards a cognitive phenotype for autism: Increased prevalence of executive dysfunction and superior spatial span amongst siblings of children with autism. J Child Psychol Psychiatry 40:705-718.
31. Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, Haines JL. 2003. Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet 117B:90-96.
32. Jones KL. 1997. Smith's recognizable patterns of human malformation. Philadelphia: WB Saunders Company.
33. Jorde LB, Mason-Brothers A, Waldmann R, Ritvo ER, Freeman BJ, Pingree C, McMahon WM, Petersen B, Jenson WR, Mo A. 1990. The UCLA-University of Utah epidemiologic survey of autism: Genealogical analysis of familial aggregation. Am J Hum Genet 36:85-88.
34. Joseph RM, Tager-Flusberg H, Lord C. 2002. Cognitive profiles and social-communicative functioning in children with autism spectrum disorder. J Child Psychol Psychiatry 43:807-821.
35. Kanner L. 1943. Autistic disturbances of affective contact. The Nervous Child 2:217-250.
36. Kobayashi R, Murata T, Yoshinaga K. 1992. A follow-up study of 201 children with autism in Kyushu and Yamaguchi areas, Japan. J Autism Dev Disord 22:395-411.
37. Le Couteur A, Bailey A, Goode S, Pickles A, Robertson S, Gottesman I, Rutter M. 1996. A broader phenotype of autism: The clinical spectrum in twins. J Child Psychol Psychiatry 37:785-801.
38. Lincoln AJ, Allen MH, Kilman A. 1995. The assessment and interpretation of intellectual abilities in people with autism. In: Schopler E, Mesibov GB, editors. Learning and cognition in autism. New York and London: Plenum Press.
39. Links PS. 1980. Minor physical anomalies in childhood autism. Part II. Their relationship to maternal age. J Autism Dev Disord 10:287-292.
40. Links PS, Stockwell M, Abichandani F, Simeon J. 1980. Minor physical anomalies in childhood autism. Part I. Their relationship to pre- and perinatal complications. J Autism Dev Disord 10:273-285.
41. Lord C, Schopler E. 1989a. Stability of assessment results of autistic and non-autistic language-impaired children from preschool years to early school age. J Child Psychol Psychiatry 30:575-590.
42. Lord C, Schopler E. 1989b. The role of age at assessment, developmental level, and test in the stability of intelligence scores in young autistic children. J Autism Dev Disord 19:483-499.
43. Lord C, Rutter M, Le Couteur A. 1994. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
44. Lord C, Rutter M, DiLavore PC. 1998. Manual for the Autism Diagnostic Observation Schedule.
45. Lord C, Rutter M, DiLavore PC, Risi S. 1999. Autism diagnostic observation schedule-WPS. Los Angeles, CA: Western Psychological Services.
46. Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M. 2000. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30:205-223.
47. Lotter V. 1966. Epidemiology of autistic conditions in young children. Soc Psychiatry 1:124-137.
48. MacLean JE, Szatmari P, Jones MB, Bryson SE, Mahoney WJ, Bartolucci G, Tuff L. 1999. Familial factors influence level of functional in pervasive developmental disorder. J Am Acad Child Adolesc Psychiatry 38:746-753.
49. Marazita ML, Field LL, Cooper ME, Tobias R, Maher BS, Peanchitlertkajorn S, Liu YE. 2002. Genome scan for Loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. Am J Hum Genet 71:349-364.
50. Miles JH, Hillman RE. 2000. Value of a clinical morphology examination in autism. Am J Med Genet 91:245-253.
51. Miles JH, Hadden L, Takahashi TN, Hillman RE. 2000a. Head circumference is an independent clinical finding associated with autism. Am J Med Genet 95:339-350.
52. Miles JH, Takahashi TN, Mudrick J. 2000b. Repetitive behaviors differentiate autism subgroups. Am J Hum Genet 67:117.
53. Miles JH, Takahashi TN, Sahota PK, Jones C, Hillman RE. 2001. Essential vs. complex autism: Definition of fundamental prognostic subtypes. Am J Hum Genet 69:193.
54. Miles J, Bocian M, Farmer J, Takahashi N, Spence M, Braddock S, Martin R, Hong J. 2003. Autism and dysmorphology: A valid observational measure. Am J Hum Genet 738:288.
55. Miller JN, Ozonoff S. 2000. The external validity of Asperger disorder: Lack of evidence from the domain of neuropsychology. J Abnorm Psychol 109:227-238.
56. Mnukhin SS, Isaev DN. 1975. On the organic nature of some forms of schizoid or autistic psychopathy. J Autism Child Schizophr 5:99-108.
57. Orvaschel H, Thompson WD, Belanger A, Prusoff BA, Kidd KK. 1982. Comparison of the family history method to direct interview. Factors affecting the diagnosis of depression. J Affect Disord 4:49-59.
58. Pickles A, Starr E, Kazak S, Bolton P, Papanikolaou K, Bailey A, Goodman R, Rutter M. 2000. Variable expression of the autism broader phenotype: Findings from extended pedigrees. J Child Psychol Psychiatry 41:491-502.
59. Piven J, Palmer P. 1997. Cognitive deficits in parents from multiple-incidence autism families. J Child Psychol Psychiatry 38:1011-1021.
60. Prizant B, Schuler AL. 1987. Facilitating communication: Language approaches. In: Cohen DJ, Donnelan A, editors. Handbook of autism and pervasive developmental disorders. New York: Wiley & Sons.
61. Rice JP, Reich T, Bucholz KK, Neuman RJ, Fishman R, Rochberg N, Hesselbrock VM, Nurnberger JI Jr, Schuckit MA, Begleiter H. 1995. Comparison of direct interview and family history diagnoses of alcohol dependence. Alcohol Clin Exp Res 19:1018-1023.
62. Roach ES, DiMario FJ, Kandt RS, Northrup H. 1999. Tuberous Sclerosis Consensus Conference: Recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 14:401-407.
63. Rodier PM. 2002. Converging evidence for brain stem injury in autism. Dev Psychopathol 14:537-557.
64. Rodier PM, Ingram JL, Tisdale B, Nelson S, Romano J. 1996. Embryological origin for autism: Developmental anomalies of the cranial nerve motor nuclei. J Comp Neurol 370:247-261.
65. Roid GH. 1997. Leiter international performance scale-revised: Examiners manual. Wood Dale, IL: Stoelting.
66. Roux S, Adrien JL, Bruneau N, Garreau B, Couturier G, Gomot M, Barthelemy C. 1997. Classification of autistic syndrome using behavioral and electrophysiological assessments. Dev Brain Dysfunct 10:28-39.
67. Rutter M. 1983. Cognitive deficits in the pathogenesis of autism. J Child Psychol Psychiatry 24:513-531.
68. Rutter M, Schopler E. 1988. Concepts and diagnostic issues. In: Schopler E, Mesibov GB, editors. Diagnosis and assessment in autism. New York: Plenum Press.
69. Schopler E, Reichler RJ, Renner BR. 1986. The childhood autism rating scale (CARS) for diagnostic screening and classification of autism. New York: Irvington.
70. Semel E, Wiig EH, Secord WA. 1995. CELF-3: Clinical evaluation of language fundamentals. Third Edition, Examiner's Manual. San Antonio: Psychological Corporation.
71. Sigman M, Ruskin E, Arbeile S, Corona R, Dissanayake C, Espinosa M, Kim N, Lopez A, Zierhut C. 1999. Continuity and change in the social competence of children with autism, Down syndrome, and developmental delays. Monogr Soc Res Child Dev 64:1-114.
72. Silverman JM, Smith CJ, Schmeidler J, Hollander E, Lawlor BA, Fitzgerald M, Buxbaum JD, Delaney K, Galvin P. 2002. Symptom domains in autism and related conditions: Evidence for familiality. Am J Med Genet 114:64-73.
73. Smalley SL, Asarnow RF, Spence MA. 1988. Autism and genetics. A decade of research. Arch Gen Psychiatry 45:953-961.
74. Sparrow S, Balla D, Cicchetti D. 1984. Vineland adaptive behavior scales. Circle Pines, MN: American Guidance Service.
75. Spence MA. 2001. The genetics of autism. Curr Opin Pediatr 13:561-565.
76. Spiker D. 1999. The role of genetics in autism. Infan Young Children 12:55-63.
77. Spiker D, Lotspeich LJ, Dimiceli S, Myers RM, Risch N. 2002. Behavioral phenotypic variation in autism multiplex families: Evidence for a continuous severity gradient. Am J Med Genet 114:129-136.
78. Steffenburg S, Gillberg C. 1986. Autism and autistic-like conditions in Swedish rural and urban areas: A population study. Br J Psychiatry 149:81-87.
79. Steg JP, Rapoport JL. 1975. Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. J Autism Child Schizophr 5:299-307.
80. Stevens MC, Fein DA, Dunn M, Allen D, Waterhouse LH, Feinstein C, Rapin I. 2000. Subgroups of children with autism by cluster analysis: A longitudinal examination. J Am Acad Child Adolesc Psychiatry 39:346-352.
81. Stoelb M, Yarnal R, Miles JH, Takahashi TN, Farmer J, McCathren R. 2004. Predicting responsiveness to treatment of children with autism: The importance of physical dysmorphology. Focus Autism Other Dev Disabil 19:66-77.
82. Szatmari P. 1992. The validity of autistic spectrum disorders: A literature review. J Autism Dev Disord 22:583-600.
83. Szatmari P. 1999. Heterogeneity and the genetics of autism. J Psychiatry Neurosci 24:159-165.
84. Szatmari P, Bartolucci G, Bremner R, Bond S, Rich S. 1989. A follow-up study of high-functioning autistic children. J Autism Dev Disord 19:213-225.
85. Szatmari P, Jones MB, Holden J, Bryson S, Mahoney W, Tuff L, MacLean J, White B, Bartolucci G, Schutz C, Robinson P, Hoult L. 1996. High phenotypic correlations among siblings with autism and pervasive developmental disorders. Am J Med Genet 67:354-360.
86. Thompson WD, Orvaschel H, Prusoff BA, Kidd KK. 1982. An evaluation of the family history method for ascertaining psychiatric disorders. Arch Gen Psychiatry 39:53-58.
87. Thorndike RL, Hagen EP, Sattler JM. 1986. Stanford-Binet intelligence scale. Riverside, CA: Riverside.
88. Venter A, Lord C, Schopler E. 1992. A follow-up study of high-functioning autistic children. J Child Psychol Psychiatry 33:489-507.
89. Volkmar FR. 1992. Childhood disintegrative disorder: Issues for DSM-IV. J Autism Dev Disord 22:625-642.
90. Volkmar FR, Cohen DJ, Bregman JD, Hooks MY, Stevenson JM. 1989. An examination of social typologies in autism. J Am Acad Child Adolesc Psychiatry 28:82-86.
91. Volkmar FR, Klin A, Pauls D. 1998. Nosological and genetic aspects of Asperger syndrome. J Autism Dev Disord 28:457-463.
92. Waldrop MF, Halverson CF. 1971. Minor physical anomolies and hyperactive behavior in young children. In: Hellmuth J, editor. Exceptional infant: Studies in abnormalities. New York: Brunner/Mazel. pp 343-381.
93. Walker HA. 1977. Incidence of minor physical anomaly in autism. J Autism Child Schizophr 7:165-176.
94. Wechsler D. 1991. Manual for the Wechsler scale for children. San Antonio, TX: Psychological Corp.
95. Wing L. 1981a. Language, social, and cognitive impairments in autism and severe mental retardation. J Autism Dev Disord 11:31-44.
96. Wing L. 1981b. Sex ratios in early childhood autism and related conditions. Psychiatry Res 5:129-137.
97. Wing L, Atwood A. 1987. Syndromes of autism and atypical development. In: Cohen DJ, Donnelan A, editors. Handbook of autism and pervasive developmental disorders. New York: Wiley & Sons.
98. Wing L, Gould J. 1979. Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. J Autism Dev Disord 9:11-29.
99. World Health Organization. 1992. ICD-10 Classification of mental and behavioral disorders: Clinical descriptions and diagnostic guidelines. Geneva.
100. Yuan H, Marazita ML, Hill SY. 1996. Segregation analysis of alcoholism in high density families: A replication. Am J Med Genet 67:71-76.