Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data

American Journal of Medical Genetics

Volumn 133 A, Issue 3, 2005, Pages 248-256

  Smith, Isabel M ^a,c   Nichols, Shana L ^a   Issekutz, Karina ^b   Blake, Kim ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

^c IWK HEALTH CENTRE   (Canada)

Author keywords

Autism; Behavior; Canadian Pediatric Surveillance Program (CPSP); CHARGE syndrome; Choanal atresia; Coloboma; Deafness; Development; Visual impairment

Indexed keywords

ADAPTIVE BEHAVIOR; ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; AUTISM; CANADA; CHILD; CHILD BEHAVIOR; CHILD DEVELOPMENT; CLINICAL FEATURE; COHORT ANALYSIS; EPIDEMIOLOGICAL DATA; FEMALE; HEALTH PROGRAM; HUMAN; INFANT; INTERVIEW; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; QUESTIONNAIRE; SENSORY DYSFUNCTION; STANDARDIZATION; SYNDROME CHARGE; TELEPHONE;

ABNORMALITIES, MULTIPLE; ADAPTATION, PSYCHOLOGICAL; ADOLESCENT; ADULT; AUTISTIC DISORDER; BEHAVIOR; CANADA; CHILD; CHILD, PRESCHOOL; CHOANAL ATRESIA; COHORT STUDIES; COLOBOMA; DEAFNESS; EAR; FEMALE; GENITALIA; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; MALE; SYNDROME;

EID: 14344255717     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30544     Document Type: Article

References (62)

1. Abi Daoud M, Gradstein J, Blake KD. 2002. CHARGE into the adolescent and adult decades. Paediatr Child Health 7(Suppl A):27A.
2. Bailey A, Le Couteur A, Gottesman I. 1995. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med 25:63-77.
3. Berument SK, Rutter M, Lord C, Pickles A, Bailey A. 1999. Autism Screening Questionnaire: Diagnostic validity. Br J Psychiatry 175:444-451.
4. Blake KD. 2002. "Incidence and prevalence of CHARGE association/syndrome" published by the Canadian Paediatric Surveillance Program (CPSP) 2002 Results: 20-24. http://www.cps.ca/english/CPSP/index.htm
5. Blake K, Brown D. 1993. CHARGE association looking at the future-the voice of a family support group. Child Care Health Dev 19:395-409.
6. Blake KD, Russell-Eggitt IM, Morgan DW, Ratcliffe JM, Wyse RK. 1990. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child 65:217-223.
7. Blake K, Davenport SH, Hall BD, Hefner MA, Pagon R, Williams MS, Lin AE, Graham JM Jr. 1998. CHARGE association - an update and review for the primary pediatrician. Clin Pediatrics 31:159-174.
8. Blake KD, Abi Daoud M, Gradstein J, Salem-Hartshorne N. 2005. Puberty and adolescence in CHARGE Syndrome. Paediatr Child Health (in press).
9. Brown R, Hobson RP, Lee A, Stevenson J. 1997. Are there "autistic-like" features in congenitally blind children? J Child Psychol Psychiatry 38:693-703.
10. Bryson SE, Bradley E. 2003. Prevalence of autism in a population of young adults with mental handicap (in preparation).
11. Bryson SE, Smith IM. 1998. Epidemiology of autism: Prevalence, associated characteristics, and implications for research and service delivery. Ment Retard Dev Dis Res Rev 4:97-103.
12. Burack J, Volkmar FR. 1992. Development of low- and high-functioning autistic children. J Child Psychol Psychiatry 33:607-616.
13. Cass H. 1998. Visual impairment and autism: Current questions and future research. Autism 2:117-138.
14. Drmic I, McConnell B, Roberts W, Rombough VJ, McDermott C, Czapinski P, Brian JA, Bryson SE. 2003. The co-existence of autism and moebius syndrome: Descriptive data from a new sample. Tampa, FL: Society for Research in Child Development.
15. Dykens EM, Rosner BA. 1999. Refining behavioral phenotypes: Personality-motivation in Williams and Prader-Willi syndromes. Am J Ment Retard 104:158-169.
16. Fenton G, D'Ardia C, Valente D, Del Vecchio I, Fabrizi A, Bernabei P. 2003. Vineland adaptive behaviour profiles in children with autism and moderate to severe developmental delay. Autism 7(3):269-287.
17. Fernell E, Olsson VA, Karlgren-Leitner C, Norlin B, Hagberg B. 1999. Autistic disorders in children with CHARGE association. Dev Med Child Neurol 41:270-272.
18. Filipek PA, Accardo PJ, Baranek GT, Cook EH Jr, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin S, Tuchman RF, Volkmar FR. 1999. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord 29:439-484.
19. Fombonne E. 2003. Epidemiological surveys of autism and other pervasive developmental disorders: An update. J Autism Dev Disord 33:365-382.
20. Freeman RD, Groenveld M. 2000. The behaviour of children and youth with visual and hearing disability. In: Gillberg C, O'Brien G, editors. Developmental disability and behaviour. London: Mac Keith Press. pp 27-42. Clin Dev Med 149.
21. Gillberg C, O'Brien G. 2000. Developmental disability and behaviour. London: Mac Keith Press. Clin in Dev Med 149.
22. Goldson E, Smith AC, Stewart JM. 1986. The CHARGE association: How well can they do? Am J Dis Child 140:918-921.
23. Goodman R, Minne C. 1995. Questionnaire screening for comorbid pervasive developmental disorders in congenitally blind children: A pilot study. J Autism Dev Disord 25:195-204.
24. Graham JM Jr. 2001. Editorial comment: A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet 99:120-123.
25. Hall B. 1979. Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
26. Hartshorne TS, Cypher AD. 2005. Challenging behavior in CHARGE Syndrome. Ment Health Aspec Dev Disabil (in press).
27. Hartshorne TS, Grialou TL, Parker KR. 2005. Autistic-like behavior in CHARGE syndrome. Am J Med Genet (this issue).
28. Harvey SA, Leaper PM, Bankier A. 1991. CHARGE association: Clinical manifestations and developmental outcome. Am J Med Genet 39:48-55.
29. Hittner H, Hirsch N, Kreh G, Rudolph A. 1979. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: A syndrome. Pediatr Pohthalmol Strabismus 16:122-128.
30. Hobson RP, Lee A, Brown R. 1999. Autism and congenital blindness. J Autism Dev Disord 29:45-56.
31. Ireton H. 1992. Child development inventory. Minneapolis, MN: Behavior Science Systems.
32. Issekutz KA, Blake KD, Smith IM, Prasad C, Graham JM. 2003. The incidence and prevalence of CHARGE association/syndrome. Paediatr Child Health 8(Suppl b):26B.
33. Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. 2005. An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. Am J Med Genet (this issue).
34. Johansson M, Wentz E, Fernell E, Strömland K, Miller MT, Gillberg C. 2001. Autistic spectrum disorders in M6bius sequence: A comprehensive study of 25 individuals. Dev Med Child Neurol 43:338-345.
35. Jure R, Rapin I, Tuchman RF. 1991. Hearing-impaired autistic children. Dev Med Child Neurol 33:1062-1072.
36. Lewis C, Lowther J. 2001. CHARGE Association: Symptoms, behaviour and intervention. Educ Psychol Pract 17:69-77.
37. Lin AE, Morter G, Siebert J, Graham JM Jr. 1990. Central nervous system malformations in the CHARGE association. Am J Med Genet 37:304-310.
38. Liss M, Harel B, Fein D, Allen D, Dunn M, Feinstien C, Morris R, Waterhouse L, Rapin I. 2001. Predictors and correlates of adaptive functioning in children with developmental disorders. J Autism Dev Disord 31:219-230.
39. Lord C, McGee JP, editors. 2001. Educating children with autism. Washington, DC: National Research Council.
40. 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 24:659-686.
41. O'Brien G, Yule W. 1995. Behavioural phenotypes. London: Mac Keith Press. Clin in Devel Med 138.
42. Ozonoff S, Williams BJ, Gale S, Miller JN. 1999. Autism and autistic behavior in Joubert syndrome. J Child Neurol 14:636-641.
43. Pagon RA, Graham JM Jr, Zonana J, Yong SL. 1981. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227.
44. Reiss AL, Feinstein C, Rosenbaum KN, Borengasser-Caruso M, Goldsmith B. 1985. Autism associated with Williams syndrome. J Pediatr 106:247-249.
45. Reynolds CR, Kamphaus RW. 1998. Behavior Assessment System for Children. Circle Pines MN: American Guidance Service.
46. 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.
47. Rodier PM, Bryson SE, Welch P. 1997. Minor malformations and physical measurements in autism: Data from Nova Scotia. Teratology 55:319-325.
48. Roper L, Arnold P, Monteiro B. 2003. Co-occurrence of autism and deafness: Diagnostic considerations. Autism 7:245-253.
49. Russell-Eggitt IM, Blake KD, Taylor DSI, Wyse RKH. 1990. The eye in the CHARGE association. Br J Ophthalmol 74:421-426.
50. Salem-Hartshorne N, Jacob S. 2005a. The prevalence of developmental delay in CHARGE Syndrome. J Early Interv (in press).
51. Salem-Hartshorne N, Jacob S. 2005b. Adaptive behavior in CHARGE syndrome. Am J Med Genet (this issue).
52. Scherer NJ, D'Antionio LL, Kalbfleisch JH. 1999. Early speech and language development children with velocardiofacial syndrome. Am J Med Genet (Neuropsychiatric Genet) 88:714-723.
53. Shprintzen RJ. 2000. Velo-cardio-facial syndrome: A distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 6:142-147.
54. Siebert JR, Graham JM Jr. MacDonald C. 1985. Pathologic features of the CHARGE Association: Support for involvement of the neural crest. Teratology 31:331-336.
55. Sockett PN. 1998. The Canadian Paediatric Surveillance Program: Two years of a system for investigating unusual paediatric disorders. Paediatr Child Health 3:240-245. http://www.pulsus.com/Paeds/ 03_04/sock_ed.htm.
56. Sonksen P, Dale N. 2002. Visual impairment in infancy: Impact on neurodevelopmental and neurobiological processes. Dev Med Child Neurol 44:782-791.
57. Sparrow SS, Balla DA, Cicchetti DV. 1984. Vineland adaptive behavior scales. Circle Pines MN: American Guidance Service.
58. Strömland K, Nordin V, Miller M, Åkerström B, Gillberg C. 1994. Autism in thalidomide embryopathy: A population study. Dev Med Child Neurol 36:351-356.
59. Strömland K, Miller M, Ekman-Joelsson B-M, Sjögreen L, Andersson-Norinder J, Jacobsson C, Johansson M, Danielsson S, Billstedt E, Gillberg C, Granström G. 2003. Malformations in CHARGE association arise during a limited time period early in pregnancy. Birth Defects Res 67:316.
60. Strömland K, Sjögreen L, Johansson M, Ekman Joelsson BM, Miller M, Danielsson S, Billstedt E, Gillberg C, Jacobsson C, Norinder JA, Granström G. 2005. CHARGE association in Sweden: Malformations and functional deficits. Am J Med Genet (this issue).
61. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. 1998. CHARGE syndrome: Report of 47 cases and review. Am J Med Genet 76:402-409.
62. Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI. 2001. Behavior phenotype in the RSH/Smith-Lemli-Opiz syndrome. Am J Med Genet 98:191-200.