The prevalence and phenomenology of repetitive behavior in genetic syndromes

Journal of Autism and Developmental Disorders

Volumn 39, Issue 4, 2009, Pages 572-588

  Moss, Joanna ^a,b   Oliver, Chris ^a   Arron, Kate ^a   Burbidge, Cheryl ^a,c   Berg, Katy ^a,d  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c Department of Psychology   (United Kingdom)

^d UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Autism spectrum disorder; Behavioral phenotype; Compulsive havior; Repetitive behavior; Stereotyped behavior

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CAT CRY SYNDROME; CHILD; COMPULSION; DE LANGE SYNDROME; DISEASE ASSOCIATION; FEMALE; FRAGILE X SYNDROME; GENETIC DISORDER; HAPPY PUPPET SYNDROME; HUMAN; INTELLECTUAL IMPAIRMENT; LOWE SYNDROME; MAJOR CLINICAL STUDY; MALE; PHENOMENOLOGY; PRADER WILLI SYNDROME; PREVALENCE; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME;

ADOLESCENT; ADULT; ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; CRI-DU-CHAT SYNDROME; DE LANGE SYNDROME; FEMALE; FRAGILE X SYNDROME; HUMANS; LONDON; MALE; MENTAL RETARDATION; MIDDLE AGED; PHENOTYPE; PRADER-WILLI SYNDROME; PREVALENCE; QUESTIONNAIRES; STEREOTYPED BEHAVIOR; SYNDROME; YOUNG ADULT;

EID: 62249223967     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-008-0655-6     Document Type: Article

References (66)

1. BS Abrahams DH Geschwind 2008 Advances in autism genetics: On the threshold of a new neurobiology Nature Reviews Genetics 9 341 355
2. American Psychiatric Association. (1987, 1994). Diagnostic and statistical manual of mental disorders. Fourth edition (DSM-IV). Washington DC: American Psychiatric Association.
3. H Ando I Yoshimura 1979 Prevalence of maladaptive behavior in retarded children as a function of IQ and age Journal of Abnormal Child Psychology 6 345 349 10.1007/BF00924737
4. M Backes B Genc J Schreck W Doerler G Lehmkuhl A von Gontard 2000 Cognitive and behavioral profile of Fragile X boys: Correlations to molecular data American Journal of Medical Genetics 95 150 156 10.1002/1096-8628(20001113) 95:2<150::AID-AJMG11>3.0.CO;2-1
5. S Baron-Cohen 1989 Do autistic children have obsessions and compulsions? The British Journal of Clinical Psychology 28 193 199
6. TL Baumgardner AL Reiss LS Freund MT Abrams 1995 Specification of the neurobehavioral phenotype in males with Fragile X syndrome Pediatrics 95 744 752
7. SK Berument M Rutter C Lord A Pickles A Bailey 1999 Autism Screening Questionnaire:Diagnostic validity The British Journal of Psychiatry 175 444 451
8. Bodfish, J. W., Symons, F. J., & Lewis, M. H. (1998). The Repetitive Behavior Scales-Revised. Western Carolina Research Reports.
9. RH Buckley N Dinno P Weber 1998 Angelman syndrome: Are the estimates too low American Journal of Medical Genetics 80 385 390 10.1002/(SICI)1096- 8628(19981204)80:4<385::AID-AJMG15>3.0.CO;2-9
10. Burbidge, C., & Oliver, C. (2008). The Activity Questionnaire. Manual for administration and score interpretation. University of Birmingham.
11. L Burd B Vesely J Martsolf J Kerbeshian 1990 Prevalence study of Prader-Willi syndrome in North Dakota American Journal of Medical Genetics 37 97 99 10.1002/ajmg.1320370122
12. SB Cassidy EM Dykens CA Williams 2000 Prader-Willi and Angelman syndromes: Sister imprinted disorders American Journal of Medical Genetics 97 136 146 10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V
13. D Clarke H Boer 1998 Problem behaviors associated with deletion Prader-Willi, Smith-Magenis and Cri Du Chat syndromes American Journal of Mental Retardation 103 264 271 10.1352/0895-8017(1998)103<0264:PBAWDP>2.0.CO;2
14. DJ Clarke H Boer MC Chung P Sturmey T Webb 1996 Maladaptive behaviour in Prader-Willi syndrome in adult life Journal of Intellectual Disability Research 40 159 165
15. K Cornish D Bramble F Munir J Pigram 1999 Cognitive functioning in children with typical cri du chat (5p-) syndrome Developmental Medicine and Child Neurology 41 263 266 10.1017/S0012162299000559
16. K Cornish J Pigram 1996 Developmental and behavioural characteristics of Cri du Chat syndrome Archives of Disease in Childhood 75 448 450
17. MA Deardorff M Kaur D Yaeger A Rampuria S Korolev J Pie C Gil-Rodriguez 2007 Mutations in cohesin complex members SMC 3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with pre-dominant mental retardation American Journal of Human Genetics 80 485 494
18. EM Dykens 1995 Measuring behavioral phenotypes: Provocations from the 'new genetics'American Journal of Mental Retardation 99 522 532
19. EM Dykens BM Finucane C Gayley 1997 Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome Journal of Autism and Developmental Disorders 27 203 209 10.1023/A:1025800126086
20. Dykens, E. M., Hodapp, R. M., & Finucane, B. M. (2000). Genetics and mental retardation syndromes. Baltimore, MD: Paul H Brookes Publishing Co.
21. EM Dykens C Kasari 1997 Maladaptive behavior in children with Prader-Willi Syndrome, Down Syndrome, and nonspecific mental retardation American Journal of Mental Retardation 102 228 237 10.1352/0895-8017(1997) 102<0228:MBICWP>2.0.CO;2
22. EM Dykens JF Leckman SB Cassidy 1996 Obsessions and compulsions in Prader-Willi Syndrome Journal of Child Psychology and Psychiatry and Allied Disciplines 37 1003 1014 10.1111/j.1469-7610.1996.tb01496.x
23. EM Dykens ACM Smith 1998 Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome Journal of Intellectual Disability Research 42 481 489 10.1046/j.1365-2788.1998.4260481.x
24. DW Evans JF Leckman A Carter JS Reznick D Henshaw RA King 1997 Ritual, habit and perfectionism: The prevalence and development of compulsive-like behaviour in normal young children Child Development 68 58 68
25. E Fazzi J Lanners S Danova O Ferrarri-Ginevra C Gheza A Luparia 1999 Stereotyped behaviours in blind children Brain and Development 21 522 528 10.1016/S0387-7604(99)00059-5
26. BM Finucane D Konar BH Guvler MB Kurtz M Weinstein CI Scott 1994 The spasmodic uper-body squeeze: A characteristic behavior in Smith-Magenis syndrome Developmental Medicine and Child Neurology 36 70 83
27. A Gedye 1992 Recognising obsessive-compulsive disorder in clients with developmental disabilities The Habilitative Mental Healthcare Newsletter 11 73 77
28. Goodman, W. K., Price, L. H., & Rasmussen, S. A. (1990). Children's Yale Brown Obsessive Compulsive Scale. New Haven Connecticut: Nfer Nelson.
29. S Greisberg D McKay 2003 Neuropsychology of obsessive-compulsive disorder: A review and treatment implications Clinical Psychology Review 23 95 117 10.1016/S0272-7358(02)00232-5
30. D Guess 1966 The influence of visual and ambulation restrictions on stereotyped behavior American Journal of Mental Deficiency 70 542 547
31. RJ Hagerman AW Jackson A Levitas B Rimland M Braden 1986 An analysis of autism in fifty males with the Fragile X syndrome American Journal of Medical Genetics 23 359 374 10.1002/ajmg.1320230128
32. RJ Hagerman ME Lampe 1999
33. RM Hodapp EM Dykens 2001 Strengthening behavioral research on genetic mental retardation syndromes American Journal of Mental Retardation 106 4 15 10.1352/0895-8017(2001)106<0004:SBROGM>2.0.CO;2
34. P Hyman C Oliver S Hall 2002 Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome American Journal of Mental Deficiency 107 146 154
35. L Kenworthy L Charnas 1995 Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe American Journal of Medical Genetics 59 283 290 10.1002/ajmg.1320590304
36. L Kenworthy T Park L Charnas 1993 Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe American Journal of Medical Genetics 46 297 303 10.1002/ajmg.1320460312
37. ID Krantz J McCallum C DeScipio M Kaur LA Gillis D Yaeger 2004 Cornelia de Lange syndrome is caused by mutations in NIBPL, the human homolog of Drosophila melanogaster Nipped-B Nature Genetics 6 631 635 10.1038/ng1364
38. A Kushlick R Blunden G Cox 1973 A method for rating behavior characteristics for use in large scale studies of mental handicap Psychological Medicine 3 466 478
39. DH Ledbetter JT Mascarello VM Riccardo VD Harper SD Aairhart RJ Strobel 1982 Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow up report of 40 cases American Journal of Human Genetics 34 278 285
40. MH Lewis JW Bodfish 1998 Repetitive behavior disorders in autism Mental Retardation and Developmental Disabilities 4 80 89 10.1002/(SICI)1098-2779(1998) 4:2<80::AID-MRDD4>3.0.CO;2-0
41. MH Lewis Y Tanimura LW Lee JW Bodfish 2007 Animal models of restricted repetitive behaviour in autism Behavioural Brain Research 176 66 74 10.1016/j.bbr.2006.08.023
42. RE Magenis MG Brown DA Lacy S Budden S LaFranchi 1987 Is Angelman syndrome an alternate result of del (15)(q11q13)? American Journal of Medical Genetics 28 829 838 10.1002/ajmg.1320280407
43. MM Mazzocco 2000 Advances in research on the Fragile X syndrome Mental Retardation and Developmental Disabilities Research Reviews 6 96 106 10.1002/1098-2779(2000)6:2<96::AID-MRDD3>3.0.CO;2-H
44. MM Mazzocco M Pulsifer A Fiumara M Cocuzza E Nigro G Incorpora 1998 Brief Report: Autistic behaviors among children with Fragile X or Rett syndrome: Implications for the classification of Pervasive Developmental Disorder Journal of Autism and Developmental Disorders 28 321 328 10.1023/A:1026012703449
45. K McClintock S Hall C Oliver 2003 Risk markers associated with challenging behaviours in people with intellectual disabilities: A meta-analytic study Journal of Intellectual Disability Research 47 405 416 10.1046/j.1365-2788.2003.00517.x
46. Moss, J., & Oliver, C. (2008). The Repetitive Behaviour Scale. Manual for administration and scorer interpretation. University of Birmingham.
47. A Musio A Selicorni M Focorelli C Gervasini D Milani S Russo P Vezzoni L Larizza 2006 X-Linked Cornelia de Lange syndrome owing to SMC1L1 mutations Nature Genetics 38 528 530 10.1038/ng1779
48. E Neibuhr 1978 The Cri-du-Chat syndrome Human Genetics 42 143 156 10.1007/BF00283634
49. RL Nussbaum SF Suchy 2001
50. JM Opitz 1985 Editorial comment: The Brachmann-de Lange syndrome American Journal of Medical Genetics 22 89 102 10.1002/ajmg.1320220110
51. J Palmer J Jenkins 1982 The 'Wessex' behaviour rating system for mentally handicapped people: Reliability study British Journal of Mental Subnormality 28 88 96
52. J Petty C Oliver 2005 Self-injurious behaviour in people with intellectual disability Current Opinion in Psychiatry 18 484 489
53. Rachman, S., & Hodgson, R. (1980). Obsessions and compulsions. Engelwood Cliffs, NJ: Prentice Hall.
54. J Rojhan MJ Tasse P Sturmey 1997 The stereotyped behaviour scale for adolescents and adults with mental retardation American Journal of Mental Retardation 102 137 146
55. Ross, E., Arron, K., & Oliver, C. (2008). The Mood Interest and Pleasure Questionnaire. Manual for administration and scoring. University of Birmingham.
56. MS Ross Collins K Cornish 2002 A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome Journal of Intellectual Disability Research 46 133 140 10.1046/j.1365-2788.2002.00361.x
57. K Sarimski 1997 Communication, social-emotional development and parenting stress in Cornelia de Lange Syndrome Journal of Intellectual Disability Research 41 70 75 10.1111/j.1365-2788.1997.tb00678.x
58. A Smith A Gropman 2001
59. HC Steinhausen A von Gontard HL Spohr BP Hauffa MB Eiholzer J Willms 2002 Behavioral phenotype in four mental retardation syndromes: Fetal alcohol syndrome, Prader-Willi syndrome, Fragile X syndrome and Tuberosis Sclerosis American Journal of Medical Genetics 111 381 387 10.1002/ajmg.10627
60. JA Summers DB Allison PS Lynch L Sandler 1995 Behaviour problems in Angelman syndrome Journal of Intellectual Disability Research 39 97 106
61. ET Tonkin T Wang S Lisgo MJ Bambshad T Strachan 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome Nature Genetics 6 636 641 10.1038/ng1363
62. M Turner 1997
63. B Vitiello S Spreat D Behar 1989 Obsessive-compulsive disorder in mentally retarded patients The Journal of Nervous and Mental Disease 177 232 236 10.1097/00005053-198904000-00007
64. NC Walz BA Benson 2002 Behavioral phenotypes in children with Down syndrome, Prader-Willi syndrome, or Angelman syndrome Journal of Developmental and Physical Disabilities 14 307 321 10.1023/A:1020326701399
65. M Wigren S Hansen 2003 Rituals and compulsivity in Prader-Willi syndrome: Profile and stability Journal of Intellectual Disability Research 47 428 438 10.1046/j.1365-2788.2003.00515.x
66. J Wilding K Cornish F Munir 2002 Further delineation of the executive deficit in males with Fragile X syndrome Neuropsychologia 40 1343 1349 10.1016/S0028-3932(01)00212-3