Health and sleep problems in Cornelia de Lange Syndrome: A case control study

Journal of Intellectual Disability Research

Volumn 52, Issue 5, 2008, Pages 458-468

  Hall, S S ^a   Arron, K ^b   Sloneem, J ^b   Oliver, C ^b  

^a STANFORD UNIVERSITY   (United States)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Behavioural phenotype; Challenging behaviour; Cornelia de Lange syndrome; Health; Intellectual disability; Sleep

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; ARTICLE; AUTOMUTILATION; CASE CONTROL STUDY; CONTROLLED STUDY; DE LANGE SYNDROME; DISEASE SEVERITY; EAR DISEASE; EYE DISEASE; FEMALE; GASTROINTESTINAL DISEASE; HERNIA; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PHYSICAL DISEASE; PHYSICAL MOBILITY; PREVALENCE; SEX DIFFERENCE; SKIN DISEASE; SLEEP DISORDER; TOOTH DISEASE;

ADOLESCENT; CASE-CONTROL STUDIES; COMORBIDITY; DE LANGE SYNDROME; EAR DISEASES; EYE DISEASES; FEMALE; GASTROINTESTINAL DISEASES; HEALTH STATUS; HERNIA; HUMANS; MALE; MENTAL RETARDATION; PREVALENCE; QUESTIONNAIRES; SELF-INJURIOUS BEHAVIOR; SEVERITY OF ILLNESS INDEX; SKIN DISEASES; SLEEP DISORDERS; STOMATOGNATHIC DISEASES;

EID: 42449095521     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2008.01047.x     Document Type: Article

References (50)

1. Arron K., Oliver C., Hall S., Sloneem J., Forman D. & McClintock K. (2006) Effects of social interaction on pragmatic communication and self-injurious behavior in Cornelia de Lange Syndrome. American Journal on Mental Retardation 111, 184-92.
2. Beange H. P., McElduff A. & Baker W. (1995) Medical disorders of adults with mental retardation: A population study. American Journal on Mental Retardation 99, 595-604.
3. Beck B. (1976) Epidemiology of Cornelia de Lange's Syndrome. Acta Paediatrica Scandinavia 65, 631-8.
4. Beck B. & Fenger K. (1985) Mortality, pathological findings and causes of death in the de Lange Syndrome. Acta Paediatrica Scandinavia 74, 765-9.
5. Berg K., Arron K., Burbidge C., Moss J. & Oliver C. (2007) Carer reported contemporary health problems in people with severe learning disability and genetic syndromes. Journal of Policy and Practice in Intellectual Disabilities 4, 120-8.
6. Berney T. P., Ireland M. & Burn J. (1999) Behavioural phenotype of Cornelia de Lange Syndrome. Archives of Disease in Childhood 81, 333-6.
7. Brylewski J. & Wiggs L. (1998) A questionnaire survey of sleep and night-time behaviour in a community-based sample of adults with intellectual disability. Journal of Intellectual Disability Research 42, 154-62.
8. Brylewski J. & Wiggs L. (1999) Sleep problems and daytime challenging behaviour in a community-based sample of adults with intellectual disability. Journal of Intellectual Disability Research 43, 504-12.
9. Bryson Y., Sakati N., Nyhan W. & Fish C. (1971) Self-mutilative behavior in the Cornelia de Lange Syndrome. American Journal of Mental Deficiency 76, 319-24.
10. Chadwick O., Piroth N., Walker J., Bernard S. & Taylor E. (2000) Factors affecting the risk of behaviour problems in children with severe intellectual disability. Journal of Intellectual Disability Research 44, 108-23.
11. Collacott R. A., Cooper S. A., Branford D. & McGrother C. (1998) Epidemiology of self-injurious behaviour in adults with learning disabilities. British Journal of Psychiatry 428-32.
12. Collis L., Moss J., Jutley J., Cornish K. & Oliver C. (2008) Facial expression in Cornelia de Lange and Cri du Chat Syndromes. Journal of Intellectual Disability Research 52, 207-15.
13. Deardorff M. A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J. et al. (2007) Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange Syndrome with predominant mental retardation. American Journal of Human Genetics 80, 485-94.
14. Dossetor D. R., Couryer S. & Nicol A. R. (1991) Massage for very severe self-injurious-behavior in a girl with Cornelia-de-Lange-Syndrome. Developmental Medicine and Child Neurology 33, 636-40.
15. Gualtieri C. T. (1990) Neuropsychiatry and Behavioral Pharmacology. Springer Verlag, New York.
16. Hawley P. P., Jackson L. G. & Kurnit D. M. (1985) 64 patients with Brachmann-de-Lange syndrome -a survey. American Journal of Medical Genetics 20, 453-9.
17. Hyman P., Oliver C. & Hall S. (2002) Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange Syndrome. American Journal on Mental Retardation 107, 146-54.
18. Ireland M., Donnai D. & Burn J. (1993) Brachmann-de Lange Syndrome -delineation of the clinical phenotype. American Journal of Medical Genetics 47, 959-64.
19. Jackson L., Kline A. D., Barr M. A. & Koch S. (1993) de Lange-Syndrome -a clinical review of 310 individuals. American Journal of Medical Genetics 47, 940-6.
20. Jansen D. E. M. C., Krol B., Groothoff J. W. & Post D. (2004) People with intellectual disability and their health problems: A review of comparative studies. Journal of Intellectual Disability Research 48, 93-102.
21. Kennedy C. H. & Meyer K. A. (1996) Sleep deprivation, allergy symptoms, and negatively reinforced problem behavior. Journal of Applied Behavior Analysis 29, 133-5.
22. Kline A. D., Stanley C., Belevich J., Brodsky K., Barr M. & Jackson L. G. (1993) Developmental-data on individuals with the Brachmann-delange syndrome. American Journal of Medical Genetics 47, 1053-8.
23. Kline A. D., Krantz I., Goldstein A., Koo B. & Jackson L. G. (2001) Cornelia de Lange Syndrome: Evidence for a sensory neuropathy. American Journal of Human Genetics 69, 567.
24. Kousseff B. G., Newkirk P. & Root A. W. (1994) Brachmann-delange-syndrome -1994 update. archives of pediatrics and adolescent. Medicine 148, 749-55.
25. Krantz I. D., McCallum J., DeScipio C., Kaur M., Gillis L. A., Yaeger D. et al. (2004) Cornelia de Lange Syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics 36, 631-5.
26. Kuschlick A., Blunden R. & Cox G. (1973) A method of rating behaviour characteristics for use in large scale surveys of mental handicap. Psychological Medicine 3, 466-78.
27. Lennox N. G. & Kerr M. P. (1997) Primary health care and people with an intellectual disability: The evidence base. Journal of Intellectual Disability Research 41, 365-72.
28. Luzzani S., Macchini F., Valade A., Milani D. & Selicorni A. (2003) Gastroesophageal reflux and Cornelia de Lange Syndrome: Typical and atypical symptoms. American Journal of Medical Genetics Part A 119 (Suppl. 3), 283-7.
29. Morrell J. M. B. (1999) The Infant Sleep Questionnaire: A new tool to assess infant sleep problems for clinical and research purposes. Child Psychology and Psychiatry Review 4, 20-6.
30. Moss J., Oliver C., Hall S., Arron K., Sloneem J. & Petty J. (2005) The association between environmental events and self-injurious behaviour in Cornelia de Lange Syndrome. Journal of Intellectual Disability Research 49, 269-77.
31. Moss J., Kaur G., Jephcott L., Berg K., Cornish K. & Oliver C. The prevalence and phenomenology of autistic spectrum disorder in Cornelia de Lange and Cri du Chat syndromes. American Journal on Mental Retardation (in press)
32. Murphy G., Hall S., Oliver C. & Kissi-Debra R. (1999) Identification of early self-injurious behaviour in young children with intellectual disability. Journal of Intellectual Disability Research 43, 149-63.
33. Musio A., Selicorni A., Focarelli M. L., Gervasini C., Milani D., Russo S. et al. (2006) X-linked Cornelia de Lange Syndrome owing to SMC1L1 mutations. Nature Genetics 38, 528-30.
34. Nøttestad J. A. & Linaker O. M. (2001) Self-injurious behaviour before and after deinstitutionalisation. Journal of Intellectual Disability Research 45, 121-9.
35. Oliver C., Murphy G. & Corbett J. A. (1987) Self-injurious behaviour in people with mental handicap: A total population study. Journal of Mental Deficiency Research 31, 147-62.
36. Oliver C. (1993) Self-injurious behaviour: From response to strategy. In: Challenging Behaviour and Learning Disabilities: Research to Practice?: Implications of Research on the Challenging Behaviour of People with Learning Disabilities (ed.
37. > C. Kiernan), pp. 135-188. BILD Publications, Clevedon, Bristol.
38. Oliver C., McClintock K., Hall S., Smith M., Dagnan D. & Stenfert-Kroese B. (2003) Assessing the severity of challenging behaviour: Psychometric properties of the Challenging Behaviour Interview (CBI). Journal of Applied Research into Intellectual Disabilities 16, 53-61.
39. Oliver C., Arron K., Hall S. & Sloneem J. The behavioral phenotype of Cornelia de Lange Syndrome. British Journal of Psychiatry (in review)
40. Piazza C. C., Fisher W. & Kahng S. W. (1996) A descriptive study of sleep patterns in children with mental retardation and severe behavior disorders. Developmental Medicine and Child Neurology 38, 335-44.
41. Sarimski K. (1997) Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. Journal of Intellectual Disability Research 41, 70-5.
42. Sataloff R. T., Spiegal J. R., Hawkshaw M., Epstein J. M. & Jackson L. (1990) Cornelia de Lange Syndrome. Archives of Otolaryngol 116, 1044-6.
43. Sloneem J., Oliver C., Hall S. & Arron K. Self-injurious behavior in Cornelia de Lange syndrome: Prevalence, phenomenology and association with environmental events. American Journal on Mental Retardation (in review).
44. Sommer A. (1993) Occurrence of the Sandifer complex in the Brachmann de Lange Syndrome. American Journal of Medical Genetics 47, 1026-8.
45. Stores R., Stores G. & Buckley S. (1996) The pattern of sleep problems in children with Down's syndrome and other intellectual disabilities. Journal of Applied Research in Intellectual Disabilities 9, 145-58.
46. Sutherland G., Couch M. A. & Iacono T. (2002) Health issues for adults with developmental disability. Research in Developmental Disabilities 23, 422-45.
47. Symons F., Davis M. L. & Thompson T. (2000) Self-injurious behaviour and sleep disturbances in adults with developmental disabilities. Research in Developmental Disabilities 21, 115-23.
48. Tonkin E., Wang T. J., Lisgo S., Bamshad M. J. & Strachan T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteisn and fly Nipped-B, is mutated in Cornelia de Lange Syndrome. Nature Genetics 36, 636-41.
49. Tsukahara M., Okamoto N., Ohashi H., Kuwajima K., Kondo I., Sugie H. et al. (1998) Brachmann-de Lange Syndrome and congenital heart disease. American Journal of Medical Genetics 75, 441-2.
50. World Health Organization. (1992) International Statistical Classification of Diseases and Related Health Problems, 1989 Revision, World Health Organization, Geneva.