Facial expression of affect in children with Cornelia de Lange syndrome

Journal of Intellectual Disability Research

Volumn 52, Issue 3, 2008, Pages 207-215

  Collis, L ^a   Moss, J ^b   Jutley, J ^a   Cornish, K ^c   Oliver, Chris ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Affect; Cornelia de Lange syndrome; Cridu Chat syndrome; Facial expression; Pain

Indexed keywords

ADOLESCENT; AFFECT; ARTICLE; BLUNTED AFFECT; CAT CRY SYNDROME; CHILD; CHILD BEHAVIOR; CLINICAL ARTICLE; CLINICAL OBSERVATION; CONTROLLED STUDY; CRYING; DE LANGE SYNDROME; DISEASE ASSOCIATION; FACE MUSCLE; FACIAL EXPRESSION; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; INTERPERSONAL COMMUNICATION; MALE; MEDICAL RESEARCH; NOCICEPTION; NONVERBAL COMMUNICATION; PLAY; READING; SOCIAL INTERACTION; TEACHING; VIDEORECORDING;

ADOLESCENT; AFFECT; ANALYSIS OF VARIANCE; CHILD; CHILD, PRESCHOOL; CRI-DU-CHAT SYNDROME; DE LANGE SYNDROME; FACIAL EXPRESSION; FEMALE; HUMANS; MALE; MENTAL RETARDATION; OBSERVER VARIATION; TIME FACTORS;

EID: 39049173831     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2007.01004.x     Document Type: Article

References (33)

1. Arron K. (2003). The behavioural phenotype of Cornelia de Lange syndrome. Unpublished Master's Thesis. University of Birmingham, Birmingham.
2. Beck B. (1976) Epidemiology of Cornelia de Lange's syndrome. Acta Paediatrica Scandinavica 65, 631-8.
3. Beck B. & Fenger K. (1985) Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatrica Scandinavica 74, 765-9.
4. 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.
5. Berney T. P., Ireland M. & Burn J. (1999) Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease of Childhood 81, 333-6.
6. Bhuiyan Z. A., Klein M., Hammond P., van Haeringen A., Mannens M. M. A. M., Van Berckelaer-Onnes I. et al. (2006) Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience. Journal of Medical Genetics 43, 568-75.
7. Bieberich A. A. & Morgan S. B. (1998) Brief report: Affective expression in children with autism or down syndrome. Journal of Autism and Developmental Disorders 28, 333-8.
8. Cornish K. & Bramble D. (2002) Cri du Chat syndrome: genotype-phenotype correlations and recommendations for clinical management. Developmental Medicine and Child Neurology 44, 494-7.
9. Dawson G., Hill D., Spencer A., Galpert L. & Watson L. (1990) Affective exchanges between young autistic children and their mothers. Journal of Abnormal Child Psychology 18, 335-45.
10. 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.
11. Gillis L. A., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A. et al. (2004) NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. American Journal of Human Genetics 75, 610-23.
12. Goodban M. T. (1993) Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. American Journal of Medical Genetics 47, 1059-63.
13. Ireland M., Donnai D. & Burn J. (1993) Brachmann-de Lange syndrome. Delineation of the clinical phenotype. American Journal of Medical Genetics 47, 959-64.
14. 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.
15. Johnson H. G., Ekman P., Friesen W., Nyhan W. L. & Shear C. (1976) A behavioral phenotype in the de Lange syndrome. Pediatric Research 10, 843-50.
16. Joseph R. M. & Tager-Flusberg H. (1997) An investigation of attention and affect in children with autism and down syndrome. Journal of Autism and Developmental Disorders 27, 385-96.
17. Kanner L. (1943) Autistic disturbances of affective contact. Nervous Child 2, 217-50.
18. Kasari C., Sigman M., Mundy P. & Yirmiya N. (1990) Affective sharing in the context of joint attention interactions of normal, autistic, and mentally retarded children. Journal of Autism and Developmental Disorders 20, 87-100.
19. Kline A. D., Krantz I. D., Sommer A., Kliewer M., Jackson L. G., FitzPatrick D. R. et al. (2007) Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics 143A, 1287-96.
20. 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.
21. 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.
22. 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 119A, 283-7.
23. Moss J., Oliver C., Jephcott L., Berg K., Kaur G. & Cornish K. (2006) Prevalence of autistic spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Journal of Intellectual Disability Research 50, 788.
24. Oliver C., Moss J., Petty J., Arron K., Sloneem J. & Hall S. (2003). Self-injurious Behaviour in Cornelia de Lange Syndrome: A Guide for Parents and Carers. Trident Communications Ltd., Coventry.
25. Sarimski K. (1997) Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. Journal of Intellectual Disability Research 41, 70-5.
26. Sarimski K. (2002) Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. Journal of Communication Disorders 35, 483-500.
27. Selicorni A., Lalatta F., Livini E., Briscioli V., Piguzzi T., Bagozzi D. C. et al. (1993) Variability of the Brachmann-de Lange Syndrome. American Journal of Medical Genetics 47, 977-82.
28. Sloneem J. F. (2003). Self-injurious behaviour in Cornelia de Lange syndrome. Unpublished Doctoral Thesis. University of Birmingham, Birmingham.
29. Sparrow S. S., Balla D. A. & Cicchetti D. V. (1984) The Vineland Adaptive Behavior Scales: Interview Edition. American Guidance Service, Circle Pines, MN.
30. Stallard P., Williams L., Lenton S. & Velleman R. (2001) Pain in cognitively impaired, non-communicating children. Archives of Disease of Childhood 85, 460-2.
31. Stallard P., Williams L., Velleman R., Lenton S., McGrath P. J. & Taylor G. (2002) The development and evaluation of the pain indicator for communicatively impaired children (PICIC). Pain 98, 145-9.
32. Tonkin E. T., Wang T.-J., Lisgo S., Bamshad M. J. & Strachan T. (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 36, 636-41.
33. Yirmiya N., Kasari C., Sigman M. & Mundy P. (1989) Facial expressions of affect in autistic, mentally retarded and normal children. Journal of Child Psychology and Psychiatry 30, 725-35.