Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome

Journal of Neurodevelopmental Disorders

Volumn 7, Issue 1, 2015, Pages

  Crawford, Hayley ^a,b   Moss, Joanna ^b,c   McCleery, Joseph P ^d   Anderson, Giles M ^e   Oliver, Chris ^b  

^a Institute for Clean Growth and Future Mobility   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e OXFORD BROOKES UNIVERSITY   (United Kingdom)

Author keywords

Cornelia de Lange syndrome; Emotion preference; Eye gaze; Eye tracking; Rubinstein Taybi syndrome

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COGNITION; DE LANGE SYNDROME; EMOTION; FACE; FACIAL EXPRESSION; FEMALE; GAZE; HUMAN; MALE; MOUTH; PRESCHOOL CHILD; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SCHOOL CHILD; SOCIAL ASPECT; SOCIAL BEHAVIOR; YOUNG ADULT;

EID: 84938058441     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1186/s11689-015-9119-4     Document Type: Article

References (66)

1. Baron-Cohen S, Joliffe T, Mortimore C, Robertson M. Another advanced test of theory of mind: evidence from very high functioning adults with autism or asperger syndrome. J Child Psychol Psychiatry. 1997;38:813-22.
2. Baron-Cohen S, Wheelwright S, Hill J, Raste Y, Plumb I. The "reading the mind in the eyes" test revised version: a study with normal adults, and adults with asperger syndrome or high-functioning autism. J Child Psychol Psychiatry. 2001;42:241-51.
3. Riby DM, Hancock PJB. Viewing it differently: social scene perception in Williams syndrome and autism. Neuropsychologia. 2008;46:2855-60.
4. Riby DM, Doherty-Sneddon G, Bruce V. Exploring face perception in disorders of development: evidence from Williams syndrome and autism. J Neuropsychol. 2008;2:47-64.
5. Riby DM, Hancock PJB. Do faces capture the attention of individuals with Williams syndrome or autism? evidence from tracking eye movements. J Autism Dev Disord. 2009;39:421-31.
6. Kennedy DP, Adolphs R. Impaired fixation to eyes following amygdala damage arises from abnormal bottom-up attention. Neuropsychologia. 2010;48:3392-8.
7. Spezio ML, Huang PY, Castelli F, Adolphs R. Amygdala damage impairs eye contact during conversations with real people. J Neurosci. 2007;27:3994-7.
8. Dalton KM, Nacewicz BM, Johnstone T, Schaefer HS, Gernsbacher MA, Goldsmith HH, et al. Gaze fixation and the neural circuitry of face processing in autism. Nat Neurosci. 2005;8:519-26.
9. Sweeten TL, Posey DJ, Shekhar A, McDougle CJ. The amygdala and related structures in the pathophysiology of autism. Pharmacol Biochem Behav. 2002;71:449-55.
10. Cody Hazlett H, Pelphrey KA, Piven J. Structural and functional magnetic resonance imaging of autism. Int J Dev Neurosci. 2002;20:421-38.
11. Kirchner JC, Hatri A, Heekeren HR, Dziobeck I. Autistic symptomatology, face processing abilities, and eye fixation patterns. J Autism Dev Disord. 2011;41:158-67.
12. Speer LL, Cook AE, McMahon WM, Clark E. Face processing in children with autism effects of stimulus contents and type. Autism. 2007;11:265-77.
13. Guillon Q, Hadjikhani N, Badual S, Rogé B. Visual social attention in autism spectrum disorder: insights from eye-tracking studies. Neurosci Biobehav Rev. 2014;42:279-97.
14. Kliemann D, Dziobeck I, Hatri A, Steimke R, Heekeren HR. Atypical reflexive gaze patterns on emotional faces in autism spectrum disorders. J Neurosci. 2010;30:12281-7.
15. Bal E, Harden E, Lamb D, Van Hecke AV, Denver JW, Porges SW. Emotion recognition in children with autism spectrum disorders: relations to eye gaze and autonomic state. J Autism Dev Disord. 2010;40:358-70.
16. Adolphs R, Tranel D, Damasio H, Damasio A. Impaired recognition of emotion in facial expressions following bilateral damage to the human amygdala. Nature. 1994;372:669-72.
17. Izard C, Fine S, Schultz D, Mostow A, Ackerman B, Youngstrom E. Emotion knowledge as a predictor of social behaviour and academic competence in children at risk. Psychol Sci. 2001;12:18-23.
18. Sawyer AA, Williamson P, Young RL. Can gaze avoidance explain why individuals with Asperger's syndrome can't recognise emotions from facial expressions? J Autism Dev Disord. 2012;42:606-18.
19. Harms MB, Martin A, Wallace GL. Facial emotion recognition in autism spectrum disorders: a review of behavioral and neuroimaging studies. Neuropsychol Rev. 2010;20:290-322.
20. Tager-Flusberg H, Skwerer DP, Joseph RM. Model syndromes for investigating social cognitive and affective neuroscience: a comparison of autism and Williams syndrome. Soc Cogn Affect Neurosci. 2006;1:175-82.
21. Beck B. Epidemiology of Cornelia de Lange's syndrome. Acta Paediatr. 1976;65:631-8.
22. Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child. 1999;81:333-6.
23. Moss J, Oliver C, Berg K, Kaur G, Jephcott L, Cornish K. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard. 2008;113:278-91.
24. Moss J, Howlin P, Magiati I, Oliver C. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. J Child Psychol Psychiatry. 2012;53:883-91.
25. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75:610-23.
26. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Gen. 2004;36:631-5.
27. Miyake N, Visser R, Kinoshita A, Yoshiura K-I, Niikawa N, Kondoh T, et al. Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A. 2005;135:103-5.
28. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007;80:485-94.
29. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Gen. 2006;38:528-30.
30. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012;489:313-7.
31. Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, et al. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Genet Med. 2014;537:279-84.
32. Richards C, Moss J, O'Farrell L, Kaur G, Oliver C. Social anxiety in Cornelia de Lange syndrome. J Autism Dev Disord. 2009;39:1155-62.
33. Wieser M, Pauli P, Alpers GW, Muhlberger A. Is eye to eye contact really threatening and avoided in social anxiety? An eye-tracking and psychophysiology study. J Anxiety Disord. 2009;23.
34. Evans KC, Wright CI, Wedig MM, Gold AL, Pollack MH, Rauch SL. A functional MRI study of amygdala response to angry schematic faces in social anxiety disorder. Depress Anxiety. 2008;25:495-505.
35. Amarel DG. The primate amygdala and the neurobiology of social behaviour: implications for understanding social anxiety. Biol Psychiatry. 2002;51:11-7.
36. Cornish K, Turk J, Levitas A. Fragile X syndrome and autism: common developmental pathways? Curr Pediatr Rev. 2007;3:61-8.
37. Dalton KM, Holsen L, Abbeduto L, Davidson RJ. Brain function and gaze fixation during facial-emotion processing in fragile X and autism. Autism Res. 2008;1:231-9.
38. Holsen LM, Dalton KM, Johnstone T, Davidson RJ. Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome. Neuroimage. 2008;43:592-604.
39. Farzin F, Rivera SM, Hessl D. Brief report: visual processing of faces in individuals with fragile X syndrome: an eye tracking study. J Autism Dev Disord. 2009;39:946-52.
40. Farzin F, Scaggs F, Hervey C, Berry-Kravis E, Hessl D. Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011;41:1515-22.
41. Crawford H, Moss J, Anderson GM, Oliver C, McCleery JP. Implicit discrimination of basic facial expressions of positive/negative emotion in fragile X syndrome and autism spectrum disorder, American journal on intellectual and developmental disabilities. 2015.
42. Hessl D, Rivera S, Koldewyn K, Cordeiro L, Adamns J, Tassone F, et al. Amygdala dysfunction in men with the fragile x premutation. Brain. 2007;130:404-16.
43. Hennekam RC, Van Den Boogaard M-J, Sibbles BJ, Van Spijker HG. Rubinstein-taybi syndrome in the Netherlands. Am J Med Genet. 1990;37:17-29.
44. Petrif F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376:348-51.
45. Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002;39:415-21.
46. Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet. 2003;12:441-50.
47. Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006;14:981-5.
48. Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76:572-80.
49. Hennekam RC, Baselier AC, Beyaert E, Bos A. Psychological and speech studies in Rubinstein-Taybi syndrome. Am J Ment Retard. 1992;96:645-60.
50. Gotts EE, Liemohn WP. Behavioural characteristics of three children with the broad-thumb-hallux (Rubinstein-Taybi) syndrome. Biol Psychiatry. 1977;12:413-23.
51. Baxter G, Beer J. Rubinstein-Taybi syndrome. Phys Rep. 1992;70:451-6.
52. Stevens CA, Carey JC, Blackburn BL. Rubinstein-Taybi syndrome: a natural history study. Am J Med Genet. 1990;37:30-7.
53. Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, et al. Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. J Autism Dev Disord. 2009;39:1252-60.
54. Yagihashi T, Kenjiro K, Nobuhiko O, Mizuno S, Kenji K, Takao T, et al. Age-dependent change in behavioural feature in Rubinstein-Taybi syndrome. Congenit Anom. 2012;52:82-6.
55. Rutter M, Bailey A, Lord C. The social communication questionnaire. Los Angeles, CA: Western Psychological Services; 2003.
56. Sparrow SS, Cicchetti DV, Balla DA. Vineland-II adaptive behavior scales: survey forms manual. Circle Pines, MN: AGS Publishing; 2005.
57. Tottenham N, Tanaka JW, Leon AC, McCarry T, Nurse M, Hare TA, et al. The NimStim set of facial expressions: judgments from untrained research participants. Psychiatry Res. 2009;168:242-9.
58. Jones W, Carr K, Klin A. Absence of preferential looking to the eyes of approaching adults predicts level of social disability in 2-year-olds with autism. Arch Gen Psychiatry. 2008;65.
59. Campbell DJ, Shic F, Macari S, Chawarska K. Gaze response to dyadic bids at 2 years related to outcomes at 3 years in autism spectrum disorders: a subtyping analysis. J Autism Dev Disord. 2014;44:431-42.
60. Rice K, Moriuchi JM, Jones W, Klin A. Parsing heterogeneity in autism spectrum disorders: visual scanning of dynamic social scenes in school-aged children. J Am Acad Child Adolesc Psychiatry. 2012;51:238-43.
61. Klin A, Jones W, Schultz R, Volkmar F, Cohen D. Visual fixation patterns during viewing of naturalistic social situations as predictors of social competence in individuals with autism. Arch Gen Psychiatry. 2002;59:809-16.
62. Perry A, Flanagan HE, HGeiser JD, Freeman NL. Brief report: the Vineland adaptive behavior scales in young children with autism spectrum disorders at different cognitive levels. J Autism Dev Disord. 2009;39:1066-78.
63. Bölte S, Poustka F. The relation between general cognitive level and adaptive behaviour domains in individuals with autism with and without comorbid mental retardation. Child Psychiatry Hum Dev. 2002;33:165-72.
64. Desimone R, Duncan J. Neural mechanisms of selective visual attention. Annu Rev Neurosci. 1995;18:193-222.
65. Peeters G, Czapinski J. Positive-negative asymmetry in evaluations: the distinction between affective and informational negativity effects. Eur Rev Soc Psychol. 1990;1:33-60.
66. Öhman A, Mineka S. Fears, phobias, and preparedness: toward an evolved module of fear and fear learning. Psychol Rev. 2001;108:483.