Profiles and trajectories of impaired social cognition in people with Prader-Willi syndrome

Autoři: Elisabeth M. Dykens aff001;  Elizabeth Roof aff001;  Hailee Hunt-Hawkins aff001;  Christopher Daniell aff001;  Sarah Jurgensmeyer aff003
Působiště autorů: Department of Psychology and Human Development, Vanderbilt University, Nashville, TN, United States of America aff001;  Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Medical Center, Nashville, TN, United States of America aff002;  Vanderbilt Kennedy Center University Center of Excellence on Developmental Disabilities, Vanderbilt University Medical Center, Nashville, TN, United States of America aff003
Vyšlo v časopise: PLoS ONE 14(10)
Kategorie: Research Article
doi: 10.1371/journal.pone.0223162



People with Prader-Willi syndrome (PWS) have a distinctive behavioral phenotype that includes intellectual disability, compulsivity, inattention, inflexibility and insistence on sameness. Inflexibility and inattention are at odds with the cognitive flexibility and attention to social cues needed to accurately perceive the social world, and implicate problems in social cognition. This study assessed two social cognition domains in people with PWS; emotion recognition and social perception. We identified changes in social cognition over an approximate two-year time period (M = 2.23 years), relative strengths and weakness in social cognition, and correlates and predictors of social cognition.


Emotion recognition and social perception were examined at two time points in 94 individuals with PWS aged 5 to 62 years (M = 13.81, SD = 10.69). Tasks administered included: standardized IQ testing; parent-completed measures of inattention and inflexibility; standard emotion recognition photos (fear, sadness, anger, happy); and videotaped social perception vignettes depicting negative events with either sincere/benign or insincere/hostile interactions between peers.


An atypical trajectory of negative emotion recognition emerged, marked by similar levels of poor performances across age, and confusion between sad and anger that is typically resolved in early childhood. Recognition of sad and fear were positively correlated with IQ. Participants made gains over time detecting social cues, but not in forming correct conclusions about the intentions of others. Accurately judging sincere intentions remained a significant weakness over time. Relative to sincere intentions, participant’s performed significantly better in detecting negative social cues, and correctly judging trickery, deceit and lying. Age, IQ, inattention, and recognition of happy and sad accounted for 29% of variance in social perception.


Many people with PWS have deficits in recognizing sad, anger and fear, and accurately perceiving the sincere intentions of other people. The impact of these deficits on social behavior and relationships need to be better understood.

Klíčová slova:

Age groups – Attention – Disabilities – Emotions – Face recognition – Fear – Children – Social cognition


1. American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.

2. Cook F & Oliver C. A review of defining and measuring sociability in children with intellectual disabilities. Res Devl Disabil. 2012;32:11–24.

3. Green MF, Horan WP, Lee J. Social cognition in schizophrenia. Nat. Rev. Neurosci. 2015;16:620–631. doi: 10.1038/nrn4005 26373471

4. Happe F, Frith U. Annual Research Review: Towards a developmental neuroscience of atypical social cognition. J Child Psychol Psychiatry. 2014;55:553–577. doi: 10.1111/jcpp.12162 24963529

5. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981;304(6):325–329. doi: 10.1056/NEJM198102053040604 7442771

6. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342:281–285. doi: 10.1038/342281a0 2812027

7. Dykens EM & Roof E. Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. J Child Psychol Psychiatry. 2008; 49:1001–1008. doi: 10.1111/j.1469-7610.2008.01913.x 18665884

8. Milner KM, Craig EE, Thompson RJ, Veltman MWM, Thomas NS, Roberts S, et al. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatr. 2005; 46:1089–1096.

9. Dimitropoulos A, Ho A, Feldman B. Social responsiveness and competence in Prader-Willi syndrome: Direct comparison to autism spectrum disorder. J Autism Dev Disord. 2012; 43:103–113.

10. Rosner BA, Hodapp RM, Fidler DJ, Sagun JN, Dykens EM. Social competence in persons with Prader-Willi, Williams, and Down syndromes. J Appl Res Intellect Disabil. 2004;17:209–217.

11. Lord C, Rutter M, DiLavore PC, Risi S, Gotham K, & Bishop S. Autism diagnostic observation schedule, 2nd edition. 2012. Torrance, CA: Western Psychological Services.

12. Dykens EM, Roof E., Hunt-Hawkins H., Danker N, Lee EB, Shivers CM, et al. Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. J Neurodev Disord. 2017;9:18; doi: 10.1186/s11689-017-9200-2 28592997

13. Frith CD & Frith U. Social cognition in humans. Current Biology, 2007; 17, R724–R732. doi: 10.1016/j.cub.2007.05.068 17714666

14. Lo ST, Siemensma E, Collin P & Hokken-Koelega A. Impaired theory of mind and symptoms of autism spectrum disorder in children with Prader–Willi syndrome. Res Dev Disabil. 2013;34:2764–2773. doi: 10.1016/j.ridd.2013.05.024 23792373

15. Koenig K, Klin A, Schultz R. Deficits in social attribution ability in Prader–Willi Syndrome. J Autism Dev Dis. 2004;34(5):3–21.

16. Whittington J, Holland T. Recognition of emotion in facial expression by people with Prader–Willi syndrome. J Intellect Disabil Res. 2011;55: 75–84. doi: 10.1111/j.1365-2788.2010.01348.x 21121995

17. Green MF, Horan WP. Social Cognition in Schizophrenia. Curr Dir Psychol Sci. 2010;19(4):243–248

18. Dajani DR, Uddin LQ. Demystifying cognitive flexibility: Implications for clinical and developmental neuroscience. Trends Neurosci. 2015; 38:571–578. doi: 10.1016/j.tins.2015.07.003 26343956

19. Woodcock KA, Oliver C, & Humphreys GW. Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader–Willi syndrome chromosome 15 q11–q13 deletion and boys with Fragile X syndrome. Cogn Neuropsychol. 2009; 26:172–194. doi: 10.1080/02643290802685921 19221920

20. Wigren M & Hansen S. ADHD symptoms and insistence on sameness in Prader-Willi syndrome. J Intellect Disabil Res. 2005; 49:449–456. doi: 10.1111/j.1365-2788.2005.00690.x 15882394

21. Gross-Tsur V, Landau Y, Benarroch F, Wertman-Elad R, Shalev RS. Cognition, attention and behavior in prader-Wiilli syndrome. J Child Neuro. 2001;16:288–290

22. Olson KR, Dweck CS. A Blueprint for social cognitive development Perspect Psychol Sci. 2008;3(3):193–202. doi: 10.1111/j.1745-6924.2008.00074.x 26158935

23. Vetter NC, Leipold K, Kliegel M, Phillips LH, Altgassen M. Ongoing development of social cognition in adolescence. Child Neuropsychol. 2013;19,615–29. doi: 10.1080/09297049.2012.718324 22934659

24. Lawrence K, Campbell R and Skuse D (2015) Age, gender, and puberty influence the development of facial emotion recognition. Front. Psychol. 6:761. doi: 10.3389/fpsyg.2015.00761 26136697

25. Thomas LA, De Bellis MD, Graham R, Labar KS. Development of emotional facial recognition in late childhood and adolescence. Dev Sci; 2007; 10:547–558. doi: 10.1111/j.1467-7687.2007.00614.x 17683341

26. Hodapp RM. One road or many? Issues in the similar-sequence hypothesis. In Hodapp RM, Burack JA& Zigler E (editors). Issues in the developmental approach to mental retardation. NY: Cambridge University Press, 1990, pp 49–70.

27. Facon B. A cross-sectional test of the similar-trajectory hypothesis among adults with mental retardation. Res Dev Disabil; 2008. doi: 10.1016/j.ridd.2006.10.003 17113262

28. Lemerise E. A., & Arsenio W. F. (2000). An integrated model of emotion processes and cognition in social information processing. Child Dev. 2000; 71: 107–118. doi: 10.1111/1467-8624.00124 10836564

29. Ladd G. W., & Crick N. R. (1989). Probing the psychological environment: Children’s cognitions, perceptions, and feelings in the peer culture. In Maehr ML & Ames C. Editors, Advances in motivation and achievement: Motivation enhancing environments. Greenwich, CT: JAI Press; pp. 1–44.

30. Bhaumik DK, Roy A, Aryal S, Hur K, Duan N, Normand SLT, et al. Sample size determination for studies with repeated continuous outcomes. Psychiatric Annals. 2008;38:12.

31. Whitman BY, Thompson T. Neurodevelopmental and neuropsychological aspects of Prader-Willi syndrome. In: Butler MG, Lee PDK, Whitman BY, editors. Management of Prader-Willi syndrome. New York: Springer; 2006. pp. 245–272.

32. Dykens EM, Roof E & Hunt-Hawkins H. Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome. J Child Psychol Psychiatry. 2017;58(1):64–74. doi: 10.1111/jcpp.12601 27481444

33. Biehl M, Matsumoto D, Ekman P, Meant V, Heider K, Kudoh T, et al., Matsumoto and Ekman’s Japanese and Caucasian facial expressions of emotion (JACFEE): Reliability data and cross-national differences. J Nonverbal Behav. 1997; 21(1):3–21.

34. Leffert JS, Siperstein GN, Widaman KF. Social perception in children with intellectual disabilities: the interpretation of benign and hostile intentions. J Intellect Disabil Res. 2010;54(2):168–180. doi: 10.1111/j.1365-2788.2009.01240.x 20070474

35. Crick NR, Dodge KA. A review and reformulation of social information processing mechanisms in children’s social adjustment. Psychol Bull. (1994);115:74–101.

36. Achenbach T.M. (2001). Manual for the Child Behavior Checklist/4-18 and 2001 profile. Burlington, VT: University of Vermont, Department of Psychiatry.

37. Kaufman AS, Kaufman NL: Kaufman Brief Intelligence Test, 2nd ed. Circle Pines, MN: AGS Publishing: 2004.

38. Kaufman JC, Kaufman AS. Time for the changing of the guard: A farewell to short forms of intelligence tests. Journal of Psychoeducational Assessment. 2001; 19: 245.

39. Bodfish JW, Symons FJ, Parker DE, Lewis MH: Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord. 2000;30:237–243. doi: 10.1023/a:1005596502855 11055459

40. Lam KSL, Aman MG: The Repetitive Behavior Scale-Revised: independent validation in individuals with autism spectrum disorders. J Autism Dev Disord. 2007;37:855–866. doi: 10.1007/s10803-006-0213-z 17048092

41. Motta-Mena NV & Scherf KS. Pubertal development shapes perception of complex facial expressions. Dev Science. 2016; 1–10.

42. Widen SC. Children’s interpretation of facial expressions: the long path from valence-based to specific discrete categories. Emot Rev. 2013; 5:72–77.

43. Martínez-Castilla P, Burt M, Borgatti R & Gagliardi C. Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study, Child Neuropsychol. 2015; 21:668–692. doi: 10.1080/09297049.2014.945408 25103548

44. Halberstadt AG, Denham SA & Dunsmore JC. Affective social competence. Soc Dev. 2001;10:79–119.

45. Mather M, Sutherland MR. Arousal-biased competition in perception and memory. Perspect Psychol Sci. 2001; 6(2):114–133.

46. Key AP, Jones D, Dykens EM. Social and emotional processing in Prader-Willi syndrome: genetic subtype differences. J Neurodev Dis. 2013;5:7.

47. Vaish A, Grossmann T, Woodard A. Not all emotions are created equal: The negativity bias in social–emotional development. Psychol Bull. 2008; 134(3):383–403. doi: 10.1037/0033-2909.134.3.383 18444702

48. Skwerer DP, Verbalis A, Schofield C, Faja S, Tager-Flusberg H. Social-perceptual abilities in adolescents and adults with Williams syndrome. Cogn Neuropsychol. 2006;23(2):338–349. doi: 10.1080/02643290542000076 21049334

49. Mcpartland J, Dawson G, Webb SJ, Panagiotides H, Carver LJ. Event related brain potentials reveal anomalies in temporal processing of faces in autism spectrum disorder. J Child Psychol Psychiatry. 2004;45:1235–1245. doi: 10.1111/j.1469-7610.2004.00318.x 15335344

50. Savla GN, Vella L, Armstrong CC, Penn DL, Twamley EW. Deficits in domains of social cognition in schizophrenia: A meta-analysis of the empirical evidence. Schizophr Bull. 2013;39(5):979–992. doi: 10.1093/schbul/sbs080 22949733

51. Corbett BA, Swain DM, Coke C, Simon D, Newsom C, Houchins-Juarez N, et al. Improvements in social deficits in autism spectrum disorders using a theatre = based, peer-mediated intervention. Autism Res. (2014);7:4–16. doi: 10.1002/aur.1341 24150989

52. Zhao H, Swanson AR, Weitlauf AS, Warren ZE, Sarkar N. Hand-in-Hand: A communication-enhancement collaborative virtual reality system for promoting social interaction in children with autism spectrum disorder. IEEE Trans Hum Mach Syst. 2018;48 (2),136–148. doi: 10.1109/THMS.2018.2791562 30345182

53. Warren ZE, Zheng Z, Swanson AR, Bekele E, Zhang L, Crittendon JA, et al. Can Robotic Interaction Improve Joint Attention Skills? J Autism Dev Disord. 2015;45:3726–3734. doi: 10.1007/s10803-013-1918-4 24014194

54. Roberts DL, Velligan DI. Can social functioning in schizophrenia be improved through targeted social cognitive intervention? Rehabil Res Pract. 2012; Article ID 742106, doi: 10.1155/2012/742106 22745912

55. Yang YJD, Allen T, Abdullahi SM, Pelphrey KA, Volkmar FR, Chapman SB. Brain responses to biological motion predict treatment outcome in young adults with autism receiving virtual reality social cognition training: Preliminary findings. Behav Res Ther. 2017; 93: 55–66. doi: 10.1016/j.brat.2017.03.014 28384509

56. Minshawi NF, Wink LK, Shaffer R,. Plawecki MH, Posey DJ, Liu H, et al. A randomized, placebo-controlled trial of D-cycloserine for the enhancement of social skills training in autism spectrum disorders. Mol Autism. 2016;7:2/ doi: 10.1186/s13229-015-0062-8 26770664

57. Erdley LA, Rivera MS, Shepard EJ & Holleb LJ. Social cognitive models and skills. In Nangle al., editors. Practitioner’s Guide to Empirically Based Measures of Social Skill. Springer; 2010. pp.21–25.

58. Cataletto M, Angulo M, Hertz G & Whitman B. Prader-Willi syndrome: A primer for clinicians. Int J Pediatric Endocrinology. 2011;1:12

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