Experimental Brain Research

, Volume 232, Issue 7, pp 2381–2390 | Cite as

Cognitive abilities in siblings of children with autism spectrum disorders

  • Valentina Gizzonio
  • Pietro Avanzini
  • Maddalena Fabbri-Destro
  • Cristina Campi
  • Giacomo Rizzolatti
Research Article


The aim of the present study was to assess the cognitive profiles of children with autistic spectrum disorder and of their healthy siblings (Siblings). With the term cognitive profile, we indicate the relationship extant among the values of verbal and performance subtests of the Wechsler Intelligence Scale. The conducted statistical analyses indicated that, although siblings showed a normal intelligent quotient and did not differ in this aspect from typically developing group, their cognitive profile was amazingly similar to that of their relatives affected by autism. A k-means clustering analysis on the values of single subtests further confirmed this result, showing a clear separation between typically developing children on the one side, and autistics and their siblings on the other. We suggest that the common cognitive profile observed in autistic children and their siblings could represent a marker of liability to autism and, thus, a possible intermediate phenotype of this syndrome.


Autism Siblings Cognitive profile Endophenotype WISC 



VG, PA and CC were supported by ERC Grant Cogsystem to GR, contract no. 250013. We thank Dr. Fabio Sambataro and Sonia Boria for critical reading and for their remarks on previous versions of the manuscript. A special thanks to the staff of the Pediatric Neuropsychiatry of Empoli, of the rehabilitation center for autism “Centro Mai Soli” in Genova, of the Institute of Rehabilitation “Village Eugenio Litta,” Grottaferrata, Roma, and of the Autism Center of Parma for their invaluable collaboration in data collection. We also thank the staff and families of IV Circolo “Risorgimento - San Berardo” primary school in Teramo for providing the control group. Last but not least, thanks to all the children and their families for the availability and patience.


  1. Allen MH, Lincoln AJ, Kaufman AS (1991) Sequential and simultaneous processing abilities of high-functioning autistic and language-impaired children. J Autism Dev Disord 21:483–502PubMedCrossRefGoogle Scholar
  2. Almasy L, Blangero J (2001) Endophenotypes as quantitative risk factors for psychiatric disease: rationale and study design. Am J Med Genet 105:42–44PubMedCrossRefGoogle Scholar
  3. American Psychiatric Association (2000) Diagnostic and statistical manual of mental disorders, 4th edn., text revised. American Psychiatric Association, Washington, DCGoogle Scholar
  4. American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders, 5th edn. American Psychiatric Publishing, ArlingtonGoogle Scholar
  5. Anderberg MR (1973) Cluster analysis for applications. Academic Press, New YorkGoogle Scholar
  6. Ankenman K, Elgin J, Sullivan K, Vincent L, Bernier R (2014) Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: influence of age and gender. Am J Intellect Dev Disabil 119:84–99PubMedCrossRefGoogle Scholar
  7. Asarnow RF, Tanguay PE, Bott L, Freeman BJ (1987) Patterns of intellectual functioning in non-retarded autistic and schizophrenic children. J Child Psychol Psychiatry 28:273–280PubMedCrossRefGoogle Scholar
  8. August GJ, Stewart MA, Tsai L (1981) The incidence of cognitive disabilities in the siblings of autistic children. Br J Psychiatry 138:416–422PubMedCrossRefGoogle Scholar
  9. Buitelaar JK, van der Wees M, Swaab-Barneveld H, van der Gaag RJ (1999) Theory of mind and emotion-recognition functioning in autistic spectrum disorders and in psychiatric control and normal children. Dev Psychopathol 11:39–58PubMedCrossRefGoogle Scholar
  10. Caron MJ, Mottron L, Berthiaume C, Dawson M (2006) Cognitive mechanisms specificity and neural underpinnings of visuospatial peaks in autism. Brain 129:1789–1802PubMedCrossRefGoogle Scholar
  11. Castelli F (2005) Understanding emotions from standardized facial expressions in autism and normal development. Autism Int J Res Pract 9:428–449CrossRefGoogle Scholar
  12. Charman T, Jones CRG, Pickles A, Simonoff E, Baird G, Happé F (2011) Defining the cognitive phenotype of autism. Brain Res 1380:10–21PubMedCrossRefGoogle Scholar
  13. Constantino JN, Gruber CP (2005) Social Responsiveness Scale (SRS). Western Psychological Services, Los AngelesGoogle Scholar
  14. Constantino JN, Frazier TW et al (2013) Commentary: The observed association between autistic severity measured by the social responsiveness scale (SRS) and general psychopathology-a response to Hus et al (2013). J Child Psychol Psychiatry 54:695–697PubMedCrossRefGoogle Scholar
  15. Delorme R, Gousse V, Roy I, Trandafir A, Mathieu F, Mouren-Simeoni MC, Betancur C, Leboyer M (2007) Shared executive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder. Eur Psychiatry 22:32–38PubMedCentralPubMedCrossRefGoogle Scholar
  16. Dennis M, Lockyer L, Lazenby AL, Donnelly RE, Wilkinson M, Schoonheyt W (1999) Intelligence patterns among children with high-functioning autism phenylketonuria and childhood head injury. J Autism Dev Disord 29:5–17PubMedCrossRefGoogle Scholar
  17. Ehlers S, Nydén A, Gillberg C, Sandberg AD, Dahlgren SO, Hjelmquist E, Odén A (1997) Asperger syndrome autism and attention disorders: a comparative study of the cognitive profiles of 120 children. J Child Psychol Psychiatry 38:207–217PubMedCrossRefGoogle Scholar
  18. Folstein SE, Santangelo SL, Gilman SE, Piven J, Landa R, Lainhart J, Hein J, Wzorek M (1999) Predictors of cognitive test patterns in autism families. J Child Psychol Psychiatry 40:1117–1128PubMedCrossRefGoogle Scholar
  19. Fombonne E, Bolton P, Prior J, Jordan H, Rutter M (1997) A family study of autism: cognitive patterns and levels in parents and siblings. J Child Psychol Psychiatry 38:667–683PubMedCrossRefGoogle Scholar
  20. Freeman BJ, Ritvo ER, Needleman R, Yokota A (1985) The stability of cognitive and linguistic parameters in autism: a five-year prospective study. J Am Acad Child Adolesc Psychiatry 24:459–464CrossRefGoogle Scholar
  21. Freeman BJ, Ritvo ER, Mason-Brothers A, Pingree C, Yokota A, Jenson WR, McMahon WM, Petersen PB, Mo A, Schroth P (1989) Psychometric assessment of first-degree relatives of 62 autistic probands in Utah. Am J Psychiatry 146:361–364PubMedGoogle Scholar
  22. Girardot AM, De Martino S, Chatel C, Da Fonseca D, Rey V, Poinso F (2012) Cognitive profiles in pervasive developmental disorders. Encephale 38:488–495PubMedCrossRefGoogle Scholar
  23. Gottesman II, Gould TD (2003) The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 160:636–645PubMedCrossRefGoogle Scholar
  24. Happé FG (1994) Wechsler IQ profile and theory of mind in autism: a research note. J Child Psychol Psychiatry 35:1461–1471PubMedCrossRefGoogle Scholar
  25. Hughes C, Plumet MH, Leboyer M (1999) Towards a cognitive phenotype for autism: increased prevalence of executive dysfunction and superior spatial span amongst siblings of children with autism. J Child Psychol Psychiatry 40:705–718PubMedCrossRefGoogle Scholar
  26. Hus V, Bishop S, Gotham K, Huerta M, Lord C (2013a) Commentary: Advancing measurement of ASD severity and social competence: a reply to Constantino and Frazier 2013. J Child Psychol Psychiatry 54:698–700PubMedCrossRefGoogle Scholar
  27. Hus V, Bishop S, Gotham K, Huerta M, Lord C (2013b) Factors influencing scores on the social responsiveness scale. J Child Psychol Psychiatry 54:216–224PubMedCentralPubMedCrossRefGoogle Scholar
  28. Kaland N, Mortensen EL, Smith L (2007) Disembedding performance in children and adolescents with Asperger syndrome or high-functioning autism. Autism 11:81–92PubMedCrossRefGoogle Scholar
  29. Kawakubo Y, Kuwabara H, Watanabe K, Minowa M, Someya T, Minowa I, Kono T, Nishida H, Sugiyama T, Kato N, Kasai K (2009) Impaired prefrontal hemodynamic maturation in autism and unaffected siblings. PLoS ONE 4:e6881PubMedCentralPubMedCrossRefGoogle Scholar
  30. Kendler KS, Neale MC (2010) Endophenotype: a conceptual analysis. Mol Psychiatry 15:789–797PubMedCentralPubMedCrossRefGoogle Scholar
  31. Leboyer M, Plumet MH, Goldblum MC, Perez-Diaz F, Marchaland C (1995) Verbal versus visuospatial abilities in relatives of autistic females. Dev Neuropsychol 11:139–155CrossRefGoogle Scholar
  32. Lincoln AJ, Courchesne E, Kilman BA, Elmasian R, Allen M (1988) A study of intellectual abilities in high-functioning people with autism. J Autism Dev Disord 18:505–524PubMedCrossRefGoogle Scholar
  33. Lockyer L, Rutter M (1970) A five- to fifteen-year follow-up study of infantile psychosis. IV. Patterns of cognitive ability. Br J Soc Clin Psychol 9:152–163PubMedCrossRefGoogle Scholar
  34. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E (1989) Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord 19:185–212PubMedCrossRefGoogle Scholar
  35. Losh M, Adolphs R, Poe MD, Couture S, Penn D, Baranek GT, Piven J (2009) Neuropsychological profile of autism and the broad autism phenotype. Arch Gen Psychiatry 66:518–526PubMedCentralPubMedCrossRefGoogle Scholar
  36. Mayes SD, Calhoun SL (2003) Analysis of WISC-III, Stanford-Binet: IV and academic achievement test scores in children with autism. J Autism Dev Disord 33:329–341PubMedCrossRefGoogle Scholar
  37. Minton J, Campbell M, Green WH, Jennings S, Samit C (1982) Cognitive assessment of siblings of autistic children. J Am Acad Child Adolesc Psychiatry 21:256–261CrossRefGoogle Scholar
  38. Narita T, Koga Y (1987) Neuropsychological assessment of childhood autism. Adv Biol Psychiatry 16:156–170Google Scholar
  39. Neves MD, Tremeau F, Nicolato R, Lauar H, Romano-Silva MA, Correa H (2011) Facial emotion recognition deficits in relatives of children with autism are not associated with 5HTTLPR. Revista brasileira de psiquiatria 33:261–267CrossRefGoogle Scholar
  40. Oerlemans AM, van der Meer JMJ, van Steijn DJ, de Ruiter SW, de Bruijn YGE, de Sonneville LMJ, Buitelaar JK, Rommelse NNJ (2013) Recognition of facial emotion and affective prosody in children with ASD (+ADHD) and their unaffected siblings. Eur Child Adolesc Psychiatry. doi: 10.1007/s00787-013-0446-2 Google Scholar
  41. Ohta M (1987) Cognitive disorders of infantile autism: a study employing the WISC spatial relationship conceptualization and gesture imitations. J Autism Dev Disord 17:45–62PubMedCrossRefGoogle Scholar
  42. Orsini L, Picone S (2006) Weschsler Intelligence Scale for Children—III Edizione Italiana Giunti OS, FirenzeGoogle Scholar
  43. Ozonoff S, Pennington BF, Rogers SJ (1991) Executive function deficits in high-functioning autistic individuals: relationship to theory of mind. J Child Psychol Psychiatry 32:1081–1105PubMedCrossRefGoogle Scholar
  44. Ozonoff S, Rogers SJ, Farnham JM, Pennington BF (1993) Can standard measures identify subclinical markers of autism? J Autism Dev Disord 23:429–441PubMedCrossRefGoogle Scholar
  45. Pilowsky T, Yirmiya N, Gross-Tsur V, Shalev RS (2007) Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay and siblings of children with mental retardation of unknown of genetic etiology. J Autism Dev Disord 37:537–552PubMedCrossRefGoogle Scholar
  46. Piven J, Palmer P, Jacobi D, Childress D, Arndt S (1997) Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry 154:185–190PubMedGoogle Scholar
  47. Ropar D, Mitchell P (2001) Susceptibility to illusions and performance on visuospatial tasks in individuals with autism. J Child Psychol Psychiatry 42:539–549PubMedCrossRefGoogle Scholar
  48. Schneider SG, Asarnow RF (1987) A comparison of cognitive/neuropsychological impairments of non retarded autistic and schizophrenic children. J Abnorm Child Psychol 15:29–45PubMedCrossRefGoogle Scholar
  49. Shah A, Frith U (1993) Why do autistic individuals show superior performance on the block design task? J Child Psychol Psychiatry 34:1351–1364PubMedCrossRefGoogle Scholar
  50. Siegel DJ, Minshew NJ, Goldstein G (1996) Wechsler IQ profiles in diagnosis of high-functioning autism. J Autism Dev Disord 26:389–406PubMedCrossRefGoogle Scholar
  51. Szatmari P, Tuff L, Finlayson MA, Bartolucci G (1990) Asperger’s syndrome and autism: neurocognitive aspects. J Am Acad Child Adolesc Psychiatry 29:130–136PubMedCrossRefGoogle Scholar
  52. Szatmari P, Jones MB, Tuff L, Bartolucci G, Fisman F, Mahoney W (1993) Lack of cognitive impairment in first-degree relatives of children with pervasive developmental disorder. J Am Acad Child Adolesc Psychiatry 32:1264–1273PubMedCrossRefGoogle Scholar
  53. Venter A, Lord C, Schopler E (1992) A follow-up study of high-functioning autistic children. J Child Psychol Psychiatry 33:489–507PubMedCrossRefGoogle Scholar
  54. Waldman ID (2005) Statistical approaches to complex phenotypes: evaluating neuropsychological endophenotypes for attention-deficit/hyperactivity disorder. Biol Psychiatry 57:1347–1356PubMedCrossRefGoogle Scholar
  55. Wechsler D (1974) Manual for the Wechsler Intelligence Scale for Children—revised. Psychological Corporation, New YorkGoogle Scholar
  56. Wechsler D (1991) Wechsler Intelligence Scale for Children—third edition manual. Psychological Corporation, New YorkGoogle Scholar
  57. Wechsler D (2003) WISC-IV technical and interpretative manual. Psychological Corporation, San AntonioGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Valentina Gizzonio
    • 1
  • Pietro Avanzini
    • 1
  • Maddalena Fabbri-Destro
    • 2
  • Cristina Campi
    • 1
  • Giacomo Rizzolatti
    • 1
    • 2
  1. 1.Dipartimento di Neuroscienze, Sezione di FisiologiaUniversità di ParmaParmaItaly
  2. 2.Brain Center for Social and Motor CognitionItalian Institute of TechnologyParmaItaly

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