Skip to main content
SpringerLink
Log in

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

  • Original Paper
  • Published:
Journal of Autism and Developmental Disorders Aims and scope Submit manuscript

Abstract

High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • American Psychiatric Association. (2000). Quick reference to the diagnostic criteria from DSM-IV-TR. Amer Psychiatric Pub Incorporated.

  • Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., et al. (2007). Autistic spectrum disorders in velo-cardio facial syndrome (22q11. 2 deletion). Journal of Autism and Developmental Disorders, 37(9), 1776–1786.

    Article  PubMed  Google Scholar 

  • Barneveld, P. S., Pieterse, J., de Sonneville, L., van Rijn, S., Lahuis, B., van Engeland, H., et al. (2011). Overlap of autistic and schizotypal traits in adolescents with autism spectrum disorders. Schizophrenia Research, 126(1–3), 231–236. doi:10.1016/j.schres.2010.09.004.

    Article  PubMed  Google Scholar 

  • Bearden, C. E., Woodin, M. F., Wang, P. P., Moss, E., McDonald-McGinn, D., Zackai, E., et al. (2001). The neurocognitive phenotype of the 22q11. 2 deletion syndrome: Selective deficit in visual-spatial memory. Journal of Clinical and Experimental Neuropsychology, 23(4), 447–464.

    Article  PubMed  Google Scholar 

  • Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. The British Journal of Psychiatry, 175(5), 444–451.

    Article  PubMed  Google Scholar 

  • Campbell, L., McCabe, K., Leadbeater, K., Schall, U., Loughland, C., & Rich, D. (2010). Visual scanning of faces in 22q11.2 deletion syndrome: Attention to the mouth or the eyes? Psychiatry Research, 177(1–2), 211–215. doi:10.1016/j.psychres.2009.06.007.

    Article  PubMed  Google Scholar 

  • Campbell, L., Stevens, A. F., McCabe, K., Cruickshank, L., Morris, R. G., Murphy, D. G., et al. (2011). Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? Journal of Neurodevelopmental Disorders, 3(2), 152–161. doi:10.1007/s11689-011-9082-7.

    Google Scholar 

  • Charman, T., & Baird, G. (2002). Practitioner review: Diagnosis of autism spectrum disorder in 2- and 3-year-old children. Journal of Child Psychology and Psychiatry, 43(3), 289–305.

    Article  PubMed  Google Scholar 

  • Chow, E. W., Watson, M., Young, D. A., & Bassett, A. S. (2006). Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophrenia Research, 87(1), 270–278.

    Article  PubMed Central  PubMed  Google Scholar 

  • De Smedt, B., Devriendt, K., Fryns, J. P., Vogels, A., Gewillig, M., & Swillen, A. (2007). Intellectual abilities in a large sample of children with Velo–Cardio–facial syndrome: An update. Journal of Intellectual Disability Research, 51(9), 666–670.

    Article  PubMed  Google Scholar 

  • Dykens, E., Volkmar, F., & Glick, M. (1991). Though disorder in high-functioning autistic adults. Journal of Autism and Developmental Disorders, 21(3), 291–301.

    Article  PubMed  Google Scholar 

  • Eliez, S. (2007). Autism in children with 22q11. 2 deletion syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 46(4), 433–434.

    Article  PubMed  Google Scholar 

  • Esterberg, M. L., Ousley, O. Y., Cubells, J. F., & Walker, E. F. (2013). Prodromal and autistic symptoms in schizotypal personality disorder and 22q11.2 deletion syndrome. Journal of Abnormal Psychology, 122(1), 238–249. doi:10.1037/a0028373.

    Article  PubMed  Google Scholar 

  • Fine, S. E., Weissman, A., Gerdes, M., Pinto-Martin, J., Zackai, E. H., McDonald-McGinn, D. M., et al. (2005). Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11. 2 deletion syndrome. Journal of Autism and Developmental Disorders, 35(4), 461–470.

    Article  PubMed Central  PubMed  Google Scholar 

  • Glaser, B., Dukes, D., Pasca, C., Martinez, S., Chabloz, M., & Eliez, S. (2010). A socio-emotional remediation program for individuals with velo-cardio-facial syndrome. In VCFSEF 17th annual international scientific meeting, Salt Lake City, Utah, July 16–18, 2010.

  • Glaser, B., Lothe, A., Chabloz, M., Dukes, D., Pasca, C., Redoute, J., et al. (2012). Candidate socioemotional remediation program for individuals with intellectual disability. American Journal on Intellectual and Developmental Disabilities, 117(5), 368–383.

    Google Scholar 

  • Glaser, B., Schaer, M., Berney, S., Debbane, M., Vuilleumier, P., & Eliez, S. (2007). Structural changes to the fusiform gyrus: A cerebral marker for social impairments in 22q11.2 deletion syndrome? Schizophrenia Research, 96(1–3), 82–86. doi:10.1016/j.schres.2007.08.016.

    Article  PubMed  Google Scholar 

  • Harrison, P. L., & Oakland, T. (2003). Adaptive behavior assessment system, 2nd edn. New York: Wiley Online Library.

  • Ho, J. S., Radoeva, P. D., Jalbrzikowski, M., Chow, C., Hopkins, J., Tran, W. C., et al. (2012). Deficits in mental state attributions in individuals with 22q11.2 deletion syndrome (velo-cardio-facial syndrome). Autism Research, 5(6), 407–418. doi:10.1002/aur.1252.

    Google Scholar 

  • Jalbrzikowski, M., Carter, C., Senturk, D., Chow, C., Hopkins, J. M., Green, M. F., et al. (2012). Social cognition in 22q11.2 microdeletion syndrome: Relevance to psychosis? Schizophrenia Research, 142(1–3), 99–107. doi:10.1016/j.schres.2012.10.007.

    Google Scholar 

  • Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215.

    Article  PubMed  Google Scholar 

  • Jolin, E. M., Weller, R. A., & Weller, E. B. (2012). Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11. 2 deletion syndrome. Journal of Affective Disorders, 136(3), 222–228.

    Article  PubMed  Google Scholar 

  • Kates, W. R., Antshel, K. M., Fremont, W. P., Shprintzen, R. J., Strunge, L. A., Burnette, C. P., et al. (2007). Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism. American Journal of Medical Genetics A, 143A(22), 2642–2650. doi:10.1002/ajmg.a.32012.

    Article  Google Scholar 

  • Lord, C., Rutter, M., DiLavore, P. C., & Risi, S. (1999). Autism diagnostic observation schedule-WPS (ADOS-WPS). Los Angeles, CA: Western Psychological Services.

    Google Scholar 

  • McCabe, K. L., Melville, J. L., Rich, D., Strutt, P. A., Cooper, G., Loughland, C. M., et al. (2013). Divergent patterns of social cognition performance in autism and 22q11.2 deletion syndrome (22q11DS). Journal of Autism and Developmental Disorders. doi:10.1007/s10803-012-1742-2.

    Google Scholar 

  • Moss, E. M., Batshaw, M. L., Solot, C. B., Gerdes, M., McDonald-McGinn, D. M., Driscoll, D. A., et al. (1999). Psychoeducational profile of the 22q11. 2 microdeletion: A complex pattern. The Journal of pediatrics, 134(2), 193–198.

    Article  PubMed  Google Scholar 

  • Murray, D., Molloy, C. A., Akers, R., Bishop, S. L., & Manning-Courtney, P. (2010). Sensitivity and specificity of original and revised ADOS algorithms in a clinical setting. In Paper presented at the international meeting for autism research, Philadelphia, PA, May 20, 2010.

  • National Research Council. Committee on Educational Interventions for Children with Autism. (2001). Educating children with autism. National Academies Press.

  • Niklasson, L., Rasmussen, P., Óskarsdóttir, S., & Gillberg, C. (2001). Neuropsychiatric disorders in the 22q11 deletion syndrome. Genetics in Medicine, 3(1), 79–84.

    Article  PubMed  Google Scholar 

  • Niklasson, L., Rasmussen, P., Óskarsdóttir, S., & Gillberg, C. (2009). Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Research in Developmental Disabilities, 30(4), 763–773.

    Article  PubMed  Google Scholar 

  • Penn, D. L., Sanna, L. J., & Roberts, D. L. (2008). Social cognition in schizophrenia: An overview. Schizophrenia Bulletin, 34(3), 408–411. doi:10.1093/schbul/sbn014.

    Article  PubMed Central  PubMed  Google Scholar 

  • Reynolds, C. R., & Kamphaus, R. W. (2006). BASC 2: Behavior assessment system for children. UK: NCS Pearson.

  • Rumsey, J. M., Andreasen, N. C., & Rapoport, J. L. (1986). Thought, language, communication, and affective flattening in autistic adults. Archives of General Psychiatry, 43(8), 771–777.

    Article  PubMed  Google Scholar 

  • Rutter, M., Bailey, A., & Lord, C. (2003a). The social communication questionnaire: Manual. Los Angels, CA: Western Psychological Services.

  • Rutter, M., Le Couteur, A., & Lord, C. (2003b). ADI-R: Autism diagnostic interview–revised: Manual. Los Angels, CA: Western Psychological Services.

  • Simon, T. J. (2007). Cognitive characteristics of children with genetic syndromes. Child and adolescent psychiatric clinics of North America, 16(3), 599–616.

    Article  PubMed Central  PubMed  Google Scholar 

  • Simon, T. J. (2008). A new account of the neurocognitive foundations of impairments in space, time, and number processing in children with chromosome 22q11. 2 deletion syndrome. Developmental disabilities research reviews, 14(1), 52–58.

    Article  PubMed Central  PubMed  Google Scholar 

  • Volker, M. A., Lopata, C., Smerbeck, A. M., Knoll, V. A., Thomeer, M. L., Toomey, J. A., et al. (2010). BASC-2 PRS profiles for students with high-functioning autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(2), 188–199.

    Article  PubMed  Google Scholar 

  • Vorstman, J. A., Morcus, M. E., Duijff, S. N., Klaassen, P. W., Heineman-de Boer, J. A., Beemer, F. A., et al. (2006). The 22q11. 2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. Journal of the American Academy of Child & Adolescent Psychiatry, 45(9), 1104–1113.

    Google Scholar 

  • Wechsler, D. (2003). WISC-IV: Administration and scoring manual. New York: Psychological Corporation.

Download references

Acknowledgments

We thank the families who participated in our study and appreciate the efforts of Melissa Harada and Kristopher de Ga for their assistance. This study was funded by grants from the National Institutes of Health (R01042974), National Center for Advancing Translational Sciences (UL1 TR000002), Children’s Miracle Network, the Dempster Family Foundation, and the University Center for Excellence in Developmental Disabilities (90DD0670).

Conflict of interest

The authors declare that they have no conflict of interest related to this research study. Dr. Angkustsiri is involved in clinical trials in autism and fragile X syndrome for Roche, Curemark, Forest Pharmaceuticals, Seaside Therapeutics, and Novartis. Dr. Brahmbhatt receives grant funding from Shire. These authors have not taken any personal salary from any pharmaceutical company.

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA, USA

    Kathleen Angkustsiri

  2. MIND Institute, University of California at Davis, 2825 50th St., Sacramento, CA, 95817, USA

    Kathleen Angkustsiri, Beth Goodlin-Jones, Lesley Deprey, Khyati Brahmbhatt, Susan Harris & Tony J. Simon

  3. Department of Psychiatry and Behavioral Sciences, University of California at Davis, Sacramento, CA, USA

    Beth Goodlin-Jones, Khyati Brahmbhatt & Tony J. Simon

Authors
  1. Kathleen Angkustsiri
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Beth Goodlin-Jones
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Lesley Deprey
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Khyati Brahmbhatt
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Susan Harris
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Tony J. Simon
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kathleen Angkustsiri.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Angkustsiri, K., Goodlin-Jones, B., Deprey, L. et al. Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?. J Autism Dev Disord 44, 739–746 (2014). https://doi.org/10.1007/s10803-013-1920-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10803-013-1920-x

Keywords

Search

Navigation