Skip to main content
SpringerLink
Log in

Mother–Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

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

Abstract

Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child’s expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with developmental delay in a conflict interaction. During the same interaction, dyads of 22q11.2DS children were characterized by higher levels of maternal intrusiveness, lower levels of child’s engagement and reduced reciprocity compared to dyads of typically developing children. Finally, 22q11.2DS children with the COMT Met allele showed less adaptive behaviors than children with the Val allele. Dyadic behaviors partially coincided with the distinct social phenotypes in these syndromes and are potential behavioral markers of psychopathological trajectory.

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

Fig. 1

Similar content being viewed by others

References

  • Angkustsiri, K., Goodlin-Jones, B., Deprey, L., Brahmbhatt, K., Harris, S., & Simon, T. J. (2014). Social impairments in chromosome 22q11. 2 deletion syndrome (22q11. 2DS): Autism spectrum disorder or a different endophenotype? Journal of Autism and Developmental Disorders, 44, 739–746.

    Article  PubMed Central  PubMed  Google Scholar 

  • Antshel, K. M., Stallone, K., Abdulsabur, N., Shprintzen, R., Roizen, N., Higgins, A. M., & Kates, W. R. (2007). Temperament in velocardiofacial syndrome. Journal of Intellectual Disability Research, 51, 218–227.

    Article  PubMed  Google Scholar 

  • Bearden, C. E., Jawad, A. F., Lynch, D. R., Monterossso, J. R., Sokol, S., McDonald-McGinn, D. M., et al. (2005). Effects of COMT genotype on behavioral symptomatology in the 22q11. 2 Deletion Syndrome. Child Neuropsychology, 11(1), 109–117.

    Article  PubMed Central  PubMed  Google Scholar 

  • Bellugi, U., Adolphs, R., Cassady, C., & Chiles, M. (1999). Towards the neural basis for hypersociability in a genetic syndrome. NeuroReport, 10, 1653–1657.

    Article  PubMed  Google Scholar 

  • Debbané, M., Van der Linden, M., Glaser, B., & Eliez, S. (2010). Monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome. The British Journal of Clinical Psychology/The British Psychological Society, 49, 373–386.

    Article  PubMed  Google Scholar 

  • Delaherche, E., Chetouani, M., Mahdhaoui, A., Saint-Georges, C., Viaux, S., & Cohen, D. (2012). Interpersonal synchrony: A survey of evaluation methods across disciplines. IEEE Transactions on Affective Computing, 3(3), 349–365.

    Article  Google Scholar 

  • Doyle, T. F., Bellugi, U., Korenberg, J. R., & Graham, J. (2004). “Everybody in the world is my friend” hypersociability in young children with Williams syndrome. American Journal of Medical Genetics. Part A, 124A, 263–273.

    Article  PubMed  Google Scholar 

  • Drew, L. J., Crabtree, G. W., Markx, S., Stark, K. L., Chaverneff, F., Xu, B., et al. (2011). The 22q11. 2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders. International Journal of Developmental Neuroscience, 29, 259–281.

    Article  PubMed Central  PubMed  Google Scholar 

  • Dykens, E. M., & Rosner, B. A. (1999). Refining behavioral phenotypes: Personality-motivation in Williams and Prader–Willi syndromes. American Journal of Mental Retardation, 104, 158–169.

    Article  PubMed  Google Scholar 

  • Feldman, R. (1998). Coding interactive behavior manual. Unpublished Manual; Bar-Ilan University, Israel.

  • Feldman, R. (2007). Parent-infant synchrony: Biological foundations and developmental outcomes. Current Directions in Psychological Science, 16, 340–345.

    Article  Google Scholar 

  • Feldman, R. (2010). The relational basis of adolescent adjustment: Trajectories of mother–child interactive behaviors from infancy to adolescence shape adolescents’ adaptation. Attachment & Human Development, 12(1–2), 173–192.

    Article  Google Scholar 

  • Feldman, R., Bamberger, E., & Kanat-Maymon, Y. (2013). Parent-specific reciprocity from infancy to adolescence shapes children’s social competence and dialogical skills. Attachment & Human Development, 15(4), 407–423.

    Article  Google Scholar 

  • Feldman, R., & Eidelman, A. I. (2009). Biological and environmental initial conditions shape the trajectories of cognitive and social-emotional development across the first years of life. Developmental Science, 12(1), 194–200.

    Article  PubMed  Google Scholar 

  • Feldman, R., Golan, O., Hirschler-Guttenberg, Y., Ostfeld-Etzion, S., & Zagoory-Sharon, O. (2014a). Parent–child interaction and oxytocin production in pre-schoolers with autism spectrum disorder. The British Journal of Psychiatry, 205(2), 107–112.

    Article  PubMed  Google Scholar 

  • Feldman, R., & Masalha, S. (2010). Parent–child and triadic antecedents of children’s social competence: Cultural specificity, shared process. Developmental Psychology, 46(2), 455–467.

    Article  PubMed  Google Scholar 

  • Feldman, R., Rosenthal, Z., & Eidelman, A. I. (2014b). Maternal-preterm skin-to-skin contact enhances child physiologic organization and cognitive control across the first 10 years of life. Biological Psychiatry, 75(1), 56–64.

    Article  PubMed  Google Scholar 

  • Golding-Kushner, K. J., Weller, G., & Shprintzen, R. J. (1985). Velo-cardio-facial syndrome: Language and psychological profiles. Journal of Craniofacial Genetics and Developmental Biology, 5, 259–266.

    PubMed  Google Scholar 

  • Gothelf, D. (2007). Velocardiofacial syndrome. Child and Adolescent Psychiatric Clinics of North America, 16(3), 677–693.

    Article  PubMed  Google Scholar 

  • Gothelf, D., Eliez, S., Thompson, T., Hinard, C., Penniman, L., Feinstein, C., et al. (2005). COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11. 2 deletion syndrome. Nature Neuroscience, 8(11), 1500–1502.

    Article  PubMed  Google Scholar 

  • Gothelf, D., Feinstein, C., Thompson, T., Gur, E., Penniman, L., Van Stone, E., et al. (2007). Risk factors for the emergence of psychotic disorders in adolescents with 22q11. 2 deletion syndrome. American Journal of Psychiatry, 164(4), 663–669.

    Article  PubMed  Google Scholar 

  • Gothelf, D., Law, A. J., Frisch, A., Chen, J., Zarchi, O., Michaelovsky, E., et al. (2014). Biological effects of COMT haplotypes and psychosis risk in 22q11. 2 deletion syndrome. Biological Psychiatry, 75(5), 406–413.

    Article  PubMed Central  PubMed  Google Scholar 

  • Gothelf, D., Schaer, M., & Eliez, S. (2008). Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Developmental Disabilities Research Reviews, 14(1), 59–68.

    Article  PubMed  Google Scholar 

  • Green, T., Gothelf, D., Glaser, B., Debbane, M., Frisch, A., Kotler, M., et al. (2009). Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 48, 1060–1068.

    Article  PubMed  Google Scholar 

  • Hirschler-Guttenberg, Y., Golan, O., Ostfeld-Etzion, S., & Feldman, R. (2014). Mothering, fathering, and the regulation of negative and positive emotions in high-functioning preschoolers with autism spectrum disorder. Journal of Child Psychology and Psychiatry. doi:10.1111/jcpp.12311.

    Google Scholar 

  • 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, 407–418.

    Article  PubMed Central  PubMed  Google Scholar 

  • Järvinen-Pasley, A., Bellugi, U., Reilly, J., Mills, D. L., Galaburda, A., Reiss, A. L., et al. (2008). Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior. Development and Psychopathology, 20, 1–35.

    Article  PubMed Central  PubMed  Google Scholar 

  • Jones, W., Bellugi, U., Lai, Z., Chiles, M., Reilly, J., Lincoln, A., & Adolphs, R. (2000). Hypersociability in Williams syndrome. Journal of Cognitive Neuroscience, 12, 30–46.

    Article  PubMed  Google Scholar 

  • Karayiorgou, M., Simon, T. J., & Gogos, J. A. (2010). 22q11. 2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia. Nature Reviews Neuroscience, 11(6), 402–416.

    Article  PubMed Central  PubMed  Google Scholar 

  • Karmiloff-Smith, A., Broadbent, H., Farran, E. K., Longhi, E., D’Souza, D., Metcalfe, K., et al. (2012). Social cognition in Williams syndrome: Genotype/phenotype insights from partial deletion patients. Frontiers in Psychology, 3, 168.

    Article  PubMed Central  PubMed  Google Scholar 

  • Keren, M., Feldman, R., & Tyano, S. (2001). Diagnoses and interactive patterns of infants referred to a community-based infant mental health clinic. Journal of the American Academy of Child and Adolescent Psychiatry, 40, 27–35.

    Article  PubMed  Google Scholar 

  • Klein-Tasman, B. P., & Mervis, C. B. (2003). Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Developmental Neuropsychology, 23, 269–290.

    Article  PubMed  Google Scholar 

  • Lachman, H. M., Papolos, D. F., Saito, T., Yu, Y. M., Szumlanski, C. L., & Weinshilboum, R. M. (1996). Human catechol-O-methyltransferase pharmacogenetics: Description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics, 6, 243–250.

    Article  PubMed  Google Scholar 

  • Leclère, C., Viaux, S., Avril, M., Achard, C., Chetouani, M., Missonnier, S., & Cohen, D. (2014). Why synchrony matters during mother–child interactions: A systematic review. PLoS ONE, 9(12), e113571.

    Article  PubMed Central  PubMed  Google Scholar 

  • Leyfer, O. T., Folstein, S. E., Bacalman, S., Davis, N. O., Dinh, E., Morgan, J., et al. (2006). Comorbid psychiatric disorders in children with autism: Interview development and rates of disorders. Journal of Autism and Developmental Disorders, 36(7), 849–861.

    Article  PubMed  Google Scholar 

  • Losh, M., Bellugi, U., & Anderson, J. D. (2001). Narrative as a social engagement tool: The excessive use of evaluation in narratives from children with Williams syndrome. Narrative Inquiry, 10(2), 265–290.

    Article  Google Scholar 

  • Ly, T. M., & Hodapp, R. M. (2005). Children with Prader–Willi syndrome vs. Williams syndrome: Indirect effects on parents during a jigsaw puzzle task. Journal of Intellectual Disability Research, 49, 929–939.

    Article  PubMed  Google Scholar 

  • Martens, M. A., Wilson, S. J., & Reutens, D. C. (2008). Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry, 49(6), 576–608.

    Article  PubMed  Google Scholar 

  • Mervis, C. B. (2003). Williams syndrome: 15 years of psychological research. Developmental Neuropsychology, 23(1–2), 1–12.

    Article  PubMed  Google Scholar 

  • Meyer-Lindenberg, A., Mervis, C. B., & Berman, K. F. (2006). Neural mechanisms in Williams syndrome: A unique window to genetic influences on cognition and behaviour. Nature Reviews Neuroscience, 7(5), 380–393.

    Article  PubMed  Google Scholar 

  • Monks, S., Niarchou, M., Davies, A. R., Walters, J. T., Williams, N., Owen, M. J., et al. (2014). Further evidence for high rates of schizophrenia in 22q11. 2 deletion syndrome. Schizophrenia Research, 153(1), 231–236.

    Article  PubMed  Google Scholar 

  • Morrow, B., Goldberg, R., Carlson, C., Gupta, R. D., Sirotkin, H., Collins, J., et al. (1995). Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. American Journal of Human Genetics, 56(6), 1391.

    PubMed Central  PubMed  Google Scholar 

  • Pearlman-Avnion, S., & Eviatar, Z. (2001). Narrative analysis in developmental social and linguistic pathologies: Dissociation between emotional and informational language use. Brain and Cognition, 48(2–3), 494–499.

    Google Scholar 

  • Pober, B. R. (2010). Williams–Beuren syndrome. New England Journal of Medicine, 362(3), 239–252.

    Article  PubMed  Google Scholar 

  • Reilly, J., Losh, M., Bellugi, U., & Wulfeck, B. (2004). “Frog, where are you?” Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome. Brain and Language, 88, 229–247.

    Article  PubMed  Google Scholar 

  • Rescorla, L. A. (2005). Assessment of young children using the Achenbach System of Empirically Based Assessment (ASEBA). Mental Retardation and Developmental Disabilities Research Reviews, 11(3), 226–237.

    Article  PubMed  Google Scholar 

  • Robertson, S. B., & Ellis Weismer, S. (1999). Effects of treatment on linguistic and social skills in toddlers with delayed language development. Journal of Speech, Language, and Hearing Research, 42(5), 1234–1248.

    Article  PubMed  Google Scholar 

  • Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W., Fung, W. L. A., van den Bree, M. B., et al. (2014). Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: Results from the international consortium on brain and behavior in 22q11. 2 deletion syndrome. American Journal of Psychiatry, 171(6), 627–639.

    Article  PubMed Central  PubMed  Google Scholar 

  • Schneider, M., Van der Linden, M., Glaser, B., Rizzi, E., Dahoun, S. P., Hinard, C., et al. (2012). Preliminary structure and predictive value of attenuated negative symptoms in 22q11. 2 deletion syndrome. Psychiatry Research, 196(2), 277–284.

    Article  PubMed  Google Scholar 

  • Schonherz, Y., Davidov, M., Knafo, A., Zilkha, H., Shoval, G., Zalsman, G., et al. (2014). Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome. Journal of Neurodevelopmental Disorders, 6(1), 3.

    Article  PubMed Central  PubMed  Google Scholar 

  • Set, E., Saez, I., Zhu, L., Houser, D. E., Myung, N., Zhong, S., et al. (2014). Dissociable contribution of prefrontal and striatal dopaminergic genes to learning in economic games. Proceedings of the National Academy of Sciences, 111(26), 9615–9620.

    Article  Google Scholar 

  • Shprintzen, R. J. (2008). Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews, 14(1), 3–10.

    Article  PubMed Central  PubMed  Google Scholar 

  • Smith, L. E., Greenberg, J. S., Seltzer, M. M., & Hong, J. (2008). Symptoms and behavior problems of adolescents and adults with autism: Effects of mother–child relationship quality, warmth, and praise. American Journal of Mental Retardation, 113(5), 387–402.

    Article  PubMed Central  PubMed  Google Scholar 

  • Sparrow, S. S., & Cicchetti, D. V. (1985). Diagnostic uses of the vineland adaptive behavior scales. Journal of Pediatric Psychology, 10, 215–225.

    Article  PubMed  Google Scholar 

  • Spiker, D., Boyce, G. C., & Boyce, L. K. (2002). Parent–child interactions when young children have disabilities. International Review of Research in Mental Retardation, 25, 35–70.

    Article  Google Scholar 

  • Stoddard, J., Takarae, Y., & Simon, T. J. (2012). A second look: No effect of the COMT Val158Met polymorphism on conflict adaptation in youth with chromosome 22q11. 2 deletion syndrome. Schizophrenia Research, 135(1), 202–203.

    Article  PubMed Central  PubMed  Google Scholar 

  • Sullivan, K., & Tager-Flusberg, H. (1999). Second-order belief attribution in Williams syndrome: Intact or impaired? American Journal of Mental Retardation, 104(6), 523–532.

    Article  PubMed Central  PubMed  Google Scholar 

  • Swillen, A., Devriendt, K., Legius, E., Prinzie, P., Vogels, A., Ghesquière, P., et al. (1999). The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genetic Counseling (Geneva, Switzerland), 10, 79–88.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Yale Child Study Center, School of Medicine, New Haven, CT, 06519, USA

    Omri Weisman & Ruth Feldman

  2. Department of Psychology and Gonda Brain Research Center, Bar-Ilan University, 52900, Ramat Gan, Israel

    Ruth Feldman, Ronny Geva & Gil Diesendruck

  3. The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, 52621, Tel Hashomer, Israel

    Merav Burg-Malki & Doron Gothelf

  4. Sackler Faculty of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel

    Merav Burg-Malki, Miri Keren & Doron Gothelf

  5. Child and Adolescent Division, Geha Mental Health Center, Petah Tikva, Israel

    Miri Keren

Authors
  1. Omri Weisman
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ruth Feldman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Merav Burg-Malki
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Miri Keren
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ronny Geva
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Gil Diesendruck
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Doron Gothelf
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Omri Weisman.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 29 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Weisman, O., Feldman, R., Burg-Malki, M. et al. Mother–Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome. J Autism Dev Disord 45, 2567–2577 (2015). https://doi.org/10.1007/s10803-015-2425-6

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10803-015-2425-6

Keywords

Search

Navigation