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21-09-2019 | Original Paper | Uitgave 1/2020

A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 1/2020

Auteurs:: Hayley Crawford, Joanna Moss, Laura Groves, Robyn Dowlen, Lisa Nelson, Donna Reid, Chris Oliver

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Abstract

Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. Participants with CdLS showed heightened social anxiety and reduced social motivation only during interactions with an unfamiliar adult when active participation was voluntary.

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Meer informatie

Beck, B. (1976). Epidemiology of Cornelia de Lange’s syndrome. Acta Paediatrica, 65(4), 631–638.

Beesdo-Baum, K., & Knappe, S. (2012). Developmental epidemiology of anxiety disorders. Child and Adolescent Psychiatric Clinics, 21(3), 457–478.

Beidel, D. C., Turner, S. M., & Morris, T. L. (1995). A new inventory to assess childhood social anxiety and phobia: The social phobia and anxiety inventory for children. Psychological Assessment, 7(1), 73–79.

Bernstein, G. A., Borchardt, C. M., & Perwien, A. R. (1996). Anxiety disorders in children and adolescents: A review of the past 10 years. Journal of the American Academy of Child and Adolescent Psychiatry, 35(9), 1110–1119. PubMed

Chapman, R., & Hesketh, L. (2000). Behavioural phenotype of individuals with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 6, 84–95. PubMed

Coffee, B., Keith, K., AlbizuaMalone, T., Mowrey, J., Sherman, S. L., et al. (2009). Incidence of Fragile X syndrome by newborn screening for methylated FMR1 DNA. The American Journal of Human Genetics, 85(4), 503–514. PubMed

Cohen, I. L., Vietze, P. M., Sudhalter, V., Jenkins, E. C., & Brown, W. T. (1989). Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. Journal of Child Psychology and Psychiatry, 30(6), 845–856. PubMed

Cohen, I. L., Vietze, P. M., Sudhalter, V., Jenkins, E. C., & Brown, W. T. (1991). Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males. American Journal of Medical Genetics Part A, 38(2–3), 498–502.

Cordeiro, L., Ballinger, E., Hagerman, R., & Hessl, D. (2011). Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: Prevalence and characterization. Journal of Neurodevelopmental Disorders, 3(1), 57–67. PubMed

Cornish, K., Turk, J., & Hagerman, R. (2008). The fragile X continuum: New advances and perspectives. Journal of Intellectual Disability Research, 52(6), 469–482. PubMed

Coupry, I., Roudaut, C., Stef, M., Delrue, M. A., Marche, M., Burgelin, I., et al. (2002). Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. Journal of Medical Genetics, 39(6), 415–421. PubMedPubMedCentral

Crawford, D. C., Acuna, J. M., & Sherman, S. L. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genetics in Medicine, 3(5), 359–371. PubMedPubMedCentral

Crawford, H., Waite, J., & Oliver, C. (2017). Diverse profiles of anxiety in Fragile X, Cornelia de Lange and Rubinstein-Taybi syndromes. Journal of Autism and Developmental Disorders, 47(12), 3728–3750. PubMedPubMedCentral

Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., et al. (2012). HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature, 489(7415), 313–317. PubMedPubMedCentral

Deardorff, M. A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., et al. (2007). Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. The American Journal of Human Genetics, 80(3), 485–494. PubMed

Dunn, L. M., Whetton, C., & Burley, J. (1997). The British Picture Vocabulary Scale, Second Edition Testbook. Windsor: NFER.

Dykens, E. M. (2007). Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 13(3), 272–278. PubMed

Fidler, D., Most, D., & Philofsky, A. (2009). The Down syndrome behavioural phenotype: Taking a developmental approach. Down’s Syndrome, Research and Practice, 12(3), 37–44.

Fleiss, J. L. (1981). Statistical methods for rates and proportions (2nd ed.). New York: Wiley.

Fydrich, T., Chambless, D. L., Perry, K. J., Buergener, F., & Beazley, M. B. (1998). Behavioral assessment of social performance: A rating system for social phobia. Behaviour Research and Therapy, 36(10), 995–1010. PubMed

Galéra, C., Taupiac, E., Fraisse, S., Naudion, S., Toussaint, E., Rooryck-Thambo, C., et al. (2009). Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. Journal of Autism and Developmental Disorders, 39(9), 1252–1260. PubMed

Gibbs, M. V., & Thorpe, J. G. (1983). Personality stereotype of noninstitutionalized Down syndrome children. American Journal of Mental Deficiency, 102(3), 228–237.

Gillis, L. A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., et al. (2004). NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. The American Journal of Human Genetics, 75(4), 610–623. PubMed

Goodban, M. T. (1993). Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. American Journal of Medical Genetics, 47(7), 1059–1063. PubMed

Hagerman, R. J., & Hagerman, P. J. (2002). Fragile X syndrome: Diagnosis, treatment, and research. US: Taylor & Francis.

Hall, S., DeBernardis, M., & Reiss, A. L. (2006). Social escape behaviors in children with fragile X syndrome. Journal of Autism and Developmental Disorders, 36(7), 935–947. PubMed

Hennekam, R. C. (2006). Rubinstein-Taybi syndrome. European Journal of Human Genetics, 14(9), 981–985. PubMed

Hennekam, R. C., Baselier, A. C., Beyaert, E., & Bos, A. (1992). Psychological and speech studies in Rubinstein-Taybi syndrome. American Journal on Mental Retardation, 96(6), 645–660. PubMed

Hennekam, R. C., Van Den Boogaard, M.-J., Sibbles, B. J., & Van Spijker, H. G. (1990). Rubinstein-Taybi syndrome in the Netherlands. American Journal of Medical Genetics, 37(56), 17–29.

Hessl, D., Glaser, B., Dyer-Friedman, J., & Reiss, A. L. (2006). Social behavior and cortisol reactivity in children with fragile X syndrome. Journal of Child Psychology and Psychiatry, 47(6), 602–610. PubMed

Hirst, M. C., Knight, S. J., Christodoulou, Z., Grewal, P. K., Fryns, J. P., & Davies, K. E. (1993). Origins of the fragile X syndrome mutation. Journal of Medical Genetics, 30, 647–650. PubMedPubMedCentral

Horsler, K., & Oliver, C. (2006). Environmental influences on the behavioural phenotype of Angelman syndrome. American Journal on Mental Retardation, 111(5), 311–321. PubMed

Jones, W., Bellugi, U., Lai, Z., Chiles, M., Reilly, J., Lincoln, A., et al. (2000). II. Hypersociability in Williams syndrome. Cognitive Neuroscience, 12(1), 30–46.

Kalkhoven, E., Roelfsema, J. H., Teunissen, H., den Boer, A., Ariyurek, Y., Zantema, A., et al. (2003). Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Human Molecular Genetics, 12(4), 441–450. PubMed

Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., et al. (2004). Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics, 36(6), 631–635. PubMedPubMedCentral

Kushlick, A., Blunden, R., & Cox, C. (1973). A method of rating behaviour characteristics for use in large scale surveys of mental handicap. Psychological Medicine, 3, 466–478. PubMed

Lacombe, D., Saura, R., Taine, L., & Battin, J. (1992). Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. American Journal of Medical Genetics, 44(1), 126–128. PubMed

Langthorne, P., McGill, P., & Oliver, C. (2013). The motivating operation and negatively reinforced problem behaviour: A systematic review. Behaviour Modification, 38(1), 107–159.

Lesniak-Karpiak, K., Mazzocco, M. M. M., & Ross, J. L. (2003). Behavioral assessment of social anxiety in females with Turner or fragile X syndrome. Journal of Autism and Developmental Disorders, 33(1), 55–67. PubMed

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

Minor, A., Shinawi, M., Hogue, J. S., Vineyard, M., Hamlin, D. R., Tan, C., et al. (2014). Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Genetics in Medicine, 537(2), 279–284.

Miyake, N., Visser, R., Kinoshita, A., Yoshiura, K.-I., Niikawa, N., Kondoh, T., et al. (2005). Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. American Journal of Medical Genetics Part A, 135(1), 103–105. PubMed

Moss, J., Howlin, P., Hastings, R. P., Beaumont, S., Griffith, G. M., Petty, J., et al. (2013a). Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. American Journal on Intellectual and Developmental Disabilities, 118(4), 262–283. PubMed

Moss, J., Nelson, L., Powis, L., Waite, J., Richards, C., & Oliver, C. (2016). A comparative study of sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein-Taybi syndromes and autism spectrum disorder. American Journal on Intellectual and Developmental Disabilities, 121(6), 465–486. PubMed

Moss, J., Oliver, C., Berg, K., Kaur, G., Jephcott, L., & Cornish, K. (2008). Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. American Journal of Mental Retardation, 113(4), 278–291. PubMed

Moss, J., Oliver, C., Nelson, L., Richards, C., & Hall, S. (2013b). Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and fragile X syndromes. American Journal on Intellectual and Developmental Disabilities, 118(1), 55–73. PubMed

Musio, A., Selicorni, A., Focarelli, M. L., Gervasini, C., Milani, D., Russo, S., et al. (2006). X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature Genetics, 38(5), 528–530. PubMed

Nelson, L., Crawford, H., Reid, D., Moss, J., & Oliver, C. (2017). An experimental study of executive function and social impairment in Cornelia de Lange syndrome. Journal of Neurodevelopmental Disorders, 9, 33. PubMedPubMedCentral

Oliver, C., Adams, D., Allen, D., Bull, L., Heald, M., Moss, J., et al. (2013). Causal models of clinically significant behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis syndromes. International Review of Research in Developmental Disabilities, 44, 167–212.

Oliver, C., Horsler, K., Berg, K., Bellamy, G., Dick, K., & Griffiths, E. (2007). Genomic imprinting and the expression of affect in Angelman syndrome What’s in the smile? Journal of Child Psychology and Psychiatry, 48(6), 571–579. PubMed

Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C., Masuno, M., et al. (1995). Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature, 376(6538), 348–351.

Reid, D., Moss, J., Nelson, L., Groves, L., & Oliver, C. (2017). Executive functioning in Cornelia de Lange syndrome: Domain asynchrony and age-related performance. Journal of Neurodevelopmental Disorders, 9, 29. PubMedPubMedCentral

Richards, C., Moss, J., O’Farrell, L., Kaur, G., & Oliver, C. (2009). Social anxiety in Cornelia de Lange syndrome. Journal of Autism and Developmental Disorders, 39(8), 1155–1162. PubMed

Roberts, J. E., Crawford, H., Hogan, A. L., Fairchild, A., Tonnsen, B., Brewe, A., et al. (2019). Social avoidance emerges in infancy and persists into adulthood in fragile X syndrome. Journal of Autism and Developmental Disorders, 49(9), 3753–3766. PubMed

Roberts, J. E., Clarke, M. A., Alcorn, K., Carter, J. C., Long, A. C. J. & Kaufmann, W. E. (2009). Autistic behavior in boys with fragile X syndrome: Social approach and HPA-axis dysfunction. Journal of Neurodevelopmental Disorders, 1(4), 283–291. PubMedPubMedCentral

Roberts, J. E., Weisenfeld, L. A. H., Hatton, D. D., Heath, M., & Kaufmann, W. E. (2007). Social approach and autistic behavior in children with fragile X syndrome. Journal of Autism and Developmental Disorders, 37(9), 1748–1760. PubMed

Roelfsema, J. H., White, S. J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., et al. (2005). Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease. The American Journal of Human Genetics, 76(4), 572–580. PubMed

Rutter, M., Bailey, A., & Lord, C. (2003). The Social Communication Questionnaire. Los Angeles: Western Psychological Services.

Sparrow, S. S., Cicchetti, D. V., & Balla, D. A. (2005). Vineland-II Adaptive Behavior Scales: Survey forms manual. Circle Pines: AGS Publishing.

Stevens, C. A., Pouncey, J., & Knowles, D. (2011). Adults with Rubinstein-Taybi syndrome. American Journal of Medical Genetics Part A, 155(7), 1680–1684.

Tager-Flusberg, H., Skwerer, D. P., & Joseph, R. M. (2006). Model syndromes for investigating social cognitive and affective neurosciene: A comparison of autism and Williams syndrome. Social Cognitive and Affective Neuroscience, 1(3), 175–182. PubMedPubMedCentral

Tunnicliffe, P., & Oliver, C. (2011). Phenotype-environment interactions in genetic syndromes associated with severe or profound intellectual disability. Research in Developmental Disabilities, 32, 404–418. PubMed

Wishart, J. G., & Johnston, F. H. (1990). The effects of experience on attribution of a stereotyped personality to children with Down’s syndrome. Journal of Intellectual Disability Research, 34(5), 409–420.

Yagihashi, T., Kenjiro, K., Nobuhiko, O., Mizuno, S., Kenji, K., Takao, T., et al. (2012). Age-dependent change in behavioural feature in Rubinstein-Taybi syndrome. Congenital Anomalies, 52(2), 82–86. PubMed

Yeganeh, R., Beidel, D. C., & Turner, S. M. (2006). Selective mutism: More than social anxiety? Depression and Anxiety, 23(3), 117–123. PubMed

Titel: A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes
Auteurs:: Hayley Crawford
Joanna Moss
Laura Groves
Robyn Dowlen
Lisa Nelson
Donna Reid
Chris Oliver
Publicatiedatum: 21-09-2019
DOI: https://doi.org/10.1007/s10803-019-04232-5
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 1/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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