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Journal of Autism and Developmental Disorders

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09-11-2021 | Original Paper

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

Auteurs: Paola Francesca Ajmone, Beatrice Allegri, Anna Cereda, Giovanni Michelini, Francesca Dall’Ara, Milena Mariani, Claudia Rigamonti, Angelo Selicorni, Paola Vizziello, Maria Antonella Costantino

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 11/2022

Abstract

Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype–phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals.

vorige artikel Exploring Cultural Differences in Autistic Traits: A Factor Analytic Study of Children with Autism in China and the Netherlands

volgende artikel Theory of Mind Among Swedish Children with ASD, Down Syndrome and Typically Developing Group

Achenbach TM (2001). Child Behavior Checklist/4-18 Manuale. (Edizione italiana a cura di Frigerio A). Editore Ghedini Libraio Milano

Ajmone, P. F., Rigamonti, C., Dall’Ara, F., Monti, F., Vizziello, P., Milani, D., Cereda, A., Selicorni, A., & Costantino, A. (2014). Communication, cognitive development and behaviour in children with Cornelia de Lange syndrome (CdLS): Preliminary results. American Journal of Medical Genetics B, 165B, 223–229. https://doi.org/10.1002/ajmg.b.32224CrossRef

Arron, K., Oliver, C., Moss, J., Berg, K., & Burbidge, C. (2011). The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndrome. Journal of Intellectual Disability Research, 55(2), 109–120. https://doi.org/10.1111/j.1365-2788.2010.01337.xCrossRefPubMed

Balboni, G., & Pedrabissi, L. (2003). Adattamento italiano delle Vineland Adaptive Behavior Scales. Firenze, Italy: O.S. Organizzazioni Speciali.

Basile, E., Villa, L., Selicorni, A., & Molteni, M. (2007). The behavioural phenotype of Cornelia de Lange Syndrome: A study of 56 individuals. Journal of Intellectual Disability Research, 51, 671–681. https://doi.org/10.1111/j.1365-2788.2007.00977.xCrossRefPubMed

Bhuiyan, Z. A., Klein, M., Hammond, P., Van Haeringen, A., Mannens, M. M. A. M., Van Berckelaer, O. I., & Hennekam, R. C. M. (2006). Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience. Journal of Medical Genetics, 43, 568–575. https://doi.org/10.1136/jmg.2005.038240CrossRefPubMed

Bowen, J. R., Gibson, F. L., Leslie, G., Arnold, J. D., Ma, P. J., & Starte, D. R. (1996). Predictive value of the Griffiths assessment in extremely low birthweight infants. Journal of Paediatrics and Child Health, 32(1), 25–30. https://doi.org/10.1111/j.1440-1754.1996.tb01536.xCrossRefPubMed

Bruserudu, O., Oftedal, B. E., Landegren, N., Erichsen, M. M., Bratland, E., Lima, K., Jorgensen, A. P., Myhre, A. G., Svartberg, J., Fougner, K. J., Bakke, A., Nedrebo, B. G., Mella, B., Breivik, L., Viken, M. K., Knappskog, P. M., Marthinussen, M. C., Løvås, K., Kämpe, O., … Husebye, E. S. (2016). A longitudinal follow-up of autoimmune polyendocrine syndrome Tipe 1. The Journal of Clinical Endocrinology & Metabolism, 101(8), 2975–2983. https://doi.org/10.1210/jc.2016-1821CrossRef

Cameron, T. H., & Kelley, D. P. (1988). Normal language skills and normal intelligence in a child with de Lange syndrome. The Journal of Speech and Hearing Disorders, 53(2), 219–222. https://doi.org/10.1044/jshd.5302.219CrossRefPubMed

Cochran, L., Moss, J., Nelson, L., & Oliver, C. (2015). Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5-year follow-up. American Journal of Medical Genetics Part C, 169C, 188–197. https://doi.org/10.1002/ajmg.c.31438CrossRef

Firke S, Denney B, Haid C, Knight R, Grosser M, Zadra J. (2020). Janitor: Simple tools for examining and cleaning dirty data. R package version 2.0.1.

Fisher, M. H., Lense, M. D., & Dykens, E. M. (2016). Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome. Journal of Intellectual Disability Research, 60(10), 920–932. https://doi.org/10.1111/jir.12303CrossRefPubMed

Flesher, A., Moding, K., Davis, K., Montalvo, A., Boenig, R., & Johnson, S. (2020). Is self-feeding related to food consumption and observed child eating behaviours in infants and toddlers? Current Developments in Nutrition, 4(2), 985–985. https://doi.org/10.1093/cdn/nzaa054_057CrossRefPubMedCentral

Gaubatz, J., Prillwitz, C. C., Ernst, L., David, B., Hoppe, C., Hattingen, E., Weber, B., Vatter, H., Surges, R., Elger, C. E., & Rüber, T. (2020). Contralesional white matter alterations in patients after hemispherotomy. Frontiers in Human Neuroscience. https://doi.org/10.3389/fnhum.2020.00262CrossRefPubMedPubMedCentral

Gillis, L. A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A. D., Li, H., Devoto, M., Jackson, L. G., & Krantz, I. D. (2004). NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype- phenotype correlations. American Journal of Human Genetics, 75(4), 610–623. https://doi.org/10.1086/424698CrossRefPubMedPubMedCentral

Glass, G. V., Peckham, P. D., & Sanders, J. R. (1972). Consequences of failure to meet assumptions underlying the fixed effects analyses of variance and covariance. RER, 42(3), 237–288. https://doi.org/10.3102/00346543042003237CrossRef

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. https://doi.org/10.1002/ajmg.1320470725CrossRefPubMed

Grados, M. A., Mustafa, H. A., & Siddharth, S. (2017). Behavioural and psychiatric manifestations in Cornelia de Lange syndrome. Current Opinion in Psychiatry, 30(2), 92–96. https://doi.org/10.1097/YCO.0000000000000311CrossRefPubMedPubMedCentral

Griffiths R. (1986). The abilities of babies: A study in mental measurement. The Test Agency LTD.

Huisman, S. A., Redeker, E. J. W., Maas, S. M., Mannens, M. M., & Hennekam, R. C. M. (2013). High rate of mosaicism in individuals with Cornelia de Lange syndrome. Journal of Medical Genetics, 50(5), 339–344. https://doi.org/10.1136/jmedgenet-2012-101477CrossRefPubMed

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Ramos, F.J., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Wenger, T.L., Van Balkom, I., Piening, S., Wierzba, J., Hennekam, R.C. (2017). Phenotypes and genotypes in individuals with SMC1A variants. American Journal of Medical Genetics. 173, 2108–2125. https://doi.org/10.1002/ajmg.a.38279CrossRefPubMed

Kassambara A. (2020). Rstatix: Pipe-friendly framework for basic statistical tests. R package version 0.5.0.

Kline, A. D., Stanley, C., Belevich, J., Brodsky, K., Barr, M., & Jackson, L. (1993). Developmental data on individuals with the Brachmann de Lange syndrome. American Journal of Medical Genetics, 47A, 1053–1058. https://doi.org/10.1002/ajmg.1320470724CrossRef

Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M., Jackson, L. G., FitzPatrick, D. R., Levin, A. V., & Selicorni, A. (2007). Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics, 143A, 1287–1296. https://doi.org/10.1002/ajmg.a.31757CrossRefPubMed

Kline, A. D., Moss, F. J., Selicorni, A., Bisgaard, A. M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D.,Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A., O'Connor,J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C., Hennekam, R.C. (2018). Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement. Nature Reviews Genetics, 19(10), 649–666. https://doi.org/10.1038/s41576-018-0031-0CrossRefPubMedPubMedCentral

Lenth, R. (2020). Emmeans: Estimated Marginal Means, aka Least-Squares Means. R Package Version, 1(4), 7.

Mannini, L., Cucco, F., Quarantotti, V., Krantz, I. D., & Musio, A. (2013). Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Human Mutation, 34, 1589–1596. https://doi.org/10.1002/humu.22430CrossRefPubMed

Mariani, M., Decimi, V., Bettini, L. R., Maitz, S., Gervasini, C., Masciadri, M., Ajmone, P., Kullman, G., Dinelli, M., Panceri, R., Cereda, A., & Selicorni, A. (2016). Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 172(2), 206–213. https://doi.org/10.1002/ajmg.c.31502CrossRefPubMed

Mehta, D., Vergano, S. S. A., Deardorff, M., Aggarwal, S., Barot, A., Johnson, D. M., Miller, N. F., Noon, S. E., Kaur, M., Jackson, L., & Krantz, I. D. (2016). Characterization of limb differences in children with Cornelia de Lange Syndrome. American Journal of Medical Genetics Part C, Seminars in Medical Genetics, 172, 155–162. https://doi.org/10.1002/ajmg.c.31498CrossRefPubMed

Miller, G. A., & Chapman, J. P. (2011). Misunderstanding analysis of covariance. Journal of Abnormal Psychology, 110(1), 40. https://doi.org/10.1037/0021-843X.110.1.40CrossRef

Moss, J. F., Oliver, C., Berg, K., Kaur, G., Jephcott, L., & Cornish, K. (2008). The prevalence and phenomenology of autistic spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. AJMR, 113, 278–291. https://doi.org/10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2CrossRefPubMed

Moss, J., Penhallow, J., Ansari, M., Barton, S., Bourn, D., FitzPatrick, D. R., Goodship, J., Hammond, P., Roberts, C., Welham, A., & Oliver, C. (2017). Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioural characteristics and changes with age. American Journal of Medical Genetics, 173A, 1566–1574. https://doi.org/10.1002/ajmg.a.38228CrossRef

Mulder, P. A., Huisman, S. A., Hennekam, R. C., Oliver, C., Van Balkom, I. D. C., & Piening, S. (2016). Behaviour in Cornelia de Lange syndrome: A systematic review. Developmental Medicine and Child Neurology, 59(4), 361–366. https://doi.org/10.1111/dmcn.13361CrossRefPubMed

Mulder, P. A., Huisman, S., Landlust, A. M., Moss, J., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., Van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., … Van Balkom, I. D. C. (2019). Development, behaviour and autism in individuals with SMC1A variants. Journal of Child Psychology and Psychiatry, 60(3), 305–313. https://doi.org/10.1111/jcpp.12979CrossRefPubMed

Noyola, D. E., Demmler, G. J., Nelson, C. T., Griesser, C., Williamson, W. D., Atkins, J. T., Rozelle, J., Turcich, M., Llorente, A. M., Sellers-Vinson, S., Reynolds, A., Bale, J. J. F., Gerson, P., Yow, M. D., Houston Congenital CMV Longitudinal Study Group. (2001). Early predictors of neurodevelopmental outcome in symptomatic congenital cytomegalovirus infection. The Journal of Pediatrics 138(3), 325–331. https://doi.org/10.1067/mpd.2001.112061

O’Brien, G. (2006). Behavioural phenotypes: Causes and clinical implications. Advances in Psychiatric Treatment, 12, 338–348. https://doi.org/10.1192/apt.12.5.338CrossRef

Oliver, C., Arron, K., Hall, S., & Sloneem, J. (2008). The behavioural phenotype of Cornelia de Lange syndrome. British Journal of Psychiatry, 193(6), 466–470. https://doi.org/10.1192/bjp.bp.107.044370CrossRef

RCore Team. 2020. R: A language and environment for statistical computing. R Foundation for Statistical Computing.

Richards, C., Jones, C., Groves, L., Moss, J., & Oliver, C. (2015). Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. Lancet Psychiatry, 2, 10. https://doi.org/10.1016/S2215-0366(15)00376-4CrossRef

Roid, G.H. & Miller, L.J. (1995, 1997). Leiter International Performance Scale-Revised. Wood Dale, IL: Stoelting.

RStudio Team. (2020). RStudio: Integrated development environment for R. RStudio, Inc.

Sarimski, K. (1997). Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. Journal of Communication Disorders, 35(6), 483–500. https://doi.org/10.1016/S0021-9924(02)00117-XCrossRef

Sarimski, K. (2002). Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. Journal of Communication Disorders, 35, 483–500.CrossRef

Schopler, E., Reichle, J., Renner, B. (1988). The Childhood Autism Rating Scale (C.A.R.S.). Western Psychological Services.

Selicorni, A., Russo, S., Gervasini, C., Castronovo, P., Milani, D., Cavalleri, F., Bentivegna, A., Masciadri, M., Domi, A., Divizia, M. T., Sforzini, C., Tarantino, E., Memo, L., Scarano, G., & Larizza, L. (2007). Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clinical Genetics, 72(2), 98–108. https://doi.org/10.1111/j.1399-0004.2007.00832.xCrossRefPubMed

Sloneem, J., Arron, K., Hall, S. S., & Oliver, C. (2009). Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events. The Journal of Intellectual Disability Research, 53(7), 590–603. https://doi.org/10.1111/j.1365-2788.2009.01183.xCrossRefPubMed

Srivastava, S., Schmitt, C., Clark, B., Kline, A. D., Specht, M., & Grados, M. A. (2014). Autism traits in children and adolescents with Cornelia de Lange syndrome. American Journal of Medical Genetics, 164A, 1400–1410. https://doi.org/10.1002/ajmg.a.36573CrossRefPubMed

Torchiano, M. (2020). Effsize efficient effect size computation. R package version 0.8.0.

Van Schooneveld, M. M., & Braun, K. P. (2013). Cognitive outcome after epilepsy surgery in children. Brain & Development, 35(8), 721–729. https://doi.org/10.1016/j.braindev.2013.01.011CrossRef

Wickham, H., Averick, M., Bryan, J., Chang, W., McGowan, L. D. A., François, R., Grolemund, G., Hayes, A., Henry, L., Hester, J., Kuhn, M., Lin Pedersen, T., Miller, E., Milton Bache, S., Müller, K., Ooms, J., Robinson, D., Paige Seidel, D., Spinu, V., … Yutani, H. (2019). Welcome to the tidyverse. Journal of Open Source Software, 4(43), 1686.CrossRef

Winterkorn, E. B., Pulsifer, M. B., & Thiele, E. A. (2007). Cognitive prognosis of patients with tuberous sclerosis complex. Neurology, 68(1), 62–64. https://doi.org/10.1212/01.wnl.0000250330.44291.54CrossRefPubMed

Wulffaert, J., Van Berckelaer-Onnes, I., Kroonenberg, P., Scholte, E., Bhuiyan, Z., & Hennekam, R. (2009). Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. Journal of Intellectual Disability Research, 53(7), 604–619. https://doi.org/10.1111/j.1365-2788.2009.01185.xCrossRefPubMed

Xie, Y. (2020). Knitr: A general-purpose package for dynamic report generation in R, 2012. R package version, 1.28.

Yan, J., Saifi, M., Wierzba, T., Withers, M., Bien-Willner, G., Limon, J., Stankiewicz, P., Lupski, J. R., & Wierzba, J. (2006). Mutational and genotype-phenotype correlation analyses in 28 polish patients with Cornelia de Lange syndrome. American Journal of Medical Genetics, 140(14), 1531–1541. https://doi.org/10.1002/ajmg.a.31305CrossRefPubMed

Zambrelli, E., Fossati, C., Turner, K., Taiana, M., Vignoli, A., Gervasini, C., Russo, S., Furia, F., Masciadri, M., Ajmone, P., Kullman, G., Canevini, M. P., & Selicorni, A. (2016). Sleep disorders in Cornelia de Lange syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172(2), 214–221. https://doi.org/10.1002/ajmg.c.31497CrossRef

Titel: Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation
Auteurs: Paola Francesca Ajmone
Beatrice Allegri
Anna Cereda
Giovanni Michelini
Francesca Dall’Ara
Milena Mariani
Claudia Rigamonti
Angelo Selicorni
Paola Vizziello
Maria Antonella Costantino
Publicatiedatum: 09-11-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 11/2022
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-05343-8

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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

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Peri-Pregnancy Cannabis Use and Autism Spectrum Disorder in the Offspring: Findings from the Study to Explore Early Development

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