Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.
Cornelia de Lange syndrome
Repetitive behaviors
Self-injurious behaviors
Stereotypies
Journal
Journal of autism and developmental disorders
ISSN: 1573-3432
Titre abrégé: J Autism Dev Disord
Pays: United States
ID NLM: 7904301
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
pubmed:
19
8
2020
medline:
22
6
2021
entrez:
19
8
2020
Statut:
ppublish
Résumé
Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children (5-17 years) with CdLS were assessed with Children's Yale-Brown Obsessive Compulsive Scale Modified for PDD; Aberrant Behavior Checklist (ABC); Vineland Adaptive Behaviors Scales (VABS). All children had ≥ 1 type of RB; 44% had some form of SIB. 64% spent > 1 h/day displaying RBs. Lower VABS adaptive functioning was associated with higher stereotypy and SIB scores (ABC). In children with CdLS, RBs including SIB are common, impactful, and associated with lower adaptive functioning.
Identifiants
pubmed: 32809170
doi: 10.1007/s10803-020-04617-x
pii: 10.1007/s10803-020-04617-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1748-1758Subventions
Organisme : NIH HHS
ID : 5K12HS023000
Pays : United States
Organisme : NIH HHS
ID : 5K12HS023000
Pays : United States
Références
Aman, M., Singh, N., Stewart, A., & Field, C. (1986). The Aberrant Behavior Checklist: Manual. East Aurora, NY: Slosson Educational Publications.
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Philadelphia: American Psychiatric Association.
Arron, K., Oliver, C., Moss, J., Berg, K., & Burbidge, C. (2011). The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes. Journal of Intellectual Disability Research, 55, 109–120.
pubmed: 20977515
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.
pubmed: 17845236
Bate, K. S., Malouff, J. M., Thorsteinsson, E. T., & Bhullar, N. (2011). The efficacy of habit reversal therapy for tics, habit disorders, and stuttering: A meta-analytic review. Clinical Psychology Review, 31, 865–871.
pubmed: 21549664
Bell, L., Oliver, C., Wittkowski, A., Moss, J., & Hare, D. (2018). Attenuated behaviour in Cornelia de Lange and fragile X syndromes. Journal of Intellectual Disability Research, 62, 486–495.
pubmed: 29536582
Berney, T. P., Ireland, M., & Burn, J. (1999). Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood, 81, 333–336.
pubmed: 10490439
pmcid: 1718094
Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A.-M., & Tümer, Z. (2015). Cornelia de Lange syndrome. Clinical Genetics, 88, 1–12.
pubmed: 25209348
Bradley, E. A., Ames, C. S., & Bolton, P. F. (2011). Psychiatric conditions and behavioural problems in adolescents with intellectual disabilities: Correlates with autism. Canadian Journal of Psychiatry, 56, 102–109.
pubmed: 21333037
Burguière, E., Monteiro, P., Mallet, L., Feng, G., & Graybiel, A. M. (2015). Striatal circuits, habits, and implications for obsessive-compulsive disorder. Current Opinion in Neurobiology., 30, 59–65.
pubmed: 25241072
Chlebowski, C., Green, J. A., Barton, M. L., & Fein, D. (2010). Using the childhood autism rating scale to diagnose autism spectrum disorders. Journal of Autism and Developmental Disorders, 40, 787–799.
pubmed: 20054630
pmcid: 3612531
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, 313–317.
pubmed: 22885700
pmcid: 3443318
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. American Journal of Human Genetics, 80, 485–494.
pubmed: 17273969
pmcid: 1821101
Didden, R., Korzilius, H., Sturmey, P., Lancioni, G. E., & Curfs, L. M. G. (2008). Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. Journal of Intellectual Developmental Disability, 33, 59–64.
pubmed: 18300168
Doehring, P., Reichow, B., Palka, T., Phillips, C., & Hagopian, L. (2014). Behavioral approaches to managing severe problem behaviors in children with autism spectrum and related developmental disorders: A descriptive analysis. Child and Adolescent Psychiatric Clinics of North America, 23, 25–40.
pubmed: 24231165
Duerden, E. G., Oatley, H. K., Mak-Fan, K. M., McGrath, P. A., Taylor, M. J., Szatmari, P., et al. (2012). Risk factors associated with self-injurious behaviors in children and adolescents with autism spectrum disorders. Journal of Autism and Developmental Disorders, 42, 2460–2470.
pubmed: 22422338
Fovel, J. T., Lash, P. S., Barron, D. A., & Roberts, M. S. (1989). A survey of self-restraint, self-injury, and other maladaptive behaviors in an institutionalized retarded population. Research in Developmental Disabilities, 10, 377–382.
pubmed: 2587828
Gal, E., Dyck, M. J., & Passmore, A. (2009). The relationship between stereotyped movements and self-injurious behavior in children with developmental or sensory disabilities. Research in Developmental Disabilities, 30, 342–352.
pubmed: 18693081
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. American Journal of Human Genetics, 75, 610–623.
pubmed: 15318302
pmcid: 1182048
Goldman, S., Wang, C., Salgado, M. W., Greene, P. E., Kim, M., & Rapin, I. (2009). Motor stereotypies in children with autism and other developmental disorders. Developmental Medicine and Child Neurology, 51, 30–38.
pubmed: 19087102
Griffin, J. C., Williams, D. E., Stark, M. T., Altmeyer, B. K., & Mason, M. (1986). Self-injurious behavior: A state-wide prevalence survey of the extent and circumstances. Applied Research in Mental Retardation, 7, 105–116.
pubmed: 3963804
Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A.-M., Brooks, A., et al. (2017). Phenotypes and genotypes in individuals with SMC1A variants. American Journal of Medical Genetics Part A, 173, 2108–2125.
pubmed: 28548707
Hyman, P., Oliver, C., & Hall, S. (2002). Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. American Journal of Mental Retardation, 107, 146–154.
pubmed: 11853532
Kawauchi, S., Calof, A. L., Santos, R., Lopez-Burks, M. E., Young, C. M., Hoang, M. P., et al. (2009). Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genetics, 5, e1000650.
pubmed: 19763162
pmcid: 2730539
Kawauchi, S., Santos, R., Muto, A., Lopez-Burks, M. E., Schilling, T. F., Lander, A. D., et al. (2016). Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 172(2), 138–145.
Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M., Jackson, L. G., FitzPatrick, D. R., et al. (2007). Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics A, 143A, 1287–1296.
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A.-M., Deardorff, M. A., Gillett, P. M., et al. (2018). Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649–666.
pubmed: 29995837
pmcid: 7136165
Lam, K. S. L., Bodfish, J. W., & Piven, J. (2008). Evidence for three subtypes of repetitive behavior in autism that differ in familiality and association with other symptoms. Journal of Child Psychology and Psychiatry, 49, 1193–1200.
pubmed: 19017031
Luzzani, S., Macchini, F., Valadè, A., Milani, D., & Selicorni, A. (2003). Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms. A, 119A, 283–287.
Matson, J. L., & Nebel-Schwalm, M. (2007). Assessing challenging behaviors in children with autism spectrum disorders: A review. Research in Developmental Disabilities, 28, 567–579.
pubmed: 16973329
Medeiros, K., Curby, T. W., Bernstein, A., Rojahn, J., & Schroeder, S. R. (2013). The progression of severe behavior disorder in young children with intellectual and developmental disabilities. Research in Developmental Disabilities, 34, 3639–3647.
pubmed: 24012587
pmcid: 4453924
Moss, J., Howlin, P., Magiati, I., & Oliver, C. (2012). Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. Journal of Child Psychology and Psychiatry, 53, 883–891.
pubmed: 22490014
Moss, J., Oliver, C., Arron, K., Burbidge, C., & Berg, K. (2009). The prevalence and phenomenology of repetitive behavior in genetic syndromes. Journal of Autism and Developmental Disorders, 39, 572–588.
pubmed: 19037716
Moss, J. F., 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, 278–291.
pubmed: 18564888
Nelson, L., Moss, J., & Oliver, C. (2014). A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome. American Journal on Intellectual and Developmental Disabilities, 119, 235–252.
pubmed: 24871792
Oliver, C., Arron, K., Sloneem, J., & Hall, S. (2008). Behavioural phenotype of Cornelia de Lange syndrome: Case–control study. British Journal of Psychiatry, 193, 466–470.
Oliver, C., Sloneem, J., Hall, S., & Arron, K. (2009). Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. Journal of Intellectual Disability Research, 53, 575–589.
pubmed: 19522788
Richards, C., Oliver, C., Nelson, L., & Moss, J. (2012). Self-injurious behaviour in individuals with autism spectrum disorder and intellectual disability. Journal of Intellectual Disability Research, 56, 476–489.
pubmed: 22404122
Richman, D. M., & Lindauer, S. E. (2005). Longitudinal assessment of stereotypic, proto-injurious, and self-injurious behavior exhibited by young children with developmental delays. American Journal of Mental Retardation, 110, 439–450.
pubmed: 16212447
Roshan Lal, T. R., Kliewer, M. A., Lopes, T., Rebsamen, S. L., O’Connor, J., Grados, M. A., et al. (2016). Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 119(6), 496–515.
Scahill, L., McDougle, C. J., Williams, S. K., Dimitropoulos, A., Aman, M. G., McCracken, J. T., et al. (2006). Children’s Yale-Brown Obsessive Compulsive Scale modified for pervasive developmental disorders. Journal of the American Academy of Child & Adolescent Psychiatry, 45, 1114–1123.
Sparrow, S., Balla, D., & Cicchetti, D. (1984). The Vineland Adaptive Behavior Scales: Interview. Circle pines: American Guidance Service.
Srivastava, S., Landy-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 A, 164A, 1400–1410.
Symons, F. J., Sperry, L. A., Dropik, P. L., & Bodfish, J. W. (2005). The early development of stereotypy and self-injury: a review of research methods. Journal of Intellectual Disability Research, 49, 144–158.
pubmed: 15634323
van den Berg, D. L. C., Azzarelli, R., Oishi, K., Martynoga, B., Urbán, N., Dekkers, D. H. W., et al. (2017). Nipbl interacts with Zfp609 and the integrator complex to regulate cortical neuron migration. Neuron, 93, 348–361.
pubmed: 28041881
pmcid: 5263256
Vuilleumier, N., Kövari, E., Michon, A., Hof, P. R., Mentenopoulos, G., Giannakopoulos, P., et al. (2002). Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathologica, 104, 327–332.
pubmed: 12172920
Watkins, A., Bissell, S., Moss, J., Oliver, C., Clayton-Smith, J., Haye, L., et al. (2019). Behavioural and psychological characteristics in Pitt-Hopkins syndrome: A comparison with Angelman and Cornelia de Lange syndromes. Journal of Neurodevelopmental Disorders, 11, 24.
pubmed: 31586495
pmcid: 6778364
Yamaguchi, K., & Ishitobi, F. (1999). Brain dysgenesis in Cornelia de Lange syndrome. Clinical Neuropathology, 18, 99–105.
pubmed: 10192706