Sleep correlates of behavior functioning in Cornelia de Lange syndrome.
NIPBL
SMC1A
attention
behavior functioning
genetics/genetic disorders
sleep
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
Nov 2024
Nov 2024
Historique:
revised:
06
05
2024
received:
29
12
2023
accepted:
05
06
2024
medline:
12
10
2024
pubmed:
12
10
2024
entrez:
12
10
2024
Statut:
ppublish
Résumé
Pathogenic variants in the cohesin genes, NIPBL and SMC1A, both cause Cornelia de Lange syndrome (CdLS), a rare genetic disorder associated with developmental delay and intellectual disability. This study aimed to compare sleep behaviors across individuals with CdLS caused by a variant in NIPBL or SMC1A, and identify relationships between sleep and behavior functioning. A total of 31 caregivers of individuals with a variant in NIPBL (N = 22) or SMC1A (N = 9) completed questionnaires regarding their child's sleep behaviors, behavior regulation, attention, and autistic features (repetitive behaviors and social communication difficulties) as part of the Coordination of Rare Diseases (CoRDS) registry. Findings showed a trend of increased behavior regulation difficulties and repetitive behaviors in the NIPBL compared to the SMC1A participants. Both groups presented with a similar degree of attention, social communication, and sleep challenges. In the whole sample, sleep disturbance was strongly correlated with more behavior regulation difficulties, a relationship that was more robust in the NIPBL sample. In brief, study results support our prior observations of greater behavior difficulties among those with a variant in NIPBL as compared to SMC1A. Preliminary findings point to unique associations between sleep and behavior regulation in the NIPBL group, suggesting sleep interventions may yield differential effects on behavior management across variants.
Identifiants
pubmed: 39394947
doi: 10.1002/ajmg.a.63793
doi:
Substances chimiques
Cell Cycle Proteins
0
NIPBL protein, human
0
structural maintenance of chromosome protein 1
0
Chromosomal Proteins, Non-Histone
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63793Subventions
Organisme : Wiedemann-Steiner Syndrome Foundation
Organisme : KAT6 Foundation
Organisme : Kennedy Krieger Institute's National Institutes of Health
ID : P50HD103538
Informations de copyright
© 2024 Wiley Periodicals LLC.
Références
Abel, E. A., & Tonnsen, B. L. (2017). Sleep phenotypes in infants and toddlers with neurogenetic syndromes. Sleep Medicine, 38, 130–134.
Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, S., Hennekam, R. C., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., … FitzPatrick, D. R. (2014). Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS‐like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics, 51(10), 659–668.
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(9), 671–681.
Bergeron, M., Chang, K., & Ishman, S. L. (2020). Cornelia de Lange manifestations in otolaryngology: A systematic review and meta‐analysis. The Laryngoscope, 130(4), E122–E133.
Berney, T. P., Ireland, M., & Burn, J. (1999). Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood, 81(4), 333–336.
Bhuiyan, Z. A., Klein, M., Hammond, P., van Haeringen, A., Mannens, M. M., Van Berckelaer‐Onnes, I., & Hennekam, R. C. (2006). Genotype‐phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience. Journal of Medical Genetics, 43(7), 568–575.
Blackmer, A. B., & Feinstein, J. A. (2016). Management of sleep disorders in children with neurodevelopmental disorders: A review. Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 36(1), 84–98.
Cotton, S., & Richdale, A. (2006). Brief report: parental descriptions of sleep problems in children with autism, Down syndrome, and Prader–Willi syndrome. Research in Developmental Disabilities, 27(2), 151–161.
Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., Saitoh, K., Komata, M., Katou, Y., Clark, D., Cole, K. E., De Baere, E., Decroos, C., Di Donato, N., Ernst, S., Francey, L. J., Gyftodimou, Y., Hirashima, K., Hullings, M., … Shirahige, K. (2012). HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature, 489(7415), 313–317.
Deardorff, M. A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Gil‐Rodríguez, C., Arnedo, M., Loeys, B., Kline, A. D., Wilson, M., Lillquist, K., Siu, V., Ramos, F. J., Musio, A., Jackson, L. S., Dorsett, D., & Krantz, I. D. (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.
Deardorff, M. A., Wilde, J. J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., Mönnich, M., Yan, Y., Xu, W., Gil‐Rodríguez, M. C., Clark, D., Hakonarson, H., Halbach, S., Michelis, L. D., Rampuria, A., Rossier, E., Spranger, S., Van Maldergem, L., Lynch, S. A., … Kaiser, F. J. (2012). RAD21 mutations cause a human cohesinopathy. The American Journal of Human Genetics, 90(6), 1014–1027.
Gil‐Rodríguez, M. C., Deardorff, M. A., Ansari, M., Tan, C. A., Parenti, I., Baquero‐Montoya, C., Ousager, L. B., Puisac, B., Hernández‐Marcos, M., Teresa‐Rodrigo, M. E., Marcos‐Alcalde, I., Wesselink, J. J., Lusa‐Bernal, S., Bijlsma, E. K., Braunholz, D., Bueno‐Martinez, I., Clark, D., Cooper, N. S., Curry, C. J., … Pié, J. (2015). De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome‐overlapping phenotypes. Human Mutation, 36(4), 454–462.
Gualtieri, C. T. (1991). Behavior in the Cornelia de Lange syndrome. In Neuropsychiatry and Behavioral Pharmacology (pp. 173–186). Springer New York.
Hall, S. S., Arron, K., Sloneem, J., & Oliver, C. (2008). Health and sleep problems in Cornelia de Lange syndrome: A case control study. Journal of Intellectual Disability Research, 52(5), 458–468.
Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D., … Krantz, I. D. (2023). Genomic analyses in Cornelia de Lange syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms. American Journal of Medical Genetics Part A, 191(8), 2113–2131.
Kline, A. D., Grados, M., Sponseller, P., Levy, H. P., Blagowidow, N., Schoedel, C., Rampolla, J., Clemens, D. K., Krantz, I., Kimball, A., Pichard, C., & Tuchman, D. (2007). Natural history of aging in Cornelia de Lange syndrome. American Journal of Medical Genetics Part C, 145(3), 248–260.
Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M., Jackson, L. G., FitzPatrick, D. R., … Selicorni, A. (2007). Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics Part A, 143(12), 1287–1296.
Kline, A. D., Moss, J. F., 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., … Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement. Nature Reviews Genetics, 19(10), 649–666.
Kline, A. D., Stanley, C., Belevich, J., Brodsky, K., Barr, M., & Jackson, L. G. (1993). Developmental data on individuals with the Brachmann‐de Lange syndrome. American Journal of Medical Genetics, 47, 1053–1058.
Lewis, M., & Kim, S. J. (2009). The pathophysiology of restricted repetitive behavior. Journal of Neurodevelopmental Disorders, 1(2), 114–132.
Li, C., Fitzpatrick, S. J., Riley, J. M., Sestito, A. P., Duggins, A. L., Raible, S. E., Ishman, S. L., … Smith, D. F. (2022). Sleep disturbance in Cornelia de Lange Syndrome [Virtual paper presentation]. 2022 Cornelia de Lange Syndrome Foundation National Virtual Conference.
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(12), 1589–1596.
Marcus, C. L., Brooks, L. J., Ward, S. D., Draper, K. A., Gozal, D., Halbower, A. C., Jones, J., Schechter, M. S., Ward, S. D., Sheldon, S. H., Shiffman, R. N., Lehmann, C., & Spruyt, K. (2012). Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics, 130(3), e714–e755.
Mindell, J. A., & Meltzer, L. J. (2008). Behavioural sleep disorders in children and adolescents. Annals Academy of Medicine Singapore, 37(8), 722–728.
Mindell, J. A., & Owens, J. A. (2015). A clinical guide to pediatric sleep: Diagnosis and management of sleep problems. Lippincott Williams & Wilkins.
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(8), 883–891.
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: Behavioral characteristics and changes with age. American Journal of Medical Genetics Part A, 173(6), 1566–1574.
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 on Mental Retardation, 113(4), 278–291.
Mulder, P. A., Huisman, S. A., Hennekam, R. C., Oliver, C., Van Balkom, I. D., & Piening, S. (2017). Behaviour in Cornelia de Lange syndrome: A systematic review. Developmental Medicine and Child Neurology, 59(4), 361–366.
Nakanishi, M., Deardorff, M. A., Clark, D., Levy, S. E., Krantz, I., & Pipan, M. (2012). Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. American Journal of Medical Genetics Part A, 158(8), 1841–1847.
Ng, R., O'Connor, J., Summa, D., & Kline, A. D. (2024). Neurobehavioral and developmental profiles: Genotype–phenotype correlations in individuals with Cornelia de Lange syndrome. Orphanet Journal of Rare Diseases, 19(1), 111.
Oliver, C., Arron, K., Sloneem, J., & Hall, S. (2008). Behavioural phenotype of Cornelia de Lange syndrome: Case–control study. The British Journal of Psychiatry, 193(6), 466–470.
Olley, G., Ansari, M., Bengani, H., Grimes, G. R., Rhodes, J., von Kriegsheim, A., Blatnik, A., Stewart, F. J., Wakeling, E., Carroll, N., Ross, A., Park, S. M., Deciphering Developmental Disorders Study, Bickmore, W. A., Pradeepa, M. M., & FitzPatrick, D. R. (2018). BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome. Nature Genetics, 50(3), 329–332.
Parma, B., Cianci, P., Mariani, M., Cereda, A., Panceri, R., Fossati, C., Maestri, L., Macchini, F., Onesimo, R., Zampino, G., Betalli, P., Cheli, M., & Selicorni, A. (2020). Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates? American Journal of Medical Genetics Part A, 182(7), 1697–1703.
Phillips, N. L., Moore, T., Teng, A., Brookes, N., Palermo, T. M., & Lah, S. (2020). Behavioral interventions for sleep disturbances in children with neurological and neurodevelopmental disorders: A systematic review and meta‐analysis of randomized controlled trials. Sleep, 43(9), zsaa040.
Rajan, R., Benke, J. R., Kline, A. D., Levy, H. P., Kimball, A., Mettel, T. L., Boss, E. F., & Ishman, S. L. (2012). Insomnia in Cornelia de Lange syndrome. International Journal of Pediatric Otorhinolaryngology, 76(7), 972–975.
Riva, D., Taddei, M., & Bulgheroni, S. (2018). The neuropsychology of basal ganglia. European Journal of Paediatric Neurology, 22(2), 321–326.
Robinson‐Shelton, A., & Malow, B. A. (2016). Sleep disturbances in neurodevelopmental disorders. Current Psychiatry Reports, 18, 1–8.
Sarimski, K. (1997). Communication, social‐emotional development and parenting stress in Cornelia‐de‐Lange syndrome. Journal of Intellectual Disability Research, 41(1), 70–75.
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 Part A, 164(6), 1400–1410.
Stavinoha, R. C., Kline, A. D., Levy, H. P., Kimball, A., Mettel, T. L., & Ishman, S. L. (2011). Characterization of sleep disturbance in Cornelia de Lange syndrome. International Journal of Pediatric Otorhinolaryngology, 75(2), 215–218.
Trois, M. S., Capone, G. T., Lutz, J. A., Melendres, M. C., Schwartz, A. R., Collop, N. A., & Marcus, C. L. (2009). Obstructive sleep apnea in adults with Down syndrome. Journal of Clinical Sleep Medicine, 5(4), 317–323.
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, 172(2), 214–221.