Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

11-10-2021 | Original Paper

Characterizing Sleep Problems in 16p11.2 Deletion and Duplication

Auteurs: Dana Kamara, Paul De Boeck, Luc Lecavalier, Emily Neuhaus, Theodore P. Beauchaine

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 4/2023

Abstract

Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep disturbance in a well-characterized national sample of 16p11.2 CNVs, the Simons Foundation Autism Research Initiative (SFARI) database of youth and adults (n = 692). Factor analyses and multilevel models of derived sleep questionnaires for youth (n = 345) and adults (n = 347) indicate that 16p11.2 carriers show elevated sleep disturbance relative to community controls. Non-carrier family members also show elevated sleep disturbance. However, sleep duration does not differ between carriers and controls. Further studies of sleep in 16p11.2 are needed.

vorige artikel World Health Organisation-Caregiver Skills Training (WHO-CST) Program: Feasibility of Delivery by Non-Specialist Providers in Real-world Urban Settings in India

volgende artikel Caregiver Insights and Improvement Strategies for Youth with Autism Undergoing Gastrointestinal Endoscopy

Fisher-Freeman-Halton exact tests determine whether observed values differ from expected values overall for all groups, but do not allow for firm conclusions about which specific differences are significant.

Notation: PSQ_ij = Pediatric sleep questionnaire score (outcome variable); γ₀₀ = Level 2 intercept/grand mean across level 2 units; u_0j = random error term; r_ij = Level 1 residual error term.

All contrasts here and throughout met the assumption of residual variances not differing across families.

Achenbach, T. M., & Rescorla, L. A. (2000). Manual for the ASEBA preschool forms and profiles. University of Vermont, Research Center for Children, Youth, & Families.

Acock, A. C. (2005). Working with missing values. Journal of Marriage and Family, 67, 1012–1028. https://doi.org/10.1111/j.1741-3737.2005.00191.xCrossRef

American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Author.CrossRef

Angelakos, C. C., Watson, A. J., O’Brien, T., Krainock, K. S., Nickl-Jockschat, T., & Abel, T. (2017). Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism. Autism Research, 10, 572–584. https://doi.org/10.1002/aur.1707CrossRefPubMed

Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., & Dowling, N. F. (2018). Prevalence of autism spectrum disorder among children aged 8 years—Autism and developmental disabilities monitoring network, 11 sites, U.S., 2014. Morbidity and Mortality Weekly Report Surveillance Summaries, 67, 1–23. https://doi.org/10.15585/mmwr.ss6706a1CrossRefPubMedPubMedCentral

Bazzano, A., Wolfe, C., Zylowska, L., Wang, S., Schuster, E., Barrett, C., & Lehrer, D. (2015). Mindfulness based stress reduction (MBSR) for parents and caregivers of individuals with developmental disabilities: A community-based approach. Journal of Child and Family Studies, 24, 298–308. https://doi.org/10.1007/s10826-013-9836-9CrossRef

Beauchaine, T. P., & Constantino, J. N. (2017). Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity. Biomarkers in Medicine, 11, 769–780. https://doi.org/10.2217/bmm-2017-0002CrossRefPubMedPubMedCentral

Beauchaine, T. P., & Hinshaw, S. P. (2020). RDoC and psychopathology among youth: Misplaced assumptions and an agenda for future research. Journal of Clinical Child and Adolescent Psychology, 49, 322–340. https://doi.org/10.1080/15374416.2020.1750022CrossRefPubMedPubMedCentral

Betancur, C. (2011). Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain Research, 1380, 42–77. https://doi.org/10.1016/j.brainres.2010.11.078CrossRefPubMed

Chervin, R. D., Hedger, K., Dillon, J. E., & Pituch, K. J. (2000). Pediatric sleep questionnaire (PSQ): Validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems. Sleep Medicine, 1, 21–32. https://doi.org/10.1016/S1389-9457(99)00009-XCrossRefPubMed

Cohen, S., Fulcher, B. D., Rajaratnam, S. M. W., Conduit, R., Sullivan, J. P., St. Hilaire, M. A., & Lockley, S. W. (2018). Sleep patterns predictive of daytime challenging behavior in individuals with low-functioning autism. Autism Research, 11, 391–403. https://doi.org/10.1002/aur.1899CrossRefPubMed

Constantino, J. N. (2002). Social responsiveness scale – adult version (SRS). Los Angeles, CA: Western Psychological Services.

Constantino, J. N. & Gruber, C. P. (2005). Social responsiveness scale (SRS). Los Angeles, CA: Western Psychological Services.

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Green Snyder, L., Hippolyte, L., & Chung, W. K. (2016). Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry, 73, 20–30. https://doi.org/10.1001/jamapsychiatry.2015.2123CrossRefPubMedPubMedCentral

DiStefano, C., Zhu, M., & Mîndrilă, D. (2009). Understanding and using factor scores: Considerations for the applied researcher. Practical Assessment, Research and Evaluation, 14, 1–11. https://doi.org/10.7275/da8t-4g52CrossRef

Duyzend, M. H., & Eichler, E. E. (2015). Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism.” Biological Psychiatry, 77, 769–771. https://doi.org/10.1016/j.biopsych.2015.02.032CrossRefPubMedPubMedCentral

Elliott, C. D. (2007). Differential ability scales (2nd ed.). Harcourt Assessment Inc.

Esler, A. N., Hus Bal, V., Guthrie, W., Wetherby, A., Ellis Weismer, S., & Lord, C. (2015). The autism diagnostic observation schedule, toddler module: Standardized severity scores. Journal of Autism and Developmental Disorders, 45, 2704–2720. https://doi.org/10.1007/s10803-015-2432-7CrossRefPubMedPubMedCentral

España, R. A., & Scammell, T. E. (2011). Sleep neurobiology from a clinical perspective. Sleep, 34, 845–858. https://doi.org/10.5665/SLEEP.1112CrossRefPubMedPubMedCentral

Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., & Scherer, S. W. (2010). Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Journal of Medical Genetics, 47, 195–203. https://doi.org/10.1136/jmg.2009.069369CrossRefPubMed

Geschwind, D. H. (2008). Autism: Many genes, common pathways? Cell, 135, 391–395. https://doi.org/10.1016/j.cell.2008.10.016CrossRefPubMedPubMedCentral

Geschwind, D. H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Science, 15, 409–416. https://doi.org/10.1016/j.tics.2011.07.003CrossRef

Gold, A. K., & Sylvia, L. G. (2016). The role of sleep in bipolar disorder. Nature and Science of Sleep, 8, 207–214. https://doi.org/10.2147/NSS.S85754CrossRefPubMedPubMedCentral

Goldman, S. E., Richdale, A. L., Clemons, T., & Malow, B. A. (2012). Parental sleep concerns in autism spectrum disorders: Variations from childhood to adolescence. Journal of Autism and Developmental Disorders, 42, 531–538. https://doi.org/10.1007/s10803-011-1270-5CrossRefPubMed

Gotham, K., Pickles, A., & Lord, C. (2009). Standardizing ADOS scores for a measure of severity in autism spectrum disorders. Journal of Autism and Developmental Disorders, 39, 693–705. https://doi.org/10.1007/s10803-008-0674-3CrossRefPubMed

Graham, J. W. (2009). Missing data analysis: Making it work in the real world. Annual Review of Psychology, 60, 549–576. https://doi.org/10.1146/annurev.psych.58.110405.085530CrossRefPubMed

Green, E. K., Rees, E., Walters, J. T. R., Smith, K.-G., Forty, L., Grozeva, D., & Kirov, G. (2016). Copy number variation in bipolar disorder. Molecular Psychiatry, 21, 89–93. https://doi.org/10.1038/mp.2014.174CrossRefPubMed

Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Stevens Wallace, A., & Hanson, E. (2016). Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication. Journal of Autism and Developmental Disorders, 46, 2734–2748. https://doi.org/10.1007/s10803-016-2807-4CrossRefPubMed

Grondhuis, S. N., Lecavalier, L., Arnold, E., Handen, B. L., Scahill, L., McDougle, C. J., & Aman, M. G. (2018). Differences in verbal and nonverbal IQ test scores in children with autism spectrum disorder. Research in Autism Spectrum Disorders, 49, 47–55. https://doi.org/10.1016/j.rasd.2018.02.001CrossRef

Hallet, V., Lecavalier, L., Sukhodolsky, D. G., Cipriano, N., Aman, M. G., McCracken, J. T., & Scahill, L. (2013). Exploring the manifestations of anxiety in children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 43, 2341–2352. https://doi.org/10.1007/s10803-013-1775-1CrossRef

Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Green Snyder, L., & Chung, W. K. (2015). The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biological Psychiatry, 77, 785–793. https://doi.org/10.1016/j.biopsych.2014.04.021CrossRefPubMed

Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., & Miller, D. T. (2010). Cognitive and behavioral characterization of 16p11.2 deletion syndrome. Journal of Developmental and Behavioral Pediatrics, 31, 649–657. https://doi.org/10.1097/DBP.0b013e3181ea50edCrossRefPubMed

Harvey, A. G., Murray, G., Chandler, R. A., & Soehner, A. (2011). Sleep disturbance as transdiagnostic: Considerations of neurobiological mechanisms. Clinical Psychology Review, 31, 225–235. https://doi.org/10.1016/j.cpr.2010.04.003CrossRefPubMed

Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., & Jacquemont, S. (2016). The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition. Biological Psychiatry, 80, 129–139. https://doi.org/10.1016/j.biopsych.2015.10.021CrossRefPubMed

Hollway, J. A., Aman, M. G., & Butter, E. (2013). Correlates and risk markers for sleep disturbance in participants of the Autism Treatment Network. Journal of Autism and Developmental Disorders, 43, 2830–2843. https://doi.org/10.1007/s10803-013-1830-yCrossRefPubMed

Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E.E., Muthuswamy, L., & Mills, A. A. (2011). Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. PNAS, 108, 17076–17081. https://doi.org/10.1073/pnas.1114042108CrossRefPubMedPubMedCentral

Hus, V., & Lord, C. (2014). The Autism Diagnostic Observation Schedule, module 4: Revised algorithm and standardized severity scores. Journal of Autism and Developmental Disorders, 44, 1996–2012. https://doi.org/10.1007/s10803-014-2080-3CrossRefPubMedPubMedCentral

Ingersoll, B., & Hambrick, D. Z. (2011). The relationship between the broader autism phenotype, child severity, and stress and depression in parents of children with autism spectrum disorders. Research in Autism Spectrum Disorders, 5, 337–344. https://doi.org/10.1016/j.rasd.2010.04.017CrossRef

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., & Froguel, P. (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, 478, 97–102. https://doi.org/10.1038/nature10406CrossRefPubMedPubMedCentral

Johansson, A. E. E., Rohay, J. M., & Chasens, E. R. (2018). Psychometric properties of the simons simplex collection sleep interview. Journal of Nursing Measurement, 26, 453–469. https://doi.org/10.1891/1061-3749.26.3.453CrossRefPubMed

Kalkman, H. O. (2012). Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders. Neuroscience and Biobehavioral Reviews, 36, 2206–2213. https://doi.org/10.1016/j.neubiorev.2012.07.008CrossRefPubMed

Kamara, D., & Beauchaine, T. P. (2020). A review of sleep disturbances among infants and children with neurodevelopmental disorders. Review Journal of Autism and Developmental Disorders, 7, 278–294. https://doi.org/10.1007/s40489-019-00193-8CrossRefPubMed

Katz, T., Shui, A. M., Johnson, C. R., Richdale, A. L., Reynolds, A. M., Scahill, L., & Malow, B. A. (2018). Modification of the Children’s Sleep Habits Questionnaire for Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, 48, 2629–2641. https://doi.org/10.1016/j.sleep.2015.12.005CrossRefPubMed

Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., & Christian, S. L. (2008). Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics, 17, 628–638. https://doi.org/10.1093/hmg/ddm376CrossRefPubMed

Lecavalier, L. (2006). Behavioral and emotional problems in young people with pervasive developmental disorders: Relative prevalence, effects of subject characteristics, and empirical classification. Journal of Autism and Developmental Disorders, 36, 1101–1114. https://doi.org/10.1007/s10803-006-0147-5CrossRefPubMed

Limoges, É., Mottron, L., Bolduc, C., Berthiaume, C., & Godbout, R. (2005). Atypical sleep architecture and the autism phenotype. Brain, 128, 1049–1061. https://doi.org/10.1093/brain/awh425CrossRefPubMed

Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr., Leventhal, B. L., DiLavore, P. C., & Rutter, M. (2000). The Autism Diagnostic Observation Schedule – generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30, 205–223. https://doi.org/10.1023/A:1005592401947CrossRefPubMed

Lu, H.-C., Pollack, H., Lefante, J. J., Mills, A. A., & Tian, D. (2019). Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion. Sleep, 42, 1–16. https://doi.org/10.1093/sleep/zsy253CrossRef

Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., & Jacquemont, S. (2015). The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Molecular Psychiatry, 20, 140–147. https://doi.org/10.1038/mp.2014.145CrossRefPubMed

McCarthy, S., Makarov, V., Kirov, G., Addington, A., McClellan, J., Yoon, S., & Sebat, J. (2009). Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics, 41, 1223–1227. https://doi.org/10.1038/ng.474CrossRefPubMedPubMedCentral

Meltzer, L. J. (2017). Future directions in sleep and developmental psychopathology. Journal of Clinical Child and Adolescent Psychology, 46, 295–301. https://doi.org/10.1080/15374416.2016.1236727CrossRefPubMed

Meltzer, L. J., & Mindell, J. A. (2006). Sleep and sleep disorders in children and adolescents. Psychiatric Clinics of North America, 29, 1059–1076. https://doi.org/10.1016/j.psc.2006.08.004CrossRefPubMed

Meltzer, L. J., & Montgomery-Downs, H. E. (2011). Sleep in the family. Pediatric Clinics of North America, 58, 765–774. https://doi.org/10.1016/j.pcl.2011.03.010CrossRefPubMedPubMedCentral

Mong, J. A., & Cusmano, D. M. (2016). Sex differences in sleep: Impact of biological sex and sex steroids. Philosophical Transactions of the Royal Society of London, Series B, Biological Sciences, 371, 20150110. https://doi.org/10.1098/rstb.2015.0110CrossRefPubMed

Mullen, E. M. (1995). Mullen scales of early learning (AGS). American Guidance Service.

Owens, J. A., Spirito, A., & McGuinn, M. (2000). The Children’s Sleep Habits Questionnaire (CSHQ): Psychometric properties of a survey instrument for school-aged children. Sleep, 23, 1043–1052. https://doi.org/10.1037/t33022-000CrossRefPubMed

Pedhazur, E. J. (1997). Multiple regression in behavioral research (3rd ed.). Harcourt Brace.

Prinz, P. N., Vitiello, M. V., Raskind, M. A., & Thorpy, M. J. (1990). Sleep disorders and aging. New England Journal of Medicine, 323, 520–526. https://doi.org/10.1056/NEJM199008233230805CrossRefPubMed

Pucilowska, J., Vithayathil, J., Pagani, M., Kelly, C., Karlo, J. C., Robol, C., & Landreth, G. E. (2018). Pharmacological inhibition of ERK signaling rescues pathophysiology and behavioral phenotype associated with 16p11.2 chromosomal deletion in mice. The Journal of Neuroscience, 38, 6640–6652. https://doi.org/10.1523/JNEUROSCI.0515-17.2018CrossRefPubMedPubMedCentral

Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., & Buckner, R. L. (2014). Opposing brain differences in 16p11.2 deletion and duplication carriers. Neurobiology of Disease, 34, 11199–11211. https://doi.org/10.1523/JNEUROSCI.1366-14.2014CrossRef

Raudenbush, S. W., Bryk, A. S., Cheong, A. S., Fai, Y. F., Congdon, R. T., & du Toit, M. (2011). HLM 7: Hierarchical linear and nonlinear modeling. Lincolnwood, IL: Scientific Software International.

Reynolds, A. M., & Malow, B. A. (2011). Sleep and autism spectrum disorders. Pediatric Clinics of North America, 58, 685–698. https://doi.org/10.1007/s10803-013-1866-zCrossRefPubMed

Samuels, I. S., Saitta, S. C., & Landreth, G. E. (2009). MAP’ing CNS development and cognition: An ERKsome process. Neuron, 61, 160–167. https://doi.org/10.1016/j.neuron.2009.01.001CrossRefPubMedPubMedCentral

Simons VIP Consortium. (2012). Simons variation in individuals project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron, 73, 1063–1067. https://doi.org/10.1016/j.neuron.2012.02.014CrossRef

Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., & Stefansson, K. (2014). CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature, 505, 361–366. https://doi.org/10.1038/nature12818CrossRefPubMed

Tabet, A.-C., Pilorge, M., Delorme, R., Amsellem, F., Pinard, J.-M., Leboyer, M., & Betancur, C. (2012). Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. European Journal of Human Genetics, 20, 540–546. https://doi.org/10.1038/ejhg.2011.244CrossRefPubMedPubMedCentral

Thapar, A., & Cooper, M. (2013). Copy number variation: What is it and what has it taught us about child psychiatric disorders? Journal of the American Academy of Child & Adolescent Psychiatry, 52, 772–772. https://doi.org/10.1016/j.jaac.2013.05.013CrossRef

Tudor, M. E., Walsh, C. E., Mulder, E. C., & Lerner, M. D. (2015). Pain as a predictor of sleep problems in youth with autism spectrum disorders. Autism, 19, 1–9. https://doi.org/10.1177/1362361313518994CrossRef

Wechsler, D. (1999). Wechsler abbreviated scale of intelligence. The Psychological Corporation.

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., & Daly, M. J. (2008). Associations between microdeletion and microduplication at 16p11.2 and autism. The New England Journal of Medicine, 358, 667–675. https://doi.org/10.1056/NEJMoa075974CrossRefPubMed

Wiggs, L., & Stores, G. (2004). Sleep patterns and sleep disorders in children with autistic spectrum disorders: Insights using parent report and actigraphy. Developmental Medicine and Child Neurology, 46, 372–380. https://doi.org/10.1017/S0012162204000611CrossRefPubMed

Williams, P. G., Sears, L. L., & Allard, A. (2004). Sleep problems in children with autism. Journal of Sleep Research, 13, 265–268. https://doi.org/10.1111/j.1365-2869.2004.00405.xCrossRef

Titel: Characterizing Sleep Problems in 16p11.2 Deletion and Duplication
Auteurs: Dana Kamara
Paul De Boeck
Luc Lecavalier
Emily Neuhaus
Theodore P. Beauchaine
Publicatiedatum: 11-10-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 4/2023
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-05311-2

Andere artikelen Uitgave 4/2023

Brief Report: Links Between Nonconformity to Gender Norms, Autistic Features, and Internalizing Symptoms in a Non-clinical College Sample

Brief Report

Revisiting the Relationship between Cybercrime, Autistic Traits, and Autism

Original Paper

Does Treatment Fidelity of the Early Start Denver Model Impact Skill Acquisition in Young Children with Autism?

Original Paper

Psychometric Assessment of the Eyberg Child Behavior Inventory in Children with Autism in Community Settings

Original Paper

Correction to: Insomnia in Children with Autism Spectrum Disorder: A Cross-Sectional Study on Clinical Correlates and Parental Stress

Correction

Treatment Acceptability for Interventions Addressing Challenging Behavior Among Chinese Caregivers of Children with Autism Spectrum Disorder

Original Paper