Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance

Singh K, Zimmerman AW. Sleep in autism spectrum disorder and attention deficit hyperactivity disorder. Semin Pediatr Neurol. 2015;22:113–25. https://doi.org/10.1016/j.spen.2015.03.006 Elsevier.

Article  PubMed  Google Scholar 

Hertenstein E, Feige B, Gmeiner T, Kienzler C, Spiegelhalder K, Johann A, et al. Insomnia as a predictor of mental disorders: a systematic review and meta-analysis. Sleep Med Rev. 2019;43:96–105.

PubMed  Article  Google Scholar 

Mollon J, Knowles EEM, Mathias SR, Gur R, Peralta JM, Weiner DJ, et al. Genetic influence on cognitive development between childhood and adulthood. Mol Psychiatry. 2018. https://doi.org/10.1038/s41380-018-0277-0 Springer US.

Hvolby A. Associations of sleep disturbance with ADHD: implications for treatment. ADHD Atten Deficit Hyperact Disord. 2015;7:1–18.

Article  Google Scholar 

Waters F, Chiu V, Atkinson A, Blom JD. Severe sleep deprivation causes hallucinations and a gradual progression toward psychosis with increasing time awake. Front Psychiatry. 2018;9:303.

Chiu VW, Ree M, Janca A, Iyyalol R, Dragovic M, Waters F. Sleep profiles and CBT-I response in schizophrenia and related psychoses. Psychiatry Res. 2018;268:279–87. https://doi.org/10.1016/j.psychres.2018.07.027 [Internet]. Elsevier Ireland Ltd.

Article  PubMed  Google Scholar 

Myers E, Startup H, Freeman D. Cognitive behavioural treatment of insomnia in individuals with persistent persecutory delusions: a pilot trial. J Behav Ther Exp Psychiatry. 2011;42:330–6. https://doi.org/10.1016/j.jbtep.2011.02.004 [Internet]. Elsevier Ltd.

Article  PubMed  PubMed Central  Google Scholar 

Freeman D, Sheaves B, Goodwin GM, Yu LM, Nickless A, Harrison PJ, et al. The effects of improving sleep on mental health (OASIS): a randomised controlled trial with mediation analysis. Lancet Psychiatry. 2017;4:749–58. https://doi.org/10.1016/S2215-0366(17)30328-0 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.

Article  PubMed  PubMed Central  Google Scholar 

Yuge K, Nagamitsu S, Ishikawa Y, Hamada I, Takahashi H, Sugioka H, et al. Long-term melatonin treatment for the sleep problems and aberrant behaviors of children with neurodevelopmental disorders. BMC Psychiatry. 2020;20:1–14.

Article  CAS  Google Scholar 

Papadopoulos N, Sciberras E, Hiscock H, Mulraney M, McGillivray J, Rinehart N. The efficacy of a brief behavioral sleep intervention in school-aged children with ADHD and comorbid autism spectrum disorder. J Atten Disord. 2019;23:341–50.

PubMed  Article  Google Scholar 

Malow B, Adkins KW, McGrew SG, Wang L, Goldman SE, Fawkes D, et al. Melatonin for sleep in children with autism: a controlled trial examining dose, tolerability, and outcomes. J Autism Dev Disord. 2012;42:1729–37.

PubMed  PubMed Central  Article  Google Scholar 

Schroder CM, Malow BA, Maras A, Melmed RD, Findling RL, Breddy J, et al. Pediatric prolonged-release melatonin for sleep in children with autism spectrum disorder: impact on child behavior and caregiver’s quality of life. J Autism Dev Disord. 2019;49:3218–30.

PubMed  PubMed Central  Article  Google Scholar 

Lindor E, Sivaratnam C, May T, Stefanac N, Howells K, Rinehart N. Problem behavior in autism spectrum disorder: considering core symptom severity and accompanying sleep disturbance. Front Psychiatry. 2019;10:1–10.

Article  Google Scholar 

Elkhatib Smidt SD, Ghorai A, Taylor SC, Gehringer BN, Dow HC, Langer A, et al. The relationship between autism spectrum and sleep–wake traits. Autism Res. 2022;15:641–52. https://doi.org/10.1002/aur.2660 John Wiley & Sons, Ltd.

Article  PubMed  Google Scholar 

Tsai T-H, Chen Y-L, Gau SS-F. Relationships between autistic traits, insufficient sleep, and real-world executive functions in children: a mediation analysis of a national epidemiological survey. Psychol Med. 2019;51:579–86.

Dayyat EA, Spruyt K, Molfese DL, Gozal D. Sleep estimates in children: parental versus actigraphic assessments. Nat Sci Sleep. 2011;3:115–23.

PubMed  PubMed Central  Google Scholar 

Li L, Sheehan CM, Valiente C, Eisenberg N, Doane LD, Spinrad TL, et al. Similarities and differences between actigraphy and parent-reported sleep in a Hispanic and non-Hispanic White sample. Sleep Med. 2021;83:160–7 https://www.sciencedirect.com/science/article/pii/S1389945721002641.

PubMed  PubMed Central  Article  Google Scholar 

Mazza S, Bastuji H, Rey AE. Objective and subjective assessments of sleep in children: comparison of actigraphy, sleep diary completed by children and parents’ estimation. Front psychiatry. 2020;11:495 https://pubmed.ncbi.nlm.nih.gov/32587532. [Internet]. Frontiers Media S.A.

PubMed  PubMed Central  Article  Google Scholar 

Holzhausen EA, Hagen EW, LeCaire T, Cadmus-Bertram L, Malecki KC, Peppard PE. A comparison of self- and proxy-reported subjective sleep durations with objective actigraphy measurements in a survey of Wisconsin children 6-17 years of age. Am J Epidemiol. 2021;190:755–65.

PubMed  Article  Google Scholar 

Combs D, Goodwin JL, Quan SF, Morgan WJ, Hsu CH, Edgin JO, et al. Mother knows best? Comparing child report and parent report of sleep parameters with polysomnography. J Clin Sleep Med. 2019;15:111–7.

PubMed  PubMed Central  Article  Google Scholar 

Iwasaki M, Iwata S, Iemura A, Yamashita N, Tomino Y, Anme T, et al. Utility of subjective sleep assessment tools for healthy preschool children: a comparative study between sleep logs, questionnaires, and actigraphy. J Epidemiol. 2010;20:143–9.

PubMed  PubMed Central  Article  Google Scholar 

Guna A, Butcher NJ, Bassett AS. Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms. J Neurodev Disord. 2015;7. https://doi.org/10.1186/s11689-015-9113-x.

Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, et al. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. Lancet Psychiatry. 2018;5:573–80.

PubMed  PubMed Central  Article  Google Scholar 

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22Q11.2 Deletion Syndrome. Nat Rev Dis Prim. 2015;1:15071.

Schneider M, Debbané M, Bassett AS, Chow EWC, Fung WLA, Van Den Bree MBM, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry. 2014;171:627–39.

PubMed  PubMed Central  Article  Google Scholar 

Malhotra D, Sebat J. CNVs: Harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012;148:1223–41. https://doi.org/10.1016/j.cell.2012.02.039 [Internet]. Elsevier Inc.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Green T, Gothelf D, Glaser B, Debbane M, Frisch A, Kotler M, et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry. 2009;48:1060–8.

PubMed  Article  Google Scholar 

Chow EWC, Watson M, Young DA, Bassett AS. Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr Res. 2006;87:270–8.

PubMed  PubMed Central  Article  Google Scholar 

Rees E, Kendall K, Europe PMC Funders Group. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry. 2017;73:963–9.

Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, et al. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017;49:27–35.

CAS  PubMed  Article  Google Scholar 

Hemmings CP. Schizophrenia spectrum disorders in people with intellectual disabilities. Curr Opin Psychiatry. 2006;19:470–4.

PubMed  Article  Google Scholar 

Rees E, Kirov G, Sanders A, Walters JTR, Chambert KD, Shi J, et al. Evidence that duplications of 22q11.2 protect against schizophrenia. Mol Psychiatry. 2014;19:37–40.

CAS  PubMed  Article  Google Scholar 

Li Z, Chen J, Xu Y, Yi Q, Ji W, Wang P, et al. Genome-wide analysis of the role of copy number variation in schizophrenia risk in Chinese. Biol Psychiatry. 2016;80:331–7.

PubMed  Article  Google Scholar 

Lin A, Ching CRK, Vajdi A, Sun D, Jonas RK, Jalbrzikowski M, et al. Mapping 22q11.2 gene dosage effects on brain morphometry. J Neurosci. 2017;37:6183–99.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Lin A, Vajdi A, Kushan-Wells L, Helleman G, Hansen LP, Jonas RK, et al. Reciprocal copy number variations at 22q11.2 produce distinct and convergent neurobehavioral impairments relevant for schizophrenia and autism spectrum disorder. Biol Psychiatry. 2020;88:260–72. https://doi.org/10.1016/j.biopsych.2019.12.028 Elsevier Inc.

Article  PubMed  PubMed Central  Google Scholar 

Yirmiya ET, Mekori-Domachevsky E, Weinberger R, Taler M, Carmel M, Gothelf D. Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome. Am J Med Genet Part A. 2020;182:461–8.

CAS  PubMed  Article  Google Scholar 

Moulding HA, Bartsch U, Hall J, Jones MW, Linden DE, Owen MJ, et al. Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS).Psychol Med. 2020;50:1191–202.

Arganbright JM, Tracy M, Hughes SS, Ingram DG. Sleep patterns and problems among children with 22q11 deletion syndrome. Mol Genet Genomic Med. 2020;8:1–8.

Article  CAS  Google Scholar 

Hyde J, Eidels A, van Amelsvoort T, Myin-Germeys I, Campbell L. Gene deletion and sleep depletion: exploring the relationship between sleep and affect in 22q11.2 deletion syndrome. J Genet Psychol. 2021;182:304–16.

Lunsford-Avery JR, Dean DJ, Mittal VA. Self-reported sleep disturbances associated with procedural learning impairment in adolescents at ultra-high risk for psychosis. Schizophr Res. 2017;190:160–3 https://www.sciencedirect.com/science/article/pii/S0920996417301627.

PubMed  PubMed Central  Article  Google Scholar 

Lunsford-Avery JR, Orr JM, Gupta T, Pelletier-Baldelli A, Dean DJ, Smith Watts AK, et al. Sleep dysfunction and thalamic abnormalities in adolescents at ultra high-risk for psychosis. Schizophr Res. 2013;151:148–53.

PubMed  Article  Google Scholar 

Malow BA, Marzec ML, McGrew SG, Wang L, Henderson LM, Stone WL. Characterizing sleep in children with autism spectrum disorders: a multidimensional approach. Sleep. 2006;29:1563–71.

PubMed  Article  Google Scholar 

Jalbrzikowski M, Ahmed KH, Patel A, Jonas R, Chow C, Bearden CE, et al. Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome; 2018. p. 1–26.

Google Scholar 

Hundley RJ, Shui A, Malow BA. Relationship between subtypes of restricted and repetitive behaviors and sleep disturbance in autism spectrum disorder. J Autism Dev Disord. 2016;46:3448–57 Springer US.

PubMed  Article  Google Scholar 

Lunsford-Avery JR, LeBourgeois MK, Gupta T, Mittal VA. Actigraphic-measured sleep disturbance predicts increased positive symptoms in adolescents at ultra high-risk for psychosis: a longitudinal study. Schizophr Res. 2015;164:15–20. https://doi.org/10.1016/j.schres.2015.03.013 [Internet]. Elsevier B.V.

Article  PubMed  PubMed Central 

留言 (0)

沒有登入
gif