Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet. 2005;133 A:309–17. https://doi.org/10.1002/ajmg.a.30560.
Pagon RA, Graham JM, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981;99:223–7. https://doi.org/10.1016/S0022-3476(81)80454-4.
CAS Article PubMed Google Scholar
Blake KD, Davenport SLH, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. Charge association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998;37:159–74. https://doi.org/10.1177/000992289803700302.
Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet. 2005;133:A:306–8. https://doi.org/10.1002/ajmg.a.30559.
Hale CL, Niederriter AN, Green GE, Martin DM. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet Part A. 2016;170:344–54. https://doi.org/10.1002/ajmg.a.37435.
Vissers LELM, Van Ravenswaaij CMA, Admiraal R, Hurst JA, De Vries BBA, Janssen IM, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955–7.
Basson MA, van Ravenswaaij-Arts C. Functional insights into chromatin remodelling from studies on CHARGE syndrome. Trends Genet. 2015;31:600–11. https://doi.org/10.1016/j.tig.2015.05.009.
CAS Article PubMed PubMed Central Google Scholar
Bergman JEH, Janssen N, Hoefsloot LH, Jongmans MCJ, Hofstra RMW, van Ravenswaaij-Arts CMA. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011;48:334–42. https://doi.org/10.1136/jmg.2010.087106.
CAS Article PubMed Google Scholar
Jongmans MCJ, Admiraal RJ, van der Donk KP, Vissers LELM, Baas AF, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006;43:306–14. https://doi.org/10.1136/jmg.2005.036061.
CAS Article PubMed Google Scholar
Legendre M, Abadie V, Attie-Bitach T, Philip N, Busa T, Bonneau D, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet Part C Semin Med Genet. 2017;175:417–30. https://doi.org/10.1002/ajmg.c.31591.
CAS Article PubMed Google Scholar
Meisner JK, Martin DM. Congenital heart defects in CHARGE: the molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet Part C Semin Med Genet. 2020;184:81–9. https://doi.org/10.1002/ajmg.c.31761.
Trider CL, Arra-Robar A, van Ravenswaaij-Arts C, Blake K. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). Am J Med Genet Part A. 2017;173:684–91. https://doi.org/10.1002/ajmg.a.38085.
La Spata MG. Assessment and intervention for individuals with CHARGE syndrome. J Heal Serv Psychol. 2019;45:58–64.
Abadie V, Hamiaux P, Ragot S, Legendre M, Malecot G, Burtin A, et al. Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients. Orphanet J Rare Dis. 2020;15. https://doi.org/10.1186/s13023-020-01421-9.
Johansson M, Gillberg C, Råstam M. Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects. Res Dev Disabil. 2010;31:9–24. https://doi.org/10.1016/j.ridd.2009.07.011.
Wulffaert J, Scholte EM, Dijkxhoorn YM, Bergman JEH, van Ravenswaaij-Arts CMA, van Berckelaer-Onnes IA. Parenting stress in CHARGE syndrome and the relationship with child characteristics. J Dev Phys Disabil. 2009;21(4):301–13.
Hartshorne N, Hudson A, MacCuspie J, Kennert B, Nacarato T, Hartshorne T, et al. Quality of life in adolescents and adults with CHARGE syndrome. Am J Med Genet Part A. 2016;170:2012–21. https://doi.org/10.1002/ajmg.a.37769.
Blake KD, Salem-Hartshorne N, Daoud MA, Gradstein J. Adolescent and adult issues in CHARGE syndrome. Clin Pediatr (Phila). 2005;44:151–9. https://doi.org/10.1177/000992280504400207.
Wachtel LE, Hartshorne TS, Dailor AN. Psychiatric diagnoses and psychotropic medications in CHARGE syndrome: a pediatric survey. J Dev Phys Disabil. 2007;19:471–83. https://doi.org/10.1007/s10882-007-9064-6.
Page MJ, Moher D, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. PRISMA 2020 explanation and elaboration: updated guidance and exemplars for reporting systematic reviews. BMJ. 2021;372. https://doi.org/10.1136/bmj.n160.
Thomas A, Waite J, Williams C, Oliver C, Richards C. Supplementary materials for the manuscript phenotypic characteristics and variability in CHARGE syndrome: a PRISMA-compliant systematic review and meta-analysis. Mendeley Data. 2021;V6. https://doi.org/10.17632/29kyrfy2dr.6.
Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. CHARGE syndrome: a review. J Paediatr Child Health. 2014;50:504–11. https://doi.org/10.1111/jpc.12497.
van Ravenswaaij-Arts C, Martin DM. New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. Am J Med Genet C Semin Med Genet. 2017;175:397–406. https://doi.org/10.1002/ajmg.c.31592.
Article PubMed PubMed Central Google Scholar
Richards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry. 2015;2:909–16. https://doi.org/10.1016/S2215-0366(15)00376-4.
Surtees ADR, Oliver C, Jones CA, Evans DL, Richards C. Sleep duration and sleep quality in people with and without intellectual disability: a meta-analysis. Sleep Med Rev. 2018;40:135–50. https://doi.org/10.1016/j.smrv.2017.11.003.
Moss J, Oliver C. The repetitive behaviour scale. Manual for administration and scorer interpretation; 2008.
Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24:659–85. https://doi.org/10.1007/BF02172145.
CAS Article PubMed Google Scholar
Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, Dilavore PC, et al. The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30:205–23.
Sparrow S, Cicchetti D, Saulnier C. Vineland-3: vineland adaptive behavior scales. 3rd ed. Toronto: PsychCorp; 2016.
Bayley N. Bayley scales of infant development. 2nd ed. San Antonio: The Psychological Corp; 1993.
Bruni O, Ottaviano S, Guidetti V, Romoli M, Innocenzi M, Cortesi F, et al. The Sleep Disturbance Scale for Children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. J Sleep Res. 1996;5:251–61.
Borenstein M, Hedges LV, Higgins JPT, Rothstein HR. A basic introduction to fixed-effect and random-effects models for meta-analysis. Res Synth Methods. 2010;1:97–111. https://doi.org/10.1002/jrsm.12.
Dersimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177–88 https://www.sciencedirect.com/science/article/pii/0197245686900462. Accessed 15 May 2021.
Cheung MWL. Implementing restricted maximum likelihood estimation in structural equation models. Struct Equ Model. 2013;20:157–67. https://doi.org/10.1080/10705511.2013.742404.
Follmann DA, Proschan MA. Valid inference in random effects meta-analysis. Biometrics. 1999;55:732–7.
Higgins JPT, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. Br Med J. 2003;327:557–60. https://doi.org/10.1136/bmj.327.7414.557.
Baujat B, Mahé C, Pignon J, medicine CH-S in, 2002 undefined. A graphical method for exploring heterogeneity in meta-analyses: application to a meta-analysis of 65 trials. Wiley Online Libr. 2002;21:2641–52. https://doi.org/10.1002/sim.1221.
Rosenthal R. The file drawer problem and tolerance for null results. Psychol Bull. 1979;86:638–41. https://doi.org/10.1037/0033-2909.86.3.638.
Schild AHE, Voracek M. Finding your way out of the forest without a trail of bread crumbs: development and evaluation of two novel displays of forest plots. Res Synth Methods. 2015;6:74–86. https://doi.org/10.1002/jrsm.1125.
Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B. 1995;57:289–300.
Asher BF, McGill TJ, Kaplan L, Friedman EM, Healy GB. Airway complications in CHARGE association. Arch Otolaryngol - Head Neck Surg. 1990;116:15 http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=reference&D=emed4&NEWS=N&AN=20045463.
Bernstein V, Denno LS. Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options. Am J Med Genet. 2005;133A:232–9. https://doi.org/10.1002/ajmg.a.30542.
Blake KD, Brown D. CHARGE association looking at the future--the voice of a family support group. Child Care Health Dev. 1993;19:395–409 http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=reference&D=emed5&NEWS=N&AN=127249873.
Blake KD, Russell-Eggitt IM, Morgan DW, Ratcliffe JM, Wyse RK. Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child. 1990;65:217–23 http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=reference&D=emed4&NEWS=N&AN=20057815.
Cheng SSW, Luk H-M, Chan DKH, Lo IFM. CHARGE syndrome in nine patients from China. Am J Med Genet Part A. 2020;182:15–9. https://doi.org/10.1002/ajmg.a.61398.
CAS Article PubMed Google Scholar
Dammeyer J. Development and characteristics of children with Usher syndrome and CHARGE syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1292–6. https://doi.org/10.1016/j.ijporl.2012.05.021.
Davenport SLH, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet. 1986;29:298–310.
Deuce G, Howard S, Rose S, Fuggle C. A study of CHARGE Syndrome in the UK. Br J Vis Impair. 2012;30:91–100. https://doi.org/10.1177/0264619612443883.
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