Behavioral profiles in Rett syndrome: Data from the natural history study

Brain and Development - Tập 41 - Trang 123-134 - 2019
Caroline B. Buchanan1, Jennifer L. Stallworth1, Alexandra E. Scott1, Daniel G. Glaze2, Jane B. Lane3, Steven A. Skinner1, Aubin E. Tierney1, Alan K. Percy4, Jeffrey L. Neul5, Walter E. Kaufmann1,6,7
1Greenwood Genetic Center, SC, United States
2Baylor College of Medicine, Department of Pediatrics and Neurology, TX, United States
3University of Alabama at Birmingham, Civitan International Research Center, Alabama, AL, United States
4University of Alabama at Birmingham, Department of Pediatrics, Civitan International Research Center, AL, United States
5Vanderbilt Kennedy Center, Vanderbilt University Medical Center, TN, United States
6University of South Carolina School of Medicine, Department of Pediatrics, SC, United States
7Emory University School of Medicine, Department of Human Genetics, GA, United States

Tài liệu tham khảo

Fehr, 2011, Trends in the diagnosis of Rett syndrome in Australia, Pediatr Res, 70, 313, 10.1203/PDR.0b013e3182242461 Cuddapah, 2014, Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome, J Med Genet, 51, 152, 10.1136/jmedgenet-2013-102113 Kaufmann, 2005, MeCP2 expression and function during brain development: implications for Rett syndrome’s pathogenesis and clinical evolution, Brain Dev, 27, 10.1016/j.braindev.2004.10.008 Neul, 2010, Rett syndrome: revised diagnostic criteria and nomenclature, Ann Neurol, 68, 944, 10.1002/ana.22124 Anderson, 2014, Twenty years of surveillance in Rett syndrome: what does this tell us?, Orphanet J Rare Dis, 9, 10.1186/1750-1172-9-87 Barnes, 2015, Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales, J Neurodevelop Disorders, 7, 30, 10.1186/s11689-015-9127-4 Cianfaglione, 2015, A national survey of Rett syndrome: behavioural characteristics, J Neurodevelop Disorders, 7, 11, 10.1186/s11689-015-9104-y Mount, 2002, The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome, J Child Psychol Psychiatry, 43, 1099, 10.1111/1469-7610.00236 Young, 2008, The diagnosis of autism in a female: could it be Rett syndrome?, Eur J Pediatr, 167, 661, 10.1007/s00431-007-0569-x American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. (DSM-5). Washington, D.C.: American Psychiatric Publishing; 2013. Buchanan-Pascall, 2018, Systematic review and meta-analysis of parent group interventions for primary school children aged 4–12 years with externalizing and/or internalizing problems, Child Psychiatry Hum Dev, 49, 244, 10.1007/s10578-017-0745-9 Dal Canto, 2018, Internalizing and externalizing symptoms in preschool and school-aged children with epilepsy: focus on clinical and EEG features, Epilepsy Behav, 79, 68, 10.1016/j.yebeh.2017.10.004 Grieco, 2015, Down syndrome: cognitive and behavioral functioning across the lifespan, Am J Med Genet C Semin Med Genet, 169, 135, 10.1002/ajmg.c.31439 Stratis, 2015, Informant agreement for youth with autism spectrum disorder or intellectual disability: a meta-analysis, J Autism Dev Disord, 45, 1026, 10.1007/s10803-014-2258-8 Visootsak, 2007, Neuropsychiatric and behavioral aspects of trisomy 21, Curr Psychiatry Rep, 9, 135, 10.1007/s11920-007-0083-x Coleman, 1988, Rett syndrome: a survey of North American patients, J Ment Def Res, 32, 117 Esbensen, 2003, Reliability and validity of an assessment instrument for anxiety, depression, and mood among individuals with mental retardation, J Autism Dev Disord, 33, 10.1023/B:JADD.0000005999.27178.55 Halbach, 2008, Aging in people with specific genetic syndromes: Rett syndrome, Am J Med Genet A, 146A, 10.1002/ajmg.a.32361 Mount, 2001, Behavioural and emotional features in Rett syndrome, Disabil Rehabil, 23 Naidu, 1986, Rett syndrome–natural history in 70 cases, Am J Med Genet Suppl, 1, 61, 10.1002/ajmg.1320250507 Robertson, 2006, The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database, Am J Med Genet B Neuropsychiatr Genet, 141B, 10.1002/ajmg.b.30270 Sansom, 1993, Emotional and behavioural aspects of Rett syndrome, Dev Med Child Neurol, 35, 340, 10.1111/j.1469-8749.1993.tb11646.x Sansone, 2012, Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment, J Autism Dev Disord, 42, 1377, 10.1007/s10803-011-1370-2 Ross, 2002, The relationship between levels of mood, interest and pleasure and 'challenging behaviour' in adults with severe and profound intellectual disability, J Intellect Disabil Res, 46, 191, 10.1046/j.1365-2788.2002.00397.x Vos, 2010, What makes them feel like they do? Investigating the subjective well-being in people with severe and profound disabilities, Res Dev Disabil, 31, 10.1016/j.ridd.2010.04.021 Tarquinio, 2017, Longitudinal course of epilepsy in Rett syndrome and related disorders, Brain, 140, 306, 10.1093/brain/aww302 Neul, 2014, Developmental delay in Rett syndrome: data from the natural history study, J Neurodev Disord, 6, 20, 10.1186/1866-1955-6-20 Killian, 2016, Caretaker quality of life in Rett syndrome: disorder features and psychological predictors, Pediatr Neurol, 58, 67, 10.1016/j.pediatrneurol.2015.12.021 Lane, 2011, Clinical severity and quality of life in children and adolescents with Rett syndrome, Neurology, 77, 1812, 10.1212/WNL.0b013e3182377dd2 Tarquinio, 2015, The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders, Pediatr Neurol, 53, 402, 10.1016/j.pediatrneurol.2015.06.003 HealthActCHQ, 2013