Speech and language characteristics in Smith–Magenis syndrome: Case report

Referencias bibliográficas

• Alaimo et al., 2015 J.T. Alaimo, L.V. Barton, S.V. Mullegama, R.D. Wills, R.H. Foster, S.H. Elsea Individuals with Smith–Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader–Willi syndrome Research in Developmental Disabilities, 47 (2015), pp. 27-38, 10.1016/j.ridd.2015.08.011
• Angriman et al., 2015 M. Angriman, B. Caravale, L. Novelli, R. Ferri, O. Bruni Sleep in children with neurodevelopmental disabilities Neuropediatrics, 46 (03) (2015), pp. 199-210, 10.1055/s-0035-1550151
• Bissell et al., 2018 S. Bissell, L. Wilde, C. Richards, J. Moss, C. Oliver The behavioural phenotype of Potocki–Lupski syndrome: A cross-syndrome comparison Journal of Neurodevelopmental Disorders, 10 (1) (2018), pp. 2-9, 10.1186/s11689-017-9221-x
• Boehm, 2001 A.E. Boehm Boehm test of basic concepts (3rd edition), The Psychological Corporation, San Antonio, TX (2001)
• Brendal et al., 2017 M.A. Brendal, K.A. King, C.K. Zalewski, B.M. Finucane, W. Introne, C.C. Brewer, et al. Auditory phenotype of Smith–Magenis syndrome Journal of Speech, Language, and Hearing Research, 60 (4) (2017), pp. 1076-1087, 10.1044/2016_JSLHR-H-16-0024
• Capovilla and Capovilla, 1997 F.C. Capovilla, A.G.S. Capovilla Desenvolvimento linguístico na criança dos dois aos seis anos: tradução e estandardização do Peabody Picture Vocabulary Test de Dunn & Dunn, e da Language Development Survey, deRescorla Ciência Cognitiva: Teoria, Pesquisa e Aplicação, 1 (1) (1997), pp. 353-380
• Capovilla et al., 1997 F.C. Capovilla, A.G. Capovilla, L.R. Nunes, I. Araújo, D.R. Nunes, D. Nogueira, et al. Versão brasileira do Teste de Vocabulário por Imagens Peabody Disturbios da comunicação, 8 (2) (1997), pp. 151-162
• De Renzi and Vignolo, 1962 E. De Renzi, L.A. Vignolo The Token test: A sensitive test to detect receptive disturbances in aphasics Brain, 85 (4) (1962), pp. 665-678, 10.1093/brain/85.4.665
• Dykens et al., 1997 E.M. Dykens, B.M. Finucane, C. Gayley Brief report: Cognitive and behavioral profiles in persons with Smith–Magenis syndrome Journal of Autism and Developmental Disorders, 27 (2) (1997), pp. 203-211
• Elsea and Girirajan, 2008 S.H. Elsea, S. Girirajan Smith–Magenis syndrome European Journal of Human Genetics, 16 (2008), pp. 412-421
• Elsea and Girirajan, 2009 S.H. Elsea, S. Girirajan Smith–Magenis syndrome F. Lang (Ed.), Encyclopedia of molecular mechanisms of disease, Springer, Berlin (2009), pp. 1947-1948
• Gamba et al., 2011 B.F. Gamba, G.H. Vieira, D.H. Souza, F.F. Monteiro, J.J. Lorenzini, D.R. Carvalho, et al. Smith–Magenis syndrome: Clinical evaluation in seven Brazilian patients Genetics and Molecular Research, 10 (4) (2011), pp. 2664-2670, 10.4238/2011.October.31.17
• Garayzábal and Moruno, 2009 E. Garayzábal, E. Moruno “Frog, where are you”? Story performance in two rare genetic conditions: Williams syndrome and Smith–Magenis syndrome V. Marerro, I. Pineda (Eds.), La lingüística ante el reto de la aplicación clínica, Euphonia Ediciones, Madrid (2009), pp. 359-365
• Garayzábal et al., 2011 E. Garayzábal, V.M. Lens, L.E. Moruno, M.T. Conde, L.F. Moura, M. Fernández, et al. General cognitive functioning and psycholinguistic abilities in children with Smith–Magenis syndrome Psicothema, 23 (4) (2011), pp. 725-731
• Garayzábal and Lens, 2013 E. Garayzábal, M. Lens Guía de intervención logopédica en el síndrome de Smith-Magenis Síntesis, Madrid (2013)
• Garayzábal et al., 2014 E. Garayzábal, A. Osório, M. Lens, A. Sampaio Concrete and relational vocabulary: Comparison between Williams and Smith–Magenis syndromes Research in Developmental Disabilities, 35 (12) (2014), pp. 3365-3371, 10.1016/j.ridd.2014.07.055 Gnanavel, 2014 S.
• Gnanavel Smith–Magneis syndrome: Behavioural phenotype mimics ADHD BMJ Case Reports (2014), 10.1136/bcr-2013-201766 bcr2013201766
• Greenberg et al., 1991 F. Greenberg, V. Guzzetta, R.M. de Oca-Luna, R.E. Magenis, A.C. Smith, S.F. Richter, et al. Molecular analysis of the Smith–Magenis syndrome: A possible contiguous-gene syndrome associated with del (17)(p11. 2) American Journal of Human Genetics, 49 (6) (1991), pp. 1207-1218
• Greenberg et al., 1996 F. Greenberg, R.A. Lewis, L. Potocki, D. Glaze, J. Parke, J. Killian, et al. Multi-disciplinary clinical study of Smith–Magenis syndrome (deletion 17p11. 2) American Journal of Medical Genetics, 62 (3) (1996), pp. 247-254, 10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q
• Gropman et al., 2006 A.L. Gropman, W.C. Duncan, A.C. Smith Neurologic and developmental features of the Smith–Magenis syndrome (del 17p11. 2) Pediatric Neurology, 34 (5) (2006), pp. 337-350, 10.1016/j.pediatrneurol.2005.08.018
• Guérin Moreau et al., 2015 M. Guérin Moreau, E. Colin, S. Nguyen, J. Andrieux, H. Leersnyder, D. Bonneau, et al. Dermatologic features of Smith–Magenis syndrome Pediatric Dermatology, 32 (3) (2015), pp. 337-341, 10.1111/pde.12517
• Gupta et al., 2016 R. Gupta, N. Gupta, S. Nampoothiri, K. Mandal, Y. Kishore, P. Sharma, et al. Smith–Magenis syndrome: Face speaks The Indian Journal of Pediatrics, 83 (6) (2016), pp. 589-593, 10.1007/s12098-015-1940-
• Hidalgo and Garayzábal, 2019 I. Hidalgo, E. Garayzábal Diferencias fonológicas entre síndromes del neurodesarrollo: evidencias a partir de los procesos de simplificación fonológica más frecuentes Revista de Investigación en Logopedia, 9 (2) (2019), pp. 81-106, 10.5209/rlog.62942
• Howlin and Udwin, 2002 P. Howlin, O. Udwin Outcomes in neurodevelopmental and genetic disorders Cambridge University Press (2002)
• Hughes et al., 1997 D.L. Hughes, L. McGillivray, M. Schmidek Guide to narrative language: Procedures for assessment Thinking Publications, Eau Claire, WI (1997)
• Laje et al., 2010 G. Laje, R. Morse, W. Richter, J. Ball, A. Smith Autism spectrum features in Smith–Magenis syndrome American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 154 (2010), pp. 456-462, 10.1002/ajmg.c.30275
• Lamônica et al., 2012 D. Lamônica, G. Silva, R. Furlan, D. Abramides, G. Vieira, D. Moretti-Ferreira, et al. Clinical, cognitive, behavioral and communicative features of Smith–Magenis syndrome Revista CEFAC, 14 (6) (2012), pp. 1226-1233, 10.1590/S1516-18462011005000118
• Mayer, 1969 M. Mayer Frog, where are you? Dial Press, New York (1969)
• Mendoza et al., 2005 E. Mendoza, G. Carballo, J. Muñoz, M.D. Fresneda Test de Comprensión de Estructuras Gramaticales (CEG) TEA, Madrid (2005)
• Nag et al., 2018 H.E. Nag, A. Nordgren, B.M. Anderlid, T. Nærland Reversed gender ratio of autism spectrum disorder in Smith–Magenis syndrome Molecular Autism, 9 (1) (2018), pp. 1-9, 10.1186/s13229-017-0184-2
• Nascimento, 2004 E. Nascimento Adaptação validação e normatização do WAIS-III para uma amostra brasileira Casa do Psicólogo, São Paulo (2004)
• Osório et al., 2012 A. Osório, R. Cruz, A. Sampaio, E. Garayzábal, Á. Carracedo, M. Fernández-Prieto Cognitive functioning in children and adults with Smith–Magenis syndrome European Journal of Medical Genetics, 55 (6) (2012), pp. 394-399, 10.1016/j.ejmg.2012.04.001
• Osório et al., 2013 A. Osório, E. Garayzábal, M. Lens, A. Sampaio Neurodevelopmental features of Smith–Magenis syndrome: Strengths and weaknesses International Journal of Developmental Disabilities, 59 (3) (2013), pp. 156-165, 10.1179/2047387712Y.0000000011 Osório et al., 2015 A.
• Osório, A. Sampaio, R.M. Regueiro, E. Garayzábal, Á. Carracedo, M. Fernández Autism spectrum symptoms in Smith–Magenis syndrome and Williams syndrome: Comparisons and contrasts International Journal of Developmental Disabilities, 61 (1) (2015), pp. 49-55, 10.1179/2047387713Y.0000000035
• Poisson et al., 2015 A. Poisson, A. Nicolas, P. Cochat, D. Sanlaville, C. Rigard, H. de Leersnyder, et al. Behavioral disturbance and treatment strategies in Smith–Magenis syndrome Orphanet Journal of Rare Diseases, 10 (1) (2015), p. 111, 10.1186/s13023-015-0330-x
• Prutting and Kittchner, 1987 C.A. Prutting, D.M. Kirchner A clinical appraisal of the pragmatic aspects of language Journal of Speech and Hearing Disorders, 52 (2) (1987), pp. 105-119, 10.1044/jshd.5202.105
• Sarimski, 2003 K. Sarimski Communicative competence and behavioural phenotype in children with Smith–Magenis syndrome Genetic Counseling (Geneva, Switzerland), 15 (3) (2003), pp. 347-355
• Shayota and Elsea, 2019 B.J. Shayota, S.H. Elsea Behavior and sleep disturbance in Smith–Magenis syndrome Current Opinion in Psychiatry, 32 (2) (2019), pp. 73-78, 10.1097/YCO.0000000000000474
• Slager et al., 2003 R.E. Slager, T.L. Newton, C.N. Vlangos, B. Finucane, S.H. Elsea Mutations in RAI1 associated with Smith–Magenis syndrome Nature Genetics, 33 (4) (2003), pp. 466-468, 10.1038/ng1126
• Smith et al., 1998 A. Smith, E. Dykens, F. Greenberg Behavioral phenotype of Smith–Magenis syndrome (del 17p11 2) American Journal of Medical Genetics, 81 (2) (1998), pp. 179-185, 10.1002/(SICI)1096-8628(19980328)81:2<179::AID-AJMG10>3.0.CO;2-E
• Smith and Gropman, 2001 A.C. Smith, A. Gropman Smith–Magenis syndrome S.B. Cassidy, J.E. Allanson (Eds.), Management of genetic syndromes, WileyLiss, New York, EEUU (2001), pp. 363-387
• Smith et al., 2010 A.C. Smith, K. Boyd, S.H. Elsea, B.M. Finucane, B. Haas-Givler, A. Gropman, et al. Smith–Magenis syndrome Management of Genetic Syndromes, 3 (2010), pp. 739-767, 10.1002/0471695998.mgs043
• Solomon et al., 2002 B. Solomon, L. McCullah, D. Krasenwich, A.C. Smith Oral sensory motor, swallowing and speech findings in Smith Magenis syndrome: A research update American Society of Human Genetic Research, 71 (4) (2002), p. 271
• Sonies et al., 1997 B. Sonies, B. Solomon, F. Ondrey, L. McCullagh, F. Greenberg Oral-motor and otolaryngologic findings in 14 patients with Smith–Magenis syndrome (17pll2): Results of an interdisciplinary study American Journal of Human Genetics, 61 (4) (1997), p. A5
• Spinillo and Martins, 1997 A.G. Spinillo, R.A. Martins Uma análise da produção de histórias coerentes por crianças Psicologia: Reflexão e Crítica, 10 (2) (1997), pp. 219-248
• Stein, 1988 N.L. Stein The development of children's storytelling skill M.B. Franklin, S.S. Barten (Eds.), Child language: A reader, Oxford University Press (1988), pp. 282-297
• Stein and Glenn, 1979 N.L. Stein, C.G. Glenn New directions in discourse processing R. Freedle (Ed.), New Directions in Discourse Processing. Advances in Discourse Processes, 2, Ablex Publishing Corporation, New Jersey (1979), pp. 53-120
• Trickett et al., 2018 J. Trickett, M. Heald, C. Oliver, C. Richards A cross-syndrome cohort comparison of sleep disturbance in children with Smith–Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex Journal of Neurodevelopmental Disorders, 10 (2018), p. 9, 10.1186/s11689-018-9226-0
• Udwin et al., 2001 O. Udwin, C. Webber, I. Horn Abilities and attainment in Smith–Magenis syndrome Developmental Medicine & Child Neurology, 43 (12) (2001), pp. 823-828, 10.1111/j.1469-8749.2001.tb00170.x
• Vlangos et al., 2003 C.N. Vlangos, D.K. Yim, S.H. Elsea Refinement of the Smith–Magenis syndrome critical region to ∼950 kb and assessment of 17p11 2 deletions. Are all deletions created equally? Molecular Genetics and Metabolism, 79 (2) (2003), pp. 134-141, 10.1016/S1096-7192(03)00048-9
• Wolters et al., 2009 P.L. Wolters, A.L. Gropman, S.C. Martin, M.R. Smith, H.L. Hildenbrand, C.C. Brewer, et al. Neurodevelopment of children under 3 years of age with Smith–Magenis syndrome Pediatric Neurology, 41 (4) (2009), pp. 250-258, 10.1016/j.pediatrneurol.2009.04.015
• Zalewski et al., 2003 C.K. Zalewski, B. Solomon, L. McCullagh, A. Smith Audiologic phenotype of Smith–Magenis syndrome ASHA Leader, 8 (77) (2003)
• Zenaro et al., 2019 M.P. Zenaro, N.F. Rossi, A.L.D.M.D. Souza, C.M. Giacheti Estrutura e coerência da narrativa oral de crianças com transtorno de déficit de atenção e hiperatividade CoDAS, Vol. 31, No. 6, Sociedade Brasileira de Fonoaudiologia (2019)