Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome

References

• Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Movement Disorders 2010;25:282–288
   PubMed Web of Science ®Google Scholar
• Cass H, Reilly S, Owen L, Wisbeach A, Weekes L, Slonims V, Wigram T, Charman T. Findings from a multidisciplinary clinical case series of females with Rett syndrome. Developmental Medicine and Child Neurology 2003;45:325–337
   PubMed Web of Science ®Google Scholar
• Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, and loss of purposeful hand use in girls: Rett’s syndrome: Report of 35 cases. Annals of Neurology 1983;14:471–479
   PubMed Web of Science ®Google Scholar
• Neul JL, Kaufmann WE, Glaze DG, Christodolou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, et al.; RettSearch Consortium. Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology 2010;68:944–950
   PubMed Web of Science ®Google Scholar
• Laurvick C, de Klerk N, Bower C, Christodolou J, Ravine D, Ellaway C, Williamson S, Leonard H. Rett syndrome in Australia: A review of the epidemiology. Journal of Pediatrics 2006;148:347–352
   PubMed Web of Science ®Google Scholar
• Amir RE, van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 1999;23:185–188
   PubMed Web of Science ®Google Scholar
• Neul JL. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues in Clinical Neuroscience 2012;14:253–262
   PubMedGoogle Scholar
• Sigafoos J, Kagohara D, van der Meer L, Green VA, O’Reilly MF, Lancioni GE, Lang R, Rispoli M, Zisimopoulos D. Communication assessment for individuals with Rett syndrome: A systematic review. Research in Autism Spectrum Disorders 2011;5:692–700
   Web of Science ®Google Scholar
• Matson JL, Fodstad JC, Boisjoli JA. Nosology and diagnosis of Rett syndrome. Research in Autism Spectrum Disorders 2008;2:601–611
   Web of Science ®Google Scholar
• Kerr AM, Archer HL, Evans JC, Gibbon F. People with mutation positive Rett disorder who converse. Journal of Intellectual Disability Research 2006;50:386–394
   PubMed Web of Science ®Google Scholar
• Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, et al. Changing the perspective on early development of Rett syndrome. Research in Developmental Disabilities 2013;34:1236–1239
   PubMed Web of Science ®Google Scholar
• Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Developmental Medicine and Child Neurology 1998;40:115–121
   PubMed Web of Science ®Google Scholar
• Kerr AM. Early clinical signs in the Rett disorder. Neuropediatrics 1995;26:67–71
   PubMedGoogle Scholar
• Burford B. Perturbations in the development of infants with Rett disorder and the implications for early development. Brain & Development 2005;27:S3–S7
   PubMed Web of Science ®Google Scholar
• Tams-Little S, Holdgrafer G. Early communication development in children with Rett syndrome. Brain & Development 1998;18:376–378
   Google Scholar
• Zappella M, Gillberg C, Ehlers S. The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases. Journal of Autism and Developmental Disorders 1998;28:519–526
   PubMed Web of Science ®Google Scholar
• Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain & Development 2009;31:208–216
   PubMed Web of Science ®Google Scholar
• Einspieler C, Kerr AM, Prechtl HF. Abnormal general movements in girls with Rett disorder: The first four months of life. Brain & Development 2005;27:8–13
   PubMed Web of Science ®Google Scholar
• Einspieler C, Kerr AM, Prechtl HF. Is the early development of girls with Rett disorder really normal? Pediatric Research 2005;57:696–700
   PubMed Web of Science ®Google Scholar
• Marschik PB, Einspieler C, Prechtl HF, Oberle A, Laccone F. Relabelling the preserved speech variant of Rett syndrome. Developmental Medicine and Child Neurology 2010;52:218
   PubMed Web of Science ®Google Scholar
• Marschik PB, Lanator I, Freilinger M, Prechtl HFR, Einspieler C. Early signs and later neurophysiological correlates of Rett syndrome. Klinische Neurophysiologie 2011;42:22–26
   Web of Science ®Google Scholar
• Marschik PB, Einspieler C, Sigafoos J. Contributing to the early detection of Rett syndrome: The potential role of auditory Gestalt perception. Research in Developmental Disabilities 2012;33:461–466
   PubMed Web of Science ®Google Scholar
• Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J. Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. Research in Developmental Disabilities 2012;33:1749–1756
   PubMed Web of Science ®Google Scholar
• Marschik PB, Pini G, Bartl-Pokorny KD, Duckworth M, Gugatschka M, Vollmann R, Zappella M, Einspieler C. Early speech-language development in females with Rett syndrome: Focusing on the preserved speech variant. Developmental Medicine and Child Neurology 2012;54:451–456
   PubMed Web of Science ®Google Scholar
• Marschik PB, Sigafoos J, Kaufmann WE, Wolin T, Talisa VB, Bartl-Pokorny KD, Budimirovic DB, Vollmann R, Einspieler C. Peculiarities in the gestural repertoire: An early marker for Rett syndrome? Research in Developmental Disabilities 2012;33:1715–1721
   PubMed Web of Science ®Google Scholar
• Einspieler C, Widder J, Holzer A, Kenner T. The predictive value of behavioural risk factors for sudden infant death. Early Human Development 1998;18:101–109
   Google Scholar
• Marschik PB, Einspieler C, Garzarolli B, Prechtl HF. Events at early development: Are they associated with early word production and neurodevelopmental abilities at the preschool age? Early Human Development 2007;83:107–114
   PubMed Web of Science ®Google Scholar
• Luyster R, Lopez K, Lord C. Characterizing communicative development in children referred for autism spectrum disorders using the MacArthur–Bates Communicative Development Inventory (CDI). Journal of Child Language 2007;34:623–654
   PubMed Web of Science ®Google Scholar
• Marschik PB, Einspieler C. Methodological note: Video analysis of the early development of Rett syndrome – One method for many disciplines. Developmental Neurorehabilitation 2011;14:355–357
   PubMed Web of Science ®Google Scholar
• Palomo R, Belinchón M, Ozonoff S. Autism and family home movies: A comprehensive review. Developmental and Behavioral Pediatrics 2006;27:S59–S68
   PubMed Web of Science ®Google Scholar
• Ozonoff S, Iosif AM, Young GS, Hepburn S, Thompson M, Colombi C, Cook IC, Werner E, Goldring S, Baguio F, et al. Onset patterns in autism: Correspondence between home video and parent report. Journal of American Academy of Child and Adolescent Psychiatry 2011;50:796–806
   PubMed Web of Science ®Google Scholar
• Baranek GT, Danko CD, Skinner ML, Bailey DB Jr, Hatton DD, Roberts JE, Mirrett PL. Video analysis of sensory-motor features in infants with fragile X syndrome at 9--12 months of age. Journal of Autism and Developmental Disorders 2005;35:645–656
   PubMed Web of Science ®Google Scholar
• Watson LR, Crais ER, Baranek GT, Dykstra JR, Wilson KP. Communicative gesture use in infants with and without autism: A retrospective home video study. American Journal of Speech-Language Pathology 2013;22:25–39
   PubMed Web of Science ®Google Scholar
• Einspieler C, Hirota H, Yuge M, Dejima S, Marschik PB. Early behavioural manifestation of Smith--Magenis syndrome (del 17p11.2) in a 4-month-old boy. Developmental Neurorehabilitation 2012;15:313–316
   PubMed Web of Science ®Google Scholar
• Marschik PB, Einspieler C, Oberle A, Laccone F, Prechtl HFR. Case report: Retracing atypical development: A preserved speech variant of Rett syndrome. Journal of Autism and Developmental Disorders 2009;39:958–961
   PubMed Web of Science ®Google Scholar
• Sigafoos J, Arthur-Kelly M, Butterfield N. Enhancing everyday communication with children with disabilities. Baltimore: Brookes Publishing Company; 2006
   Google Scholar
• Sigafoos J, Woodyatt G, Keen D, Tait K, Tucker M, Roberts-Pennell D, Pittendreigh N. Identifying potential communicative acts in children with developmental and physical disabilities. Communication Disorders Quarterly 2000;21:77–86
   Google Scholar
• Kiese-Himmel C. AWST-R: Aktiver Wortschatztest für 3- bis 5-jährige Kinder. Göttingen: Beltz Test; 2005
   Google Scholar
• Fox A. TROG-D. Test zur Überprüfung des Grammatikverständnisses. Idstein: Schulz-Kirchner; 2006
   Google Scholar
• Grimm H. SETK 3-5: Sprachentwicklungstest für drei- bis fünfjährige Kinder (SETK 3–5). Göttingen: Hogrefe; 2001
   Google Scholar
• Kauschke C, Siegmüller J. PDSS: Patholinguistische Diagnostik bei Sprachentwicklungsstörungen. 2nd ed. München: Elsevier; 2009
   Google Scholar
• Einspieler C, Marschik PB, Prechtl HFR. Human motor behaviour: Prenatal origin and early postnatal development. Journal of Psychology 2008;216:148–154
   Google Scholar
• Budden S. Clinical variability in early speech-language development in females with Rett syndrome. Developmental Medicine and Child Neurology 2012;54:339–392
   PubMedGoogle Scholar
• Charman T, Cass H, Owen L, Wigram T, Slonims V, Weeks L, Wisbeach A, Reilly S. Regression in individuals with Rett syndrome. Brain & Development 2002;24:281–283
   PubMed Web of Science ®Google Scholar
• Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, et al. Social impairments in Rett syndrome: Characteristics and relationship with clinical severity. Journal of Intellectual Disability Research 2012;56:233–247
   PubMed Web of Science ®Google Scholar
• Didden R, Korzilius H, Smeets E, Green VA, Lang R, Lancioni GE, Curfs LM. Communication in individuals with Rett syndrome: An assessment of forms and functions. Journal of Developmental and Physical Disabilities 2010;22:105–118
   PubMed Web of Science ®Google Scholar
• Hepflinger S, Vollmann R, Einspieler C, Bartl K, Marschik PB. Der Zusammenhang von pragmatischen und narrativen Kompetenzen bei einem Mädchen mit Rett Syndrom. Grazer Linguistische Studien 2011;75:89–106
   Google Scholar
• Ninio A, Snow C. Pragmatic development. Boulder: Westview Press; 1996
   Google Scholar
• Bartl K, Vollmann R, Strutzmann E, Marschik PB. Erzählstrukturen bei 3-bis 6-jährigen Vorschulkindern. Grazer Linguistische Studien 2011;75:25–37
   Google Scholar
• Berman R, Slobin DI. Relating events in narrative: A crosslinguistic developmental study. Mahwah: Lawrence Erlbaum; 1994
   Google Scholar
• Norbury CF, Bishop DVM. Narrative skills of children with communication impairments. International Journal of Language and Communication Disorders 2003;38:287–313
   PubMed Web of Science ®Google Scholar
• Leinonen E, Letts C, Smith BR. Children's pragmatic communication difficulties: Narratives and story telling. London: Whurr; 2000
   Google Scholar
• Botting N. Narrative as a tool for the assessment of linguistic and pragmatic impairments. Child Language Teaching and Therapy 2002;18:1–21
   Google Scholar
• Kay-Raining Bird E, Cleave PL, White D, Pike H, Helmkay A. Written and oral narratives of children and adolescents with Down syndrome. Journal of Speech, Language, and Hearing Research 2008;51:436–450
   PubMed Web of Science ®Google Scholar