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S. Calculator, Patricia Sela (2015)
Overview of the enhanced natural gestures instructional approach and illustration of its use with three students with Angelman syndrome.Journal of applied research in intellectual disabilities : JARID, 28 2
L. Rescorla, Lisa Merrin (1998)
Communicative intent in late-talking toddlersApplied Psycholinguistics, 19
Laura Kuhn, M. Willoughby, M. Wilbourn, Lynne Vernon-Feagans, C. Blair (2014)
Early communicative gestures prospectively predict language development and executive function in early childhood.Child development, 85 5
Sara Giulivi, D. Whalen, L. Goldstein, Hosung Nam, A. Levitt (2011)
An Articulatory Phonology Account of Preferred Consonant-Vowel CombinationsLanguage Learning and Development, 7
F. Soleimani, N. Azari (2014)
BAYLEY SCALES OF INFANT AND TODDLER DEVELOPMENT, THIRD EDITION (BAYLEY-III), 24
Cynthia Cress, Kelli Arens, Alicia Zajicek (2007)
Comparison of Engagement Patterns of Young Children with Developmental Disabilities between Structured and Free PlayEducation and Training in Developmental Disabilities, 42
D. Oller, R. Eilers, A. Neal, Heidi Schwartz (1999)
Precursors to speech in infancy: the prediction of speech and language disorders.Journal of communication disorders, 32 4
(2015)
Triadic interactions and language development in children with autism spectrum disorder
Cynthia Cress, Jodi Grabast, Kimberly Jerke (2013)
Contingent Interactions Between Parents and Young Children With Severe Expressive Communication ImpairmentsCommunication Disorders Quarterly, 34
U. Albrecht, J. Sutcliffe, B. Cattanach, C. Beechey, D. Armstrong, G. Eichele, A. Beaudet (1997)
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neuronsNature Genetics, 17
J. Summers, Julie Impey (2011)
Assessing Joint Attention Responding and Initiation in Children with Angelman SyndromeJournal of Applied Research in Intellectual Disabilities, 24
Craig Albers, A. Grieve (2014)
Third Edition. San Antonio, TX: Harcourt Assessment - Test Review: Bayley, N. (2006). Bayley Scales of Infant and Toddler Development
S. Peters, J. Goddard-finegold, A. Beaudet, N. Madduri, M. Turcich, C. Bacino (2004)
Cognitive and adaptive behavior profiles of children with Angelman syndromeAmerican Journal of Medical Genetics Part A, 128A
Nina Singleton, Jessica Saks (2015)
Co-Speech Gesture Input as a Support for Language Learning in Children With and Without Early Language DelayPerspectives on Language Learning and Education, 22
A. Wetherby, B. Prizant (1989)
The Expression of Communicative Intent: Assessment GuidelinesSeminars in Speech and Language, 10
Joseph Grieco, Stephanie Ciarlone, M. Gieron-Korthals, Mike Schoenberg, Amanda Smith, R. Philpot, H. Heussler, J. Banko, E. Weeber (2014)
An open-label pilot trial of minocycline in children as a treatment for Angelman syndromeBMC Neurology, 14
Yong-hui Jiang, E. Lev-Lehman, Jan Bressler, Ting-Fen Tsai, A. Beaudet (1999)
Genetics of Angelman syndrome.American journal of human genetics, 65 1
M. Miles, A. Huberman (1994)
Qualitative Data Analysis: An Expanded Sourcebook
J. Clayton-Smith (1993)
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.American journal of medical genetics, 46 1
G. Aylward (2017)
Bayley Scales of Infant and Toddler Development
Kandace Penner, Joy Johnston, Barbara Faircloth, Patricia Irish, Charles Williams (1993)
Communication, cognition, and social interaction in the Angelman syndrome.American journal of medical genetics, 46 1
R. Carpenter, Ann Mastergeorge, T. Coggins (1983)
The Acquisition of Communicative Intentions in Infants Eight to Fifteen Months of AgeLanguage and Speech, 26
S. Peters, L. Bird, V. Kimonis, D. Glaze, Lina Shinawi, T. Bichell, R. Barbieri-Welge, M. Nespeca, I. Anselm, S. Waisbren, Erica Sanborn, Qin Sun, W. O'Brien, A. Beaudet, C. Bacino (2010)
Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acidAmerican Journal of Medical Genetics Part A, 152A
S. Robb, K. Pohl, M. Baraitser, J. Wilson, E. Brett (1989)
The 'happy puppet' syndrome of Angelman: review of the clinical features.Archives of Disease in Childhood, 64
N. Jolleff, M Ryan (1993)
Communication development in Angelman's syndrome.Archives of Disease in Childhood, 69
Yvonne Bruinsma, R. Koegel, L. Koegel (2004)
Joint attention and children with autism: a review of the literature.Mental retardation and developmental disabilities research reviews, 10 3
Shari DeVeney, Lesa Hoffman, Cynthia Cress (2012)
Communication-based assessment of developmental age for young children with developmental disabilities.Journal of speech, language, and hearing research : JSLHR, 55 3
Kelli Arens, Cynthia Cress, Christine Marvin (2005)
Gaze-shift patterns of young children with developmental disabilities who are at risk for being nonspeakingEducation and Training in Developmental Disabilities, 40
Suneeti Nathani, D. Ertmer, R. Stark (2006)
Assessing vocal development in infants and toddlersClinical Linguistics & Phonetics, 20
S. Goldin‐Meadow (2015)
Gesture as a window onto communicative abilities: Implications for diagnosis and intervention.Perspectives on language learning and education, 22 2
Richard Gustin, T. Bichell, M. Bubser, Jennifer Daily, I. Filonova, Davit Mrelashvili, A. Deutch, R. Colbran, E. Weeber, K. Haas (2010)
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndromeNeurobiology of Disease, 39
A. John, C. Mervis (2010)
Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome.Journal of speech, language, and hearing research : JSLHR, 53 4
C. Stoel-Gammon (1989)
Prespeech and early speech development of two late talkersFirst Language, 9
E. Crais, L. Watson, G. Baranek (2009)
Use of gesture development in profiling children's prelinguistic communication skills.American journal of speech-language pathology, 18 1
(2010)
Tissue-specific variation of © 2016 The Authors
(1980)
Stages of speech development in the first year of life
BackgroundSeveral genetic aberrations involving the UBE3A gene result in the expression of the Angelman syndrome (AS) phenotype. In most tissues, both the paternal and maternal alleles (chromosome 15q11.2‐13.1) coding for this protein are expressed equally (Jiang, Lev‐Lehman, Bressler, Tsai & Beaudet, ). In contrast, the neuron expresses the maternal allele preferentially. Therefore, any alteration in the maternal UBE3A results in a non‐functional gene product (Albrecht et al. ). Normal expression of UBE3A results in the production of ubiquitin protein ligase E3 (Ube3a), an enzyme that localizes to pre‐synaptic and post‐synaptic compartments of neurons and is required for normal synaptic function (Gustin et al. ). This altered gene expression leads to clinical manifestations of the syndrome that include severe cognitive and physical impairments, seizure, easily provoked laughter and lack of speech.Most individuals with AS do not develop usable speech and suffer from delays in other forms of communicative ability, such as signs and gestures (Clayton‐Smith ; Jolleff & Ryan ; Penner et al. ). Key factors known to contribute to the delay in communication ability in these individuals include cognitive delays and oral motor dysfunction resulting in the language ability equivalent to that of a 22‐month‐old (Jolleff & Ryan ). Other studies showed
Journal of Applied Research in Intellectual Disabilities – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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