597
Views
11
CrossRef citations to date
0
Altmetric
Original Articles

Neurodevelopmental outcomes in children with Angelman syndrome after 1 year of behavioural intervention

, PhD
Pages 239-252 | Received 04 Feb 2012, Accepted 11 Mar 2012, Published online: 30 May 2012

References

  • Angelman H. ‘Puppet’ children: A report on three cases. Developmental Medicine and Child Neurology 1965; 7: 681–688
  • Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, et al. Angelman Syndrome 2005: Updated consensus for diagnostic criteria. American Journal of Medical Genetics 2006; 140A: 413–418
  • Tan W-H, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, et al. Angelman Syndrome: Mutations influence features in early childhood. American Journal of Medical Genetics 2010; 155A: 81–90
  • Williams CA. The behavioral phenotype of the Angelman syndrome. American Journal of Medical Genetics 2010; 154C: 432–437
  • Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: Implications for autism research. Clinical Genetics 2004; 66: 530–536
  • Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome: A population-based study. Pediatric Neurology 1996; 14: 131–136
  • Trillingsgaard A, Ostergaard JR. Autism in Angelman syndrome. Autism 2004; 8: 163–174
  • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics 1997; 15: 70–73
  • Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Human Molecular Genetics 2008; 17: 111–118
  • Jiang YH, Lev-Lehman E, Bressler J, Tsai TF, Beadet A. Genetics of Angelman syndrome. American Journal of Human Genetics 1999; 65: 1–6
  • Varela MC, Kok F, Otto PA, Koiffmann CP. Phenotypic variability in Angelman syndrome: Comparison among different deletion classes and between deletion and UPD subjects. European Journal of Human Genetics 2004; 12: 987–992
  • Gentile JK, Tan W-H, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, et al. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. Journal of Developmental & Behavioral Pediatrics 2010; 31: 592–601
  • Mardirossian S, Rampon C, Salvert D, Fort P, Sarda N. Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. Experimental Neurology 2009; 220: 341–348
  • Yashiro K, Riday TT, Condon KH, Roberts AC, Bernardo DR, Prakash R, et al. Ube3a is required for experience-dependent maturation of the neocortex. Nature Neuroscience 2009; 12: 777–783
  • Peters SU, Kaufmann WE, Bacino CA, Anderson AW, Adapa P, Chu Z, et al. Alterations in white matter pathways in Angelman syndrome. Developmental Medicine and Child Neurology 2011; 53: 361–367
  • Hagerman RJ. Psychopharmacological interventions in Fragile X syndrome, Fetal Alcohol, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and Velocardiofacial syndrome. Mental Retardation and Developmental Disabilities Research Reviews 1999; 5: 305–313
  • Huang HS, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, et al. Topoisomerase inhibitors unsilence the dormant allele of UBE3A in neurons. Nature 2012; 481: 185–189
  • Bayley N, Bayley Scales of Infant and Toddler Development. 3rd ed (Bayley-III). San Antonio, TX: Harcourt Assessment Inc; 2005
  • Sparrow SS, Balla DA, Cicchetti DV. Vineland Adaptive Behavior Scales: Survey Form Manual. American Guidance Service, Circle Pines, MN 1984
  • Brun Gasca C, Obiols JE, Bonillo A, Artigas J, Lorente I, Gabau E, et al. Adaptive behaviour in Angelman syndrome: Its profile and relationship to age. Journal of Intellectual Disability Research 2010; 54: 1024–1029
  • Bruininks RH, Hill BK, Weatherman RF, Woodcock RW. Inventory for client and agency planning. DLM Teaching Resources, Allen, TX 1986
  • Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, et al. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: Genotype-phenotype correlations. Journal of Medical Genetics 2006; 43: 512–516
  • Bayley N, Bayley Scales of Infant Development. 2nd ed (Bayley-II). San Antonio, TX: Psychological Corp; 1993
  • Lovaas OI. Behavioral treatment and normal educational and intellectual functioning in young autistic children. Journal of Consulting and Clinical Psychology 1987; 55: 3–9
  • McEachin JJ, Smith T, Lovaas OI. Long-term outcome for children with autism who received early intensive behavioral intervention. American Journal on Mental Retardation 1993; 97: 359–372
  • Helt M, Kelley E, Kinsbourne M, Pandey J, Boorstein H, Herbert M, Fein J. Can children with autism recover? If so, how?. Neuropsychological Review 2008; 18: 339–366
  • Summers JA, Lynch PS, Harris JC, Burke JC, Allison DB, Sandler L. A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome. Journal of Developmental and Behavioral Pediatrics 1992; 13: 284–287
  • Didden R, Sikkema SPE, Bosman ITM, Duker PC, Curfs LMG. Use of a modified Azrin-Foxx toilet training procedure with individuals with Angelman syndrome. Journal of Applied Research in Intellectual Disabilities 2001; 14: 64–70
  • Summers J, Szatmari P. Using discrete trial instruction to teach children with Angelman syndrome. Focus on Autism and Other Developmental Disabilities 2009; 24: 216–226
  • Mullen E. Mullen Scales of Early Learning. American Guidance Service, Circle Pines, MN 1995
  • Bzoch K, League R. Receptive-Expressive Emergent Language Scale, 2nd. University Park Press, Baltimore, MD 1991
  • Andersen WH, Rasmussen RK, Stromme P. Levels of cognitive and linguistic development in Angelman syndrome: A study of 20 children. Logopedics, Phoniatrics, Vocology 2001; 26: 2–9
  • Lord C, Rutter M, DiLavore PC, Risi S. Autism Diagnostic Observation Schedule. Western Psychological Services, Los Angeles, CA 2002
  • Kleiman LI. Functional Communication Profile-Revised. East Moline, IL: LinguiSystems Inc. 2003
  • Hagopian LP, Long ES, Rush KS. Preference assessment procedures for individuals with developmental disabilities. Behavior Modification 2004; 28: 668–677
  • Summers J, Teaching functional skills to children with Angelman syndrome. Unpublished manual; 2006. Available from the author
  • Summers J, Hall E. Impact of an instructional manual on the implementation of ABA teaching procedures by parents of children with Angelman syndrome. Journal on Developmental Disabilities 2008; 14: 26–34
  • Smith T. Discrete trial training in the treatment of autism. Focus on Autism and Other Developmental Disabilities 2001; 16: 86–92
  • Koegel RL, Russo DC, Rincover A. Assessing and training teachers in the generalized use of behavior modification with autistic children. Journal of Applied Behavior Analysis 1977; 10: 197–205
  • Skinner BF. Verbal behavior. Appleton-Century-Crofts, New York 1957
  • Carr JE, Firth AM. The verbal behavior approach to early and intensive behavioral intervention for autism: A call for additional empirical support. Journal of Early and Intensive Behavioral Intervention 2005; 2: 18–27
  • Sundberg ML, Partington JW. Teaching language to children with autism or other developmental disabilities. Behavior Analysts Inc, Pleasant Hill, CA 1998
  • Cummings AR, Carr JE. Evaluating progress in behavioral programs for children with autism spectrum disorders via continuous and discontinuous measurement. Journal of Applied Behavior Analysis 2009; 42: 57–71
  • Iman RL. A data-based approach to statistics. Duxbury Press, Belmont, CA 1994
  • Jolleff N, Emmerson F, Ryan M, McConachie H. Communication skills in Angelman syndrome: Matching phenotype to genotype. Advances in Speech-Language Pathology 2006; 8: 28–33
  • Summers J, Impey J. Evaluating joint attention initiation and responding in children with Angelman syndrome. Journal of Applied Research in Intellectual Disabilities 2011; 24: 450–458
  • Peters SU, Horowitz L, Barbieri-Welge R, Lounds Taylor J, Hundley RJ. Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. Journal of Child Psychology and Psychiatry 2012; 53: 152–159
  • Bonati MT, Russo S, Finelli P, Valsecchi MR, Cogliati F, Cavalleri F, et al. Evaluation of autism traits in Angelman syndrome: A resource to unfold genes. Neurogenetics 2007; 8: 169–178
  • Tunnicliffe P, Oliver C. Phenotype-environmental interactions in genetic syndromes associated with severe or profound intellectual disability. Research in Developmental Disabilities 2011; 32: 404–418
  • Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, et al. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. American Journal of Medical Genetics 2010; 152A: 1994–2001

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.