Angelman syndrome in adulthood

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages 331-344

  Larson, Anna M ^a   Shinnick, Julianna E ^a   Shaaya, Elias A ^a   Thiele, Elizabeth A ^a   Thibert, Ronald L ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Adults; Angelman syndrome; Behavior; Seizures; Self injury

Indexed keywords

ADOLESCENT; ADULT; ADULTHOOD; AGE DISTRIBUTION; ANXIETY; ARTICLE; ASPIRATION; AUTOMUTILATION; BEHAVIOR DISORDER; BONE DENSITY; CAREGIVER; CHILDHOOD; CLINICAL FEATURE; COHORT ANALYSIS; CONSTIPATION; CONTROLLED STUDY; DENTAL PROCEDURE; DISEASE SEVERITY; FEMALE; GASTROESOPHAGEAL REFLUX; GENOTYPE PHENOTYPE CORRELATION; HAPPY PUPPET SYNDROME; HUMAN; INFANCY; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; OBESITY; PREVALENCE; PRIMARY HEALTH CARE; SCOLIOSIS; SEIZURE; SEX DIFFERENCE; SLEEP DISORDER; SLEEP PATTERN; SPINE SURGERY; TELEPHONE INTERVIEW; VISUAL IMPAIRMENT; WALKING; ANGELMAN SYNDROME; CANADA; DAILY LIFE ACTIVITY; FACTUAL DATABASE; GENETICS; MIDDLE AGED; MUTATION; PUERTO RICO; UNIPARENTAL DISOMY; UNITED STATES; YOUNG ADULT;

UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ACTIVITIES OF DAILY LIVING; ADOLESCENT; ADULT; ANGELMAN SYNDROME; CANADA; COHORT STUDIES; DATABASES, FACTUAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PUERTO RICO; UBIQUITIN-PROTEIN LIGASES; UNIPARENTAL DISOMY; UNITED STATES; YOUNG ADULT;

EID: 84921326647     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36864     Document Type: Article

References (53)

1. Adams D, Horsler K, Oliver C. 2011. Age related change in social behavior in children with Angelman syndrome. Am J Med Genet PartA 155A:1290-1297.
2. Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. 1997. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet 17:75-78.
3. Bjerre I, Fagher B, Ryding E, Rosén I. 1984. The Angelman or "happy puppet" syndrome. Clinical and electroencephalographic features and cerebral blood flow. Acta Paediatr Scand 73:398-402.
4. Buckley RH1, Dinno N, Weber P. 1998. Angelman syndrome: Are the estimates too low. Am J Med Genet 80:385-390.
5. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. 1995. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400.
6. Buntinx IM, Hennekam RCM, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP. 1995. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 56:176-183.
7. Calculator SN. 2013. Use and acceptance of AAC systems by children with Angelman syndrome. J Appl Res Intellect Disabil. 26:557-567.
8. Clayton-Smith J. 1993. Clinical research on Angelman syndrome in the United Kingdom: Observations of 82 affected individuals. Am J Med Genet 46:12-15.
9. Clayton-Smith J. 2001. Angelman syndrome: Evolution of the phenotype in adolescents and adults. Dev Med Child Neurol 43:476-480.
10. Clayton-Smith J, Laan L. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40:87-95.
11. Conant KD, Thibert RL, Thiele EA. 2009. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Epilepsia 50:2497-2500.
12. Coppola G, Verrotti A, Mainolfi C, Auricchio G, Fortunato D, Operto FF, Pascotto A. 2007. Bone mineral density in angelman syndrome. Pediatr Neurol 37:411-416.
13. Dalla Bernardina, Fontana B, Zullini E, La Selva E, Franco L, Darra A. 1995. Angelman syndrome: Electroclinical features of 10 personal cases. Gaslini 27:75-78.
14. A receptor expression is reduced in Angelman syndrome. Society For Neuroscience Abstract 22:1166.
15. Didden R, Sigafoos J, Korzilius H, Baas A, Lancioni GE, O'Reilly MF, Curfs LMG. 2009. Form and function of communicative behaviours in individuals with Angelman syndrome. J Appl Res Intellect Disabil 22:526-537.
16. Elia M. 2009. Myoclonic status in nonprogressive envephalopathies: an update. Epilepsia 50:41-44.
17. Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. 2003. Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. Paediatr Drugs 5:647-661.
18. Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM. 1996. Cortical myoclonus in Angelman syndrome. Ann Neurol 40:39-48.
19. Humphrey A, Ploubidis GB, Yates JR, Steinberg T, Bolton PF. 2008. The early childhood epilepsy severity scale (E-Chess). Epilepsy Res 79:139-145.
20. Jolleff N, Ryan MM. 1993. Communication development in Angelman syndrome. Arch Dis Child 69:148-150.
21. Kishino T, Lalande M, Wagstaff J. 1997. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73.
22. Knoll JHM, Nicholls RD, Magenis RE, Graham JM, Jr, Lalande M, Latt SA. 1989. Angelman and Prader-Willli syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
23. Laan LA, Renier WO, Arts WF, Buntinx IM, v. d, Burgt IJ, Stroink H, Beuten J, Zwinderman KH, van Dijk JG, Brouwer OF. 1997. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 38:195-199.
24. Laan LA, Th. den Boer, Hennekam R, Renier WO, Brouwer OF. 1996. Angelman syndrome in adulthood. Am J Med Genet 66:356-360.
25. Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. 2001. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38:831-845.
26. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. 1991. Uniparental disomy in Angelman syndrome. Lancet 337:694-697.
27. Matsumoto A, Toshiyuki K, Kiyokuni M, Miyazaki S, Hayakawa C, Yamanaka T. 1992. Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 6:1083-1090.
28. Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. 1997. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77.
29. Miano S, Bruni O, Leuzzi V, Elia M, Verrillo E, Ferri R. 2004. Sleep polygraphy in Angelman syndrome. Clin Neurophysiol 115:938-945.
30. Minassian BA, Delorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, van Ness P, Livet MO, Delgado-Escueta AV. 1998. Angelman syndrome: Correlations between epilepsy phenotypes and genotypes. Ann Neurol 43:485-493.
31. Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO. 1999. Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Eur J Med Genet 7:131-139.
32. Mudford O, Arnold-Saritepe A, Phillips K, Locke J, Ho I, Taylor S. 2008. Challenging behavior. In: Matson J, editor. Clinical Assessment and Intervention for Autism Spectrum Disorders. New York: Academic Press. pp 267-297.
33. Nolt DH, Mott JM, Lopez WL. 2003. Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an Internet questionnaire. Am J Health Syst Pharm 60:2583-2587.
34. Ogawa K, Ohtsuka Y, Kobayashi K, Asano T, Oka E. 1996. The characteristics of epilepsy with Angelman syndrome. Epilepsia. 37:83-84.
35. Pelc K, Boyd SG, Cheron G, Dan B. 2008. Epilepsy in Angelman syndrome. Seizure 17:211-217.
36. Penner KA, Johnston J, Faircloth BH, Irish P, Williams CA. 1993. Communication, cognition and social interaction in the Angelman syndrome. Am J Med Genet 46:34-39.
37. Rufa A, Dotti MT, Orrico A, Battisti C, Carletto F, Federico A. 2003. Retinochoroidal atrophy in two adult patients with Angelman syndrome. Am J Med Genet A 122:155-158.
38. Sandanam T, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. 1997. Manifestations in institutionalized adults with Angelman syndrome due to deletion. Am J Med Genet 70:415-420.
39. Schneider BB, Maino DM. 1993. Angelman syndrome. J Am Optom Assoc 64:502-506.
40. Smith AC, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. 1996. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 33:107-112.
41. Stecker MM, Myers SM. 2003. Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome. Clin Neurol Neurosurg 105:183-187.
42. Summers JA, Allison DB, Lynch PS, Sandler L. 1995. Behaviour problems in Angelman syndrome. J Intellect Disabil Res 39:97-106.
43. Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EL. 2009. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia 50:2369-2376.
44. Thomson AK, Glasson EJ, Bittles AH. 2006. A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia. Disabil Rehabil 28:1953-2003.
45. Uemura N, Matsumoto A, Nakamura M, Watanabe K, Negoro T, Kumagai T, Miura K, Ohki T, Mizuno S, Okumura A, Aso K, Hayakawa F, Kondo Y. 2005. Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome. Brain Dev 5:383-388.
46. Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, Grossmann RM, Marques-Dias MJ. 2006. Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q. Ital J Pediatr 63:11-13.
47. Van Buggenhout GJ, Descheemaeker MJ, Thiry P, Trommelen JC, Hamel BC, Fryns JP. 2000. Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. Genet Couns 11:363-373.
48. Van Buggenhout G, Fryns JP. 2009. Angelman syndrome (AS. MIM 105830). Eur J Hum Genet 17:1367-1373.
49. Viani F, Romeo A, Viri M, Mastrangelo M, Lalatta F, Selicorni A, Gobbi G, Lanzi G, Bettio D, Briscioli V, Segni MD, Parini R, Viani GF, Romeo A, Viri M, Mastrangelo M, Lalatta F, Selicorni A. 1995. Seizure and EEG patterns in Angelman's syndrome. J Child Neurol 10:467-471.
50. Waltz NC, Beebe D, Byars K. 2005. Sleep in individuals with Angelman syndrome: Parent perceptions of patterns and problems. Am J Ment Retard 110:243-252.
51. Williams CA, Frias JL. 1982. The Angelman ("happy puppet") syndrome. Am J Med Genet 11:453-460.
52. Williams CA. 2005. Neurological aspects of the Angelman Syndrome. Brain Dev 27:88-94.
53. Williams CA, Driscoll DJ, Dagli AI. 2010. Clinical and genetic aspects of Angelman syndrome. Genet Med 12:385-395.