Medical and behavioural aspects of Angelman syndrome;Aspectos médicos y conductuales del síndrome de Angelman

Revista de Neurologia

Volumn 41, Issue 11, 2005, Pages 649-656

  Artigas Pallarés, Josep ^a,d   Brun Gasca, C ^a   Gabau Vila, E ^a   Guitart Feliubadalo M ^b   Camprubi Sanchez C ^c  

^a HOSPITAL DE SABADELL   (Spain)

^b Hospital Universitari Parc Taulí   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d NONE   (Spain)

Author keywords

Angelman syndrome; Behavioural phenotype

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; EPILEPSY; FAMILY; FEBRILE CONVULSION; FEEDING; FEMALE; GASTROESOPHAGEAL REFLUX; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; PAIN; PRADER WILLI SYNDROME; QUESTIONNAIRE; SITTING; WALKING; CHROMOSOME 15; GENETICS; INFANT; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ANGELMAN SYNDROME; CHILD; CHILD BEHAVIOR DISORDERS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; EPILEPSY; FEMALE; HUMANS; INFANT; MALE; PHENOTYPE; PRADER-WILLI SYNDROME; QUESTIONNAIRES;

EID: 33644840072     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4111.2005357     Document Type: Article

References (25)

1. Sutcliffe JS, Nurmi, EL, Lombroso PJ. Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susepibility of chromosome 15q11-q13 genes in autism. J Am Acad Child Adolesc Psychiatry 2003; 42: 253-6.
2. Beckung E, Steffenburg S, Kyllerman M. Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome. Dev Med Child Neurol 2004; 46: 239-43.
3. Ruggieri M, McShane MA. Parental view of epilepsy in Angelman syndrome: a questionnaire study. Arch Dis Child 1998; 79: 423-6.
4. Smith A, Marks R, Haan E, Dixon J, Trent RJ. Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. J Med Genet 1997; 34: 426-9.
5. Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Angelman syndrome: clinical profile. J Child Neurol 1992; 7: 270-80.
6. Galván-Manso M, Campistol J, Monros E, Poo P, Vernet AM, Pineda M, et al. Síndrome de Angelman: características físicas y fenotipo conductual en 37 pacientes con diagnostico genético confirmado. Rev Neurol 2002; 35: 425-9.
7. Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, et al. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 1995; 56: 176-83.
8. Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 1993; 46: 12-5.
9. Smith JC. Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med Child Neurol 2001; 43: 476-80.
10. Hagerman R. Angelman syndrome and Prader Willi syndrome. In Hagerman R, eds. Neurodevelopmental disorders. New York: Oxford University Press; 1999. p. 243-90.
11. Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, et al. Angelman syndrome. Curr Probl Pediatr 1995; 25: 216-31.
12. Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40: 87-95.
13. Hernández M, Catellet J, Narvaiza JL, Rincón JM, Ruiz E, Sánchez E, et al. Curvas y tablas de crecimiento. Instituto de Investigación sobre Crecimiento y Desarrollo. Fundación Faustino Orbegozo. Madrid: Garsi; 1988.
14. Kliegman R. Medicina fetal y neonatal. In Behrman R, Kliegman R, eds. Nelson. Compedio de pediatría. Madrid: McGraw-Hill Interamericana; 1999. p. 152-204.
15. Artigas-Pallarés J, Brun C, Gabau E. Aspectos médicos y neuropsicológicos del síndrome X frágil. Rev Neurol Clin 2001; 2: 42-54.
16. Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, et al. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 1996; 33: 107-12.
17. Zhdanova IV, Wurtman RJ, Wagstaff J. Effects of a low dose of melatonin on sleep in children with Angelman syndrome. J Pediatr Endocrinol Metab 1999; 12: 57-67.
18. Clarke DJ, Marston G. Problem behaviors associated with 15q- Angelman syndrome. Am J Ment Retard 2000; 105: 25-31.
19. Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998; 43: 485-93.
20. Brodie MJ, Dichter MA. Antiepileptic drugs. N Engl J Med 1996; 334: 168-75.
21. Laan LA, Renier WO, Arts WF, Buntinx IM, Van der Burgt IJ, Stroink H, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997; 38: 195-9.
22. Cersósimo R, Caraballo R, Espeche A, Cassar L, Torrado MV, Chertkoff L, et al. Síndrome de Angelman: características electroclínicas en 35 pacientes. Rev Neurol 2003; 37: 14-8.
23. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, et al. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 1999; 64: 385-96.
24. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398-402.
25. Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997; 68: 433-40.