Sleep-wake, aspects of memory and melatonin in Williams-Beuren Syndrome: a review of literature
Sono-vigília, aspectos de memória e melatonina em Síndrome de Williams-Beuren: uma revisão de literatura
Stella Donadon Santoro; Luciana Pinato
Abstract
The Williams-Beuren syndrome, a genetic disorder (microdeletion in chromossome region 7q11.23) presents an apparent social skills with contrasts with the low global cognitive performance and visuo-spatial problems as receptive, structural and semantic form of communication, besides deficits in attention, hyperactivity and memory impairments in visuospatial. Another feature are disorders of the sleep-wake cycle with sleep ineffective resistance to going to bed, wake up at night and drowsiness during the day. A possibility not yet explored would be the abnormal pattern in the synthesis of melatonin, a hormone that can modulate the quality of sleep. Considering the assumption that the quality of sleep is directly influenced by the levels of melatonin and essential for the proper development of cognitive functions, sought to in this literature review which studies that investigated separately and correlated these three aspects or in Williams-Beuren syndrome: sleep-wake, memory and melatonin. To search, was used Medline/Pubmed, SciELO and Lilacs databases, with the keywords: “Williams Beuren syndrome, síndrome de Williams Beuren, memory, memória, sleep-wake, sono-vigília, melatonin e melatonina” for means of crossing and the AND connective. The literature review showed that there are no jobs that these three variables correlate with each other nor work to investigate melatonin in Williams-Beuren syndrome. The individual investigations on sleep and memory are critically discussed in this work that emphasizes the need for studies to correlate these parameters, as well as behavioral, cognitive and biochemical related to them.
Keywords
Resumo
A Síndrome de Williams-Beuren, distúrbio genético (microdeleção na região cromossômica 7q11.23), apresenta como fenótipo aparente habilidade social que contrasta com o mau funcionamento cognitivo global e visuo-espacial, problemas na forma receptiva, estrutural e semântica da comunicação, além de déficits na atenção, hiperatividade e na memória visuoespacial. Outra caracteristica são desordens no ciclo sono-vigília, com sono ineficaz, resistência em ir para a cama, acordares durante a noite e sonolência durante o dia. Uma possibilidade ainda não explorada nesta síndrome seria o padrão anormal na síntese de melatonina, hormônio capaz de modular a qualidade do sono. Considerando que a qualidade do sono é diretamente influenciada pelos níveis de melatonina e que tanto a melatonina quanto o sono são essenciais para o desenvolvimento adequado das funções cognitivas, buscou-se nesta revisão de literatura quais estudos investigaram separadamente e ou correlacionaram estes três aspectos (melatonina, sono-vigília e memória) na síndrome de Williams-Beuren. Para busca, foram utilizadas as bases de dados Medline/Pubmed, SciELO e Lilacs, com os seguintes descritores: “Williams Beuren syndrome, síndrome de Williams Beuren, memory, memória, sleep-wake, sono-vigília, melatonin e melatonina”, por meio de cruzamento e com o conectivo AND. O levantamento bibliográfico mostrou que não existem na literatura trabalhos que correlacionaram estas três variáveis entre si nem tampouco trabalhos que investigaram a melatonina na síndrome de Williams-Beuren. As investigações sobre sono assim como as investigações sobre memória são criticamente discutidas neste trabalho que ressalta a necessidade de estudos que correlacionem estes parâmetros, bem como outros fatores comportamentais, cognitivos e bioquímicos a eles relacionados.
Palavras-chave
Referências
1. Elçioglu N, Mackie-Ogilvie C, Daker M, Berry AC. FISH analysis in patients with clinical diagnosis of Williams syndrome. Act Ped. 1998;87(1):48-53.
2. Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams Syndrome. Jour Child Neur. 2002;17:269-71.
3. Sugayama SMM. Estudo genético-clínico e citogenética molecular pela técnica de hibridação in situ por fluorescência (FISH) em pacientes com Síndrome de Williams-Beuren [tese]. São Paulo (SP): Universidade de São Paulo, Faculdade de Medicina, Departamento de Pediatria; 2001.
4. Jarvinem-Pasley A, Bellugi U, Reilly J, Mills DL, Galaburda A, Reiss AL, et al. Defining the social phenotype in Williams syndrome: A model for linking ene, the brain, and behavior. Rev Psych. 2008;20(1):1-35.
5. Rossi NF, Souza DH, Moretti-Ferreira D, Giacheti CM. Perfil da fluência de fala na síndrome de Williams-Beuren: estudo preliminar. Pró-Fono R Atual Cient. 2009;21(2):107-11.
6. Mervis CB, Robinson BF, Bertrand J, Morris CA, Klein-Tasman BP, Armstrong, SC. The Williams syndrome cognitive profile. Brain Cognit. 2000;44(3):604-28.
7. Bellugi U, Lichtenberger L, Jones W, Lai ZST, George MI. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses. Jour of Cogn Neuros. 2000;12(1):7-29.
8. Sampaio A, Sousa N, Fernandez M, Henriques M, Gonçalves OF. Memory abilities in Williams syndrome: dissociation or developmental delay hypothesis? Brain and Cogn. 2008;66:290-7.
9. Vicari S, Carlesimo G, Brizollara D, Pezzini G. Short-term memory in children with Williams syndrome: A reduced contribution of lexicalsemantic knowledge to word span. Neuropsych. 1996;34(9):919-25.
10. Annaz D, Hill CM, Ashworth A, Holley S, Karmiloff-Smith A. Characterisation of sleep problems in children with Williams syndrome. Develop Disab. 2011;32:164-9.
11. Mason TBA, Arens R, Sharman J, Bintliff-Janisak B, Schultz B, Walters AS, et al. Sleep in children with Williams syndrome. Sleep Med. 2011;14:1-6.
12. Goldman SE, Malow BA, Newman KD, Roof E, Dykens EM. Sleep patterns ans daytime sleepiness in adolescentes and Young adults with Williams syndrome. Jour of Intelec Disabil Res. 2009;53(2):182-8.
13. Gombos F, Bódzis R, Kovács I. Atypical sllep architecture and altered EEG spectra in Williams syndrome. Jour of Intelec Disabil Res. 2011;55(3):255-62.
14. Rossignol DA, Frye RE. Melatonin in autism spectrum disorders: a systematic review and meta-analysis. Develop Med & Child Neurol. 2011;53(9):783-92.
15. Singer C, Tractenberg RE, Kaye J, Schafer K, Gamst A, Grudman M, et al. A multicenter, placebo-controlled trial of melatonin for sleep disturbance in Alzheimer's disease. Sleep Med. 2003;26(7):893-901.
16. Nováková M, Nevsímalová S, Prihodová I, Sládek M, Sumová A. Alteration of the cicardian clock in children with Smith-Magenis syndrome. Jour Clin Endocrin Metab. 2012;97(2):312-8.
17. Simmoneaux V, Ribelayga C. Generation of the melatonin endocrine message in mammals: a review of the complex regulation of melatonina synthesis by Norepinephrine, peptides, and other pineal transmiters. Pharmac Rev. 2003;55(2):235-95.
18. Markus RP, Ferreira ZS, Fernandes PACM, Cecon E. The immune-pineal axis: a shuttle between endocrine and paracrine melatonin sources. Neuroimmuno. 2007;14(3/4):126-33.
19. Argyriou A, Prast H, Phillipu A. Melatonin facilitates short-term memory. European Jour of Pharmac. 1998;349(2):159-62.
20. Maestroni GJ. The immunotherapeuttic potential of melatonin. Expert Opinion Investigate Drugs. 2001;10:467-76.
21. Sarimski K. Specific eating and sleeping problems un Prader-Willi and Williams-Beuren syndrome. Child: Care, Healt and Develop. 1996;22(3):143-50.
22. Arens T, Wright B, Elliot J, Zhao H, Wang PP. Periodic limb movement in sleep in children with Williams syndrome. The jour of ped. 1998;133:670-4.
23. Monafred A, Messner A. Death following tonsillectomy in a child with Williams syndrome. Intern Jour of Ped Otorhinol. 2006;70:1133-5.
24. Goldman SE. Et al. Sleep patterns ans daytime sleepiness in adolescentes and Young adults with Williams syndrome. Jour of Intel Disab Res. 2009;53(2):182-8.
25. Bódzis R, Gombos F, Kovács I. Sleep EEG fingerprints reveal accelerated thalamocortical oscillatory dynamics in Williams syndrome. Res in Devel Disab. 2012;33:153-64.
26. Ashworth A, Hill CM, Karmillof-Smith A, Dimitriou D. Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. Res in Devel Disab. 2013;34:1572-80.
27. Mandolesi L, Addona F, Foti F, Manghini D, Petrosini L, Vicari S. Spatial competences in Williams syndrome: a radial arm maze study. International Jour of Devel Neurosc. 2009;27:205-13.
28. O'hearn K, Courtney S, Street W, Landau B. Working memory impairment in people with Williams syndrome: Effects of delay, task and stimuli. Brain and Cogn. 2009;69:495-503.
29. Carney DPJ, Brown JH, Henry LA. Executive function in Williams and Down syndromes. Res in Develop Disab. 2013;34:46-55.
30. Rhodes SM, Riby DM, Park J, Fraser E, Campbell LE. Executive neuropsychological functioning in individuals with Williams syndrome. Neuropsych. 2010;48:1216-26.
31. Osório A, Cruz R, Sampaio A, Garazaybal E, Martinez-Regueiro R, Gonçalves OF. Et al. How executive functions are related to intelligence in Williams syndrome. Res in Develop Disab. 2012;33:1169-75.
32. Sampaio A, Sousa N, Fernández M, Vasconcelos C, Shenton ME, Gonçalves O. Williams Syndrome and Memory: A Neuroanatomic and Cognitive Approach. Jour of Autism Develop Dis. 2010;40:870-7.
33. Lakusta L, Dessalegn B, Landau B. Impaired geometric reorientation caused by genetic defect. Psych and Cogn Sci. 2010;107(7):2813-7.
34. Tavano AL, Gagliardi C, Martelli S, Borgatti R. Neurological soft signs feature a double dissociation whitin the language system in Williams syndrome. Neuropsych. 2010;48:3298-304.
35. O'hearn K, Hoffman JE, Landau B. Developmental profiles for multiple object tracking and spatial memory: typiccaly developing preschoolers and people with Williams syndrome. Develop Sci. 2010;13(3):430-40.
36. Menghini D, Di Paola M, Murri R, Constanzo F, Caltagirone C, Vicari S. et al. Cerebellar vermis abnormalities and cognitive functions in individuals with Williams syndrome. Res in Develop Disab. 2013;34:2118-26.
37. Menghini D, Addona F, Constanzo F, Vicari S. Executive functions in individuals with Williams syndrome. Jour of Intel Disab. 2010;54(5):418-32.
38. Rhodes SM, Riby DM, Fraser E, Campbell LE. The extent of working memory deficits associated with Williams syndrome: Exploration of verbal and spatial domains and executively controlled processes. Brain and Cogn. 2011;77:208-14.
39. Martens MA, Jungers MK, Steele AL. Effect of musical experience on verbal memory in Williams syndrome: Evidence from a novel word leraning task. Neuropsych. 2011;49:3093-102.
40. Constanzo F, Vicari S, Carlesimo GA. Familiarity and recollection in Williams syndrome. Cortex. 2013;49:232-42.
Submetido em:
03/10/2013
Aceito em:
03/03/2014
Facebook
Twitter
LinkedIn
Mendeley
Email