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Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria

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Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria. / Dias, Cristina; Santos, Manuela; Ribeiro, Adriana et al.

In: Sinapse, Vol. 7, No. 1, 01.05.2007, p. 10-17.

Research output: Contribution to journalArticlepeer-review

Harvard

Dias, C, Santos, M, Ribeiro, A, Carrilho, I, Lima, MR, Barbot, C & Chorão, R 2007, 'Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria', Sinapse, vol. 7, no. 1, pp. 10-17.

APA

Dias, C., Santos, M., Ribeiro, A., Carrilho, I., Lima, M. R., Barbot, C., & Chorão, R. (2007). Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria. Sinapse, 7(1), 10-17.

Vancouver

Dias C, Santos M, Ribeiro A, Carrilho I, Lima MR, Barbot C et al. Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria. Sinapse. 2007 May 1;7(1):10-17.

Author

Dias, Cristina ; Santos, Manuela ; Ribeiro, Adriana et al. / Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria. In: Sinapse. 2007 ; Vol. 7, No. 1. pp. 10-17.

Bibtex Download

@article{b1404f52dc864e128f33c2d81ae7bc0b,
title = "Aplica{\c c}{\~a}o dos crit{\'e}rios de diagn{\'o}stico de s{\'i}ndrome de Angelman actualizados aos doentes da consulta de neuropediatria",
abstract = "Introduction: Angelman Syndrome is a genetic disorder characterized by mental retardation, severe language deficit, movement disorder, EEG abnormalities (with or without seizures) and distinctive behavior. AS can be caused by different molecular mechanisms that lead to loss of maternal contribution of the 15q11.2-q13 chromosomal region; most cases are caused by deletion of the maternal allele or paternal uniparental disomy and in 10% they are due to point mutations in the UBE3A gene. In 10 to 15% of patients, genetic analysis is negative, which does not exclude the clinical diagnosis. In those patients with a 15q deletion a more severe presentation, with difficult to treat epilepsy has been described. Recently, the diagnostic criteria were updated (Williams et al, 2006). Objectives: The aim of this study was to review the patients with Angelman Syndrome followed at the Pediatric Neurology Department of our Hospital according to the updated diagnostic criteria, to ascertain a genotype-phenotype correlation and to review the literature. Methods: Fifteen patients were selected from the Pediatric Neurology database with a clinical diagnosis of AS; they were reassessed according to the updated diagnostic criteria for AS and their EEGs were reevaluated. All had southern blot or MSP-PCR analysis performed to detect deletion and/or uniparental disomy of the 15q11.2-q13 region. In one patient mutation analysis of the UBE3A gene was performed. Results: Three patients were excluded for not fulfilling the diagnostic criteria and one who was no longer followed and had insufficient data. Eleven patients fulfilled the updated diagnostic criteria. Of these, seven had a deletion or uniparental disomy of the 15q11.2-q13 region. In two patients no abnormality was found by southern blot; mutation analysis of the UBE3A gene was performed in one of these, but no point mutations were detected. All patients had abnormal EEG recordings. The most frequent pattern was posterior high-amplitude slow wave discharges with mixed spikes. Discussion and Conclusions: The diagnostic technique most frequently used (southern blot), could not discriminate the presence of a deletion or uniparental disomy in two patients, not allowing a genotype-phenotye correlation. The use of the updated diagnostic criteria supported the previous diagnosis in 11 patients. These criteria should be used for clinical evaluation prior to the request for genetic analysis. Even so, in some patients with a clinical diagnosis it is not yet possible to confirm the genetic disorder.",
keywords = "15q11.2-q13, Angelman syndrome, EEG, Epilepsy, Imprinting, Mental retardation",
author = "Cristina Dias and Manuela Santos and Adriana Ribeiro and In{\^e}s Carrilho and Lima, {Margarida Reis} and Clara Barbot and Rui Chor{\~a}o",
year = "2007",
month = may,
day = "1",
language = "Portuguese",
volume = "7",
pages = "10--17",
journal = "Sinapse",
issn = "1645-281X",
publisher = "Sociedade Portuguesa de Neurologia",
number = "1",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria

AU - Dias, Cristina

AU - Santos, Manuela

AU - Ribeiro, Adriana

AU - Carrilho, Inês

AU - Lima, Margarida Reis

AU - Barbot, Clara

AU - Chorão, Rui

PY - 2007/5/1

Y1 - 2007/5/1

N2 - Introduction: Angelman Syndrome is a genetic disorder characterized by mental retardation, severe language deficit, movement disorder, EEG abnormalities (with or without seizures) and distinctive behavior. AS can be caused by different molecular mechanisms that lead to loss of maternal contribution of the 15q11.2-q13 chromosomal region; most cases are caused by deletion of the maternal allele or paternal uniparental disomy and in 10% they are due to point mutations in the UBE3A gene. In 10 to 15% of patients, genetic analysis is negative, which does not exclude the clinical diagnosis. In those patients with a 15q deletion a more severe presentation, with difficult to treat epilepsy has been described. Recently, the diagnostic criteria were updated (Williams et al, 2006). Objectives: The aim of this study was to review the patients with Angelman Syndrome followed at the Pediatric Neurology Department of our Hospital according to the updated diagnostic criteria, to ascertain a genotype-phenotype correlation and to review the literature. Methods: Fifteen patients were selected from the Pediatric Neurology database with a clinical diagnosis of AS; they were reassessed according to the updated diagnostic criteria for AS and their EEGs were reevaluated. All had southern blot or MSP-PCR analysis performed to detect deletion and/or uniparental disomy of the 15q11.2-q13 region. In one patient mutation analysis of the UBE3A gene was performed. Results: Three patients were excluded for not fulfilling the diagnostic criteria and one who was no longer followed and had insufficient data. Eleven patients fulfilled the updated diagnostic criteria. Of these, seven had a deletion or uniparental disomy of the 15q11.2-q13 region. In two patients no abnormality was found by southern blot; mutation analysis of the UBE3A gene was performed in one of these, but no point mutations were detected. All patients had abnormal EEG recordings. The most frequent pattern was posterior high-amplitude slow wave discharges with mixed spikes. Discussion and Conclusions: The diagnostic technique most frequently used (southern blot), could not discriminate the presence of a deletion or uniparental disomy in two patients, not allowing a genotype-phenotye correlation. The use of the updated diagnostic criteria supported the previous diagnosis in 11 patients. These criteria should be used for clinical evaluation prior to the request for genetic analysis. Even so, in some patients with a clinical diagnosis it is not yet possible to confirm the genetic disorder.

AB - Introduction: Angelman Syndrome is a genetic disorder characterized by mental retardation, severe language deficit, movement disorder, EEG abnormalities (with or without seizures) and distinctive behavior. AS can be caused by different molecular mechanisms that lead to loss of maternal contribution of the 15q11.2-q13 chromosomal region; most cases are caused by deletion of the maternal allele or paternal uniparental disomy and in 10% they are due to point mutations in the UBE3A gene. In 10 to 15% of patients, genetic analysis is negative, which does not exclude the clinical diagnosis. In those patients with a 15q deletion a more severe presentation, with difficult to treat epilepsy has been described. Recently, the diagnostic criteria were updated (Williams et al, 2006). Objectives: The aim of this study was to review the patients with Angelman Syndrome followed at the Pediatric Neurology Department of our Hospital according to the updated diagnostic criteria, to ascertain a genotype-phenotype correlation and to review the literature. Methods: Fifteen patients were selected from the Pediatric Neurology database with a clinical diagnosis of AS; they were reassessed according to the updated diagnostic criteria for AS and their EEGs were reevaluated. All had southern blot or MSP-PCR analysis performed to detect deletion and/or uniparental disomy of the 15q11.2-q13 region. In one patient mutation analysis of the UBE3A gene was performed. Results: Three patients were excluded for not fulfilling the diagnostic criteria and one who was no longer followed and had insufficient data. Eleven patients fulfilled the updated diagnostic criteria. Of these, seven had a deletion or uniparental disomy of the 15q11.2-q13 region. In two patients no abnormality was found by southern blot; mutation analysis of the UBE3A gene was performed in one of these, but no point mutations were detected. All patients had abnormal EEG recordings. The most frequent pattern was posterior high-amplitude slow wave discharges with mixed spikes. Discussion and Conclusions: The diagnostic technique most frequently used (southern blot), could not discriminate the presence of a deletion or uniparental disomy in two patients, not allowing a genotype-phenotye correlation. The use of the updated diagnostic criteria supported the previous diagnosis in 11 patients. These criteria should be used for clinical evaluation prior to the request for genetic analysis. Even so, in some patients with a clinical diagnosis it is not yet possible to confirm the genetic disorder.

KW - 15q11.2-q13

KW - Angelman syndrome

KW - EEG

KW - Epilepsy

KW - Imprinting

KW - Mental retardation

UR - http://www.scopus.com/inward/record.url?scp=34249939944&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:34249939944

VL - 7

SP - 10

EP - 17

JO - Sinapse

JF - Sinapse

SN - 1645-281X

IS - 1

ER -

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