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Manifestações orais associadas à sindrome de Prader-Willi: revisão integrativa
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A síndrome de Prader-Willi (SPW) é uma condição genética rara, causada pela ausência de expressão dos genes de origem paterna localizados na região 15q11.2–q13 do cromossoma 15, essencialmente devido a falhas no mecanismo de imprinting genómico. Além das suas características sistémicas marcantes, como hipotonia, hiperfagia e atraso no desenvolvimento neuropsicomotor, apresenta também diversas manifestações orais que exigem atenção especializada e acompanhamento contínuo por parte do médico dentista. Esta revisão integrativa teve como objetivo analisar a evidência clínica existente sobre as manifestações orais da SPW, com base em estudos publicados entre 2014 e 2024. A pesquisa bibliográfica foi realizada nas bases de dados PubMed, ScienceDirect e B-On, tendo sido incluídos oito estudos que cumpriram os critérios de elegibilidade. Os resultados revelaram que as alterações orais mais comuns em pacientes com SPW são a presença de cáries, presença de esmalte hipoplásico, gengivite e saliva viscosa. É fundamental que o médico dentista conheça a patologia da SPW e as alterações comportamentais que lhe estão associadas, uma vez que estas poderão apresentar-se como um verdadeiro desafio à realização de um tratamento dentário adequado. Além disso, o próprio médico dentista deverá integrar a equipa multidisciplinar que acompanha estes pacientes. O acompanhamento dentário contínuo e adaptado à realidade da pessoa com SPW é determinante não só para preservar a saúde oral, mas também para melhorar funções vitais como a mastigação, deglutição e fala, além de promover autoestima e bem estar social. Verificou-se um número limitado de estudos neste âmbito nos últimos anos. Sendo uma condição genética com uma influência significativa tanto na saúde oral como na saúde geral seria pertinente a existência de mais estudos que possam melhor compreender as implicações desta síndrome.
Prader-Willi syndrome (PWS) is a rare genetic condition caused by the absence of expression of paternally inherited genes located in the 15q11.2–q13 region of chromosome 15, essentially due to failures in the genomic imprinting mechanism. In addition to its striking systemic characteristics, such as hypotonia, hyperphagia and delayed neuropsychomotor development, it also presents several oral manifestations that require specialized attention and continuous monitoring by the dentist. This integrative review aimed to analyze the existing clinical evidence on the oral manifestations of PWS, based on studies published between 2014 and 2024. The bibliographic search was carried out in the PubMed, ScienceDirect and B-On databases, and eight studies that met the eligibility criteria were included. The results revealed that the most common oral alterations in patients with PWS are the presence of caries, hypoplastic enamel, gingivitis and viscous saliva. It is essential that dentists are familiar with the pathology of PWS and the behavioral changes associated with it, as these can be a real challenge to adequate dental treatment. Furthermore, dentists themselves should be part of the multidisciplinary team that treats these patients. Continuous dental care adapted to the reality of people with PWS is essential not only to preserve oral health, but also to improve vital functions such as chewing, swallowing and speech, as well as promoting self-esteem and social well-being. A limited number of studies was observed in this area in recent years. Since it is a genetic condition that influences both oral and general health, it would be relevant to have more studies to better understand the implications of this syndrome.
Prader-Willi syndrome (PWS) is a rare genetic condition caused by the absence of expression of paternally inherited genes located in the 15q11.2–q13 region of chromosome 15, essentially due to failures in the genomic imprinting mechanism. In addition to its striking systemic characteristics, such as hypotonia, hyperphagia and delayed neuropsychomotor development, it also presents several oral manifestations that require specialized attention and continuous monitoring by the dentist. This integrative review aimed to analyze the existing clinical evidence on the oral manifestations of PWS, based on studies published between 2014 and 2024. The bibliographic search was carried out in the PubMed, ScienceDirect and B-On databases, and eight studies that met the eligibility criteria were included. The results revealed that the most common oral alterations in patients with PWS are the presence of caries, hypoplastic enamel, gingivitis and viscous saliva. It is essential that dentists are familiar with the pathology of PWS and the behavioral changes associated with it, as these can be a real challenge to adequate dental treatment. Furthermore, dentists themselves should be part of the multidisciplinary team that treats these patients. Continuous dental care adapted to the reality of people with PWS is essential not only to preserve oral health, but also to improve vital functions such as chewing, swallowing and speech, as well as promoting self-esteem and social well-being. A limited number of studies was observed in this area in recent years. Since it is a genetic condition that influences both oral and general health, it would be relevant to have more studies to better understand the implications of this syndrome.
Descrição
Palavras-chave
Síndrome de Prader-Willi Manifestações orais SPW Saúde oral Correlação Prader-Willi syndrome Oral manifestations PWS Oral health Correlation