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患有黏多糖贮积症和成骨不全症的儿童和青少年:多专业团队中的牙科治疗

Children and Adolescents with Mucopolysaccharidosis and Osteogenesis Imperfecta: The Dentistry on the Multiprofessional Team.

作者信息

Celestino Mariana Laís Silva, Carneiro Natália Cristina Ruy, Prado Heloisa Vieira, Cabral Glória Maria Pimenta, Abreu Mauro Henrique Nogueira Guimarães, Borges-Oliveira Ana Cristina

机构信息

School of Dentistry, Department of Social and Preventive Dentistry, Universidade Federal de Minas Gerais, Avenida Antônio Carlos, 6627, Belo Horizonte 31270-901, MG, Brazil.

Faculty of Dentistry, Anhanguera, Rua dos Timbiras, 1375, Funcionários, Belo Horizonte 30140-060, MG, Brazil.

出版信息

J Pers Med. 2025 Jul 18;15(7):323. doi: 10.3390/jpm15070323.

DOI:10.3390/jpm15070323
PMID:40710440
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12300752/
Abstract

To identify factors associated with the referral by a multiprofessional team to dental services for children and adolescents with rare genetic diseases. A cross-sectional study was developed with 87 children/adolescents with mucopolysaccharidosis ( = 26) and osteogenesis imperfecta ( = 61) and their caregivers. Recruitment took place at reference centers for rare genetic conditions in five Brazilian states. The caregivers answered a questionnaire on the children. They were examined for malocclusion, dental anomalies, caries experience, and gingivitis. Bivariate and multivariate analyses of the data were performed, considering a 95% confidence level. The average age of children/adolescents was 10.4 years (±5.6) and 17.3% had never gone to a dentist. Among those with past dental experience, the reason for most appointments was oral prophylaxis/preventive maintenance (62.1%). With regard to referrals to a dentist by the multidisciplinary team, 29.9% had never received a referral. The likelihood of having been referred to a dentist by the multiprofessional team was 2.67 times greater for female patients (95% CI: 0.96-7.42) and 7.74 times greater for children/adolescents with a history of toothache (95% CI: 1.61-37.14). : Female children/adolescents with mucopolysaccharidosis and osteogenesis imperfecta and those with a history of dental pain were more likely to have been advised by the multiprofessional team to seek dental treatment.

摘要

确定多专业团队将患有罕见遗传病的儿童和青少年转诊至牙科服务机构的相关因素。对87名患有黏多糖贮积症(n = 26)和成骨不全症(n = 61)的儿童/青少年及其照顾者开展了一项横断面研究。研究在巴西五个州的罕见遗传病参考中心进行招募。照顾者回答了一份关于儿童的问卷。对他们进行了错牙合、牙齿异常、龋齿经历和牙龈炎检查。考虑到95%的置信水平,对数据进行了双变量和多变量分析。儿童/青少年的平均年龄为10.4岁(±5.6),17.3%的人从未看过牙医。在有过看牙经历的人中,大多数就诊原因是口腔预防/预防性维护(62.1%)。关于多学科团队将患者转诊至牙医处,29.9%的人从未接受过转诊。女性患者被多专业团队转诊至牙医处的可能性高2.67倍(95%可信区间:0.96 - 7.42),有牙痛病史的儿童/青少年被转诊的可能性高7.74倍(95%可信区间:1.61 - 37.14)。结论:患有黏多糖贮积症和成骨不全症的女性儿童/青少年以及有牙痛病史的儿童/青少年更有可能被多专业团队建议寻求牙科治疗。

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Children and Adolescents with Mucopolysaccharidosis and Osteogenesis Imperfecta: The Dentistry on the Multiprofessional Team.患有黏多糖贮积症和成骨不全症的儿童和青少年:多专业团队中的牙科治疗
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本文引用的文献

1
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.巴西罕见病的流行病学特征:巴西罕见病网络的回顾性研究。
Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7.
2
Correction: The role of dental pain and psychosocial factors on the relationship between dental caries and oral health-related quality of life in children.更正:儿童龋齿与口腔健康相关生活质量关系中牙痛和社会心理因素的作用
BMC Oral Health. 2022 Nov 4;22(1):467. doi: 10.1186/s12903-022-02541-3.
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Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.考虑罕见病专业中心的口腔健康:使用文本挖掘提取方法对 39 种罕见病的回顾性研究。
Orphanet J Rare Dis. 2022 Aug 20;17(1):317. doi: 10.1186/s13023-022-02467-7.
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Health Care to people with disability: the formation of teams and geographical distribution of the rehabilitation specialized component.为残疾人提供的医疗保健:康复专业人员队伍的组建和地理分布。
Codas. 2021 Apr 12;33(1):e20190184. doi: 10.1590/2317-1782/20202019184. eCollection 2021.
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Assessing rare diseases prevalence using literature quantification.利用文献计量学评估罕见病的患病率。
Orphanet J Rare Dis. 2021 Mar 20;16(1):139. doi: 10.1186/s13023-020-01639-7.
6
Assessment of dental pain in children with intellectual disability using the dental discomfort questionnaire.使用牙科不适问卷评估智障儿童的牙痛
J Intellect Disabil. 2021 Jan 27:1744629520981318. doi: 10.1177/1744629520981318.
7
Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study.母亲的综合感知能力与成骨不全症患儿和青少年的牙齿特征:配对研究。
Spec Care Dentist. 2021 Mar;41(2):170-177. doi: 10.1111/scd.12560. Epub 2021 Jan 13.
8
Malocclusion in individuals with osteogenesis imperfecta: A systematic review and meta-analysis.成骨不全症患者的错颌畸形:系统评价和荟萃分析。
Oral Dis. 2022 Mar;28(2):314-325. doi: 10.1111/odi.13715. Epub 2020 Nov 22.
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From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil.从诊断探索到治疗不确定性:巴西罕见遗传病护理面临的挑战
Cien Saude Colet. 2019 Sep 26;24(10):3637-3650. doi: 10.1590/1413-812320182410.01612019. eCollection 2019.
10
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.估算罕见病的累计点患病率:对孤儿药数据库的分析。
Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16.