Joubert综合征:诊断评估和随访

IF 0.2 Q4 PEDIATRICS Journal of pediatric neurology Pub Date : 2022-08-22 DOI:10.1055/s-0042-1759532

C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo

{"title":"Joubert综合征:诊断评估和随访","authors":"C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo","doi":"10.1055/s-0042-1759532","DOIUrl":null,"url":null,"abstract":"Abstract The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"242 1","pages":"053 - 057"},"PeriodicalIF":0.2000,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Joubert Syndrome: Diagnostic Evaluation and Follow-up\",\"authors\":\"C. Cuppari, I. Ceravolo, Alessio Mancuso, G. Farello, G. Iapadre, Luca Zagaroli, G. Nanni, M. Ceravolo\",\"doi\":\"10.1055/s-0042-1759532\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.\",\"PeriodicalId\":16729,\"journal\":{\"name\":\"Journal of pediatric neurology\",\"volume\":\"242 1\",\"pages\":\"053 - 057\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2022-08-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0042-1759532\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0042-1759532","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

摘要

儿童遗传综合征的随访必须是多学科的，因为问题的多样性，需要不同专家之间的密切合作。首要目标是全面照顾儿童及其家人，无论疾病是否罕见和复杂，以获得尽可能最高程度的身心健康和自主。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

Joubert Syndrome: Diagnostic Evaluation and Follow-up

Abstract The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.