Joubert Syndrome: Diagnostic Evaluation and Follow-up

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
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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.
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Joubert综合征:诊断评估和随访
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。
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来源期刊
CiteScore
0.40
自引率
0.00%
发文量
52
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.
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