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2020, Number 1-2

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Rev Mex Med Fis Rehab 2020; 32 (1-2)

Joubert syndrome: series of 3 cases and proposal for an approach in pediatric rehabilitation

Gutiérrez RZ, Yáñez MPE

Language: Spanish
References: 11
Page: 19-24
PDF size: 374.33 Kb.


ABSTRACT

Joubert's syndrome is considered a neurological disease of genetic origin, also known as ciliopathy, caused by a malformation at the level of the brain and cerebellum causing patonogmonic images for diagnosis at the level of the posterior fossa known as the "molar sign". It is an autosomal recessive and clinically heterogeneous presentation, ranging from axial or central hypotonia, ataxia, generalized developmental delay, respiratory and visual alterations, among others. The approach is usually diverse, complex and multidisciplinary, for this we require the use of tools that allow us to objectively monitor its evolution.


REFERENCES

  1. Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010; 5: 20.

  2. Parisi M, Glass I. Joubert syndrome. In: Adam M, Ardinger H, Pagon R, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 2003 (Updated 2017 Jun 29).

  3. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013; 12: 894-905.

  4. Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet. 2017; 54: 521-529.

  5. Sghir M, Salah AH, Toulguim E, Rekik M, Jerbi S, Kessomtini W. The management of Joubert Syndrome in Physical Medicine and Rehabilitation department. JMR. 2016; 2 (4): 94-96.

  6. Ipek Ö, Akyolcu Ö, Bayar B. Physiotherapy and rehabilitation in a Child with Joubert syndrome. Case Reports in Pediatrics. 2017; 2017(8076494).

  7. Cusin DA, da Costa C, Richieri-Costa A, Giacheti CM. Language, behavior and neurodevelopment in Joubert syndrome: a case report. CoDAS. 2016; 28 (6): 823-827.

  8. Gagliardi C, Brenna V, Romaniello R, Arrigoni F, Tavano A, Romani M et al. Cognitive rehabilitation in a child with Joubert syndrome: developmental trends and adaptive changes in a single. Res Dev Disabil. 2015; 47: 375-384.

  9. Seijas VA, Lugo LH, Cano B, Escobar LM, Quintero C, Nugraha B et al. Understanding community-based rehabilitation and the role of physical and rehabilitation medicine. Eur J Phys Rehabil Med. 2018; 54 (1): 90-99.

  10. Pollock A, van Wijck F. Cochrane overviews: how can we optimize their impact on evidence-based rehabilitation? Eur J Phys Rehabil Med. 2019; 55 (3): 395-410.

  11. Dempsey J, Phelps I, Bachmann-Gagescu R, Glass I, Tully H, Doherty D. Mortality in Joubert syndrome. Am J Med Genet. 2017; 173 (5): 1237-1242.




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