Speech difficulties in Joubert syndrome

Mahdi Khodadoust; Mojtaba Pourzaki; Leila Ghelichi

Koomesh

Journal of Semnan University of Medical Sciences

All Issues In Press Accepted Manuscripts Search

Journal Information Editors & Boards Indexing and Listing Sources Journal Metrics Open Peer Review (OPR)Publication Ethics and Publication Malpractice Statement Reviewer and AE Registration Form Support Contact Us

APC

Authors Guide Submit Manuscript

Speech difficulties in Joubert syndrome

Author(s):

Mahdi Khodadoust,

Mojtaba Pourzaki,

Leila Ghelichi

^,*

Koomesh:Vol. 21, issue 2; 387-390

Published online:Jul 02, 2019

Article type:Research Article

Received:Apr 01, 2017

Accepted:Oct 02, 2018

How to Cite:Khodadoust M, Pourzaki M, Ghelichi L. Speech difficulties in Joubert syndrome. koomesh. 2019;21(2):e153083. doi:

Abstract

Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been less attention. Some studies report speech features such as sound deletion and distortion, low speech intelligibility, delay in first word and morphology. Few reports of this syndrome have focused on the structural and functional aspects that seen in radiographic images and there has been little attention to growth retardation symptoms such as speech disorders. Speech and language pathologist in dealing with this syndrome requires knowledge of its symptoms and signs in order to be able to determine the treatment priorities and prognosis. The present report describes the syndrome symptoms of the two sisters, 3 and 7 years old. Case reports: A psychiatrist referred Fatima (7 years old) to a private speech-language pathology clinic in Mashhad (Iran). In the first session, it became clear that younger sister (Yasna) has the same syndrome. Two speech-language pathologist evaluated Yasna and Fatima. Fatima speech features include: low quality, low pitch, poor intensity, increasing the overall quality of voice with increasing intensity, maximum phonation time: 5s, mild hypernasality. Speech intelligibility for parents and strangers is70 and 50 percent relatively. Much of the fricatives become explosive and deviation is less in explosive consonants. Fronting is the most common phonological process. Low oral pressure leads to poor production in oral consonants such as/p/and/t/. The results of evaluations in Yasna indicated: speech intelligibility for parents and for the stranger is 70 and 50 percentage, maximum phonation time is7seconds, and thoracic–abdominal breathing pattern. Conversion of fricatives and glides to explosive. Fronting is the most common phonological process Conclusion: Due to the mismatch of speech features of these patients, speech marks of this syndrome seem require further review through Studies with larger sample size

Keywords

References

1.
Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969; 19: 813-825.
2.
Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropaediatrie 1977; 8: 57-66.
3.
Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992; 43: 726-731.
4.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999; 14: 660-666.
5.
Braddock BA, Farmer JE, Deidrick KM, Iverson JM, Maria BL Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia. J Child Neurol 2006; 21: 160-163.
6.
Maleki M, et al. Joubert syndrome in an eighth month infant. Med J Tabriz Univ Med Sci 2010; 31: 90-94. (Persian).
7.
Maria BL1, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997; 12: 423-430.
8.
Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert syndrome: a clinico-radiological study. Neuroradiology 1990; 31: 502-506.
9.
Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. Molar tooth sign of the midbrainhindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125: 125-134##.

Suspected to schizophrenia with disorganized behavior in autistic child

Jhaleh Nilsaz

Nilsaz J. Suspected to schizophrenia with disorganized behavior in autistic child. Jentashapir J Cell Mol Biol. 2013;3(4):. doi:

18

Dec

2019

Zahedan Journal of Research in Medical Sciences

Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report

Forouzan Elyasi,

Arghavan Fariborzifar,

Zahra Kashi

Elyasi F, Fariborzifar A, Kashi Z. Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report. Zahedan J Res Med Sci. 2019;22(1):e64126. doi: https://doi.org/10.5812/zjrms.64126

29

May

2016

Atypical Frotteurism Associated with Voyeurism and Obsession in a Six-Year-Old Boy

Reza Bidaki,

Ehsan Arjmandzadeh,

Sara Talebi

Bidaki R, Arjmandzadeh E, Talebi S. Atypical Frotteurism Associated with Voyeurism and Obsession in a Six-Year-Old Boy. Thrita J Neu. 2016;5(2):e36536. doi: https://doi.org/10.5812/thritaj.36536

13

Feb

2012

Joubert Syndrome

Ali Khaje,

Mohammad Elahifar

Khaje A, Elahifar M. Joubert Syndrome. Zahedan J Res Med Sci. 2012;14(6):e93432. doi:

16

Nov

2020

Differentiation of Zaghrouta, Ululation to Express Joy in the Middle East, from Movement Disorders and Other Conditions

Tarek Elshourbagy,

Aliaa Mousa,

Mona Adel Mohamed,

James Robert Brasic

Elshourbagy T, Mousa A, Adel Mohamed M, Robert Brasic J. Differentiation of Zaghrouta, Ululation to Express Joy in the Middle East, from Movement Disorders and Other Conditions. J Health Rep Technol. 2020;7(1):e106655. doi: https://doi.org/10.5812/ijhls.106655

Import into EndNote Import into BibTex

Share on

Comments

Number of Comments:0

Cited by

Scopus by DOI: 0
Last Update: 3 weeks ago
Scopus by Title: 1
Last Update: 3 weeks ago
Scopus by Title (Ref): 1
Last Update: 3 weeks ago
CrossRef: 0
Last Update: 3 days ago

Metrics

Ordering Reprints

Articles are published under the Creative Commons license stated on each article. No permission or royalty fee is required for uses permitted by that license. CCC handles optional bulk and customized reprint orders. Any quotation covers production and delivery services only, not copyright permission. > Request Reprints from CCC

Search Relations

Author(s):

Mahdi Khodadoust:[PubMed][Scholar]
Mojtaba Pourzaki:[PubMed][Scholar]
Leila Ghelichi:[PubMed][Scholar]

Journal of Semnan University of Medical Sciences

Outlines

Speech difficulties in Joubert syndrome

Abstract

References

Similar Articles

Suspected to schizophrenia with disorganized behavior in autistic child

Psychopathology in a Patient with Lujan-Fryns Syndrome: A Case Report

Atypical Frotteurism Associated with Voyeurism and Obsession in a Six-Year-Old Boy

Joubert Syndrome

Differentiation of Zaghrouta, Ululation to Express Joy in the Middle East, from Movement Disorders and Other Conditions

Last Update: 3 weeks ago

Last Update: 3 weeks ago

Last Update: 3 weeks ago

Last Update: 3 days ago