Speech difficulties in Joubert syndrome

authors:

avatar Mahdi Khodadoust , avatar Mojtaba Pourzaki , avatar Leila Ghelichi ORCID , *

Koomesh: Vol.21, issue 2; 387-390
published online: July 02, 2019
article type: Research Article
received: April 01, 2017
accepted: October 02, 2018

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

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

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