Oromotor and Communication Findings in Joubert Syndrome: Further Evidence of Multisystem Apraxia

This study provides descriptive information in the areas of oromotor abilities and communication to better understand the spectrum of disability in individuals with Joubert syndrome. Participants included 21 individuals with the diagnosis of Joubert syndrome (mean age 10.45 years). Participants comp...

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Bibliographic Details
Published in:Journal of child neurology 2006-02, Vol.21 (2), p.160-163
Main Authors: Braddock, Barbara A., Farmer, Janet E., Deidrick, Kathleen M., Iverson, Jana M., Maria, Bernard L.
Format: Article
Language:English
Subjects:
Adolescent
Apraxias - genetics
Brain Stem - abnormalities
Cerebellar Nuclei - abnormalities
Cerebellum - abnormalities
Child
Child, Preschool
Communication
Developmental Disabilities - diagnosis
Developmental Disabilities - genetics
Dysarthria - diagnosis
Dysarthria - genetics
Female
Humans
Male
Oculomotor Nerve Diseases - diagnosis
Oculomotor Nerve Diseases - genetics
Olivary Nucleus - abnormalities
Phonetics
Psychomotor Disorders - diagnosis
Psychomotor Disorders - genetics
Speech Production Measurement
Spinocerebellar Degenerations - diagnosis
Spinocerebellar Degenerations - genetics
Syndrome
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Summary:This study provides descriptive information in the areas of oromotor abilities and communication to better understand the spectrum of disability in individuals with Joubert syndrome. Participants included 21 individuals with the diagnosis of Joubert syndrome (mean age 10.45 years). Participants completed oromotor and receptive language measures. In addition, all of the participants' speech and gesture communication from a narrative task was coded and analyzed from videotape. Caregivers reported the participants' level of fine and gross motor function. The results show that individuals with Joubert syndrome exhibit a distinct oromotor pattern consistent with verbal and lingual apraxias. Despite significant motor skills deficits and oculomotor apraxia, persons with Joubert syndrome produced gestures when communicating, and those whose speech was less intelligible used a higher rate of gesture compared with those with greater verbal output. These findings suggest a new form of apraxia not previously described in the condition and are consistent with previous research that suggests that persons with Joubert syndrome typically do not exhibit classic symptoms of autism spectrum disorder. (J Child Neurol 2006;21:160—163; DOI 10.2310/7010.2006.00021).
ISSN:0883-0738
1708-8283
DOI:10.1177/08830738060210020501