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 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.
Braddock
Barbara A
BA
Department of Psychological Sciences, University of Missouri-Columbia, USA.
Farmer
Janet E
JE
Deidrick
Kathleen M
KM
Iverson
Jana M
JM
Maria
Bernard L
BL
D000293:Adolescent; D001072:Apraxias / Q000235:genetics*; D001933:Brain Stem / Q000002:abnormalities*; D002529:Cerebellar Nuclei / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003142:Communication; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004401:Dysarthria / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D009847:Olivary Nucleus / Q000002:abnormalities*; D010700:Phonetics; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D013068:Speech Production Measurement; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome