Diagnostic Distortions: A Case Report of Progressive Apraxia of Speech.
Apraxia of speech (AOS) can be the presenting symptom of neurodegenerative disease. The position of primary progressive AOS in the nosology of the dementias is still controversial. Despite seeing many specialists, patients are often misdiagnosed, in part due to a lack of quantitative measures of speech dysfunction. We present a single case report of a patient presenting with AOS, including acoustic analysis, language assessment, and brain imaging. A 52-year-old woman presenting with AOS had remained undiagnosed for 6 years despite seeing 8 specialists. Results of her MRI scans, genetic testing, and computerized speech analysis are provided. AOS is an underdiagnosed clinical syndrome causing great distress to patients and families. Using acoustic analysis of speech may lead to improved diagnostic accuracy. AOS is a complex entity with an expanding phenotype, and quantitative clinical measures will be critical for detection and to assess progression.
Eastern Cognitive Disorders Clinic, Department of Medicine, Monash University, Box Hill, Melbourne, Australia.|The Florey Institute of Neuroscience and Mental Health, Heidelberg, Melbourne, Australia.|Department of Medicine, University of Melbourne, Parkville, Melbourne, Australia.
Amy
A
Brodtmann
Eastern Cognitive Disorders Clinic, Department of Medicine, Monash University, Box Hill, Melbourne, Australia.|The Florey Institute of Neuroscience and Mental Health, Heidelberg, Melbourne, Australia.
Hugh
H
Pemberton
Eastern Cognitive Disorders Clinic, Department of Medicine, Monash University, Box Hill, Melbourne, Australia.|The Florey Institute of Neuroscience and Mental Health, Heidelberg, Melbourne, Australia.|Department of Medicine, University of Melbourne, Parkville, Melbourne, Australia.
David
D
Darby
Eastern Cognitive Disorders Clinic, Department of Medicine, Monash University, Box Hill, Melbourne, Australia.|The Florey Institute of Neuroscience and Mental Health, Heidelberg, Melbourne, Australia.|Centre for Neuroscience of Speech, University of Melbourne, Parkville, Melbourne, Australia.
Adam P
AP
Vogel
D018888:Aphasia, Primary Progressive / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D001072:Apraxias / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging*; D000073885:C9orf72 Protein / Q000235:genetics; D003933:Diagnosis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009483:Neuropsychological Tests; D015899:Tomography, Emission-Computed, Single-Photon
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human
Apraxia of speech; corticobasal syndrome; frontotemporal dementia; voice acoustic analysis