ATAXIA, ASAPHIA, AND APRAXIA IN SPEECH

Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.

Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ...

Developmental Apraxia of Speech

Assessment and treatment of childhood apraxia of speech: An inquiry into knowledge and experience of speech-language pathologists

Objectives: The present research aimed to identify the assessment and treatment processes implemented by Iranian speech-language pathologists (SLPs) for CAS and to investigate the possibility of impact of their knowledge level and years of experience on their choice of assessment and treatment. Methods: A cross-sectional method using survey design was employed to obtain a sample of 260 SLPs w...

Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism

Purpose: To disclose the association between spinocerebellar ataxia with oculomotor apraxia and high grade (7 diopters) congenital astigmatism. Methods: Single observational case report. A 39-year-old patient affected by spinocerebellar ataxia from the age of 20 was submitted to genetic and ophthalmic investigations to reach a diagnosis. Results: Genetic testing did not lead to a sure diagnosis...

The Apraxia of Speech Rating Scale: a tool for diagnosis and description of apraxia of speech.

UNLABELLED The purpose of this report is to describe an initial version of the Apraxia of Speech Rating Scale (ASRS), a scale designed to quantify the presence or absence, relative frequency, and severity of characteristics frequently associated with apraxia of speech (AOS). In this paper we report intra-judge and inter-judge reliability, as well as indices of validity, for the ASRS which was c...