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Nasality in Friedreich ataxia. 2015

Matthew L Poole, and Jessica S Wee, and Joanne E Folker, and Louise A Corben, and Martin B Delatycki, and Adam P Vogel
Speech Neuroscience Unit, The University of Melbourne , Parkville, VIC , Australia .

Perceptual speech research in Friedreich ataxia (FRDA) has identified altered nasality as a key component of the dysarthria profile, however the incidence and severity of abnormal nasality remains unknown. Utilizing objective and perceptual methods, data on the relationship between resonance, disease duration, severity, age of onset and genetic profiles were collated. Thirty-seven participants with FRDA and 24 healthy controls provided contemporaneous speech samples for perceptual analysis, and single word samples for acoustic analysis. A subset of participants (eight participants with FRDA and eight controls) underwent nasometry assessment. Twenty-seven participants with FRDA presented with hypernasality and five with hyponasality on perceptual assessment. Acoustic analysis revealed participants with FRDA had greater nasality than controls (p < 0.05). Perceptual ratings of hypernasality correlated with GAA2 repeat length (ρ = 0.37, p = 0.03). Findings highlight the variability of nasality in FRDA, potentially reflecting variation in the neuropathological profile. Data also suggest the influence of genetic profiles on nasality.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D004401 Dysarthria Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489) Hyperkinetic Dysarthria,Hypokinetic Dysarthria,Scanning Speech,Dysarthosis,Dysarthria, Flaccid,Dysarthria, Guttural,Dysarthria, Mixed,Dysarthria, Scanning,Dysarthria, Spastic,Dysarthoses,Dysarthria, Hyperkinetic,Dysarthria, Hypokinetic,Dysarthrias,Dysarthrias, Flaccid,Dysarthrias, Guttural,Dysarthrias, Hyperkinetic,Dysarthrias, Hypokinetic,Dysarthrias, Mixed,Dysarthrias, Scanning,Dysarthrias, Spastic,Flaccid Dysarthria,Flaccid Dysarthrias,Guttural Dysarthria,Guttural Dysarthrias,Hyperkinetic Dysarthrias,Hypokinetic Dysarthrias,Mixed Dysarthria,Mixed Dysarthrias,Scanning Dysarthria,Scanning Dysarthrias,Scanning Speechs,Spastic Dysarthria,Spastic Dysarthrias,Speechs, Scanning
D005260 Female Females
D005621 Friedreich Ataxia An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) Friedreich Disease,Hereditary Spinal Sclerosis,Sclerosis, Hereditary Spinal,Friedreich Familial Ataxia,Friedreich Hereditary Ataxia,Friedreich Hereditary Spinal Ataxia,Friedreich Spinocerebellar Ataxia,Friedreich's Ataxia,Friedreich's Disease,Friedreich's Familial Ataxia,Friedreich's Hereditary Ataxia,Friedreich's Hereditary Spinal Ataxia,Hereditary Spinal Ataxia, Friedreich,Hereditary Spinal Ataxia, Friedreich's,Ataxia, Friedreich,Ataxia, Friedreich Familial,Ataxia, Friedreich Hereditary,Ataxia, Friedreich Spinocerebellar,Ataxia, Friedreich's,Ataxia, Friedreich's Familial,Ataxia, Friedreich's Hereditary,Ataxias, Friedreich,Ataxias, Friedreich's Hereditary,Disease, Friedreich,Disease, Friedreich's,Familial Ataxia, Friedreich,Familial Ataxia, Friedreich's,Friedreich Ataxias,Friedreich's Hereditary Ataxias,Friedreichs Familial Ataxia,Friedreichs Hereditary Ataxia,Hereditary Ataxia, Friedreich,Hereditary Ataxia, Friedreich's,Hereditary Ataxias, Friedreich's,Hereditary Spinal Scleroses,Scleroses, Hereditary Spinal,Spinal Scleroses, Hereditary,Spinal Sclerosis, Hereditary,Spinocerebellar Ataxia, Friedreich
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001184 Articulation Disorders Disorders of the quality of speech characterized by the substitution, omission, distortion, and addition of phonemes. Phonological Impairments,Speech Articulation Disorders,Articulation Disorders, Developmental,Developmental Articulation Disorders,Disarticulation Disorders,Misarticulation,Phonology Impairment,Unintelligible Articulation,Articulation Disorder,Articulation Disorder, Developmental,Articulation Disorder, Speech,Articulation Disorders, Speech,Articulation, Unintelligible,Articulations, Unintelligible,Developmental Articulation Disorder,Disarticulation Disorder,Disorder, Disarticulation,Disorders, Disarticulation,Impairment, Phonological,Impairment, Phonology,Impairments, Phonological,Impairments, Phonology,Phonological Impairment,Phonology Impairments,Speech Articulation Disorder,Unintelligible Articulations
D013018 Sound Spectrography The graphic registration of the frequency and intensity of sounds, such as speech, infant crying, and animal vocalizations. Sonography, Speech,Sonography, Sound,Speech Sonography,Sonographies, Sound,Sound Sonographies,Sound Sonography,Spectrography, Sound

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