ABSTRACT
OBJECTIVE: Recognition of the phenotypic spectrum and prognosis of a genetic disorder is critical to proper patient care. A 7-year-old boy with Sphrintzen-Goldberg syndrome (SGS) was studied to investigate speech, language and voice patterns associated with this syndrome. METHODS: The child's language (expressive and receptive) and speech was characterized with regard to overall intelligibility, articulation (phonetic and phonological errors), voice (flexible videolaryngostroboscopy, quality, pitch and loudness) and resonance (type of disorders). RESULTS: Based on this detailed study the most striking communication characteristics in this child with SGS appear to be a delayed speech and language onset, an expressive and receptive language disorder, a moderately impaired speech intelligbility, relatively good phonetic but poorer phonological abilities, an oral hypotonia, a high-pitched soft voice and a slight hypernasality. CONCLUSIONS: The explanation for this communication disorder is not completely straightforward. It is not clear either to what extent the present case can be considered as typical for SGS. Only more data will allow to determine whether or not SGS is associated with a typical syndrome specific pattern of communication disorders. Not only detailed speech and language analyses of additional cases of SGS are necessary, but also studies that compare the speech and language of individuals with SGS with that of individuals with other genetic syndrome.
Subject(s)
Articulation Disorders/complications , Craniosynostoses/complications , Heart Defects, Congenital/complications , Language Disorders/complications , Mixed Connective Tissue Disease/complications , Speech Intelligibility , Voice Disorders/complications , Voice Quality , Activin Receptors, Type I/genetics , Articulation Disorders/diagnosis , Articulation Disorders/genetics , Child , Cleft Palate/complications , Cleft Palate/diagnosis , Cleft Palate/genetics , Cognition Disorders/complications , Cognition Disorders/diagnosis , Cognition Disorders/genetics , Craniosynostoses/genetics , Hearing Disorders/complications , Hearing Disorders/diagnosis , Hearing Disorders/genetics , Heart Defects, Congenital/genetics , Humans , Language Disorders/diagnosis , Language Disorders/genetics , Male , Mixed Connective Tissue Disease/genetics , Muscle Hypotonia/complications , Muscle Hypotonia/diagnosis , Muscle Hypotonia/genetics , Musculoskeletal Diseases/complications , Musculoskeletal Diseases/diagnosis , Musculoskeletal Diseases/genetics , Protein Serine-Threonine Kinases , Receptor, Transforming Growth Factor-beta Type I , Receptors, Transforming Growth Factor beta/genetics , Severity of Illness Index , Syndrome , Voice Disorders/diagnosis , Voice Disorders/geneticsABSTRACT
The main purpose of this study was to determine the vocal quality characteristics among the 45 monozygotic cotwins (MT). As the performance of the voice is related to several genetically determined anatomical and physiological factors, the authors hypothesized that the vocal characteristics and the overall vocal quality by means of the Dysphonia Severity Index (DSI) will be identical in MT. An additional objective of this study was to determine whether sex and age influence vocal similarities in MT and to compare the voice characteristics of MT with the normative data of unrelated peers. As more environmental factors influence the aging of the voice, age-related differences were expected. No sex-related differences were expected. Subjective and objective assessment techniques determined the vocal quality. No significant differences were obtained, and most comparisons resulted in significant correlation coefficients. For the acoustic parameters jitter and shimmer only, no significant correlation coefficients could be obtained. It is clear that the perceptual voice characteristics, the laryngeal aerodynamic measurements of maximum phonation time (MPT), the vocal performances, and the overall vocal quality by means of the DSI are similar in MT. These vocal characteristics are not influenced either by the subjects' age or sex and are situated within the normative range of unrelated peers. To what extent other aspects (environment, anxiety, tension, etc) might play a role in the acoustical dimensions regarding frequency and amplitude perturbation, which were in the normal range, is a subject of further research.
