Biomedical subjects

J Van Borsel

Publications and source records attributed to J Van Borsel.

At least 19 recordsLinked to original sources

PubMed2001

Aerodynamic and acoustic characteristics of voice in Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a multisystem disorder caused by DNA abnormalities involving chromosome 15. Major characteristics are infant hypotonia, hypogonadism, mental retardation, a short stature, atypical facial appearance, and the onset of obesity due to insatiable hunger in early childhood. Also, speech and language abnormalities have been reported including voice disorders. These have seldom been studied in detail, however. This paper reports the results of an acoustic and aerodynamic investigation of the voice in 22 individuals with PWS. Two age groups were distinguished, a group of children [chronological age (CA) 6 years, 7 months through 11 years, 7 months; total intelligence quotient (TIQ) 40-88] and a group of adolescents and adults (CA 17 years, 1 month through 29 years, 5 months; TIQ 41-94). Both aerodynamic and acoustic parameters were obtained and compared with normative data from the Belgian Study Group on Voice Disorders. It was found that voice difficulties do commonly occur in individuals with PWS including impairment of frequency levels, voice quality, and poor aerodynamic capabilities.

Adolescent↗

PubMed2001

Physical appearance and voice in male-to-female transsexuals.

It has been suggested that sex judgments of male-to-female transsexuals based on the voice may be influenced by the physical appearance of the clients. To explore this hypothesis, a listener experiment was designed in which a panel of 22 laypersons and 22 students in speech-language pathology rated the "femaleness" of fourteen male-to-female transsexuals from video-recorded speech samples in three modes of presentation: auditory-only presentation, visual-only presentation, and audiovisual presentation. Results indicate that appearance and voice are indeed interacting factors. Ratings from the auditory-only presentation were significantly lower than ratings from the audiovisual presentation and ratings from the visual-only presentation were significantly higher than those from the audiovisual presentation. It follows that the success of voice training in male-to-female transsexuals is not solely dependent on vocal characteristics and that speech pathologists should consider incorporating physical appearance as a treatment and outcome variable in the voice training of male-to-female transsexuals.

Adult↗

PubMed2001

Public awareness of stuttering in Shanghai, China.

This study reports the results of an investigation of knowledge and public awareness of stuttering among laypersons in Shanghai, China. A total number of 1968 respondents answered a questionnaire including questions about prevalence, onset, gender distribution and occurrence in different cultures, cause, treatment, intelligence and heredity of stuttering. Stuttering appears to be a disorder that most people in the Shanghai area are familiar with, and for several aspects a considerable number of respondents held views that are in line with current knowledge about stuttering. For some aspects though knowledge is limited, indicating a need for disseminating scientific information on stuttering. The results of the present study are compared with a similar Belgium study.

Adult↗

PubMed1999

Public awareness of stuttering.

The results are reported of a questionnaire study into the awareness of stuttering of lay persons in part of Belgium. 1,362 subjects were interviewed. Questions pertained to various aspects of stuttering including prevalence, onset, gender distribution and occurrence in different cultures, cause, treatment, intelligence and hereditariness. Although most respondents were to some extent familiar with stuttering, their overall knowledge of the disorder appeared generally limited.

Adult↗

PubMed1997

Hyperacusis in Williams syndrome: a sample survey study.

Williams syndrome is a true multiple congenital anomalies mental retardation syndrome affecting the vascular, connective tissue and the central nervous system. Affected individuals have a distinctive neuropsychological profile characterized by extremely poor visuospatial skills but relatively preserved verbal skills. A very striking characteristic is the hyperacusis or over-sensitivity to particular sounds. Klein et al. (4) found high rates (95%) of auditory over-sensitivity in a sample of Williams patients. The cause and mechanisms of auditory-over-sensitivity in Williams syndrome remain unclear. Some association has been suggested between hyperacusis and the occurrence of otitis media and also between hyperacusis and hyperactivity. The present study reports the results of an investigation into the occurrence of hyperacusis, otitis media and hyperactivity in a large group (N = 82) of Dutch speaking subjects with Williams syndrome from Belgium and The Netherlands. Prevalence and characteristics of hyperacusis and co-occurrence with otitis media and hyperactivity will be discussed and some management strategies are offered.

Adolescent↗

PubMed1997

Hypernasality as a strategy in speech sound acquisition: a case report.

Hypernasality is a common problem in children that may have various causes, organic as well as functional ones. This paper reports a case of hypernasality in a 5-year-old girl. The speech pattern she displayed was unusual in that the hypernasality apparently functioned as a strategy in speech sound acquisition.

Child, Preschool↗

PubMed1996

Articulation in Down's syndrome adolescents and adults.

Speech samples of 20 adolescents and adults with Down's syndrome were analysed and compared with speech samples from 20 normal toddlers. Consonant, vowel and diphthong productions were studied. Error rate, sounds in error, nature of the errors and phonetic characteristics of the errors of both groups were compared. It was found that the similarities between productions of persons with Down's syndrome and the utterances of normal children by far outnumbered the differences. The results of this study strongly support the contention of Lenneberg (1967) that the disordered articulation in subjects with Down's syndrome reflect a delay in speech development.

Adolescent↗

PubMed1988

An analysis of the speech of five Down's syndrome adolescents.

his paper presents an analysis of the speech of five Dutch-speaking adolescent girls with Down's syndrome. The analysis includes a phonetic analysis, a substitution analysis, and a phonological process analysis. The results indicate that the speech errors of Down's syndrome adolescents are for the greater part identical to the error patterns observed in young normal children, supporting the view that the misarticulations in mongoloid subjects are mainly the result of a delay in speech development.

Adolescent↗

PubMedDate not supplied

Dysfluency and phonic tics in Tourette syndrome: a case report.

Tourette syndrome, a condition first recognized in 1825, is characterized by the presence of multiple motor tics and one or more phonic tics. Individuals with Tourette syndrome may also demonstrate fluency failures in their speech. This study investigated the disfluencies and phonic tics in an 18-year-old affected male before and after a three week period of speech therapy. It was found that the speech pattern displayed by this subject did not completely conform to the classic pattern of stuttering but did bear more resemblance to cluttering. A limited number of therapy sessions resulted in a significant improvement of speech.

Adolescent↗

PubMedDate not supplied

Speech patterns in Kabuki make-up syndrome: a case report.

The case of a girl aged 3 years and 8 months with Kabuki make-up syndrome is reported. At presentation, she had normal cognitive functioning, and she also had a history of otitis media, a submucous cleft palate, and some hypotonia. Language testing showed normal receptive skills and good expressive vocabulary but poor morphosyntactic abilities. Speech analysis showed that she was capable of producing most of the sounds of her native language but demonstrated high variability in production of the sounds. In addition, she inconsistently simplified words by application of several phonologic processes. Possible explanations for the communication problems demonstrated are discussed.

Abnormalities, Multiple↗

PubMedDate not supplied

Neurogenic stuttering versus developmental stuttering: an observer judgement study.

It has been claimed by some but rejected by others that neurogenic stuttering has unique features that distinguish this type of dysfluency from developmental stuttering. An experiment is reported in which a panel of professionals was presented at random speech samples from four developmental and four neurogenic stutterers and was asked to classify them accordingly without any patient knowledge. Results support the view that based on the patient's verbal output only it may sometimes be difficult to distinguish between neurogenic and developmental stuttering. Educational outcomes: As a result of this activity, the reader will be able (1) to define acquired stuttering and to list different types of acquired stuttering and (2) to discuss the resemblance between neurogenic stuttering and developmental stuttering.

Female↗

PubMedDate not supplied

Communication problems in Turner syndrome: a sample survey.

Turner syndrome is a condition first recognized in 1938 with an incidence estimated at 1/2500 female births. It is known to result from a missing X chromosome and has as its main features a short stature, ovarian dysgenesis, neck webbing, congenital peripheral lymphedema, coarctation of the aorta, cubitus valgus, dysplastic nails, and pigmented nevi. In addition, psychosocial difficulties including communication disorders may occur. While the physical characteristics of Turner syndrome have been well documented, information on the communication problems in Turner syndrome is scarce. This study reports the results of a sample survey in 128 girls with Turner syndrome ranging in age from 2.4 to 58.8 years. Results are presented on the occurrence and nature of speech and language problems (voice disorders, articulation problems, stuttering, and delayed language development), on the presence of learning disabilities, and on educational history.

Adolescent↗

PubMedDate not supplied

Voice problems in female-to-male transsexuals.

Voice therapy with the aim of raising a client's fundamental frequency is a common practice in the reassignment of male-to-female transsexuals. In female-to-male transsexuals on the other hand voice therapy is usually not considered since the administration of androgens is assumed automatically to change the voice in the direction of the desired sex. The present study examined whether the voice change in female-to-male transsexuals is indeed as straightforward as it is assumed. Results from a sample survey involving 16 female-to-male transsexuals and longitudinal data from two clients suggest that the voice change in female-to-male transsexuals is not always totally unproblematic. A voice assessment and some counselling before the hormone therapy are recommended.

Adult↗

PubMedDate not supplied

Macroglossia and speech in Beckwith-Wiedemann syndrome: a sample survey study.

In a sample survey study (questionnaires filled out by parents), all 40 patients with Beckwith-Wiedemann Syndrome (BWS) presented with macroglossia. Articulation problems were reported in 29 of them, which persisted in some following corrective tongue surgery. The impression emerges that the value of surgical treatment needs prospective assessment, that the parents are insufficiently informed, and that the adequacy of direct articulation therapy in BWS needs to be evaluated.

Adolescent↗

PubMedDate not supplied

Progressive dysarthria. Case reports and a review of the literature.

Two patients presenting with progressive dysarthria as the single initial manifestation of a neurodegenerative condition are described. The nature of the dysarthria as well as the additional symptoms that developed in the course of the disorder are very different in these two cases. Nevertheless, neuroimaging findings are strikingly similar and suggest bilateral involvement of posterior inferior frontal lobe structures, mainly in the dominant cerebral hemisphere. The clinical syndrome of these patients can therefore be considered an example of frontotemporal degeneration presenting without dementia or compartmental alteration, at least in the early stages. This broadens the clinical spectrum of frontotemporal degeneration and demonstrates the need for a syndromal subclassification of this nosological entity.

Disease Progression↗

PubMedDate not supplied

Speech patterns in children with velo-cardio-facial syndrome. Two case studies.

The purpose of this study was to document the articulation patterns in children with velo-cardio-facial syndrome. The subjects were 2 children with this syndrome, aged 6 years 6 months and 3 years 11 months. Phonetically transcribed speech samples collected by means of a picture naming test formed the basis for this study. The speech samples were subjected to two types of analyses: independent analyses describing the children's sound productions regardless of their relation to the adult targets and relational analyses comparing the children's productions with the adult standard form. It was found that the articulatory problems in velo-cardio-facial syndrome are not simply due to a delay in speech sound acquisition. Articulation errors found in this syndrome are uncharacteristic of normal speech development. Whether errors are syndrome-specific awaits further investigation.

Articulation Disorders↗

PubMedDate not supplied

Effect of cleft type on overall speech intelligibility and resonance.

The main purpose of this study was to measure and compare the effect of an unilateral cleft lip and palate (UCLP) and a bilateral cleft lip and palate (BCLP) on overall speech intelligibility, nasalance and nasality. An additional objective was to compare the nasalance and nasality patterns of cleft palate children with the available normative data for normal children. The subjects were 37 children with an UCLP (19/37) or a BCLP (18/37) with normal cognitive and motor functions and normal hearing levels. All subjects had a non-syndromic cleft, followed the same surgical protocol and did not undergo secondary pharyngeal surgery. To measure and compare the effect of cleft type, objective and subjective assessment techniques were used. For the objective assessment of nasal resonance the nasometer and the mirror-fogging test were used. Nasalance scores were obtained, while patients produced sounds, read three standard passages or repeated sentences focusing on specific consonants. A perceptual evaluation of speech, the Gutzmann (1913) test and the tests of Bzoch (1989) were used as subjective assessment techniques. The perceptual assessment of the overall speech intelligibility was based on the spontaneous speech and reading or repeating of the nasometric sentences. These samples were judged by three speech pathologists using a 4-category nominal scale. A subjective test (Morley, 1945) was used to evaluate the velopharyngeal mechanism. The findings of the present study show no statistically significant differences for nasalance values, nasality and overall speech intelligibility between the UCLP and BCLP children. Significant differences were found between the data of the normal group and the cleft palate children. These differences included nasalance values as well as nasality data and overall speech intelligibility.

Adolescent↗

PubMedDate not supplied

Disfluency in Tourette syndrome: observational study in three cases.

It is often stated that stuttering is a common speech disorder in individuals with Tourette syndrome (TS). It has also been suggested, however, that the fluency failures observed in people with TS do not completely conform to the classic pattern of stuttering. The present paper describes the results of an analysis of the speech patterns of three individuals with TS. A picture emerged that bears some resemblance to stuttering, cluttering, and palilalia but that is also different from each of these disfluency types.

Child↗