Cases reported "Speech Disorders"

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1/515. teaching partner-focused questions to individuals who use augmentative and alternative communication to enhance their communicative competence.

    A single-subject, multiple-probe experimental design was used to investigate the effect of instruction on the acquisition, generalization, and long-term maintenance of partner-focused questions (i.e., questions about communication partners and their experiences) by individuals who use augmentative and alternative communication (AAC). Six participants who had severe speech impairments and used AAC participated in the study; they ranged in age from 10 to 44 years, had a variety of disabilities, and used a range of AAC systems. Instruction used a least-to-most prompting hierarchy in real-world interactions and during simulations. All of the participants successfully learned to ask partner-focused questions spontaneously in social interactions; they required an average of approximately 6 hours of instruction (range: 3-11 hours). The participants generalized the use of partner-focused questions to new situations in the natural environment and maintained use of partner-focused questions at least 2 months postinstruction; one participant required some "booster" instructional sessions 4 weeks postinstruction to maintain her long-term use of partner-focused questions. The participants all reported high levels of satisfaction with the outcomes of the instructional program, as did their facilitators. Members of the general public, blind to the goals of the study, judged the majority of the participants to be more competent communicators after instruction. ( info)

2/515. Acquired and isolated asymmetrical palatal palsy.

    Benign acquired and isolated asymmetrical palatal palsy is a rare condition in childhood. We report on three cases. Typical features include: sudden onset, abnormality of the palatal components of speech (rhinolalia), nasal escape of fluids from the ipsilateral nostril. It is supposed to be caused by viral infection, but attempts at viral isolation were unsuccessful. Complete spontaneous recovery is usual, taking a few weeks. Our paper seems to be the first report of magnetic resonance imaging of the brain in this condition. It did not disclose any abnormalities in the 2 cases in which it was performed. ( info)

3/515. Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.

    We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified. ( info)

4/515. Lessons to be learned: a case study approach. Primary hyperparathyroidism simulating an acute severe polyneuritis.

    The case is presented of a 65 year old lady with recent onset of neuromuscular manifestations, comprising paraparesis, areflexia and unsteady gait, along with episodes of slurring of speech and diplopia, later confirmed to be due to severe hypercalcaemia--which itself was caused by primary hyperparathyroidism. Restoration of normocalcaemia, by means of rehydration and bisphosphonate therapy, resulted in clinical improvement--whilst subsequent parathyroidectomy was followed by complete resolution of all symptoms. In order to make prompt differentiation between the neurological sequelae of hyperparathyroidism and a primary neurological disorder, a high index of suspicion is required. An urgent serum calcium assay, as part of a bone profile, is mandatory in patients who present with neurological symptoms--especially the elderly, amongst whom hyperparathyroidism is especially common. ( info)

5/515. Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease.

    We report a pair of monozygotic Huntington's disease (HD) twins who, although sharing identical CAG repeat lengths, not only present with marked differences in clinical symptoms but also behavioral abilities as measured by our experimental procedures. Both HD twins and two healthy control subjects were tested twice over 2 years. Patient A was generally more impaired at a motor level, whereas Patient B showed greater attentional impairment; Patient B, however, showed more progressive deterioration. The control subjects' performance remained consistent over the 2-year interval. Patient A clinically had the more hyperkinetic hypotonic variant of the disease, whereas Patient B, who was the more impaired, presented with a more hypokinetic hypertonic (rigid) variant. The influences of epigenetic pre- and postnatal environmental factors should not be ignored. ( info)

6/515. A refinement of the concept "reticence".

    This report has 1. Made a distinction between speech disorders involving defects and those that are primarily reticence, but in any case identified speech disorders as negotiated states as opposed to fixed disease states. 2. Argued that there is a clear analytical separation between speech disorders and speech behaviors which are indicative of neurotic disorders. 3. Attempted to remove anxiety as a component of the communication process by according it its rightful place, which is central in human personality. Furthermore, we have attempted to dispel the notion that anxiety is evil and the perennial (and sole) cause of speech disorders. 4. Identified a specialist known as the rhetoritherapist (a specially trained speech teacher) as the particular king of professional qualified to deal with speech disorders (in conjuction with speech pathologists and/or psychotherapists where necessary). We have accorded to the rhetoritherapist the province of instruction and training in all aspects of invention, delivery, and reception of rhetorical speech without reference to its moral intent. 5. Identified "reticence" as the most useful of the various imprecise terms used to refer to people with speech problems, because it is devoid of connotations that go beyond the speech process. Further refinement of specific categories of speech disorders is necessary to order to expand the repertoire of available treatment strategies. Such refinement will probably include reference to the various subprocesses of human speech identified earlier in this paper as they are related to the rhetorical situation. The rhetoritherapist thus emerges as the trouble-shooter, but not the "psychotherapist," of speech pedagogy. ( info)

7/515. essential tremor in Papua, New Guinea.

    The clinical features of 175 cases of essential tremor are related. This disorder is prevalent among a population of the Eastern Highlands of papua new guinea. It affects predominantly women in middle and old age; only 27 per cent of the cases were males. The disorder is slowly progressive and significant disability appears in elderly women when the trunk muscles are involved. Epidemiological studies have shown that the presence of tremor can be correlated with linguistic distinctions between high and low prevalence populations. Although only 30 patients reported a first degree relative with tremor, the syndrome would seem to stem from a genetic predisposition. In a number of patients essential tremor appeared to be associated with Parkinson's disease. ( info)

8/515. Language sample analysis in the 21st century.

    time requirements inherent in transcription and analysis of spontaneous language samples represent a significant barrier to the regular use of language sample analysis in clinical settings. Taking advantage of the options provided by new large, fast, and affordable personal microcomputers, two language analysis programs, the Systematic Analysis of Language Transcripts and The child language Data Exchange System have been developed to provide automated analysis of a wide range of language indices, as well as tools designed to reduce and simplify the time-intensive process of transcribing and analyzing children's language samples from both typical and clinical populations. In this article we provide a historical context for the development of these language analysis programs and a brief introduction to the transcription editors and language sample databases for both systems. In addition, a case study highlighting the interactive use of both analysis systems is provided. ( info)

9/515. Use of technology in phonological assessment: evaluation of early meaningful speech and prelinguistic vocalizations.

    Technologies that assist in the assessment of phonological abilities in early meaningful speech and prelinguistic vocalizations are discussed. Computerized assessment of phonological abilities (CAP) software offers significant time savings for basic analyses and makes possible the completion of more detailed analyses. The programs discussed in this article allow flexibility in determining not only the most appropriate analyses for an individual client, but also the design of the optimal symbol system for representing the client's productions. Case studies are included to illustrate the clinical benefits of CAP technology. ( info)

10/515. CleftNet (scotland): a network for the treatment of cleft palate speech using EPG.

    Electropalatography (EPG) has proven its effectiveness in changing abnormal articulatory placement in cleft palate speech but clinicians often do not have ready access to such equipment. In order to improve access to EPG therapy, a network has been established which electronically links cleft palate centres throughout scotland with EPG specialists based at Queen Margaret College (QMC), Edinburgh. The network was set up through a collaborative project entitled 'CleftNet scotland', funded by the Scottish Office Department of health. In this paper, the rationale and overarching aims of CleftNet scotland are described and the efficacy of this form of EPG therapy illustrated by descriptions of two cases. ( info)
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