1/45. 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.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/45. 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.- - - - - - - - - - ranking = 359.20225534893keywords = sample (Clic here for more details about this article) |
3/45. Repeated superiorly based pharyngeal flap operation for persistent velopharyngeal incompetence.A secondary pharyngeal flap procedure, superimposed, on the primary flap, is described after having successfully improved the speech of the three patients on whom it has been used. The raising of a secondary flap is made possible by the fact that minimal scarring occurs from previous pharyngeal flap surgery and also because of the presence of a muscle layer. The combination of factors leading to further reduction in the size of the velopharyngeal lumen is discussed. This operation offers some measure of hope for the not insignificant number of patients who have been left with poor speech after pharyngeal flap surgery and supports the recent work of Cosman and Falk (2).- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
4/45. Emergence of a vowel system in a young cochlear implant recipient.This report chronicles changes in vowel production by a congenitally deaf child who received a multichannel cochlear implant at 19 months. The emergence of Hannah's vowel system was monitored by transcribing vocalic segments from spontaneous utterances produced during two 30-minute recording sessions before implant surgery and 12 monthly recording sessions after her implant was activated. Vowel types were included in her inventory whenever transcribers independently agreed that a vocalization contained an allophone of a given vowel type. Hannah exhibited three vowel types before implantation. A total of nine different vowel types were observed during her first year of implant experience, and a full range of place and height categories was represented. Acoustic analyses revealed that Hannah's vowel space was near normal in size and that the formant structures of /i/ and /u/ were distinctive from other point vowels. Formant regions for /ae/ and /a/ showed some overlap. Taken together with a previous report of her vocal development (D. J. Ertmer & J. A. Mellon, 2001), Hannah appears to have made substantial progress in speech development during her first year of implant use.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
5/45. Preserved speech variants of the rett syndrome: molecular and clinical analysis.Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called rett syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical rett syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten of them had a MECP2 mutation (55%). The clinical features of these girls have been characterized and two subgroups defined. All of them had slow recovery of verbal and praxic abilities, evident autistic behavior, and normal head circumference. Six were overweight, often obese, had kyphosis, coarse face, and mental age of two-to-three years, and were able to speak in sentences; four had normal weight, mental age not beyond one-to-two years, and spoke in single words and two-word phrases. The course of the disorder was in stages as in classic rett syndrome. hand-washing was present in the first years of life but often subsequently disappeared. Significantly, all mutations found in PSV are either missense or late truncating mutations. In particular, we did not find the four early truncating hot spots: R168X, R255X, R270X, R294X. These results suggest that early truncating mutations lead to a poor prognosis (classic Rett), while late truncating and missense mutations lead either to classic Rett or PSV. We hypothesize that a missense or late truncating mutation is necessary but not sufficient to produce a PSV, based on the presence of one (or more) modifier genes whose product may interact in a epistatic manner with MeCP2 protein.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
6/45. Fiery tongues and mystical motivations: glossolalia in a forensic population is associated with mania and sexual/religious delusions.Comparisons are made between a nonrandom sample of 18 glossolalists and 130 non-glossolalists admitted to a maximum-security forensic hospital. The glossolalic mentally disordered offender exhibited a predominance of diagnoses in the manic spectrum, and was typically psychotic. The delusions, hallucinations, and crimes were predominately of a religious and sexual nature. Glossolalist perpetrators tended to be female. We review the extant research on glossolalia in both normal and clinical samples. and integrate our findings, the first study of glossolalia in a forensic setting.- - - - - - - - - - ranking = 89.800563837233keywords = sample (Clic here for more details about this article) |
7/45. Progressive bulbar palsy: a case report diagnosed by lingual symptoms.The aim of this report is to show a case of Progressive Bulbar Palsy (PBP), diagnosed by oral medicine specialists, from oral symptoms of the disease. We have found no more than two published cases of PBP diagnosed by lingual alterations. We have followed the patient for almost four years, which is remarkable considering that the normal survival period for these patients is up to three years. We would like to emphasize the role of general dentists in the diagnosis of systemic conditions based on an oral examination that should include the oro-facial muscles.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
8/45. Cineradiographic assessment of articulatory mobility in the dysarthrias.This paper describes cineradiographic techniques for the assessment of articulatory mobility in dysarthric subjects. Sample data for the mobility ranges of articulatory points on the tongue, lower lip, and jaw are presented for four normal speakers and four dysarthric speakers. In addition, fleshpoint displacements during the articulatory movements of the dysarthric subjects are used to illustrate abnormalities in the range, rate, and direction of speech movements. Discussion of the point-parameterized cineradiographic data emphasizes possibilities for the clinical evaluation of dysarthric impairments.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
9/45. Language function and dysfunction in corticobasal degeneration.OBJECTIVE:S: The authors assessed language functioning in corticobasal degeneration (CBD), an area that has received little systematic study. aphasia has been reported occasionally, and the authors hypothesized that appropriate assessments would reveal at least mild language impairment, particularly affecting phonologic (sound-based) processing, even in cases without frank aphasia. methods: A series of 10 unselected patients with CBD (one with pathologic confirmation) were administered neuropsychological tests assessing the following aspects of cognitive functioning: verbal fluency, naming, reading, oral spelling, auditory-verbal short-term memory, phoneme blending and segmentation, visuospatial skills, and semantic memory. RESULTS: Phonologic and spelling impairments were prevalent, even in nonaphasic patients. The prevalence of visuospatial, constructional, and frontal impairments, demonstrated in previous research, was also replicated. A minority of patients had deficits in semantic memory, naming, and reading, but the impairments were usually mild. CONCLUSIONS: The authors found phonologic impairment to be a typical feature of CBD. There is substantial overlap between progressive nonfluent aphasia and CBD, and the linguistic impairment can be thought of as a continuum, with mild phonologic impairment at one end and severe aphasia at the other.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
10/45. speech benefits of posterior pharyngeal flap are preserved after surgical flap division for obstructive sleep apnea: experience with division of 12 flaps.Attachment of a posterior pharyngeal flap is commonly performed for the surgical management of velopharyngeal insufficiency. Obstructive sleep apnea has been found to occur in as many as 38% of patients undergoing posterior pharyngeal flap attachment. Often, this is temporary in the early postoperative period. When it occurs later after surgery, however, it can require active treatment. Many patients improve with the use of nighttime nasal C-PAP. Those patients who do not improve sufficiently with nasal C-PAP may require surgical flap division. We report surgical flap division in 12 such patients. All patients had preoperative and postoperative perceptual speech evaluations, and most had preoperative and postoperative pressure flow studies. In 11 of the 12 patients who underwent surgical flap division, velopharyngeal function did not deteriorate. We hypothesized that the persistence of the speech improvement in those patients is either secondary to the bulk of tissue from the flap, which remains in the posterior pharyngeal wall and provides a pad to assist with velopharyngeal closure, or is secondary to the speech mechanisms that the patients learned with the flap in place and were able to continue even after flap division.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
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