Immediate and sustained changes in tongue movement with an experimental palatal "fistula": a case study.

OBJECTIVE: To determine the immediate and longer-term effect(s) on tongue movement following the placement of an experimental opening through a palatal obturator (replicate of subject's prosthesis) worn by an adult male with an unrepaired cleft of the hard and soft palate. METHODS: Tongue movements associated with an anterior experimental opening of 20 mm(2) were examined under three conditions: a control condition in which the subject wore the experimental obturator completely occluded, a condition immediately after drilling the experimental openings through the obturator, and a condition after 5 days in which the subject wore the experimental obturator with the experimental opening. An Electromagnetic Articulograph was used for obtaining tongue movements during speech. RESULTS: The findings partly revealed that the immediate introduction of a perturbation to the speech system (experimental fistula) had a temporary effect on tongue movement. After sustained perturbation (for 5 days), the system normalized (going back toward control condition's behavior). Perceptual data were consistent with kinematic tongue movement direction in most of the cases. CONCLUSIONS: Although the immediate response can be interpreted as indicative of the subject's attempts to move the tongue toward the opening to compensate for air loss, the findings following a sustained perturbation indicate that with time, other physiological adjustments (such as respiratory adjustments, for example) may help reestablish the requirements of a pressure-regulating system.

Intraoral air pressure discrimination under conditions of experimental velopharyngeal insufficiency.

OBJECTIVE: This study assessed a single subject's ability to detect the difference limen (DLs) for his self-generated intraoral air pressure while his oral and nasal cavities were experimentally coupled. METHOD: The subject, a 46-year-old man, uses a speech bulb prosthesis to cover an unrepaired cleft of his hard and soft palates. The subject's oral and nasal cavities were experimentally coupled by drilling different size holes through the speech-bulb component of the prosthesis to approximate conditions of velopharyngeal insufficiency. There were four hole-size conditions (10, 15, 20, and 30 mm(2)), a no-prosthesis condition, and pre- and postbaseline conditions with the prosthesis intact. The subject blew into a tube connected to a pressure transducer and was presented with a series of paired pressure loads. The first pressure load of each pair was the referent (1, 3, or 5 cm H(2)O), and the second was a preselected comparator load of a different amount. The subject blew into the tube with sufficient force to center the voltage meter's needle at the zero mark. The subject then reported whether the second pressure load required more, less, or equal breath pressure, compared with the referent pressure load of that pair. RESULTS: Size of the hole coupling the oral/nasal cavities did not significantly affect the subject's difference limen. CONCLUSION: Experimental coupling of the oral/nasal cavities did not affect this subject's ability to detect differences in his self-generated intraoral air pressure.

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.

To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader-Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11-q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects.

Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinics.

BACKGROUND: Oralfacial clefting (OFC) disorders require expedient evaluation and treatment to obtain optimal outcome. In Florida, there is a statewide program targeted to the care of infants with OFC. We therefore sought to determine statewide referral and treatment patterns of children born with OFC identified through the Florida Birth Defects Registry. METHODS: Using data for 1996 and 1997 and ICD-9 CM codes 749.00 - 749.25, we identified 539 OFC cases. All cases were matched with the evaluation and treatment records of the statewide Children's Medical Services' (CMS) craniofacial centers (CFC) and cleft palate clinics (CPC). The likelihood of CMS contact was examined with respect to demographic and other descriptive data characterizing the OFC cases. RESULTS: 42% (227/539) of OFC cases were evaluated at or known to the CFC or CPC. Children with cleft lip and palate were more likely to have had contact than were those with cleft lip or cleft palate alone. The CFC and CPC programs were most likely to provide evaluation between age 2 months and 3 years. Of 12 counties with occurrences of more than 15 OFC cases, 2 had significantly lower contact rates, suggesting possible problems in accessibility or reporting of services. CONCLUSIONS: Statewide Birth Defect Registry data can be used in collaboration with statewide treatment programs to gain insight into referral patterns and provision of services. Factors influencing access to services and quality of care, though not addressed by this study, could be prospectively incorporated into such a project.