Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.

Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.

The effect of periodontal bone loss on bite force discrimination.

This study compared bite force discrimination between 14 treated periodontal patients with significant bone resorption and 14 control subjects who were free of periodontal disease. Bite force was measured using a strain gauge scale which permitted subjects to visually monitor when their bite force equaled a preset resistance. A bite force of 500 gm was selected as the standard. Subjects were presented with a series of paired resistance settings, one at a time, the first of each pair being the standard and the second being the comparator setting of some predetermined different amount. This procedure was continued until the subject's difference limen (DL) value, the threshold of discrimination between two bite forces, was established. The periodontal patients required an average of 334 additional grams of resistance over the standard before they could detect a difference, whereas the control subjects required only 201 additional grams. These group means were significantly different (P less than 0.01). The results of this study suggest that the periodontal ligament provides sensory feedback relative to bite force discrimination.

Assessment of lingual function when ankyloglossia (tongue-tie) is suspected.

Dental specialists are frequently confronted with the task of attempting to determine whether a cause and effect relationship exists between a short or restricting lingual frenum (ankyloglossia or tongue-tie) and a specific oral motor dysfunction. Because there is no standardized definition of what constitutes a condition of tongue-tie, the dental practitioner is often unsure as to the appropriate course of action with a patient with suspected ankyloglossia. This paper describes clinical measures that permit quantifying several anatomic and functional aspects of the tongue. Such baseline analysis provides a more definitive appraisal of lingual function as well as a more objective basis for making pre- and posttreatment comparisons.

The effect of experimental anesthetization of the temporomandibular joint superior cavity on bite force discrimination.

The purpose of this study was to determine whether bilateral experimental sensory impairment of the temporomandibular joints (TMJs), as induced by injecting 1.5 ml of two percent mepivacaine into the superior cavity of the TMJs would alter the subject's ability to discriminate among differences in their bite force. Assessment of bite force was measured isometrically, using the strain gauge scale, and isotonically, using the mechanical swing beam scale. Resistance forces of 500 and 1000 gms were selected as standards. For each task, subjects were given a series of paired resistance settings, one at a time, the first of each pair being the standard resistance and the second being a comparator resistance of some greater amount. Subjects reported whether biting against the comparator resistance was equal to, greater than, or less than the standard resistance. This procedure of paired comparisons was continued until the subject's threshold of discrimination (difference limen value) between two biting forces was established. The results revealed that the subject's ability to discriminate differences in their bite force, either isometrically or isotonically, was not significantly (p greater than 0.05) affected following anesthetization of the superior cavity of the TMJs. These findings suggest that the sensory receptors within the TMJ capsules are not significantly involved in the detection of forces that play a role in monitoring biting force.

Systemic lupus erythematosus, rheumatoid arthritis and HLA phenotypes in Jamaicans.

The HLA phenotypes were investigated in 30 Jamaican patients with Systemic Lupus Erythematosus (SLE), 30 with Rheumatoid Arthritis (RA) and 40 healthy controls. HLA phenotypes were determined by the microcytoxicity technique, using commercially prepared typing trays. In this study, the HLA phenotypic associations with SLE (HLA-B14, RR 4.3: HLA-A28, RR 4.3) were not statistically significant. However, a statistically significant lack of HLA-A9 (p < 0.01; CP < 0.1) was observed in SLE patients compared to healthy controls. In RA patients, a statistically significant association was noted with HLA-A2 (RR 5.1; CP < 0.01). No HLA class II associations were noted with SLE. Class II associations with RA did not achieve statistical significance but included those previously established in other populations. The preliminary data obtained from this study indicate differences in the patterns of HLA phenotypes in Jamaican patients with SLE and RA compared to those observed in such patients elsewhere. Further studies involving larger groups of patients and typing at the serological, cellular and molecular levels are clearly warranted.

Comparison of sign versus verbal symbol training in retarded adults.

Sign language as an alternative or as an augmentive system to verbal language training in the mentally retarded is in widespread use. This study began an exploration of the relationship between sign and verbal learning in 10 institutionalized severely mentally retarded adults. Three experimental groups were taught color labels. Three persons received sign training only, 4 more received verbal training only, and last 3 received combined verbal and sign training. Sign labels tended to be learned more efficiently than verbal labels by this small group. Combined sign and verbal training improved verbal learning whereas sign learning was not improved through the combined approach. Replication and extension of this preliminary work with a larger and more representative sample is needed.

Intra-oral shape recognition by 138 mentally retarded subjects.

Among Ss with normal intelligence, oral shape-recognition tests have shown a relationship between articulatory ability and oral sensory integrity. This investigation explored oral sensory impairment as a possible contributory cause of the articulatory difficulties exhibited by the mentally retarded. The Florida Oral-form Recognition Measure (FORM), a task requiring the intra-oral identification of 10 geometric shapes, was administered to 138 mentally retarded Ss. Twenty Ss were retested to establish reliability. Ss were placed in groups according to etiological categories (AAMD classification) and were assigned speech ratings by a speech pathologist. Of the total sample, 86% had varying degrees of defective speech or language. Mean FORM score was 3.5, and preliminary analysis yielded significant correlations between FORM score and IQ and between speech and language rating. Further multivariate analysis with IQ held as a co-variant indicated no significant relationship between FORM score and communicative ability. This suggests caution in inferring that intra-oral shape-recognition scores reflect degree of oral sensory integrity. Perhaps a battery of oral perceptual tasks might more validly assess oral sensation-perception and aid in clarifying its relationship to speech.

Effect of mouth opening on bite-force discrimination.

The purpose of this study was to determine whether different extents of mouth opening affect normal subjects' (N = 24; 12 women, 12 men) ability to discriminate differences in their interincisor bite force. Three mouth openings were selected including 50, 70, and 90 percent of maximum opening for each subject. Bite force was measured using a specially designed strain gauge scale which permitted subjects to monitor visually when their biting force equalled a preset resistance. Resistance forces of 500 and 1000 gm. were selected as standards. The procedure involved the use of a modified method of constant stimuli in which each subject was presented with a series of paired resistance settings, one at a time--the first resistance setting being the standard and the second resistance was the comparator. This paired-comparisons procedure was continued until the subjects' difference limen (DL) value (the threshold of discrimination between two forces) could be established. An analysis of variance yielded no significant differences in subjects' ability to discriminate bite force as a function of mouth opening.

Human pinch-force discrimination.

Pinch-sustaining tasks such as holding a pencil, fork, or key require the exertion of different levels of force. There is little information concerning normal subjects' ability to discriminate differences in their pinching force, so the purpose of this study was to evaluate the ability of 24 normal young women to discriminate differences in their self-generated isometric tip and lateral pinching force. Resistance forces of 10, 25, 50, and 75% of known normal maximum pinching force were selected as standards. Subjects were presented a series of paired resistance settings of which the first resistance in each pair was the standard and the second resistance a comparator of some greater amount. This procedure of paired comparisons was continued until subjects' threshold of discrimination between two pinching forces was established. The results indicated that subjects' pinch-force discrimination at the standard of 50% of reported maximum pinching force was significantly better for the tip condition than for the lateral condition. This study has described an instrumentation and the methodology for assessing individuals' ability to discriminate differences in their pinching force at submaximal levels.

Comparing the unaided visual exam to lateral cinefluorography in estimating several parameters of velopharyngeal function.

Retrospectively, the medical records of patients with known velopharyngeal insufficiency (VPI) were reviewed for comments based on an unaided visual examination regarding their velopharyngeal function. These comments were compared to objective findings obtained from the cinefluorographic evaluations performed on each of the patients. A total of 68 recorded comments (47 patients) were identified and fell into four broad categories: (1) velar length, (2) depth of the nasopharynx, (3) velopharyngeal closure, and (4) velar mobility. The results revealed an agreement level of 60% between judgements made from visual examinations and cinefluorographic evaluations. This relatively poor agreement suggests that management decisions concerning VPI must include some method of objectively assessing velopharyngeal form and function during connected speech.