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PubMed2003

Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.

The Velo-Cardio-Facial Syndrome (VCFS), caused by a submicroscopic deletion in the long arm of chromosome 22, has a broad clinical spectrum of ENT manifestations including for instance velopharyngeal dysfunction, hearing problems and laryngotracheal anomalies. In the current report we present guidelines for diagnosis, treatment and follow-up of the ENT manifestations in patients with a deletion 22q11, based on our experience and the literature.

Child↗
PubMed1999

Speech outcome in children with cleft palate: aerophonoscope assessment of nasal emission.

The quality of speech is an important outcome measure of the success of primary surgery for clefts of the palate. A competent velopharyngeal mechanism is essential for normal speech, and disorders of resonance and nasal airflow are significant manifestations of velopharyngeal dysfunction in cleft palate subjects. The aim of this study was to determine the level of nasal emission during speech in patients with functionally repaired clefts of the palate and compare this with age and sex-matched controls. Forty-four children between the ages of 3 and 9 years were assessed for nasal emission using an Aerophonoscope. All these patients had primary functional surgery carried out at this unit by the same surgeon, and fell into three groups; complete bilateral, complete unilateral and soft palate clefts. Nasal breathing, blowing and groups of vowels and voiceless pressure consonants were assessed. There was no nasal emission in close to, or over, 90% of the patients for these parameters. The results indicate that a highly significant percentage of children with functionally repaired clefts of the palate have normal velopharyngeal function and speech, without inappropriate nasal emission. The Aerophonoscope provides an accurate, reliable and user-friendly diagnostic aid, and indeed therapeutic adjunct, to speech management in cleft palate patients.

Child↗
PubMed2005

A local diagnostic reference level for velopharyngeal investigations.

The purpose of this study was to derive an initial local diagnostic reference level for velopharyngeal investigations carried out as standard radiological practice in the Medical Imaging Department, Queen Victoria Hospital, East Grinstead. This is a specialist video-fluoroscopic radiological technique used to evaluate velopharyngeal dysfunction, especially for paediatric patients. A retrospective analysis over a period of 7 months involving 50 examinations yielded dose-area product values ranging from 0.04 Gy cm(2) (minimum) to 0.37 Gy cm(2) (maximum) with a mean value of 0.11 Gy cm(2) and 3rd quartile value of 0.12 Gy cm(2). The maximum effective dose was estimated as 0.016 mGy. An initial local diagnostic reference level of 0.12 Gy cm(2) has been levied.

Adolescent↗
PubMed1997

The evaluation of velopharyngeal function using flexible nasendoscopy.

Nasendoscopy is an essential tool in assessing the dynamic function and structure of the velopharyngeal sphincter during speech and swallowing. Flexible fibre-optic nasendoscopy has been used by the cleft palate team at Withington Hospital, Manchester since 1989. Seventy-six patients were referred between 1989 and 1994 for evaluation of velopharyngeal function during speech. Flexible nasendoscopic evaluation was attempted in 50 patients, and successfully carried out in 43 patients. The age range was four years to 77 years (mean 21 years). The patients were divided into two groups: Group 1 consisting of patients with cleft palate and Group 2 comprised of patients with non-overt cleft palate-related velopharyngeal dysfunction of various aetiologies; such as, submucous cleft, post-tonsillectomy, post-adenoidectomy, neurological and post-traumatic. Based on the findings on nasendoscopy, videofluoroscopy and clinical speech/voice analysis the following treatment options were recommended: 17 (40 per cent) for pharyngoplasty, five (11 per cent) for revision pharyngoplasty, 15 (35 per cent) for speech therapy, four for an obturator and one for tonsillectomy. Two previously undetected submucous clefts were diagnosed.

Adolescent↗
PubMedDate not supplied

Blinded speech evaluation following pharyngeal flap surgery by speech pathologists and lay people in children with cleft palate.

METHODS: In order to assess intermediate-term speech outcome after pharyngeal flap surgery for velopharyngeal dysfunction in children with cleft palate between 1980 and 1998, their pre- and postoperative speech performance was analyzed in a blinded fashion by speech pathologists and adult lay people. Speech was evaluated on the basis of tape recordings with regard to resonance, intelligibility, articulation, voice and secondary speech disorders. RESULTS: Twenty-three patients could be evaluated. Both lay assessors and speech pathologists noted a significant improvement in speech performance after pharyngeal flap surgery. The percentage of children who improved was 83% (19/23, 95% confidence interval: 0.68-0.98, p = 0.002) when rated by lay people, and 87% (20/23, CI 0.73-1.01, p < 0.0001) when rated by professionals. Rated on a 5-point scale, the mean improvement per speech characteristic was 0.52 +/- 0.32 scale points when judged by lay people, and 0.75 +/- 0.8 points when judged by experts. Experts considered none of the children to have normal speech after surgery. Agreement with regard to outcome between lay people and speech pathologists occurred in 87% of the patients. CONCLUSION: The cranially based pharyngeal flap can improve speech performance in cleft palate children with chronic velopharyngeal insufficiency. However, it cannot be expected that this type of surgery will result in normal speech.

Child↗
PubMed1997

Robin sequence: obstructive sleep apnea following pharyngeal flap.

OBJECTIVE: We reviewed 24 children with Robin sequence who underwent cleft palate repair. METHOD: All patients were 5 years of age or older at the time of review, allowing for accurate assessment of speech in relation to velopharyngeal function. All infants had palatal closure between 9 and 14 months of age, either V-Y repair (n = 16) or von Langenbeck repair (n = 8). RESULTS: Only 1 of 16 children who had V-Y repair had borderline velopharyngeal dysfunction (VPD). For reasons that are unclear, in the von Langenbeck repair group, six of eight children had VPD, and four of six underwent pharyngeal flap. Three additional patients with nonsyndromic Robin sequence had palatoplasty and subsequent pharyngeal flap. Six of the combined total of seven children with nonsyndromic Robin sequence developed obstructive sleep apnea and require flap take-down. CONCLUSION: Since conventional pharyngeal flap for VPD in nonsyndromic Robin sequence children resulted in a high incidence of obstructive sleep apnea, alternative management should be considered: modification of the standard pharyngeal flap, palatal lengthening (V-Y or double-opposing Z-plasty), or construction of a speech bulb.

Child, Preschool↗
PubMed1999

Effect of stimulus length on nasalance scores.

OBJECTIVE: Nasalance measures were compared for speech stimuli of four different lengths. DESIGN: The standard for comparison was a 44-syllable passage. The 44-syllable passage was compared to a 17-syllable passage, a 6-syllable sentence, and a 2-syllable word. All stimuli were devoid of nasal consonants and were composed only of low pressure consonants and vowels. SETTING: Academic and clinical craniofacial center. SUBJECTS: The subjects were 20 children at risk for velopharyngeal dysfunction and 5 children without history of communication disorder. MAIN OUTCOME MEASURE(S): The main outcome measures were the nasalance scores associated with speech samples of different lengths. RESULTS: The results showed that comparable measures of nasalance can be obtained using stimuli as short as a six-syllable sentence. Both the 17-syllable and the 6-syllable stimulus achieved high criterion validity, indicating that stimuli of that length could be substituted for the longer 44-syllable passage. The two-syllable word, however, had significantly lower criterion validity and could not be used to obtain valid estimates of nasalance. CONCLUSION: Valid assessment of nasalance can be achieved with speech samples as short as six syllables.

Adolescent↗
PubMedDate not supplied

Issues in perceptual speech analysis in cleft palate and related disorders: a review.

BACKGROUND: Perceptual speech assessment is central to the evaluation of speech outcomes associated with cleft palate and velopharyngeal dysfunction. However, the complexity of this process is perhaps sometimes underestimated. AIMS: To draw together the many different strands in the complex process of perceptual speech assessment and analysis, and make recommendations for practice. MAIN CONTRIBUTION: This review examines issues such as data sampling, data collection/recording, archiving, the advantages and disadvantages of lay and specialist listeners, approaches to data analysis, reliability, and data interpretation. CONCLUSIONS: The need to capture meaningfully the sound of speech based on detailed phonetic analysis is argued. Also described are some of the differences in measuring speech for clinical, audit and research activities. Blind independent analysis of speech data by specialist therapists is recommended as the gold standard methodological approach when reporting audit and research outcomes. The requirement for ongoing training in listening skills for specialist therapists is advocated. The limitations of an impairment-based-only approach to measurement are also illustrated, indicating the need to develop outcome measures that incorporate more functional issues that affect quality of life.

Cleft Palate↗
PubMed2000

The effect of vowels on nasalance scores.

OBJECTIVE: Nasalance scores were compared for nine different speech stimuli with vowel content controlled. DESIGN: The nine speech stimuli included four vowels spoken in isolation and five sentences. The four vowels were /i/, /u/, /ae/, and /a/. Four of the five sentences were loaded with High Front, High Back, Low Front, or Low Back vowels, and the fifth sentence contained a mixture of vowel types. SETTING: Academic and clinical craniofacial center. SUBJECTS: The subjects were 19 children with velopharyngeal dysfunction (VPD) and 19 children without history of communication disorder. MAIN OUTCOME MEASURES: The main outcome measures were the nasalance scores associated with the nine different speech stimuli for two groups of subjects. RESULTS: For the VPD group, analysis of variance procedures revealed that nasalance scores for high-vowel sentences and the mixed-vowel sentence were significantly higher than the nasalance scores for the two low-vowel sentences. This pattern was the same for the non-VPD group except for the High Back/Low Back contrast, which was not significant. In both groups, nasalance scores for sustained vowels were significantly higher for the High Front vowel /i/ than for any other vowel, and nasalance was significantly higher for the High Back vowel /u/ than for either of the Low vowels /ae/ or /a/. There was no significant difference between Low vowels. CONCLUSION: Nasalance scores may be affected by the vowel content of the speech stimulus. This should be taken into consideration on a clinical basis and for research purposes.

Adolescent↗
PubMed1995

Do palatal lift prostheses stimulate velopharyngeal neuromuscular activity?

The purpose of this investigation was to evaluate the ability of palatal lift prostheses to stimulate the neuromuscular activity of the velopharynx. Nasendoscopic evaluations were audio-videotaped preprosthetic and postprosthetic management for 25 patients who underwent placement of a palatal lift prosthesis for velopharyngeal dysfunction (VPD). These audio-videotapes were presented in blinded fashion and random order to three speech pathologists experienced in assessment of patients with VPD. They rated the tapes on the following parameters: VP gap size, closure pattern, orifice estimate, direction and magnitude of change, and qualitative descriptions of the adequacy of VP closure during speech. VP closure for speech was unchanged in 69% of patients and the number of patients rated as improved or deteriorated was nearly identical at about 15%. Postintervention gap shape remained unchanged in 70% of patients. The extent of VP orifice closure during speech remained unchanged in 57% of patients. Articulations that could impair VP function improved in 30% of patients, deteriorating in only 4%. Results of this study neither support the concept that palatal lift prostheses alter the neuromuscular patterning of the velopharynx, nor provide objective documentation of the feasibility of prosthetic reduction for weaning.

Adolescent↗
PubMed2005

DiGeorge syndrome: new insights.

Most patients with the clinical features of DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes share a common genetic cause, namely, a deletion of chromosome 22q11, and define the most common deletion syndrome known at this time. The clinical features of the 22q11 deletion syndrome are highly variable between individuals; some have subtle findings, whereas others are severely affected. The most common clinical features include specific types of congenital heart disease, hypocalcemia, immunodeficiency, facial dysmorphia, palate anomalies, velopharyngeal dysfunction, renal anomalies, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders. A significant number of patients with tetralogy of Fallot, truncus arteriosus, an interrupted aortic arch, isolated aortic arch anomalies, and perimembranous ventricular septal defects have a 22q11 deletion. Routine testing for a 22q11 deletion in this subset of patients should be considered to provide anticipatory medical intervention and appropriate family counseling.

Chromosome Deletion↗
PubMed1998

A hardware-software system for analysis of video images.

The purpose of this paper is to describe a software/hardware system for the analysis of digitized video images and a number of applications for which it may be used. The system described includes a Macintosh computer, a frame-grabber board, and Image, a public domain software program available at no cost from the U.S. National Institutes of Health. In our clinic and laboratory, this system is routinely used to make quantitative measurements from videofluoroscopic x-ray images of dynamic swallow studies and studies performed to assess velopharyngeal dysfunction in speech. It can also be used to examine various laryngeal parameters obtained from videotaped endoscopic and stroboscopic examinations. With a videocamera attached to a microscope, the system permits quantitative analysis of tissue characteristics, e.g., thickness of epithelial or connective tissue layers of the vocal folds. The relatively low cost and ease of use of the image analysis system make it a particularly attractive option when quantitative assessment of clinical or research materials in video format is desirable.

Computers↗
PubMed2004

[Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].

22q11.2 deletion syndrome is the most common interstitial deletion syndrome in humans. Patients with this syndrome can show a variety of somatic symptoms, especially characteristic facial abnormalities, heart defects, thymic hypo- or aplasia and velopharyngeal dysfunction with or without cleft palate. Disturbancies in motor, language, cognitive and social development are typical, as well as psychiatric disorders. Psychiatric disorders in children and adolescents are mostly attention-deficit/hyperactivity disorder, affective disorders, and autism spectrum problems. Schizophrenia in adults seems to be caused by 22q11.2 deletion in about 2% of all patients. We review current knowledge about etiology, physical features, developmental aspects and psychiatric comorbidity in 22q11.2 deletion syndrome as well as possible therapeutic interventions. Clinical criteria for genetic examinations on 22q11.2 deletion in children and adolescents with psychiatric disorders are defined. Until now 22q11.2 deletion is underdiagnosed in this population--despite of its clinical relevance.

Abnormalities, Multiple↗
PubMed1999

Long-term stability of postpalatoplasty perceptual speech ratings: a prospective study.

This prospective study was undertaken to assess the long-term stability of velopharyngeal perceptual speech ratings of patients with repaired cleft palate. All patients were evaluated and managed at the Cleft Palate and Craniofacial Deformities Institute, St. Louis Children's Hospital. Patients alternately received palatoplasty with or without intravelar veloplasty. Two senior surgeons standardized their operative procedures and performed or supervised directly all operations. Perceptual speech and language evaluations were conducted by the same experienced speech pathologist when the children were 6 years old and 12 years or older. Data were analyzed from the 28 patients available for long-term follow-up. The intravelar veloplasty (N = 14) and nonintravelar veloplasty (N = 14) groups were similar with respect to cleft anatomy and mean age at palatoplasty and at the second perceptual speech evaluation. Evaluation of the 12-year-old and older ratings indicated that the overwhelming majority of patients improved or maintained clinical stability in perceptual ratings of velopharyngeal function. When assessing direction and magnitude of change (i.e., incremental improvement vs. deterioration), the intravelar veloplasty and nonintravelar veloplasty groups had a similar distribution of perceptual speech ratings at both the 6-year and 12-year or older speech evaluations. Results were consistent with previously published data from our center, that the intravelar veloplasty procedure did not affect demonstrably the incidence of postpalatoplasty auditory perceptual symptoms of velopharyngeal dysfunction.

Age Factors↗
PubMed1999

Cleft-palate repair by modified Furlow double-opposing Z-plasty: the Children's Hospital of Philadelphia experience.

Although the optimal technique of cleft-palate repair remains controversial, several small series have suggested that superior speech results may be obtained with the Furlow double-opposing Z-plasty. To examine speech outcome in a large series of Furlow palatoplasties performed at a single center, we retrospectively reviewed the records of 390 cleft-palate patients who underwent Furlow palatoplasty at The Children's Hospital of Philadelphia from 1979 to 1992. Speech outcome at 5 years of age or greater was available for 181 nonsyndromic patients and was scored using the Pittsburgh Weighted Values for Speech Symptoms Associated with Velopharyngeal Incompetence. No or mild hypernasality was noted in 93.4 percent of patients, with 88.4 percent demonstrating no or inaudible nasal escape and 97.2 percent demonstrating no errors in articulation associated with velopharyngeal incompetence. Secondary pharyngeal flap surgery was required in just 7.2 percent of patients. Age at palatoplasty, cleft type, and experience of the operating surgeon had no significant effect on speech results, although there was a trend toward better outcome in those undergoing palatal repair before 6 months of age and toward poorer outcome in those with Veau class I and II clefts. Overall, Furlow palatoplasty yielded outstanding speech results, with rates of velopharyngeal dysfunction that seem to improve upon those reported for other techniques.

Child, Preschool↗
PubMed1993

Oronasal fistulas in cleft palate patients and their influence on speech.

The size, site, and influence on speech of oronasal fistulas were studied in 12 patients with unilateral and 32 with bilateral cleft lip and palate. There were more and larger fistulas in the bilateral group. The series was divided into: those with fistulas that affected speech (group A, n = 18) and those with fistulas that did not affect their speech (group B, n = 26). Group A had significantly larger fistulas than group B, but there were no differences in the sites of the fistulas, either between the bilateral and unilateral groups or between groups A and B. Most fistulas were located in the region of the incisive foramen or in the hard palate. Judgements by listeners and analyses by the NORAM instrument were made of the speech of 12 of the patients in group A before and after temporary covering of the fistulas. Significant differences in hypernasality, according to both listener's judgments and instrumental analyses were found. This finding is further evidence that an oronasal fistula can influence and contribute to velopharyngeal dysfunction.

Adolescent↗
PubMed1994

A screening assessment of cleft palate speech (Great Ormond Street Speech Assessment).

This paper presents a comprehensive screening procedure for describing the speech characteristics commonly associated with cleft palate and/or velopharyngeal dysfunction. A unique method of representing the information visually is proposed. The theoretical background and recommendations for clinical application are discussed. This procedure is designed for use by specialist and non-specialist speech and language therapists working in this field. It has been developed primarily with a child population but can be used with all age groups. It provides a structure for assessment, record keeping, report writing and research, thereby facilitating the development of intercentre studies.

Child↗
PubMed1996

Pediatric transoral surgery: indications, complications, and long-term outcome.

Knowledge of the role and hazards of transoral surgery has expanded rapidly, but the application of this technique in children has been limited. To assess its usefulness, 27 pediatric patients who underwent transoral surgery between 1985 and 1994 were studied. Transoral surgery was performed for irreducible anterior neuraxial compression at the craniovertebral junction caused by basilar impression, atlantoaxial subluxation with pseudotumor, or chordoma. The patients ranged in age from 3 to 17 years. Symptomatic presentation varied widely, but 89% had significant neurological deficits before surgery. No patient with normal strength deteriorated after surgery. Of the 16 patients with a preoperative motor deficit, nine improved rapidly, three were unchanged, and four significantly worsened in the perioperative period. Those with mobile atlantoaxial subluxation were most vulnerable to surgically related neurological morbidity. Twenty-four patients were alive for long-term follow-up study (average 5.7 years, range 1-9.2 years). Of those with preoperative weakness, nine improved one Frankel grade, four remained the same, and one deteriorated from Frankel Grade D to C. Swallowing and speech worsened in five patients; this occurred only after resection of lesions above the foramen magnum (p<0.05) when rostral pharyngeal disruption resulted in velopharyngeal dysfunction. This study, unlike previous reviews of pediatric transoral operations, leads the authors to suggest that although transoral surgery can be effective, it also carries a significant risk of neurological injury in patients with symptomatic spinal cord compression and it is also associated with long-term swallowing and speech difficulties.

Adolescent↗