Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study.

OBJECTIVE: Velopharyngeal dysfunction (VPD) associated with 22q11.2 deletion syndrome (22q11.2DS) has a complex etiology. This study had 3 aims: (1) assess differences in velopharyngeal and levator muscle configuration during rest versus sustained speech production (2) compare differences in velopharyngeal changes between children with and without 22q11.2DS (3) examine the relationship between adenoid thickness, pharyngeal depth, and velopharyngeal changes. DESIGN: Cross-sectional. METHODS: A total of 22 participants, 11 with 22q11.2DS and 11 controls with normal speech and velopharyngeal anatomy (ages 4-12 years), underwent nonsedated MRI at rest and during sustained /i/. Differences in velar and levator muscle contraction across the 2 different conditions were analyzed, using matched paired t-tests. Mean differences across participant groups were examined. Correlation analyses were also conducted. RESULTS: When comparing differences between rest and sustained phoneme production (aim 1), significant (P < .05) differences were noted for all velar and levator muscle variables. For differences in velopharyngeal changes between children with and without 22q11.2DS (aim 2), VP ratio and effective VP ratio were noted to be significantly different. Pharyngeal depth and adenoid thickness were correlated with velar and levator muscle change measures and ratios (aim 3). CONCLUSION: Results from this study provide quantitative in vivo measurements of the contracted levator muscle and velum in young children with 22q11.2DS. Results demonstrated that VP ratio and EVP ratio are significantly different between children with and without 22q11.2DS and that pharyngeal depth is a strong clinical determinant of VPD in children with 22q11.2DS.

Standardization of Videorecorded Speech Samples for Children with Cleft Palate: Methods to Facilitate High-Quality Speech Outcomes Data Collection.

BACKGROUND: Collection of high-quality videorecorded speech samples is essential for speech outcomes research. SOLUTION: Cleft palate team SLPs were trained to collect standard videorecorded speech samples in the clinic setting across 20 sites in North America. Standard training and equipment was provided. WHAT WE DID THAT IS NEW: Quality management procedures were developed and utilized to verify video quality and protocol adherence. Over 97% of speech samples collected by trained SLPs met defined quality standards.

Examining Risk of Speech-Language Disorders in Children With Cleft Lip.

ABSTRACT: Although it is well-established that children with cleft palate are at high risk for communication disorders, little is known about the speech-language profiles of children with cleft lip (with or without cleft alveolus), who do not have an overt cleft palate. The purpose of this study was to determine the prevalence of speech-language disorders in a consecutively evaluated group of children with cleft lip, with or without cleft alveolus (CL ±â€ŠA) from a single cleft lip and palate center in the United States. We also explored the types of speech and language disorders in this cohort and examined the impact of co-occurring syndromes and other diagnoses (eg, submucous cleft palate). Eighty-six children (58 males, 28 females) with CL ±â€ŠA, evaluated between the ages of 12 and 72 months, were included in the study. Forty children had cleft lip and alveolus; 46 children had isolated cleft lip. We examined the proportion of children with CL ±â€ŠA who received team care, speech-language evaluations, and audiograms, as well as the number of children with CL ±â€ŠA diagnosed with a communication disorder. Fifty-three percent (n = 46) of children with CL ±â€ŠA had received at least 1 speech-language evaluation. Approximately 40% of children with CL ±â€ŠA who underwent evaluation by a speech-language pathologist were diagnosed with some type of communication disorder. Nine children (21%) with CL ±â€ŠA displayed an articulation disorder and 12 (27%) presented with a language delay/disorder. Statistical analysis examined the potential impact of comorbid diagnoses such as submucous cleft palate and other congenital anomalies, and results were essentially unchanged. Results of this study are congruent with past reports suggesting children with CL ±â€ŠA have a higher risk of communication disorders than the general pediatric population. Surgeons should be aware of the growing body of evidence that children with CL ±â€ŠA benefit from cleft team care, which should include routine speech-language assessments starting at an early age to ensure identification of conditions warranting intervention.

Protocol for a Prospective Observational Study of Revision Palatoplasty Versus Pharyngoplasty for Treatment of Velopharyngeal Insufficiency Following Cleft Palate Repair.

OBJECTIVE: To present the design and methodology for an actively enrolling comparative effectiveness study of revision palatoplasty versus pharyngoplasty for the treatment of velopharyngeal insufficiency (VPI). DESIGN: Prospective observational multicenter study. SETTING: Twelve hospitals across the United States and Canada. PARTICIPANTS: Individuals who are 3-23 years of age with a history of repaired cleft palate and a diagnosis of VPI, with a total enrollment target of 528 participants. INTERVENTIONS: Revision palatoplasty and pharyngoplasty (either pharyngeal flap or sphincter pharyngoplasty), as selected for each participant by their treatment team. MAIN OUTCOME MEASURE(S): The primary outcome is resolution of hypernasality, defined as the absence of consistent hypernasality as determined by blinded perceptual assessment of a standard speech sample recorded twelve months after surgery. The secondary outcome is incidence of new onset obstructive sleep apnea. Statistical analyses will use propensity score matching to control for demographics, medical history, preoperative severity of hypernasality, and preoperative imaging findings. RESULTS: Study recruitment began February 2021. As of September 2022, 148 participants are enrolled, and 78 have undergone VPI surgery. Enrollment is projected to continue into 2025. Collection of postoperative evaluations should be completed by the end of 2026, with dissemination of results soon thereafter. CONCLUSIONS: Patients with VPI following cleft palate repair are being actively enrolled at sites across the US and Canada into a prospective observational study evaluating surgical outcomes. This study will be the largest and most comprehensive study of VPI surgery outcomes to date.

Cleft Palate Repair Postoperative Management: Current Practices in the United States.

OBJECTIVE: To describe current postoperative management practices following cleft palate repair. DESIGN: A survey was administered to cleft surgeons to collect information on their demographic characteristics, surgical training, surgical practice, and postoperative management preferences. SETTING: Eighteen tertiary referral hospitals across the United States.Participants: Surgeons (n = 67) performing primary cleft palate repair. RESULTS: Postoperative diet restrictions were imposed by 92% of surgeons; pureed foods were allowed at one week after surgery by 90% of surgeons; a regular diet was allowed at one month by 80% of surgeons. Elbow immobilizers and/or mittens were used by 85% of surgeons, for a median duration of two weeks. There was significant disagreement about postoperative use of bottles (61% allow), sippy cups (68% allow), pacifiers (29% allow), and antibiotics (45% prescribe). Surgeon specialty was not associated with any aspect of postoperative management (p > 0.05 for all comparisons). Surgeon years in practice, a measure of surgeon experience, was associated only with sippy cup use (p < 0.01). The hospital at which the surgeon practiced was associated with diet restrictions (p < 0.01), bottle use (p < 0.01), and use of elbow immobilizers or mittens (p < 0.01); however, many hospitals still had disagreement among their surgeons. CONCLUSIONS: Surgeons broadly agree on diet restrictions and the use of elbow immobilizers or mittens following palate repair. Almost all other aspects of postoperative management, including the type and duration of diet restriction as well as the duration of immobilizer use, are highly individualized.

Improving Psychosocial Risk Assessment and Service Provision for Craniofacial Team Patients: A Quality Improvement Project.

To improve psychosocial risk assessment and service provision for children with craniofacial conditions presenting for annual interdisciplinary team visits.Institute for Healthcare quality improvement model.U.S. pediatric academic medical center.Caregivers of children ages 0-17 years with craniofacial conditions presenting for 1692 team visits between August 2017 and July 2019.Key drivers included: (1) standardizing pre-visit triage processes; (2) administering the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV); (3) utilizing PAT-CV scores in real time to add patients to psychosocial provider schedules; and (4) family education. Interventions included improving patient screening, increasing PAT-CV completion rate, altering clinic flow, providing patient and parent education about psychosocial services, and altering team member roles to fully integrate PAT-CV administration and scoring in the clinic.The primary outcome was the percentage of patients identified for psychosocial consultations via nurse triage, PAT-CV score, family or provider request who completed consultations. The secondary outcome was the percentage of patients completing needed psychosocial consultations based on elevated PAT-CV scores.Use of the PAT-CV resulted in an increase in the percentage of patients with elevated psychosocial risk who received a psychosocial consultation from 86.7% to 93.4%. The percentage of children receiving psychosocial consultation at their annual team visit due to elevated PAT-CV scores increased from 72% to 90%.Integrating a validated psychosocial risk screening instrument can improve risk identification and psychosocial consultation completion. A combination of risk screening approaches may be indicated to identify patients in need of psychosocial services.

Core Outcome Set for Reporting Outcomes of Interventions for Velopharyngeal Dysfunction: Final Results of the COS-VPD Initiative.

OBJECTIVE: To date, the recording of outcomes of interventions for velopharyngeal dysfunction (VPD) has not been standardized. This makes a comparison of results between studies challenging. The aim of this study was to develop a core outcome set (COS) for reporting outcomes in studies examining the management of VPD. DESIGN: A two-round Delphi consensus process was used to develop the COS. PATIENTS, PARTICIPANTS: The expert Delphi panel comprised patients and caregivers of patients with VPD, surgeons and speech and language therapists specializing in cleft palate, and researchers with expertise in VPD. INTERVENTIONS: A long list of outcomes was derived from the published literature. In each round of a Delphi survey, participants were asked to score outcomes using the Grading of Recommendations, Assessment, Development, and Evaluations scale of 1 to 9, with 1 to 3 labeled "not important," 4 to 6 labeled "important but not critical," and 7 to 9 labeled "critical." MAIN OUTCOME MEASURE: Consensus criteria were specified a priori. Outcomes with a rating of 75% or more of the panel rating 7 to 9 and 25% or fewer rating 1 to 3 were included in the COS. RESULTS: A total of 31 core outcomes were identified from the Delphi process. This list was condensed to combine topic areas to produce a final COS of 10 outcomes, including both processes of care and patient-reported outcomes that should be considered for reporting in future studies of VPD. CONCLUSIONS: Implementation of the COS-VPD will facilitate consistency of outcomes data collection and comparison of results across studies.

Establishing a Clinical Protocol for Velopharyngeal MRI and Interpreting Imaging Findings.

Traditional imaging modalities used to assess velopharyngeal insufficiency (VPI) do not allow for direct visualization of underlying velopharyngeal (VP) structures and musculature which could impact surgical planning. This limitation can be overcome via structural magnetic resonance imaging (MRI), the only current imaging tool that provides direct visualization of salient VP structures. MRI has been used extensively in research; however, it has had limited clinical use. Factors that restrict clinical use of VP MRI include limited access to optimized VP MRI protocols and uncertainty regarding how to interpret VP MRI findings. The purpose of this paper is to outline a framework for establishing a novel VP MRI scan protocol and to detail the process of interpreting scans of the velopharynx at rest and during speech tasks. Additionally, this paper includes common scan parameters needed to allow for visualization of velopharynx and techniques for the elicitation of speech during scans.

Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation.

OBJECTIVES: To prospectively quantify bleeding severity and elaborate hemorrhagic symptoms in children with 22q11.2 deletion syndrome (22q11DS) using 2 validated bleeding assessment tools (BATs), namely the Pediatric Bleeding Questionnaire and the International Society on Thrombosis and Hemostasis BAT (ISTH-BAT). We also sought to compare subjects' bleeding scores to unaffected first-degree family members. STUDY DESIGN: Children with 22q11DS and unaffected first-degree family members were recruited for the study. Two validated BATs were administered by a pediatric hematologist. Additional clinical and laboratory data were abstracted from patient medical records. Standard descriptive and nonparametric statistical methods were used. RESULTS: In total, 29 eligible subjects and controls were assessed. Median age (range) of subjects and controls was 8 (5-17) years and 38 (9-56) years, respectively. In total, 17 of 29 subjects had a positive bleeding score on ISTH-BAT compared with 1 of 29 control patients (P < .0001). Median ISTH-BAT score in subjects was 3 (0-12), compared with 2 (0-6) in control patients (P = .022). Median Pediatric Bleeding Questionnaire score in subjects was 2 (-1 to 12). The most frequent bleeding symptoms reported in subjects with 22q11DS were epistaxis (69%) and bruising (52%). Eighteen subjects had been surgically challenged, and 6 were noted to have increased perioperative hemorrhage. CONCLUSIONS: Children with 22q11DS have increased bleeding scores compared with their first-degree unaffected relatives. The majority of the bleeding symptoms described were mucocutaneous.

Infant-Driven Feeding Systems: Do They "Normalize" the Feeding Experience of Infants With Cleft Palate?

OBJECTIVE: To examine feeding skills of infants with cleft palate with or without cleft lip (CP±L) using infant-driven feeding systems compared to healthy controls on standard bottles. DESIGN: Cross-sectional cohort. SETTING: Large pediatric academic medical center in the Midwestern United States. PARTICIPANTS: Infants with CP±L (n = 15) using the Dr. Brown's Specialty Feeding System and typically developing infants without CP±L (n = 15) using the Dr. Brown's Natural Flow Original or Options bottles. MAIN OUTCOME MEASURE(S): Bottle-feeding proficiency, duration, milk transfer, and signs of feeding difficulty. RESULTS: Five-minute feeding proficiency differed significantly between groups with the control group taking 44% of the feed compared to 15% for the CP±L group on level 1 (P < .001) and 21% on level 2 (P < .001) nipples. Proportion of milk transfer was 96% ± 7% for controls and 75% ± 24% for the CP±L group (P = .013). Feeding duration (minutes) differed between the control group (13 ± 3) and the CP±L groups on each nipple level (level 1: 29 ± 16; P = .003; level 2: 32 ± 11; P = .001). Milk transfer rate (mL/min) was 9 ± 3 for control infants compared to 3 ± 1 for infants with CP±L on level 1 (P < .001) and 5 ± 1 on level 2 (P = .007). Coughing occurred in 40% of infants with CP±L and 27% of controls. CONCLUSIONS: Even when using specialty bottles, infants with CP±L differ from noncleft infants in feeding proficiency, duration, and overall intake.

Feeding and Growth in Infants With Cleft Lip and/or Palate: Relationships With Maternal Distress.

OBJECTIVE: To examine relationships between early feeding and growth and maternal distress in infants with and without cleft lip and/or palate (CL/P). DESIGN: Cross-sectional. SETTING: Pediatric academic medical center in the Midwestern United States. PARTICIPANTS: Mothers of infants 1 to 12 weeks old with CL/P (n = 30) and without CL/P (control group, n = 30) were recruited at craniofacial clinic or pediatrician appointments. MAIN OUTCOME MEASURE(S): Maternal responses on the Feeding/Swallowing Impact Survey (FS-IS), Parenting Stress Index, Fourth Edition, Short Form (PSI-4-SF), and Edinburgh Postnatal Depression Scale. Infant feeding history and growth measurements were obtained. RESULTS: Having an infant with CL/P revealed greater impact on maternal health-related quality of life due to feeding problems (F = 4.83, P = .03). Mothers of infants with CL/P reported average range Total Stress scores on the PSI-4-SF, which were higher than controls (F = 4.12, P = .05). Edinburgh Postnatal Depression Scale scores did not differ between groups. Compared to controls, infants with cleft palate had lower percentiles for weight (t = 4.13, P = .04) and length (t = 2.93, P = .01). Higher FS-IS scores were associated with longer feeding duration (r = 0.32, P = .01) and lower weight (r = -0.31, P = .02) and length (r = -0.32, P = .02). CONCLUSIONS: Despite receiving early team care and feeding interventions, mothers of infants with CL/P reported higher stress and more challenges with feeding and growth. Future studies should examine targeted psychosocial interventions to improve feeding and growth outcomes in infants with CL/P.

Breast Milk Feeding Practices and Barriers and Supports Experienced by Mother-Infant Dyads With Cleft Lip and/or Palate.

OBJECTIVE: To examine trends in breast milk provision and to characterize the breast milk feeding practices experienced by mother-infant dyads with cleft lip and/or palate (CL/P) in a large US sample. DESIGN: Cross-sectional study. METHODS: An online survey was distributed through cleft-related social media sites in the United States and in a single cleft lip and palate clinic. Statistical analyses included Kruskal-Wallis H tests and post hoc Mann-Whitney tests to examine group differences based on cleft type and prenatal versus postnatal cleft diagnosis. Linear regression was used to estimate associations between obtained variables. PARTICIPANTS: One hundred fifty biological mothers of infants (8-14 months of age) with CL/P (15% cleft lip, 29% cleft palate, 56% cleft lip and palate). RESULTS: Forty-six percent of mothers of infants with CL/P provided breast milk to their infant for at least 6 months. Five percent of infants ever fed at breast, and 43% received pumped breast milk via bottle. The most commonly reported supports included lactation consultants, nurses, feeding therapists, and online support groups. Feeding therapy was received by 48% of infants. CONCLUSIONS: A lower percentage of mothers of infants with CL/P reported providing breast milk compared to national estimates of the general population of infants without clefting. Results suggested there are multiple barriers, as well as numerous medical and psychosocial supports that facilitated breast milk feeding success. Implications for care are discussed.

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.

OBJECTIVE: To evaluate disease-specific guideline adherence among children with 22q11.2 deletion syndrome receiving multidisciplinary team care through a 22q specialty clinic compared to children not receiving team care. DESIGN: Retrospective chart review; quality improvement project. SETTING: Tertiary care pediatric hospital. PATIENTS: One hundred eighty-nine patients with 22q11.2 deletion syndrome were categorized into those receiving team care and those not receiving team care. Guideline adherence was compared between the 2 groups. MAIN OUTCOME MEASURE(S): Percent adherence across 8 disease-specific guidelines. RESULTS: A Welch t test revealed mean adherence among patients receiving team care was significantly higher (83% vs 42%, P < .001) compared those not receiving team care. Among team patients with a single 22q Center visit, a paired samples t test showed that mean adherence increased from 63% before the clinic encounter to 86% six months after the encounter (P < .001). Some guidelines were more likely to be associated with provider nonadherence, whereas others were more likely to be associated with patient nonadherence. CONCLUSIONS: Multidisciplinary team care is associated with significantly higher guideline adherence in children with 22q11DS. Additional research is needed to investigate the effect of team care on long-term health outcomes in children with 22q11DS.

Velopharyngeal Structural and Muscle Variations in Children With 22q11.2 Deletion Syndrome: An Unsedated MRI Study.

OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic cause of velopharyngeal dysfunction; however, limited information exists regarding variations in velopharyngeal anatomy in this clinically challenging population. The purpose of this study was to examine velopharyngeal characteristics among young children with 22q11.2DS in comparison to a normative cohort using an innovative, nonsedated magnetic resonance imaging (MRI) scanning protocol. METHODS: Fifteen children with 22q11.2DS and 15 age- and gender-matched controls with normal velopharyngeal anatomy (ages 4-12) successfully completed the MRI protocol. Eighteen velopharyngeal and 2 related craniofacial measures were examined. Analysis of covariance was used to compare differences between the experimental and the control groups. RESULTS: The 22q11.2DS group demonstrated a significantly thinner velum (P < .0005) and a larger pharyngeal depth (P = .007) compared to the matched control group. Findings in the current study also demonstrated that the levator veli palatini muscle is significantly shorter (P = .037) and thinner (P = .025) in the 22q11.2DS cohort, with a significantly shorter origin-to-origin distance (P < .0005) and a greater angle of origin (P = .001) compared to healthy peers. CONCLUSION: Children with 22q11.2DS demonstrated multiple variations that may contribute to velopharyngeal dysfunction by altering the anatomic characteristics of the velopharyngeal port, the levator muscle, and associated structures. This investigation represents the first and largest attempt to characterize velopharyngeal anatomy in children with 22q11.2DS using a nonsedated MRI protocol.

A Quality Improvement Initiative to Improve Feeding and Growth of Infants With Cleft Lip and/or Palate.

OBJECTIVE: The purpose of this quality improvement initiative was to improve feeding and growth outcomes in infants with cleft lip and/or palate (CL/P). DESIGN: Institute for Healthcare Improvement quality improvement model. SETTING: Large pediatric academic medical center in the Midwestern United States. PARTICIPANTS: One hundred forty-five infants with nonsyndromic CL/P ages 0 to 12 months. INTERVENTIONS: Key drivers included (1) caregiver education and resources, (2) care coordination and flow, and (3) provider education and training. Interventions were designed around these themes and included targeting improved team communication, increased social work consultations, patient tracking, staff education, improved access to feeding equipment, and the launch of a new cleft palate feeding team. MAIN OUTCOME MEASURE(S): The primary outcome measure was the percentage of new patients with CL/P who met criteria for failure to thrive (FTT) per month. The secondary outcome measure was the frequency of hospitalization for infants with CL/P with a primary reason for admission of feeding difficulties or FTT. RESULTS: The institutional FTT rate for infants with CL/P decreased from 17% to 7% ( P < .003). The frequency of hospitalization for FTT improved from once every 30 days to once every 118 days. CONCLUSIONS: Targeted interventions aimed at improving feeding efficiency and effectiveness, as well as changes in care delivery models, can reliably promote improvements in feeding and growth outcomes for infants with CL/P, even with psychosocial risk factors present.

Book-Sharing for Toddlers with Clefts (BOOST): Protocol for a randomized controlled trial of a remote intervention to promote language development in children with cleft palate.

BACKGROUND: Children with cleft palate, with or without cleft lip (CP±L), exhibit language delays on average compared to children without clefts. Interventions to address these disparities are scarce. In this multi-center study, Book Sharing for Toddlers with Clefts (BOOST), we will test a remote, parent-focused intervention to promote language development in children with CP±L. OBJECTIVES: The study will test two primary hypotheses. First, toddlers randomized to BOOST will exhibit better language outcomes than children receiving standard-of-care (SOC). Second, we hypothesize that the BOOST program's effect on language outcomes is mediated by the frequency and quality of parent-child reading interactions. METHODS: The study is a randomized-controlled trial comparing the BOOST group to a SOC comparison group. We will enroll N = 320 English and/or Spanish-speaking children ages 24-32 months with isolated CP±L (n = 160 per group). Both groups will receive children's books, and parents will record and upload videos of themselves reading the books with their children using a smartphone app developed for the study. Parents will also complete surveys asking whether they read to their children on five randomly selected days each week. In addition, the BOOST group will participate in 3 remote dialogic book-sharing intervention sessions via Zoom. We will code book-sharing videos to assess parents' target skill usage and children's expressive language. End-of-study assessments will include measures of child language outcomes (e.g., clinician-administered measures, parent reports, and naturalistic child language samples). RESULTS: Enrollment began in April 2024 and will continue through approximately April 2028. CONCLUSION: The BOOST study will address a critical gap in the literature on interventions to improve language in children with CP±L. The results will inform the care for toddlers with oral clefts and have potential applications for other populations.

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.

KMT2E-related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p.[Tyr779AlafsTer41]), intellectual disability, cerebellar hypoplasia, and velopharyngeal dysfunction. This case suggests potential mechanisms of speech disturbance in the disorder, requiring further investigation.

Perceptions of audible nasal emission in speakers with cleft palate: a comparative study of listener judgments.

OBJECTIVE: Audible nasal emission is a common speech distortion observed in persons with cleft palate. This study examined the validity and reliability of perceptual judgments of audible nasal emission using interval scaling and magnitude estimation techniques. PARTICIPANTS: Speech samples were collected from six adolescents with repaired cleft palate, all of whom demonstrated audible nasal emission. A total of 31 adults performed rating tasks in which they judged the severity of audible nasal emission in speech samples. MEASURES: Occurrences of audible nasal emission in speech samples were identified using visual and auditory inspection. Using an acoustic modification technique, samples were digitally modified to amplify perceived occurrences of audible nasal emission to create three stimulus conditions. The original recording of the speech samples served as a control condition. The severity of audible nasal emission in the samples was judged by multiple listeners using interval scaling and magnitude estimation without a modulus. Statistical analysis included analysis of variance, regression, and curve-fitting methods. RESULTS: Magnitude-estimation ratings demonstrated stronger evidence of validity and reliability than interval scaling. A curvilinear relationship was found between the sets of ratings. CONCLUSIONS: The results of this study suggest that audible nasal emission may be a prothetic or ratio-level perceptual continua. Listeners should consider using magnitude estimation or other ratio-based methods for perceptual judgments of audible nasal emission.