Timing of Primary Surgery for Cleft Palate.

BACKGROUND: Among infants with isolated cleft palate, whether primary surgery at 6 months of age is more beneficial than surgery at 12 months of age with respect to speech outcomes, hearing outcomes, dentofacial development, and safety is unknown. METHODS: We randomly assigned infants with nonsyndromic isolated cleft palate, in a 1:1 ratio, to undergo standardized primary surgery at 6 months of age (6-month group) or at 12 months of age (12-month group) for closure of the cleft. Standardized assessments of quality-checked video and audio recordings at 1, 3, and 5 years of age were performed independently by speech and language therapists who were unaware of the trial-group assignments. The primary outcome was velopharyngeal insufficiency at 5 years of age, defined as a velopharyngeal composite summary score of at least 4 (scores range from 0 to 6, with higher scores indicating greater severity). Secondary outcomes included speech development, postoperative complications, hearing sensitivity, dentofacial development, and growth. RESULTS: We randomly assigned 558 infants at 23 centers across Europe and South America to undergo surgery at 6 months of age (281 infants) or at 12 months of age (277 infants). Speech recordings from 235 infants (83.6%) in the 6-month group and 226 (81.6%) in the 12-month group were analyzable. Insufficient velopharyngeal function at 5 years of age was observed in 21 of 235 infants (8.9%) in the 6-month group as compared with 34 of 226 (15.0%) in the 12-month group (risk ratio, 0.59; 95% confidence interval, 0.36 to 0.99; P = 0.04). Postoperative complications were infrequent and similar in the 6-month and 12-month groups. Four serious adverse events were reported (three in the 6-month group and one in the 12-month group) and had resolved at follow-up. CONCLUSIONS: Medically fit infants who underwent primary surgery for isolated cleft palate in adequately resourced settings at 6 months of age were less likely to have velopharyngeal insufficiency at the age of 5 years than those who had surgery at 12 months of age. (Funded by the National Institute of Dental and Craniofacial Research; TOPS ClinicalTrials.gov number, NCT00993551.).

Inter-rater reliability in classification of canonical babbling status based on canonical babbling ratio in infants with isolated cleft palate randomised to Timing of Primary Surgery for Cleft Palate (TOPS).

Canonical babbling (CB) is commonly defined as present when at least 15% of all syllables produced are canonical, in other words a canonical babbling ratio (CBR) ≥0.15. However, there is limited knowledge about inter-rater reliability in classification of CB status based on CBR and inter-rater differences in assessment of CBR. We investigated inter-rater reliability of experienced Speech Language Therapists (SLTs) on: classification of CB status based on CBR ≥ 0.15, CBRs and the total number of syllables per infant used to calculate CBR.Each infant (n = 484) was video-recorded at a clinical site in play interaction with their parent as part of the randomised controlled trial Timing of Primary Surgery for Cleft Palate. Each recording was subsequently assessed by three independent SLTs, from a pool of 29 SLTs. They assessed the recordings in real time.The three assessing SLTs agreed in classification of CB status in 423 (87.4%) infants, with higher complete agreement for canonical (91%; 326/358) than non-canonical (77%; 97/126). The average difference in CBR and total number of syllables identified between the SLT assessments of each infant was 0.12 and 95, respectively.This study provided new evidence that one trained SLT can reliably classify CB status (CBR ≥ 0.15) in real time when there is clear distinction between the observed CBR and the boundary (0.15); however, when the observed CBR approaches the boundary multiple SLT assessments are beneficial. Thus, we recommend to include assessment of inter-rater reliability, if the purpose is to compare CBR and total syllable count across infants or studies.Trial registration number here: www.clinicaltrials.gov, identifier NCT00993551.

Scandcleft Project Trial 3: Comparison of Speech Outcomes in Relation to Sequence in 2-Stage Palatal Repair Procedures in 5-Year-Olds With Unilateral Cleft Lip and Palate.

OBJECTIVE: To compare speech outcome following different sequencing of hard and soft palate closure between arms and centers within trial 3 and compare results to peers without cleft palate. DESIGN: A prospective randomized clinical trial. SETTING: Two Norwegian and 2 British centers. PARTICIPANTS: One hundred thirty-six 5-year-olds with unilateral cleft lip and palate were randomized to either lip and soft palate closure at 3 to 4 months and hard palate closure at 12 months (arm A) or lip and hard palate closure at 3 to 4 months and soft palate closure at 12 months (arm D). MAIN OUTCOME MEASURES: A composite measure of velopharyngeal competence (VPC), overall assessment of VPC from connected speech (VPC-Rate). Percentage of consonants correct (PCC), active cleft speech characteristics (CSCs), subdivided by oral retracted and nonoral errors, and developmental speech characteristics (DSCs). RESULTS: Across the trial, 47% had VPC, with no statistically significant difference between arms within or across centers. Thirty-eight percent achieved a PCC score of >90%, with no difference between arms or centers. In one center, significantly more children in arm A produced ≥3 active CSCs (P < .05). Across centers, there was a statistically significant difference in active CSCs (arm D), oral retracted CSCs (arm D), and DSCs (arms A and D). CONCLUSIONS: Less than half of the 5-year-olds achieved VPC and around one-third achieved age-appropriate PCC scores. Cleft speech characteristics were more common in arm A, but outcomes varied within and across centers. Thus, outcome of the same surgical method can vary substantially across centers.

A cross-sectional cohort study of speech in five-year-olds with cleft palate ± lip to support development of national audit standards: benchmarking speech standards in the United Kingdom.

OBJECTIVE: To develop national standards for speech outcomes and processes of care for children with cleft palate ± lip and to test the standards using national data. DESIGN, SETTING, AND PARTICIPANTS: In this large, multicenter, prospective cohort study, speech recordings of 1110 five-year-olds with cleft palate involvement (born 2001 to 2003) were collected by 12 cleft centers in Great Britain and Ireland. Recordings were analyzed by consensus by specialist speech and language therapists using the Cleft Audit Protocol for Speech-Augmented. Results were benchmarked against evidence-based process and speech outcome standards and statistical analysis undertaken. RESULTS: From the 1110 children audited, 48% (530) had speech within the normal range. This was not significantly different from the agreed standard of 50% (P = .20, CI = 45-50%). Sixty-six percent (734) had speech with no evidence of structurally related speech problems or history of speech-related secondary surgery. This was significantly below the standard of 70% (P = .007, CI = 62-69%). Sixty percent (666) had no serious cleft-related articulation errors. This was significantly better than the agreed standard of 50% (P < .001, CI = 67-73%). More than 80% of 2-year-olds received a specialist speech and language assessment against a benchmark of 100%. CONCLUSIONS: Developing standards has facilitated more meaningful reporting of speech outcomes and treatment processes. Evidence-based standards were defined and extensively tested, enabling centers to compare their performance with national trends. One 5-year outcome standard was achievable; the other two standards will require modification through the mandatory annual national audit program.

Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 4. Speech outcomes in 5-year-olds - velopharyngeal competency and hypernasality.

BACKGROUND AND AIM: Adequate velopharyngeal function and speech are main goals in the treatment of cleft palate. The objective was to investigate if there were differences in velopharyngeal competency (VPC) and hypernasality at age 5 years in children with unilateral cleft lip and palate (UCLP) operated on with different surgical methods for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy. DESIGN: Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. METHODS: Three different surgical protocols for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. Speech audio and video recordings of 391 children (136 girls, 255 boys) were available and perceptually analysed. The main outcome measures were VPC and hypernasality from blinded assessments. RESULTS: There were no statistically significant differences between the prevalences in the arms in any of the trials. VPC: Trial 1, A: 58%, B: 61%; Trial 2, A: 57%, C: 54%; Trial 3, A: 35%, D: 51%. No hypernasality: Trial 1, A: 54%, B: 44%; Trial 2, A: 47%, C: 51%; Trial 3, A: 34%, D: 49%. CONCLUSIONS: No differences were found regarding VPC and hypernasality at age 5 years after different methods for primary palatal repair. The burden of care in terms of secondary pharyngeal surgeries, number of fistulae, and speech therapy visits differed. TRIAL REGISTRATION: ISRCTN29932826.

Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 5. Speech outcomes in 5-year-olds - consonant proficiency and errors.

BACKGROUND AND AIM: Normal articulation before school start is a main objective in cleft palate treatment. The aim was to investigate if differences exist in consonant proficiency at age 5 years between children with unilateral cleft lip and palate (UCLP) randomised to different surgical protocols for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy. DESIGN: Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Norway, Sweden, and the UK. METHODS: Three different surgical protocols for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with non-syndromic UCLP. Speech audio- and video-recordings of 391 children (136 girls and 255 boys) were available and transcribed phonetically. The main outcome measure was Percent Consonants Correct (PCC) from blinded assessments. RESULTS: In Trial 1, arm A showed statistically significant higher PCC scores (82%) than arm B (78%) (p = .045). No significant differences were found between prevalences in Trial 2, A: 79%, C: 82%; or Trial 3, A: 80%, D: 85%. Across all trials, girls achieved better PCC scores, excluding s-errors, than boys (91.0% and 87.5%, respectively) (p = .01). CONCLUSIONS: PCC scores were higher in arm A than B in Trial 1, whereas no differences were found between arms in Trials 2 or 3. The burden of care in terms of secondary pharyngeal surgeries, number of fistulae, and speech therapy visits differed. TRIAL REGISTRATION: ISRCTN29932826.

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features.

OBJECTIVE: To review the clinical and molecular-genetic characteristics of 34 children who were referred to the clinical genetics department with a presenting diagnosis of definite or suspected velopharyngeal insufficiency (VPI, defined as the inability to close off the nasal from the oral cavity during speech) or hyponasal/hypernasal speech. All the patients referred also had additional anomalies and did not therefore comprise the whole VPI population. METHODS: Patients were clinically investigated by a clinical geneticist. Fluorescent in situ hybridisation for chromosome 22q11 deletion and/or array comparative genomic hybridisation (array CGH) analysis was performed in all cases. A literature review was performed using the Pubmed online database. RESULTS: Microdeletions or microduplications were identified in half of the patients. Six patients (∼18% of total) carried a chromosome 22q11 microdeletion, one patient had a chromosome 22q11 microduplication, and four patients had microdeletions in other chromosomes that were considered likely to be associated with the phenotype. One patient had KBG syndrome. Thus, an underlying genetic abnormality was found in approximately one-third (35%) of our patients. An additional seven patients harboured copy number variations that were considered benign or of unknown significance. CONCLUSIONS: We present an overview of patients with VPI or hyponasal/hypernasal speech with additional anomalies and their clinical and genetic findings. In one-third of these patients, an underlying genetic abnormality was identified. This has important implications for family counselling and medical follow-up. Furthermore, we recommend array CGH testing in all patients with VPI and associated anomalies because of the high percentage of copy number variants identified in these patients.