Genetics of cleft lip and palate revisited

Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects, with treatment including multiple surgeries, speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs.Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated. The candidate gene list for CL/P is getting longer and the need for an impartial, systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question "Can this complex trait be too complex?"The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.

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Perceptual Speech Outcomes After Early Primary Palatal Repair in Ugandan Patients With Cleft Palate

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665620980249 ◽

2020 ◽

pp. 105566562098024

Author(s):

Kim Bettens ◽

Laura Bruneel ◽

Cassandra Alighieri ◽

Daniel Sseremba ◽

Duncan Musasizib ◽

...

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Control Group ◽

English Speaking ◽

And Gender ◽

Early Primary ◽

Velopharyngeal Function ◽

Normal Speech

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.

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Management of Speech and Swallowing Disorders in Children with Oral Clefts

10.2310/ps.10027 ◽

2019 ◽

Author(s):

Ravi K. Garg ◽

Delora L Mount

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Treatment Options ◽

Posterior Pharyngeal Wall ◽

Diagnostic Tools ◽

Pharyngeal Wall ◽

Pharyngeal Flap ◽

Sphincter Pharyngoplasty

Cleft lip and palate are common congenital anomalies with significant implications for feeding, swallowing, and speech. If a cleft palate goes unrepaired, a child will have difficulty distinguishing nasal and oral sounds. Even following cleft palate repair, approximately 20 to 30% of nonsyndromic children have persistent hypernasal speech. This often occurs due to velopharyngeal dysfunction (VPD), a term describing failure of the soft palate and pharyngeal walls to seal the nasopharynx from the oropharynx during oral consonant production. The gold standard for diagnosis is perceptual examination by a trained speech pathologist, although additional diagnostic tools such as nasendoscopy are often used. Treatment options for VPD range from speech therapy to revision palatoplasty, sphincter pharyngoplasty, pharyngeal flap, and pharyngeal wall augmentation. Palatal prosthetics may also be considered for children who are not surgical candidates. Further research is needed to improve selection of diagnostic and treatment interventions and optimize speech outcomes for children with a history of oral cleft. This review contains 1 figure, 3 videos, and 58 references. Key words: Cleft lip and palate, hypernasal resonance, levator veli palatine, nasal emission, nasendoscopy, palatoplasty, pharyngeal flap, posterior pharyngeal wall augmentation, sphincter pharyngoplasty, velopharyngeal dysfunction

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Speech Intelligibility of Patients with Cleft Lip and Palate after Placement of Speech Prosthesis

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-061.1 ◽

2007 ◽

Vol 44 (6) ◽

pp. 635-641 ◽

Cited By ~ 29

Author(s):

João Henrique Nogueira Pinto ◽

Giseleda Silva Dalben ◽

Maria Inês Pegoraro-Krook

Keyword(s):

Cleft Palate ◽

Speech Intelligibility ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Velopharyngeal Insufficiency ◽

Cross Sectional ◽

Before And After ◽

Dental Needs

Objective: To evaluate the speech intelligibility of patients with clefts before and after placement of a speech prosthesis. Design: Cross-sectional. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, Brazil. Patients: Twenty-seven patients with unoperated cleft palate or operated cleft palate presenting with velopharyngeal insufficiency (VPI) after primary palatoplasty, treated with speech prosthesis, aged 8 to 63 years. Interventions: Patients were fitted with palatopharyngeal obturators or pharyngeal bulbs, suitable to their dental needs. Five speech-language pathologists blindly evaluated speech samples of the patients with and without the prosthesis. Main Outcome Measures: Classification of speech samples according to a scoring system developed for speech intelligibility problems: 1 (normal), 2 (mild), 3 (mild to moderate), 4 (moderate), 5 (moderate to severe), and 6 (severe). Results were evaluated by the calculation of means of all judges for each patient in both situations. Results: The judges presented significant agreement (W = .789, p < .01). Speech intelligibility was significantly better after placement of the prosthesis for both unoperated patients (Z = 1.93, p = .02) and operated patients with VPI after primary palatoplasty (Z = 1.78, p = .03). Conclusions: Speech intelligibility may be improved by rehabilitation of patients with cleft palate using a speech prosthesis. Speech therapy is needed to eliminate any compensatory articulation productions developed prior to prosthetic management.

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Visual Training and Correction of Articulation Disorders by Use of Dynamic Palatography

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.5103.226 ◽

1986 ◽

Vol 51 (3) ◽

pp. 226-238 ◽

Cited By ~ 39

Author(s):

Ken-Ichi Michi ◽

Noriko Suzuki ◽

Yukari Yamashita ◽

Satoko Imai

Keyword(s):

Cleft Palate ◽

Hard Palate ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Treatment Plan ◽

Visual Display ◽

Palatal Plate ◽

Articulation Disorders ◽

Visual Indication

The dynamic palatograph is an electrical apparatus that generates a visual display of constantly changing palatolingual contact as a function of time, using an artificial palatal plate with affixed electrodes. This paper describes a technique of speech therapy incorporating dynamic palatography for a cleft palate patient. The patient, a 6-year-old Japanese girl with a repaired unilateral cleft lip and palate, had been judged to demonstrate articulation disorders involving contact of the tongue with the hard palate or alveolus following surgical improvement of velopharyngeal function. Prior to therapy the tongue tended to contact the hard palate more posteriorly than normal. After therapy with the dynamic palatograph, palatolingual contact was normal in comparison with average speakers. Our findings suggest that the facility of constant visual indication of tongue posture to the clinician and patient during corrective speech therapy using dynamic palatography may expedite results with cleft palate patients in the speech clinic when implemented in a carefully structured treatment plan.

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Scandcleft Project Trial 2—Comparison of Speech Outcome in 1- and 2-Stage Palatal Closure in 5-Year-Olds With UCLP

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665619888316 ◽

2019 ◽

Vol 57 (4) ◽

pp. 458-469

Author(s):

Inger Lundeborg Hammarström ◽

Jill Nyberg ◽

Suvi Alaluusua ◽

Jorma Rautio ◽

Erik Neovius ◽

...

Keyword(s):

Cleft Palate ◽

Hard Palate ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Burden Of Treatment ◽

Hearing Thresholds ◽

Significant Difference ◽

Age Appropriate ◽

Velopharyngeal Function

Objective: To investigate in-depth speech results in the Scandcleft Trial 2 with comparisons between surgical protocols and centers and with benchmarks from peers without cleft palate. Design: A prospective randomized clinical trial. Setting: Two Swedish and one Finnish Cleft Palate center. Participants: One hundred twelve participants were 5-years-old born with unilateral cleft lip and palate randomized to either lip repair and soft palate closure at 4 months and hard palate closure at 12 months or lip repair at 3 to 4 months (Arm A), or a closure of both the soft and hard palate at 12 months (Arm C). Main Outcome Measures: A composite measure dichotomized into velopharyngeal competency (VPC) or velopharyngeal incompetency (VPI), overall assessment of velopharyngeal function (VPC-Rate), percentage of consonants correct (PCC score), and consonant errors. In addition, number of speech therapy visits, average hearing thresholds, and secondary surgeries were documented to assess burden of treatment. Results: Across the trial, 53.5% demonstrated VPC and 46.5% VPI with no significant differences between arms or centers. In total, 27% reached age-appropriate PCC scores with no statistically significant difference between the arms. The Finnish center had significantly higher PCC scores, the Swedish centers had higher percentages of oral consonant errors. Number of speech therapy visits was significantly higher in the Finnish center. Conclusion: At age 5, poor speech outcomes with some differences between participating centers were seen but could not be attributed to surgical protocol. As one center had very few participants, the results from that center should be interpreted with caution.

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Clinical Outcomes of Primary Palatal Surgery in Children with Nonsyndromic Cleft Palate with and without Lip

BioMed Research International ◽

10.1155/2015/185459 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 12

Author(s):

Seunghee Ha ◽

Kyung S. Koh ◽

Heewon Moon ◽

Seungeun Jung ◽

Tae Suk Oh

Keyword(s):

Cleft Palate ◽

Clinical Outcomes ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Medical Center ◽

Velopharyngeal Insufficiency ◽

Oronasal Fistula ◽

Clinical Records ◽

Palatal Surgery

This study presents clinical outcomes of primary cleft palate surgery, including rate of oronasal fistula development, rate of velopharyngeal insufficiency (VPI) requiring secondary surgery, and speech outcomes. We examined the effect of cleft type on the clinical outcomes. Retrospective analysis was performed using clinical records of all patients who received a primary palatoplasty at the Cleft Palate Clinic at Seoul Asan Medical Center, South Korea, between 2007 and 2012. The study included 292 patients with nonsyndromic overt cleft palate (±cleft lip). The results revealed that the rate of oronasal fistula was 7.9% and the incidence of VPI based on the rate of secondary palatal surgery was 19.2%. The results showed that 50.3% of all the patients had received speech therapy and 28.8% and 51.4% demonstrated significant hypernasality and articulatory deficits, respectively. The results of the rate of VPI and speech outcomes were significantly different in terms of cleft type. Except for the rate of oronasal fistula, patients with cleft palate generally exhibited better clinical outcomes compared to those with bilateral or unilateral cleft lip and palate. This study suggests that several factors, including cleft type, should be identified and comprehensively considered to establish an optimal treatment regimen for patients with cleft palate.

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Speech in a consecutive series of children born with cleft lip and palate with and without syndromes and/or additional malformations

BMC Pediatrics ◽

10.1186/s12887-021-02783-0 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Kristina Klintö ◽

Maria Sporre ◽

Magnus Becker

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Consecutive Series ◽

Total Group ◽

One Stage ◽

Audio Recordings ◽

Bilateral Cleft Lip ◽

Palatal Surgery ◽

Group Comparisons

Abstract Background When evaluating speech in children with cleft palate with or without cleft lip (CP/L), children with known syndromes and/or additional malformations (CP/L+) are usually excluded. The aim of this study was to present speech outcome of a consecutive series of 5-year-olds born with CP/L, and to compare speech results of children with CP/L + and children with CP/L without known syndromes and/or additional malformations (CP/L-). Methods One hundred 5-year-olds (20 with CP/L+; 80 with CP/L-) participated. All children were treated with primary palatal surgery in one stage with the same procedure for muscle reconstruction. Three independent judges performed phonetic transcriptions and rated perceived velopharyngeal competence from audio recordings. Based on phonetic transcriptions, percent consonants correct (PCC) and percent non-oral errors were investigated. Group comparisons were performed. Results In the total group, mean PCC was 88.2 and mean percent non-oral errors 1.5. The group with bilateral cleft lip and palate (BCLP) had poorer results on both measures compared to groups with other cleft types. The average results of PCC and percent non-oral errors in the CP/L + group indicated somewhat poorer speech, but no significant differences were observed. In the CP/L + group, 25 % were judged as having incompetent velopharyngeal competence, compared to 15 % in the CP/L- group. Conclusions The results indicated relatively good speech compared to speech of children with CP/L in previous studies. Speech was poorer in many children with more extensive clefts. No significant differences in speech outcomes were observed between CP/L + and CP/L- groups.

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Solitary, non-syndromic cleft lip and/or palate A comparison between cleft lip, cleft lip and palate, and cleft palate on epidemiologic characteristics and growth

American Journal of Orthodontics and Dentofacial Orthopedics ◽

10.1016/0889-5406(89)90123-6 ◽

1989 ◽

Vol 96 (6) ◽

pp. 527

Author(s):

Alex Jacobson

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Epidemiologic Characteristics

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Repair of Recurrent Cleft Palate with Free Vastus Lateralis Muscle Flap

The Cleft Palate-Craniofacial Journal ◽

10.1597/11-008 ◽

2012 ◽

Vol 49 (2) ◽

pp. 245-248 ◽

Cited By ~ 9

Author(s):

Jose G. Christiano ◽

Amir H. Dorafshar ◽

Eduardo D. Rodriguez ◽

Richard J. Redett

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Vastus Lateralis ◽

Muscle Flap ◽

Free Flaps ◽

Vastus Lateralis Muscle ◽

Oronasal Fistula ◽

Lateralis Muscle ◽

Palate Repair

A 6-year-old girl presented with a large recalcitrant oronasal fistula after bilateral cleft lip and palate repair and numerous secondary attempts at fistula closure. Incomplete palmar arches precluded a free radial forearm flap. A free vastus lateralis muscle flap was successfully transferred. No fistula recurrence was observed at 18 months. There was no perceived thigh weakness. The surgical scar healed inconspicuously. Free flaps should no longer be considered the last resort for treatment of recalcitrant fistulas after cleft palate repair. A free vastus lateralis muscle flap is an excellent alternative, and possibly a superior option, to other previously described free flaps.

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