The Cleft Palate Craniofacial Journal

To investigate the relationship between auditory-perceptual ratings of resonance and nasometry scores in children with cleft palate. Factors which may impact this relationship were examined including articulation, intelligibility, dysphonia, sex, and cleft-related diagnosis.

Retrospective, observational cohort study

Outpatient pediatric cranio-facial anomalies clinic

Four hundred patients <18 years of age identified with CP ± L, seen for auditory-perceptual and nasometry evaluations of hypernasality as well as assessments of articulation and voice.

Relationship between auditory-perceptual ratings of resonance and nasometry scores

Pearson's correlations indicated that auditory-perceptual resonance ratings and nasometry scores were significantly correlated across oral-sound stimuli on the picture-cued portion of the MacKay-Kummer SNAP-R Test (r values .69 to.72) and the zoo reading passage (r = .72). Linear regression indicated that intelligibility (p ≤ .001) and dysphonia (p = .009) significantly impacted the relationship between perceptual and objective assessments of resonance on the Zoo passage. Moderation analyses indicated that the relationship between auditory-perceptual and nasometry values weakened as severity of speech intelligibility increased (P < .001) and when children presented with moderate dysphonia (p ≤ .001). No significant impact of articulation testing or sex were observed.

Speech intelligibility and dysphonia alter the relationship between auditory-perceptual and nasometry assessments of hypernasality in children with cleft palate. SLPs should be aware of potential sources of auditory-perceptual bias and shortcomings of the Nasometer when following patients with limited intelligibility or moderate dysphonia. Future study may identify the mechanisms by which intelligibility and dysphonia affect auditory-perceptual and nasometry evaluations.

Accurate nationwide epidemiological evidence is vital to study the seasonal, geographic, and ethnic influence on the trends of orofacial cleft prevalence in Kuwait.

Data obtained from the National Center for Health Information and Ministry of Health Hospital digital records were reviewed retrospectively to identify patients with orofacial clefts (OFC) using the ICD-10 diagnostic codes. The Jonckheere-Terpstra test was used to assess the trend of birth prevalence across the different years. The associations of types of OFC with ethnic and geographic influences were tested with chi-square or Fisher's exact tests, while the strength of that association was tested with multi-nominal logistic regression.

Birth prevalence in Kuwait ranged from 0.75–2.55 per 1000 live births (0.73- 2.73 among Kuwaitis, 0.60–3.27 among non-Kuwaitis), with no statistically significant change observed during the past 28 years. The risk of unilateral cleft lip and palate was eight times higher during summer compared to Autumn, while the risk of cleft lip and palate remained lower during winter. Jahra (OR-7.76, CI- 1.51–39.80), Farwaneya (OR-6.65, CI- 1.34–33.06), and Hawalli (OR-6.72, CI- 1.26–35.98) governorates had higher odds of bilateral cleft lip when compared to Mubarak Alkabeer.

The study outcome is an indicator to improve patient care and customize healthcare infrastructure in the Ministry of Health. It also provides insight to develop projections of future needs. Future studies should focus on understanding the factors that might be a potential contributor to the seasonal change observed in the prevalence of OFC.

To investigate condylar bone density (BD) in children with craniofacial microsomia (CFM) and identify factors that contribute to early stage condylar resorption (CR) after mandibular distraction osteogenesis (MDO).

Retrospective study.

Craniofacial department of a plastic surgery hospital.

Fifty-one children with CFM classified as Pruzansky IIa based on complete pre-(T0) and post-MDO (T1) computed tomography (CT) data.

Mimic 21.0 (Materialise Inc., Belgium) was used to measure bilateral BD and condylar height (CH) and volume (CV) of affected side. Children were split into groups based on either affected side BD or the distraction length (DL,25 mm as cutoff) .Bilateral BD was compared using a paired t-test in each group. The CH and CV of affected side at T0 and T1 were compared. The relative values of the CH and CV (CH ratio) and the volume (CV ratio) of the affected side were compared across the groups.

The BD was lower on affected side than on unaffected side. Regarding BD, CH and CV decreased after MDO in group I, while the CH ratio and CV ratio of group I was lower than that of groups II and III. Regarding DL, the CV ratio was lower in Group L than Group S.

The condylar bone quality on affected side is compromised in type IIa CFM. A low BD in combination with a larger distraction distance may increase the risk of CR; therefore, MDO in patients with such characteristics should be postponed.

Paired box 7 (PAX7) has been considered as a candidate gene for non-syndromic cleft lip with or without palate (NSCL/P). However, there is no research for the XXX, and previous studies concentrated on limited variants. This study aimed to conduct sufficiently dense and powerful scans of variants at PAX7 and explored the roles of variants at PAX7 in NSCL/P among the XXX.

Targeted region sequencing was performed to thoroughly screen variations, followed by a two-phase association analysis. 159 NSCL/P cases and 542 controls were analyzed in phase 1. Then in phase 2, the validation study was performed using 1626 cases and 2255 controls. We also explored the roles of variants at PAX7 gene in NSCL/P subtypes. Additionally, indirect associations were found by calculating LD and haplotypes.

The study was conducted in XXX.

159 NSCL/P cases and 542 controls were analyzed in phase 1. Then in phase 2, the validation study was performed using 1626 cases and 2255 controls.

Blood samples were collected.

To explore the association analysis between variants at PAX7 and NSCL/P in XXX.

The results showed that rs2236810, rs114882979 and rs2236804 were significantly associated with NSCL/P, which were predicted to have regulatory functions. Besides, variants at PAX7 function differently in the NSCL/P subtypes. We also discovered a PAX7 missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T).

In summary, we confirmed 3 SNPs at PAX7 were significantly associated with NSCL/P in XXX and identified a missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T).

To assess modelled facial development of infants with unilateral cleft lip (CL) and cleft lip and palate (UCLP) compared to controls up to two years of age.

A total of 209 facial images of children (CL: n = 37; UCLP: n = 39; controls: n = 137) were obtained in four age categories (T0 = 0.2–0.5; T1 = 0.6–1.0; T2 = 1.1–1.5; T3 = 1.6–2.0 years) and were evaluated using stereophotogrammetry and geometric morphometry. All patients underwent lip surgery before T0, patients with UCLP underwent palatoplasty (T0, T1 before palatoplasty; T2, T3 after palatoplasty).

In patients with CL, the forehead was significantly retracted (p ≤ 0.001), while the supraorbital and ocular regions were prominent (p ≤ 0.001). The oronasal region appeared convex (p ≤ 0.001). The lower lip and chin were non-significantly protruded. In patients with UCLP, a significantly retracted forehead and prominent supraorbital region were apparent (p ≤ 0.001). A retrusive oronasal region (p ≤ 0.001) was observed in the middle face. The chin was anteriorly protruded (p ≤ 0.01). No progression of deviations was found with increasing age. After the first year, a slight improvement in the morphological features became apparent. The shape variability of the clefts and controls overlapped, suggesting a comparable modelled facial development.

The facial morphology of individuals with cleft was comparable to the norm. Shape deviation was apparent in the oronasal region, forehead, and chin, which minimised with increasing age even in complete clefts.

To determine the prevalence of treatment of early childhood caries (ECC) using general anesthesia (GA) in children with cleft lip and/or palate (CL/P).

Retrospective chart review of children followed by the Manitoba Cleft Lip and Palate Program (MCLPP) to determine the frequency of treatment for ECC under GA.

Children's Hospital, Winnipeg, Canada (a tertiary care centre).

Children registered with MCLPP between January 1, 2008- December 31, 2019.

The chart review collected data on the following variables: sex, date of birth, postal code, type of cleft, whether child had treatment of ECC using GA, age at the time of GA, and cost of treatment.

Association of CL/P with ECC.

Overall, 441 children had CL/P. 17% had isolated cleft lip (CL), 46% had isolated cleft palate (CP), and 37% had both cleft lip and palate (CLP). Overall, 24.3% of children with CL/P underwent dental surgery using GA while 14.5% underwent dental surgery to treat ECC between 12-59 months of age. When compared to a reference of Canadian healthy children 12-59 months of age, a child with CL/P was 15 times more likely to require GA to treat ECC.

Treatment for caries under GA in children with CL/P is common. In the children with CL/P the rates of GA for treatment of ECC are significantly higher when compared to the general population. Children with CL/P require comprehensive oral health prevention to reduce the risk for caries and the need for treatment under GA.

Posterior cranial distraction (PCD) is a surgical technique to address craniosynostosis, especially in syndromic patients. The technique has the ability to significantly expand the cranium, while requiring minimal dural dissection, compared to cranial remodeling. Our goals were to determine the patient characteristics and surgical outcomes of PCD. The two questions that we sought to answer were: 1) What is the average published complication rate and the most common complications of PCD? and 2) How much intracranial volume expansion can one expect with PCD?

A PubMed database search of articles on PCD was performed. Case reports and articles with overlapping patients were excluded. A systematic review was performed using the remaining articles.

Patient data were extracted in order to determine the total number of patients, patients with a syndrome, types of syndromes, mean age at surgery, mean distraction distance, mean increase in intracranial volume, and complications.

18 articles representing 325 patients were analyzed. A syndrome was present in 68.6% of patients. The mean age at time of surgery was 22.1 months. Mean distraction amount was 24.7 mm. Mean increase in intracranial volume was 253.2 cm³. The overall complication rate was 32.2%, with the most common complications being surgical-site infection, hardware-related complications and delayed wound healing.

PCD is a powerful technique in the management of syndromic craniosynostosis, although complication rates are significantly higher than traditional remodeling techniques. Future studies should compare the effects of supratorcular and infratorcular osteotomies on intracranial volume, cosmesis and complications.

This study used three-dimensional measurements to provide a nasolabial analysis of patients with unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP), and controls across different races and ethnicities.

A retrospective comparative study.

Tertiary care pediatric institution.

The study included 90 patients with UCLP, 43 patients with BCLP, and 90 matched controls. Patients are separated as self-identified Caucasian, Hispanic, or African American.

Nasal length, nasal protrusion, columellar height, columellar width, tip width, alar width, alar base width, nasolabial angle, upper lip length, philtrum length, nostril height, and nostril width.

All UCLP groups had significantly greater columella and tip widths and decreased nasolabial angles than controls. All BCLP groups had significantly greater columella width, tip width, nasolabial angle, and nostril widths. Upper lip length, philtrum length, and nostril height were significantly decreased in BCLP compared to controls. Across UCLP groups, African Americans had significantly decreased nasal protrusion and columella height and a significantly increased columella width compared to Caucasians and Hispanics. Alar and alar base widths were significantly different between all groups. Across BCLP groups, the Caucasian nostril width was significantly less than the African Americans.

These findings suggest that when correcting nasolabial characteristics in patients with cleft lip, it is important to consider racial and ethnic differences to achieve a normal appearance. Specifically, goals for alar width, alar base width, nasal tip, and projection should be tailored to the patient's race and ethnicity.

The purpose of this study is to assess cleft rhinoplasty terminology across phases of growth.

A systematic review was performed on cleft rhinoplasty publications over 20 years.

Studies were categorized by age at surgical intervention: infant (<1 year); immature (1 to 14 years); mature (>15 years).

Collected data included terminology used and surgical techniques.

The 288 studies included demonstrated a wide range of terminology. In the infant group, 51/54 studies used the term “primary.” In the immature group, 7/18 studies used the term “primary,” 3/18 used “secondary.” In the mature group, 2/33 studies used the term “primary,” 16/33 used “secondary,” 2/33 used “definitive,” 5/33 used terms such as “mature,” “adult,” and “late,” and 8/33 did not use terminology.

cleft rhinoplasty at infancy used nostril rim or no nasal incision, immature rhinoplasty used closed and open rhinoplasty incisions; and mature rhinoplasty used a majority of open rhinoplasty. Infant and immature cleft rhinoplasty incorporated septal harvest or spur removal in <10% of cases, whereas these procedures were common in mature rhinoplasty. No studies in infants or immature patients used osteotomies or septal grafts, common techniques in mature rhinoplasty.

Current terminology for cleft rhinoplasty is varied and inconsistently applied across stages of facial development. However, cleft rhinoplasty performed at infancy, childhood, and facial maturity are surgically distinct procedures. The authors recommend the terminology “infant,” “immature,” and “mature” cleft rhinoplasty to accurately describe this procedure within the context of skeletal growth.

Alar asymmetry in unilateral cleft lip (UCL) nasal deformity is a well-recognized clinical feature. However, there is a lack of comprehensive quantitative analysis of this asymmetry. This study compares the shape, volume, and axis rotation between the cleft and non-cleft ala in skeletally mature patients with UCL.

A retrospective comparative study utilizing three-dimensional rendered CT scans.

Tertiary care pediatric institution.

This study included 18 patients with UCL nasal deformity at skeletal maturity.

Cleft and non-cleft side ala volume, surface area, and axis to the midsagittal plane.

The cleft-side ala was significantly lesser in volume by 27.3%, significantly lesser in surface area by 17.6%, and significantly greater in surface area to volume ratio by 14.6% than the non-cleft ala. The cleft-side ala was significantly greater by 43.1% horizontal axis to the midsagittal plane. In patients with primary rhinoplasty, the cleft-side ala had 28.0% less volume and 18.7% less surface area. In intermediate rhinoplasty, the cleft-side ala had 39.1% less volume and 23.5% less surface area than the non-cleft ala.

Significant asymmetry exists between the cleft-side and non-cleft ala in patients with UCL. The cleft-side ala is significantly smaller in volume and surface area than the non-cleft ala. Additionally, the cleft-side ala demonstrates a significantly greater horizontal axis that contributes considerably to nasal asymmetry, supporting the need to restore a normal vertical axis to the clef-side ala.

The objectives of this study were to assess the oral health status and parental perception of oral health needs of pediatric patients in an urban Craniofacial Center.

This research utilized a prospective cross-sectional matched study design. The data was collected prospectively via clinical oral examinations measuring dental caries experience and gingival health status. Parental perception of oral health was assessed through a validated questionnaire.

The study was conducted at a Pediatric Dentistry Department and Craniofacial Center (CFC) in a large urban American city.

Participants were recruited and enrolled from a CFC and Pediatric Dental Clinic.

The outcome measures were the oral health status and parental perception thereof.

CFC patients’ caries experience in primary teeth was significantly lower than that of a healthy matched cohort, but statistically similar in permanent teeth. CFC patients had significantly higher unmet dental treatment needs. CFC patients had poor oral hygiene and were shown to have significantly higher plaque levels and worse gingival health than that of a healthy matched cohort. Parental perception of oral health did not show a statistically significantly difference between the two groups.

Patients in our study in an urban CFC were found to have a high unmet dental and poor oral hygiene. Despite the poor oral health status, parents of children with craniofacial anomalies did perceive their oral health as different from a matched cohort of patients without these conditions.

To evaluate the role of psychosocial well-being on perioperative pain and opioid use among patients with cleft lip and palate (CLP) undergoing alveolar bone grafting (ABG).

Retrospective review.

Tertiary level craniofacial clinic.

34 patients with CLP (median age: 11.7 years), including 25 (73.5%) unilateral CLP and 9 (26.5%) bilateral CLP, who underwent ABG from 2015 to 2022.

ABG using iliac crest bone graft. Patients were prospectively administered four patient-reported psychosocial instruments from the Patient-Reported Outcomes Measurement Information System.

Perioperative opioid use in morphine equivalent dosage/kilogram, patient-reported pain scores, and length of hospital stay after ABG.

Patient-reported anxiety (r = 0.41, p = 0.02) and depressive symptoms (r = 0.35, p = 0.04) correlated to higher perioperative opioid usage. Multivariable regression models including psychosocial scores, total acetaminophen usage, length of surgery, and other simultaneous surgeries were developed for total opioid usage, patient-reported pain, and length of hospital stay. Patient-reported anxiety was independently predictive of higher perioperative opioid use (β=0.36, p = 0.01) and higher pain scores (β=0.39, p = 0.02), but not length of hospital stay.

We identified an association for patient-reported anxiety and perioperative opioid use and pain in a CLP cohort undergoing ABG. Future considerations in preoperative patient and family consultation may be indicated in patients self-reporting higher anxiety in an effort to minimize perioperative opioid usage.

To evaluate the association between cleft lip and/or cleft palate (CL/P) and breastfeeding (BF).

A systematic review and meta-analysis were performed based on studies published in PubMed, Scopus, Web of Science, Cochrane Library, LILACS, BBO, and Embase databases, and in the gray literature. The search occurred in September 2021 and was updated in March 2022. Observational studies evaluating the association between BF and CL/P were included. Risk of bias was analyzed using the Newcastle-Ottawa Scale. A random-effects meta-analysis was conducted. Certainty of evidence was evaluated using the GRADE approach.

Frequency of BF in relation to the presence or absence of CL/P, as well as to the type of CL/P. The association between cleft type and BF challenges was also evaluated.

From a total of 6863 studies identified, 29 were included in the qualitative review. Risk of bias was moderate and high in most studies (n = 26). There was a significant association between the presence of CL/P and absence of BF (OR = 18.08; 95% CI 7.09–46.09). Individuals with cleft palate with or without cleft lip (CP ± L) had a significantly lower frequency of BF (OR = 5.93; 95% CI 4.30–8.16) and a significantly higher frequency of BF challenges (OR = 13.55; 95% CI 4.91–37.43) compared to individuals with CL. Certainty of the evidence was low or very low in all analyses.

The presence of clefts, especially those with palate involvement, is associated with higher chances of absence of BF.

Measuring disability as a concept of impaired global function enables beneficiaries of treatment, the impact of treatment, and targets of health system investment to be rigorously assessed. Measures of disability are not well established for cleft lip and palate. This study aims to systematically review disability weight (DW) studies pertaining to orofacial clefts (OFCs) and identify methodological strengths and shortcomings of each approach.

Systematic literature review of studies that met the following criteria: (1) peer-reviewed publication, (2) focus on disability valuation, (3) mention orofacial clefts, and (4) publication January 2001-December 2021.

None.

None.

None.

Disability weight method of valuation and the value itself.

The final search strategy yielded 1,067 studies. Seven manuscripts were ultimately included for data extraction. The disability weights used in our studies, including those newly generated or taken from the Global Burden of Disease Studies (GBD), ranged widely for isolated cleft lip (0.0–0.100) and cleft palate with or without cleft lip (0.0−0.269). The GBD studies limited their consideration of cleft sequelae informing disability weights to impact on appearance and speech-related concerns, while other studies accounted for comorbidities such as pain and social stigma.

Current measures of cleft disability are sparse, inadequately reflect the comprehensive impact of an OFC on function and socialization, and are limited in detail or supporting evidence. Use of a comprehensive health state description in evaluating disability weights offers a realistic means of accurately representing the diverse sequelae of an OFC.

To document the impact of early follow-up by specialized cleft nurses (SCNs) to families of infants with cleft lip and/or cleft palate (CL/P).

Prospective inclusion of a control group, which received standard care alone, followed by an intervention group, which in addition received early SCN follow-up.

The cleft lip and palate team at a University hospital.

70 families (69 mothers and 57 fathers); control group (n = 38); intervention group (n = 32).

SCNs offered a consultation at the maternity ward and follow-ups by phone or face-to-face at one, three, eight weeks and six months after birth.

Use of Internet-Questionnaire, Quality of discharge teaching scale (QDTS), Post discharge coping difficulty scale (PDCDS), Response on follow-up by health professionals.

Infants in the intervention group were admitted less frequently to a Neonatal Intensive Care unit (NICU); 21.9% vs 51.4%, P = .012. Parents in the intervention group used internet for cleft-related reasons less frequently (74.6% vs 85.9%), P = .112 and the mothers benefitted less from cleft-related activity on the internet (P = .013). The intervention group reported higher mean score for satisfaction with total cleft care (P = .001). There were no significant group differences regarding mean total score for discharge teaching (P = .315) and coping difficulties (P = .919).

Early follow-up by a SCN with expertise in cleft care is highly valued by parents. Closer cooperation between the cleft team and health professionals at birth hospitals and Child health centers is necessary for optimal follow-up.

Children born with Trisomy 13 or 18 (T13/18) often have multiple congenital anomalies, many of which drastically shorten their lifespan. Among these defects are cleft lip and palate, the repair of which presents an ethical dilemma to the surgeon given the underlying comorbidities associated with T13/18. The authors present an ethical discussion and institutional experience in navigating this dilemma.

The authors analyzed existing literature on T13 and T18 surgery and mortality. A retrospective study over ten years was also conducted to identify pediatric patients who underwent surgical correction of cleft lip and/or palate secondary to a confirmed diagnosis of T13/18. The authors identified two patients and examined their treatment course.

The authors’ review of literature coupled with their institution's experience builds on the published successes of correcting cleft lip and palate in the setting of T13/18. It was found that both patients identified in the case series underwent successful correction with no surgical complications.

A careful balance must be struck between improved quality of life, benefits of treatment, and risks of surgery in children with T13/T18. Careful consideration should be given to the medical status of these complex patients. If the remaining medical comorbidities are well managed and under control, there is an ethical precedent for performing cleft lip and palate surgeries on these children. A diagnosis of T13/T18 alone is not enough to disqualify patients from cleft lip/palate surgery.

Develop a model for the study of Electronic Nicotine Device (ENDS) exposure on craniofacial development.

Experimental preclinical design followed as pregnant murine dams were randomized and exposed to filtered air exposure, carrier exposure consisting of 50% volume of propylene glycol and vegetable glycine (ENDS Carrier) respectively, or carrier exposure with 20 mg/ml of nicotine added to the liquid vaporizer (ENDS carrier with nicotine).

Preclinical murine model exposure using the SciReq exposure system.

C57BL6 adult 8 week old female pregnant mice and exposed in utero litters.

Exposure to control filtered air, ENDS carrier or ENDS carrier with nicotine added throughout gestation at 1 puff/minute, 4 h/day, five days a week.

Cephalometric measures of post-natal day 15 pups born as exposed litters.

Data suggests alterations to several facial morphology parameters in the developing offspring, suggesting electronic nicotine device systems may alter facial growth if used during pregnancy.

Future research should concentrate on varied formulations and exposure regimens of ENDS to determine timing windows of exposures and ENDS formulations that may be harmful to craniofacial development.

To identify characteristics of malpractice litigations involving skull deformity in infants (craniosynostosis and deformational plagiocephaly).

Retrospective review of all lawsuits with jury verdicts or settlements involving infant skull deformity as the primary diagnosis using the Westlaw Legal Database.

United States.

Plaintiffs with skull deformity as the primary diagnosis.

Litigation outcome and indemnity payment amount.

From 1990 to 2019, 9 cases involving infant skull deformity met our inclusion/exclusion criteria. Among these cases, 8 (88.9%) cases resulted in indemnity payments to plaintiffs, totaling $30,430,000. Failure to diagnose (n = 4, 44.4%) and surgical negligence (n = 3, 33.3%) were the most common reasons for litigations.

There were a small number of malpractice lawsuits involving infant skull deformity over three decades. When cases go to court, physicians and hospitals have a high likelihood of judgment against them, frequently resulting in high indemnity payments.

Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital syndrome consisting of the main features of micrognathia and posterior rib gaps. Due to multiple abnormalities, patients almost have difficulty breathing with upper airway obstruction, decreased thoracic capacity, spina bifida, and scoliosis.

We describe a case of a late preterm neonate boy presenting with low Apgar, respiratory distress, and complicated orofacial anomalies that had a poor outcome. His radiographic findings showed mandibular hypoplasia (micrognathia), chest deformity, multiple posterior rib gap defects, and abnormal costotransverse articulation. Based on physical examination and radiologic findings, the diagnosis of CCMS confirmed for the patient.

Physicians should always consider the diagnosis of CCMS in all infants with micrognathia and rib-gap defects. These infants need careful respiratory function monitoring. Early airway management improves growth and development. In addition, their physical and psychological development should be assessed regularly.