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The Journal of Pediatrics Aug 2023To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs).
OBJECTIVE
To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs).
METHODS
Data on livebirths (1983-2010; n = 721 019) including rare CFA (craniofacial microsomia, mandibulofacial dysostosis, Pierre Robin sequence, Van der Woude syndrome, and frontonasal dysplasia), episodes of death, and demographic and perinatal factors were identified from the Western Australian Register of Developmental Anomalies, Death Registrations and Midwives Notification System. Information on incident craniofacial and noncraniofacial related admissions, length of hospital stay, and intensive care and emergency-related admissions were identified using principal diagnosis and procedural codes were extracted from the Hospital Morbidity Data Collection and linked to other data sources. Associations of hospitalizations by age groups as well as demographic and perinatal factors were expressed as incidence rate ratio (IRR).
RESULTS
The incident hospitalizations were 3 times as high for rare CFA (IRR 3.22-3.72) throughout childhood into adolescence than those without. Children with rare CFA had 3-4 times as many potentially preventable hospitalizations until 18 years of age than those without. Specifically, respiratory infections (IRR 2.13-2.35), ear infections (IRR 7.92-26.28), and oral health-related conditions contributed for most noncraniofacial admissions until the adolescence period. A greater incidence of noncraniofacial related hospitalizations was observed among Indigenous children, births with intrauterine growth restrictions, and families with high socioeconomic disadvantage.
CONCLUSIONS
Throughout childhood, individuals with rare CFA had greater hospital service use, specifically for potentially preventable conditions, than those without. These population-level findings can inform new preventive strategies and early disease management targeted toward reducing preventable hospitalizations.
Topics: Child; Pregnancy; Female; Adolescent; Humans; Western Australia; Australia; Hospitalization; Length of Stay; Cleft Palate
PubMed: 37030611
DOI: 10.1016/j.jpeds.2023.113418 -
The Journal of Craniofacial Surgery Sep 2023Robin sequence is a congenital issue resulting in airway obstruction, difficulty feeding, and failure to thrive. Mandibular Distraction Osteogenesis is used to improve...
Robin sequence is a congenital issue resulting in airway obstruction, difficulty feeding, and failure to thrive. Mandibular Distraction Osteogenesis is used to improve airway obstruction in these patients, but little data exists characterizing feeding outcomes following surgery. This study aims to evaluate feeding outcomes and weight gain following mandibular distraction for airway correction in infants. A single-center retrospective chart review was conducted, and patients under 12 months old who underwent mandibular distraction between December 2015 and July 2021 were included in the study. The presence of cleft palate, distance of distraction, and polysomnography results were recorded. The primary outcomes were the length of distraction, need for nasogastric tube or G-tube at discharge, time lapsed to achieve full oral feeds, and weight gain (kilogram). Ten patients met the criteria. Of those 10 patients, 4 were syndromic, 7 had a cleft palate, and 4 had a congenital cardiac diagnosis. The average length of stay postsurgery was 28 days. Eight patients achieved full oral feeds in an average of 65.6 days. Five patients required nasogastric tube or G-tube at discharge, with 3 of these patients later transitioning to full oral feeds. All patients gained weight 3 months postsurgery with an average of 0.521 kg/mo. Patients who achieved full oral feeds gained an average of 0.549 kg/mo. Patients with supplementation gained an average of 0.454 kg/mo. All patients demonstrated improvement in airway obstruction with an average postoperative apnea hypopnea index of 1.64. Further investigation is necessary to identify challenges seen in feeding after mandibular distraction osteogenesis and improve care.
Topics: Humans; Infant; Retrospective Studies; Cleft Palate; Treatment Outcome; Mandible; Airway Obstruction; Osteogenesis, Distraction; Pierre Robin Syndrome; Weight Gain
PubMed: 37431904
DOI: 10.1097/SCS.0000000000009551 -
The Cleft Palate-craniofacial Journal :... Jan 2024To investigate the subjective risk for obstructive sleep apnea (OSA) in adolescents and young adults with isolated Robin sequence (IRS). Additionally, to investigate the... (Observational Study)
Observational Study
OBJECTIVE
To investigate the subjective risk for obstructive sleep apnea (OSA) in adolescents and young adults with isolated Robin sequence (IRS). Additionally, to investigate the association of OSA risk with respiratory signs/symptoms, and retrognathia.
DESIGN
Prospective, observational, and cross-sectional study.
SETTING
Tertiary reference hospital for the rehabilitation of craniofacial anomalies.
PARTICIPANTS
Adolescents and adults (n = 30) with IRS were clinically evaluated and screened through the Berlin Questionnaire (BQ) and Respiratory Symptoms Questionnaire. The maxillomandibular relationship was assessed on lateral cephalograms of those that reached skeletal maturity (n = 13). Polysomnography (PSG) was performed in a subgroup of 4 individuals.
RESULTS
The mean age of the sample was 18.2 (±3.4) years, 17 (56.7%) were adolescents (14-19 years), and 16 were (53.3%) female, all presented a repaired cleft palate.
CLINICAL PARAMETERS
Systemic arterial pressure (118.0 ± 4.1/76.3 ± 4.9 mmHg), body mass index (BMI) (20.9 ± 2.8 kg/m), neck (33.2 ± 2.3 cm), and waist circumferences (72.0 ± 5.8 cm) were within normal ranges. A skeletal class I pattern was observed in 61.5% of the participants while a class II was seen in 15.4% of them. A high risk for OSA was detected in 16.7%, and it was associated with nasal obstruction, snoring and drowsiness, and a skeletal class II pattern ( ≤ .05). One patient presented with mild OSA (apnea-hypopnea index [AHI] = 10.1 events/hour) at the PSG exam.
CONCLUSIONS
A high risk for OSA can be observed with a moderate frequency among adolescents and young adults with IRS, especially among those who are concurrently suffering from nasal obstruction, snoring and retrognathia.
Topics: Adolescent; Adult; Female; Humans; Male; Young Adult; Cross-Sectional Studies; Nasal Obstruction; Pierre Robin Syndrome; Prospective Studies; Retrognathia; Risk Factors; Sleep Apnea, Obstructive; Snoring
PubMed: 36443934
DOI: 10.1177/10556656221119078 -
The Journal of Craniofacial SurgeryLife-threatening airway obstruction is a major concern in patients with Pierre-Robin sequence. Tongue-lip adhesion (TLA) has been used to manage airway obstruction. The...
Life-threatening airway obstruction is a major concern in patients with Pierre-Robin sequence. Tongue-lip adhesion (TLA) has been used to manage airway obstruction. The authors present the case of a female neonate with Pierre-Robin sequence who presented with airway obstruction and a cleft palate. She underwent a TLA procedure with modified tongue base suspension (TBS). Endoscopy was used to check and control the traction of the tongue base to enable unobstructed self-ventilation. Positive outcomes including improved O2 saturation and weight gain were noted. The effectiveness of TLA was enhanced by using TBS with real-time endoscopy to evaluate the oropharyngeal airway space required to alleviate airway obstruction. The use of endoscopy enabled us to check and determine how much the tongue base should be tracted by manipulating the tongue anteriorly and posteriorly. The authors report transoral endoscopy-assisted TLA and modified TBS.
Topics: Infant, Newborn; Humans; Female; Pierre Robin Syndrome; Airway Obstruction; Larynx; Tongue; Endoscopy; Treatment Outcome
PubMed: 37603896
DOI: 10.1097/SCS.0000000000009672 -
The Cleft Palate-craniofacial Journal :... Feb 2024The objective was to evaluate the readability of easily accessible parent-directed information concerning Robin Sequence (RS) online, compared to the American Medical...
The objective was to evaluate the readability of easily accessible parent-directed information concerning Robin Sequence (RS) online, compared to the American Medical Association (AMA)-recommended sixth grade (age 11-12) readability level. A Google search of the term "Pierre Robin Sequence information" was performed. The first ten websites were evaluated using six commonly used readability formulas. Sample texts from three websites were 'translated' by the authors, with the aim of achieving a sixth grade readability level. The following outcomes were used: Automated Readability Index (ARI), Coleman Liau Index (CLI), Gunning Fog Score, Simple Measure of Gobbledygook (SMOG), Flesch Kincaid Grade Level (FKGL), and Flesch Reading Ease (FRE) score. The mean pooled grade level of the top 10 included websites was 12.1 (age 17-18). The overall FRE Index was 45.8, which is equivalent to a College-grade reading level. The mean grade level by each test used was: Flesch-Kincaid Grade Level 11.6 (age 16-17), Gunning Fog Score 13.3 (age 18+), SMOG 10.0 (age 14-15), Coleman-Liau Index 13.8 (age 18+), and ARI 12.0 (age 17-18). The author-translated resources achieved pooled mean grade levels of 6.3-6.5. Parent-directed online materials concerning RS have a readability in excess of the AMA-recommended sixth grade reading level. Even though the condition is complex, more readable resources are achievable. Coproduction of parent-directed resources in association with public an patient involvement (PPI) contributors is encouraged.
PubMed: 38373442
DOI: 10.1177/10556656241234587 -
The Cleft Palate-craniofacial Journal :... Feb 2024Stickler Syndrome (SS) is an inherited collagenopathy characterized by heterogenous orofacial, ocular, auditory, and skeletal abnormalities. The orofacial manifestations...
OBJECTIVE
Stickler Syndrome (SS) is an inherited collagenopathy characterized by heterogenous orofacial, ocular, auditory, and skeletal abnormalities. The orofacial manifestations are variable and some patients present with cleft palate and velopharyngeal insufficiency (VPI). The incidence of VPI in SS is poorly studied and no studies have compared the incidence of VPI between Type I (COL2A1) and Type II (COL11A1) SS. The objective of this study is to compare the incidence of VPI between SS subtypes and discuss the surgical techniques used to treat them.
DESIGN
Single-institution, retrospective chart review.
SETTING
Tertiary pediatric hospital.
PATIENTS/PARTICIPANTS
Forty-three children were diagnosed with SS between January 2003 and December 2018. Genetic testing results, genetics notes, craniofacial clinic notes, and operative reports were reviewed. Patients without genetic testing or craniofacial/otolaryngologic evaluation were excluded. Thirty-one patients met criteria and were included.
MAIN OUTCOME MEASURE
Primary outcome was VPI incidence.
RESULTS
There were 18 patients with Type I SS and 13 with Type II SS. Five (16%) patients had VPI, 2 (11%) with Type I SS compared to 3 (23%) with Type II SS ( > .05). All patients with VPI underwent surgery with either sphincter pharyngoplasty (3) or pharyngeal flap (2). Two patients with Type II SS underwent revision sphincter pharyngoplasty, with one conversion to pharyngeal flap.
CONCLUSION
VPI is common for patients with SS. In this study, there was no significant difference in the incidence of VPI between SS subtypes. Future studies are needed to confirm these findings, which could be important for patient counseling and treatment planning.
Topics: Child; Humans; Velopharyngeal Insufficiency; Incidence; Retrospective Studies; Treatment Outcome; Surgical Flaps; Pharynx; Cleft Palate
PubMed: 36443936
DOI: 10.1177/10556656221140675 -
The Journal of Craniofacial Surgery May 2024To investigate the growth patterns of the maxillomandibular complex in preadolescent patients with Pierre-Robin sequence (PRS).
Growth Patterns of the Maxillomandibular Complex in Preadolescent Patients With Pierre-Robin Sequence Using Cluster Analysis and Longitudinal Follow-Up Cephalometric Data.
OBJECTIVE
To investigate the growth patterns of the maxillomandibular complex in preadolescent patients with Pierre-Robin sequence (PRS).
METHODS
The samples consisted of 20 preadolescent PRS patients who had cleft palate and did not undergo growth-modification therapy or surgical intervention [6 boys and 14 girls; mean age of lateral cephalograms taken, 8.8 y (T1) and 13.7 y (T2)]. According to k-means cluster analysis, four clusters were defined over 3 major groups at T1: (1) Both very retrusive maxilla and mandible group: Cluster-4 [n=4, very large gonial angle, very low facial height ratio (FHR)] and Cluster-1 (n=5, small gonial angle, normal FHR); (2) Retrusive maxilla and very retrusive mandible group (Cluster-3, n=7, normal gonial angle, very low FHR); and (3) Both normal maxilla and mandible group (Cluster-2, n=4, very large gonial angle, low FHR). Seven angular and ratio variables [sella-nasion-A point (SNA), sella-nasion-B point (SNB), A point-nasion-B point (ANB), saddle angle, gonial angle, mandibular-body-length/anterior-cranial-base-length (MBL/ACBL), and FHR] at T1 and T2 and growth change from T1 to T2 were investigated.
RESULTS
At T1, SNA, SNB, saddle angle, gonial angle (all P<0.05), and FHR (P<0.01) showed significant difference among 4 clusters. At T2, SNA, SNB and gonial angle (all P<0.05) still showed significant difference among 4 clusters. During T1 to T2, there was no significant change in variables at each cluster except an increase in MBL/ACBL in Cluster-1 and FHR in Cluster-3 (all P<0.05).
CONCLUSIONS
Preadolescent PRS patients exhibited diverse skeletal phenotypes at T1, which did not change significantly from their original skeletal patterns by growth during T1 to T2.
PubMed: 38771200
DOI: 10.1097/SCS.0000000000010187 -
The Laryngoscope Apr 2024The primary aim of this study is to describe a novel surgical technique developed for tongue base suspension (TBS). The second aim of this study is to assess the...
OBJECTIVES
The primary aim of this study is to describe a novel surgical technique developed for tongue base suspension (TBS). The second aim of this study is to assess the efficacy of the developed procedure by quantifying preoperative and postoperative polysomnographic outcomes for pediatric patients undergoing fluoroscopic-assisted tongue suspension (FATS) with the Encore System. Our hypothesis is that our FATS technique will provide at least a 50% reduction in the Apnea/Hypopnea Index (AHI), including in the medically complex pediatric population.
STUDY DESIGN
Retrospective case series.
METHODS
An electronic medical record review was conducted of patients who underwent FATS by a single surgeon at a tertiary care medical center between December 2019 and June 2022. Inclusion criteria included all patients <18 years old with evidence of OSA or sleep-disordered breathing and who had glossoptosis on sleep endoscopy. Data extracted from the medical record included age, gender, medical comorbidity history, reason for referral, history of airway surgeries, length of hospital stay, surgical complications data, and preoperative and postoperative polysomnographic data. Surgical success was defined by at least a 50% reduction in AHI.
RESULTS
Thirty patients (53.3% male) with a mean age of 6.3 (±5.3, 0.16-17) years underwent FATS over the study period. Most patients (93%) had an underlying comorbidity: cerebral palsy (37%), chromosomal abnormalities (23%), Down syndrome (13%), Pierre-Robin sequence (10%), and obesity (10%). The majority of patients (77%) were explicitly referred for tracheostomy placement secondary to failed management of OSA. 21 patients completed both preoperative and postoperative polysomnograms. The mean preoperative AHI, obstructive AHI (oAHI), and respiratory disturbance index (RDI) were 28.8 (±19.8), 30.8 (±19.6), and 30.5 (±19.3), respectively. The mean postoperative AHI, oAHI, and RDI were 7.3 (±9.2), 7.5 (±9.1), and 7.9 (±9.3), respectively. The mean change in AHI was -21.5 (±21.4) events/h (p < 0.01, 95% CI -29.0 to -11.4 events/h). The mean percentage decrease in AHI was 74.7%. The mean change in oAHI and RDI were -23.3 (±21.9) events/h (p < 0.01 95% CI- 39.9 to -21.4 events/h) and -22.5 (±21.5) events/h (p < 0.01, 95% CI- 31.5 to -12.4 events/h), respectively. The mean percentage decrease in oAHI and RDI was 75.6% and 73.8%, respectively. Surgical success occurred in 16 of the 21 (76%) patients. Of the 23 patients referred explicitly for tracheostomy placement, 21 (91%) were able to avoid tracheostomy placement secondary to improvements in OSA.
CONCLUSIONS
Patients undergoing fluoroscopic-assisted TBS revealed statistically significant improvements in AHI, oAHI, and RDI, with an overall surgical success rate of 76%. Complication rates were minimal, despite the complex nature of the study population. FATS should be considered a viable surgical approach in pediatric patients with an identified base of tongue obstruction and OSA.
LEVEL OF EVIDENCE
4 Laryngoscope, 134:S1-S9, 2024.
Topics: Humans; Child; Male; Adolescent; Female; Retrospective Studies; Sleep Apnea, Obstructive; Tongue; Fluoroscopy; Endoscopy
PubMed: 37823584
DOI: 10.1002/lary.31107 -
Birth Defects Research Aug 2023TARP syndrome, characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava, is an X-linked recessive condition... (Review)
Review
BACKGROUND
TARP syndrome, characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava, is an X-linked recessive condition caused by deleterious variants in RBM10. Vitelline vascular remnants (VVR) are a rare vitelline duct anomaly with approximately 26 cases previously reported. There are no previously reported cases of VVRs in patients with TARP syndrome.
CASE
We present a male neonate diagnosed with TARP syndrome via trio whole exome sequencing who had classic features of this syndrome, although his course was additionally complicated by feeding intolerance with multiple episodes of abdominal distension. Serial imaging and contrast studies of the upper GI tract and small bowel demonstrated small bowel obstruction of unclear etiology. Given the poor prognosis associated with this condition, life-sustaining measures were withdrawn, and he passed away at 38 days of age. On autopsy, a VVR was unexpectedly identified with proximal bowel dilation, explaining his feeding intolerance.
CONCLUSIONS
We highlight the importance of full post-mortem examination in understanding the complete spectrum of manifestations of genetic syndromes and provide a review of the literature.
Topics: Humans; Male; Infant, Newborn; Pierre Robin Syndrome; Clubfoot; Vena Cava, Superior; Phenotype; Intestinal Obstruction; RNA-Binding Proteins
PubMed: 37340830
DOI: 10.1002/bdr2.2212 -
Annals of Plastic Surgery Jun 2024Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various...
BACKGROUND
Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various approaches to managing compromised airways, ranging from conservative measures to invasive airway surgery. This study was conducted to identify predictive risk factors for tracheostomy in the PRS.
METHODS
A retrospective chart review was conducted at a tertiary referral hospital in Thailand. Children diagnosed with PRS from January 2010 to December 2021 were enrolled. Univariate and multivariate analysis methods were used to identify the risk factors.
RESULTS
Sixty-five patients with PRS were identified in electronic medical records, but 6 were excluded. Thirteen of the remaining 59 patients underwent tracheostomy. There were no significant differences in sex, preterm gestational age, cleft palate, associated syndromes, chromosome abnormalities, or cardiac or neurological involvement between patients who received tracheostomy and those who did not. However, patients with oropharyngeal dysfunction who received tracheostomy tended to use a nasogastric tube or percutaneous gastrostomy 92.3% of the time ( P = 0.043). In addition, patients with abnormal airways from endoscopy were more likely to undergo tracheostomy (odds ratio, 2.17; 95% confidence interval [CI], 1.20-3.90). Interestingly, patients with a sum of Apgar scores at 1 and 5 minutes <15 were more likely to undergo tracheostomy (adjusted odds ratio, 9.91; 95% CI, 1.32-74.52). Furthermore, patients with at least 3 identified comorbidities were more likely to undergo tracheostomy (adjusted odds ratio, 11.34; 95% CI, 1.16-111.15).
CONCLUSIONS
The need for tracheostomy depends on comorbidities, Apgar scores, and abnormal airway anatomy. Feeding methods can become more complex with tracheostomy. Prognostic risk factors can help guide treatment and counseling for health care workers and caregivers.
Topics: Humans; Pierre Robin Syndrome; Tracheostomy; Male; Thailand; Retrospective Studies; Female; Tertiary Care Centers; Prognosis; Infant, Newborn; Infant; Risk Factors; Risk Assessment
PubMed: 38718326
DOI: 10.1097/SAP.0000000000003885