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Sleep May 2023To investigate neurocognitive and behavioral outcomes at primary school age in relation to obstructive sleep apnea (OSA) in children with Robin sequence (RS) treated...
STUDY OBJECTIVES
To investigate neurocognitive and behavioral outcomes at primary school age in relation to obstructive sleep apnea (OSA) in children with Robin sequence (RS) treated with the Tuebingen palatal plate in infancy and to assess the impact of OSA in these patients.
METHODS
Forty-two primary school-aged children (n = 21 with RS, n = 21 age- and sex-matched controls) underwent polysomnography, intelligence testing ("Wechsler Intelligence Scale for Children-Fifth Edition" [WISC-V]), and anthropometrics. Families completed a 7-day sleep diary and questionnaires on sleep and behavior (Children's Sleep Habits Questionnaire [CSHQ] and the Child Behavior Checklist [CBCL]).
RESULTS
In children with RS (17 non-syndromic, four syndromic; median age 9.7 [8.5-10.8] years), the obstructive apnea-hypopnea index (OAHI) was significantly higher than in controls (1.3 [0.4-2.7]/h vs. 0.4 [0.1-0.6]/h). Two syndromic children with RS were already on nocturnal respiratory support for OSA prior to our study, and one non-syndromic child was diagnosed with severe OSA (OAHI 57/h) despite an unremarkable medical history and questionnaire. The overall intelligence quotient in children with RS was within the normal range and did not differ between children with RS and healthy peers (102 vs. 108, p = .05). However, children with RS had values in the at-risk clinical range for externalizing behavior.
CONCLUSIONS
These children with RS showed an increased risk of OSA and behavioral problems, suggesting regular screening for OSA throughout childhood. Neurocognitive scores in children with RS were within the normal range after adequate treatment of OSA during infancy.
Topics: Child; Female; Humans; Male; Anthropometry; Child Behavior; Internal-External Control; Pierre Robin Syndrome; Polysomnography; Sleep; Sleep Apnea, Obstructive; Surveys and Questionnaires; Wechsler Scales; Infant; Bone Plates; Cross-Sectional Studies; Cognition; Self Report; Checklist
PubMed: 36566505
DOI: 10.1093/sleep/zsac317 -
The Cleft Palate-craniofacial Journal :... Jul 2020To investigate airway morphology changes in patients with Pierre Robin sequence (PRS) pre-/post-mandibular distraction osteogenesis (MDO) and to compare morphologic...
OBJECTIVE
To investigate airway morphology changes in patients with Pierre Robin sequence (PRS) pre-/post-mandibular distraction osteogenesis (MDO) and to compare morphologic changes to age-matched controls.
DESIGN
Retrospective case-control study.
SETTING
Urban, academic, tertiary medical center.
PATIENTS, PARTICIPANTS
Fifteen patients with PRS after MDO to relieve upper airway obstruction (UAO) (2008-2018); age-matched controls for post-MDO patients.
INTERVENTIONS
Mandibular distraction osteogenesis, curvilinear internal mandibular distractors.
MAIN OUTCOME MEASURES
(1) Physiologic improvement after MDO (apnea-hypopnea index; minimum oxygen saturation); (2) airway size (volume, surface area, length, mean/minimum cross-sectional area), shape (lateral:anterior-posterior ratio, cross-sectional area ratios, uniformity, sphericity), and changes with MDO; and (3) post-MDO airway size, shape versus age-matched controls.
RESULTS
Airway size increased after MDO (volume, = .01; surface area, = .02; length, = .01), as did cross-sectional area (mean, = .02; minimum, = .02; minimum retropalatal, = .05, mid-retroglossal, = .02). Post-MDO PRS airways were larger than controls (volume, < .01; surface area, < .01; length, < .01, cross-sectional area, = .03). Airway shape remained nonuniform and flat post-MDO; control airways were round. Two syndromic patients required repeat MDO and had subphysiologic post-MDO airway cross-sectional area. Post-MDO PRS patients with supraphysiologic cross-sectional area along the entire airway had no UAO recurrence.
CONCLUSIONS
In this small, heterogenous patient sample, MDO increases airway size, may preferentially affect the retropalatal airway, and often results in supraphysiologic airway dimensions. These retropalatal changes may be important in relieving severe UAO in patients with PRS. Generalizability of our results is limited by small cohort size and patient heterogeneity.
Topics: Airway Obstruction; Case-Control Studies; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 31964165
DOI: 10.1177/1055665619900624 -
Pediatric Radiology Aug 2015Pierre Robin sequence is characterized by micrognathia and glossoptosis causing upper airway obstruction. Mandibular distraction osteogenesis is a mandibular lengthening... (Review)
Review
Pierre Robin sequence is characterized by micrognathia and glossoptosis causing upper airway obstruction. Mandibular distraction osteogenesis is a mandibular lengthening procedure performed in neonates and children with Pierre Robin sequence to alleviate airway compromise. This pictorial review demonstrates the role of imaging in the preoperative and postoperative assessment of these children. It is important for pediatric radiologists to know what information about the mandible and airway the craniofacial surgeon needs from preoperative imaging and to identify any complications these children may encounter after surgery.
Topics: Female; Humans; Infant; Infant, Newborn; Mandibular Advancement; Osteogenesis, Distraction; Pierre Robin Syndrome; Postoperative Care; Preoperative Care; Prognosis; Radiography, Dental; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 25792154
DOI: 10.1007/s00247-015-3323-y -
Journal of Dental Research Apr 2021The etiology and pathogenesis of craniofacial birth defects are multifactorial and include both genetic and environmental factors. Despite the identification of numerous...
The etiology and pathogenesis of craniofacial birth defects are multifactorial and include both genetic and environmental factors. Despite the identification of numerous genes associated with congenital craniofacial anomalies, our understanding of their etiology remains incomplete, and many affected individuals have an unknown genetic diagnosis. Here, we show that conditional loss of a Mediator complex subunit protein, Med23 in mouse neural crest cells (;), results in micrognathia, glossoptosis, and cleft palate, mimicking the phenotype of Pierre Robin sequence. messenger RNA and protein levels are both upregulated in neural crest cell-derived mesenchyme surrounding Meckel's cartilage and in the palatal shelves in ; mutant embryos compared to controls. Consistent with these observations, we demonstrate that Med23 binds to the promoter region of and represses Sox9 expression in vitro. Interestingly, Sox9 binding to β-catenin is enhanced in ; mutant embryos, which, together with downregulation of Col2a1 and Wnt signaling target genes, results in decreased proliferation and altered jaw skeletal differentiation and cleft palate. Altogether, our data support a cell-autonomous requirement for Med23 in neural crest cells, potentially linking the global transcription machinery through Med23 to the etiology and pathogenesis of craniofacial anomalies such as micrognathia and cleft palate.
Topics: Animals; Cleft Palate; Mediator Complex; Mesoderm; Mice; Neural Crest; Pierre Robin Syndrome; SOX9 Transcription Factor; Wnt Signaling Pathway
PubMed: 33155500
DOI: 10.1177/0022034520969109 -
International Journal of Pediatric... Mar 2019To assess the impact of feeding practices on growth in infants with Pierre Robin Sequence (PRS) during their inpatient stay in a neonatal intensive care unit in a large...
OBJECTIVES
To assess the impact of feeding practices on growth in infants with Pierre Robin Sequence (PRS) during their inpatient stay in a neonatal intensive care unit in a large tertiary paediatric hospital setting.
METHODS
A retrospective review of feeding practices in infants with PRS was conducted between January 2006 and September 2017. Baseline demographics, nutrition-related and general outcomes were collected. Feeding difficulties, length of stay (LOS) and malnutrition were the primary outcome measures. Feeding difficulties included absence or poor-quality suck, episodes of aspiration, use of proton pump inhibitors or multiple episodes of vomiting. Malnutrition was classified as a weight-for-age Z score of < -1.
RESULTS
Analysis was conducted on 49 infants with PRS that met eligibility criteria. Feeding difficulties correlated with a longer LOS (24.1 vs 6.8 days (p = 0.001)) Z-scores differed significantly between birth and discharge (0.21(1.84) vs -1.27(2.14)) (p < 0.001*) with malnutrition being evident in 26 infants of which only 17 infants were seen by a dietitian. Presence of intrauterine growth restriction (IUGR) increased the likelihood of malnutrition (OR 1.40(CI-1.11-1.77)).
CONCLUSION
Infants with PRS are highly likely to have feeding difficulties and malnutrition. Early intervention by a dietitian is recommended to reduce the impacts of feeding difficulties, meet elevated energy requirements and facilitate growth. Infants with a longer inpatient stay or presence of IUGR should have their growth and feeding routinely monitored.
Topics: Body Weight; Feeding Methods; Feeding and Eating Disorders of Childhood; Female; Fetal Growth Retardation; Humans; Infant; Infant, Newborn; Intensive Care, Neonatal; Length of Stay; Male; Malnutrition; Pierre Robin Syndrome; Retrospective Studies
PubMed: 30578989
DOI: 10.1016/j.ijporl.2018.12.004 -
The Cleft Palate-craniofacial Journal :... Aug 2023Mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP) may each have a role in effectively treating tongue-based airway obstruction...
Mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP) may each have a role in effectively treating tongue-based airway obstruction (TBAO) in Robin sequence (RS). This study describes longitudinal outcomes after treatment of TBAO with CPAP and/or MDO. Retrospective cohort study. Tertiary Pediatric Hospital. A total of 129 patients with RS treated with CPAP and/or MDO from 2009 to 2019 were reviewed. Subjects receiving baseline and at least one follow-up polysomnogram were included. 55 who underwent MDO ± CPAP and 9 who received CPAP-only treatment were included. Patient characteristics, feeding, and polysomnographic data were compared and generalized linear mixed modeling performed. Baseline obstructive apnea-hypopnea index (OAHI) was greater in the MDO-treated group (median x˜ = 33.7 [interquartile range: 26.5-54.5] than the CPAP-treated group (x˜ = 20.3[13.3-36.7], ≤ .033). There was significant reduction in OAHI following treatment with CPAP and MDO modalities, ≤ .001. SpO nadir after MDO was lower in syndromic (x˜ = 85.0[81.0-87.9] compared to nonsyndromic patients (x˜ = 88.4[86.8-90.5], ≤ .005.) CPAP was utilized following MDO in 2/24 (8.3%) of nonsyndromic and 16/31 (51.6%) of syndromic subjects ( ≤ .001,) for a median duration of 414 days. Three patients (5%) underwent tracheostomy, all had MDO. Nasogastric tube feeding at hospital discharge was more common following MDO (44, 80%) than CPAP-only (4, 44.4%, ≤ .036), but did not differ at 6-month follow-up ( ≥ .376). CPAP appears to effectively reduce obstructive apnea in patients with RS and moderate TBAO and be a useful adjunct in syndromic patients following MDO with improved but persistent obstruction.
Topics: Humans; Child; Infant; Retrospective Studies; Continuous Positive Airway Pressure; Pierre Robin Syndrome; Osteogenesis, Distraction; Treatment Outcome; Airway Obstruction; Sleep Apnea, Obstructive; Combined Modality Therapy; Mandible
PubMed: 35352571
DOI: 10.1177/10556656221088173 -
Seminars in Fetal & Neonatal Medicine Dec 2021A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and... (Review)
Review
A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and unnecessarily detrimental to quality of life, and proposes possible areas of research to improve patient outcomes.
Topics: Humans; Infant; Parents; Pierre Robin Syndrome; Quality of Life
PubMed: 34688586
DOI: 10.1016/j.siny.2021.101288 -
American Journal of Perinatology May 2024This study aimed to explore the efficiency of ultrasound (US) in prenatal diagnosis and prognosis of Pierre Robin sequence (PRS) of 18 cases.
OBJECTIVE
This study aimed to explore the efficiency of ultrasound (US) in prenatal diagnosis and prognosis of Pierre Robin sequence (PRS) of 18 cases.
STUDY DESIGN
A total of 79,305 women admitted for prenatal US examinations were recruited from January 2017 to December 2020. Eighteen cases of PRS fetuses were selected form the cohort and 40 cases of isolated micrognathia were recruited randomly as control group. All the clinical and imaging results were retrospectively reviewed. General condition, US measurements, and prognosis of fetuses were compared between groups.
RESULTS
Cleft palate, glossoptosis, and micrognathia were found in all 18 fetuses with PRS by prenatal US. Compared with the isolated micrognathia group, there were no significant differences in the PRS group in examination of maternal age, gestational weeks at assessment, and gender of fetuses, but significant lower measures in inferior facial angle, jaw index, and frontal nasal-mental angle (each < 0.05). Twelve fetuses were defined to have other associated malformations. Ear malformations were the most common associated malformations with a prevalence of 44.4% (8/18). All of the18 cases were confirmed with PRS after delivery or autopsy. Two delivered infants were found bucking easily, one baby was spitting up frequently but growth showed normal.
CONCLUSION
Prenatal detection of PRS with US examination is highly efficient. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period. Prenatal detection of Pierre Robin syndrome with targeted US examination is efficient in discerning characteristics of this rare syndrome. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period.
KEY POINTS
· Prenatal diagnosis of fetal PRS is of great clinical importance.. · Micrognathia has been identified as the primary feature of PRS.. · Posterior displacement of the tongue may cause acute neonatal respiratory distress.. · Even with triad malformation, isolated PRS seemed to have good outcomes..
Topics: Humans; Pierre Robin Syndrome; Female; Retrospective Studies; Pregnancy; Ultrasonography, Prenatal; Prognosis; Infant, Newborn; Micrognathism; Adult; Cleft Palate; Male; Glossoptosis; Gestational Age
PubMed: 37068514
DOI: 10.1055/s-0043-1768233 -
Seminars in Fetal & Neonatal Medicine Dec 2021Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent... (Review)
Review
Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent management following the initial diagnosis. If a suspicion of a facial cleft or RS is made, a detailed anatomical examination of the fetus should be carried out to identify further anomalies. This may also involve genetic testing including a microarray or an exome analysis. Interdisciplinary counseling, including pre- and postnatal experts with sufficient experience in the management of such neonates, should be involved in this counseling. Parents should be informed about disease-specific therapeutic options and postnatal outcome. Delivery should take place in a center with experience in craniofacial malformations where clinicians are prepared for potentially life-threatening airway obstruction immediately after birth.
Topics: Cleft Lip; Cleft Palate; Female; Fetus; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Pregnancy; Ultrasonography, Prenatal
PubMed: 34593337
DOI: 10.1016/j.siny.2021.101291 -
The Cleft Palate-craniofacial Journal :... Jul 2022To describe the initial care practices for children with Pierre Robin sequence (PRS) and analyze the factors predicting the severity of the obstruction breathing...
OBJECTIVES
To describe the initial care practices for children with Pierre Robin sequence (PRS) and analyze the factors predicting the severity of the obstruction breathing disorders.
DESIGN
A retrospective single-center study of 150 children with PRS.
SETTING
Single tertiary care center, Regional Competence Center for the diagnosis and treatment of PRS.
PATIENTS
A total of 150 children with PRS consecutively followed between 1986 and 2017. Group 1 comprises children without specific respiratory management; group 2, children requiring prone positioning to alleviate their respiratory distress symptoms; and group 3, children requiring nasopharyngeal airway tube (NT) or nonconservative surgical treatment.
MAIN OUTCOME MEASURES
Evolution and results of the initial treatment of PRS.
RESULTS
Forty-two percent (n = 63) were attributed to group 1, 39% (n = 50) to group 2, and 19% (n = 29) to group 3. Preterm birth, birth weight, or associated congenital malformations were not significantly different between the groups. However, the age of exclusive oral feeding was significantly different: 1 day (quartiles: 0-3) for group 1; 11 days (quartiles: 1-28) for group 2; 39 days (quartiles: 19-111) for group 3 ( < .0001). Considering the NT, its use relieves the upper airway obstruction, assessed by a respiratory polygraphy, in 14 children.
CONCLUSIONS
Nasopharyngeal airway tube has become our major first-line treatment, avoiding more complex procedures in most of the cases. The achievement of exclusive oral feeding seems to be a good predictor of the severity of respiratory symptoms in PRS.
Topics: Airway Obstruction; Child; Female; Humans; Infant; Infant, Newborn; Nasopharynx; Pierre Robin Syndrome; Premature Birth; Retrospective Studies
PubMed: 34313144
DOI: 10.1177/10556656211031105