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Journal of the Korean Association of... Feb 2016Patients with Pierre Robin sequence exhibit varying degrees of airway obstruction and feeding difficulty. In some patients, airway obstruction may be profound,...
Patients with Pierre Robin sequence exhibit varying degrees of airway obstruction and feeding difficulty. In some patients, airway obstruction may be profound, warranting surgical intervention to maintain a patent airway. The purpose of this article is to highlight the advantages of the tongue-lip adhesion procedure for the management of airway obstruction in such patients compared to the currently available options.
PubMed: 26904495
DOI: 10.5125/jkaoms.2016.42.1.47 -
Orphanet Journal of Rare Diseases Oct 2021Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft...
BACKGROUND
Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL; KIDSCREEN-52), and searched for determinants of these outcomes.
RESULTS
Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Only one vs two-stage surgery seemed to affect final aesthetic results. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The vocal QoL of the adolescents (mean [SD] VHI-9i = 7.5 [5.4]) was better than that of patients with other voice pathologies and better when phonation was good. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. QoL results were lower for adolescents with non-isolated than isolated PRS. Only non-isolated PRS and low oral QoL affected generic QoL.
CONCLUSION
Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease.
Topics: Adolescent; Connective Tissue Diseases; Cross-Sectional Studies; Humans; Phonation; Pierre Robin Syndrome; Quality of Life
PubMed: 34670591
DOI: 10.1186/s13023-021-02072-0 -
The Cleft Palate-craniofacial Journal :... Aug 2022To investigate the early communication behaviors in infants with nonsyndromic isolated cleft palate (iCP) and Robin sequence (RS).
OBJECTIVE
To investigate the early communication behaviors in infants with nonsyndromic isolated cleft palate (iCP) and Robin sequence (RS).
DESIGN
Group comparison using parent report.
PARTICIPANTS
There were 106 participants included in this study. Two groups were selected from the UK Cleft Collective resource. Parents had completed the Language ENvironment Analysis Developmental Snapshot questionnaire when their child turned 13 months. There were 78 participants in the iCP group and 28 in the RS group.
MAIN OUTCOME MEASURE(S)
Total number of communication behaviors reported on the questionnaire. Subdomains for expressive and receptive language and social communication behaviors were also analyzed.
RESULTS
There were no statistically significant group differences. Parents of infants with RS reported fewer later communication behaviors compared to the iCP group. Infants in both groups had fewer communication behaviors compared to the normative sample. Across the whole sample, post hoc analysis revealed a significant correlation between severity of the cleft and social communication behaviors and expressive but not receptive language. Infants with a cleft of the hard and soft palate were more likely to be in the RS group (odds ratio: 7.04 [95% CI: 1.55-32.04]; = .01).
CONCLUSIONS
Both groups reported similar levels of early communication. Some divergence of more complex language skills was seen, although there were no significant group differences. A relationship with the diagnosis of a cleft of the hard or soft palate with expressive language behaviors was found. Further study into the impact of cleft severity on early speech development and the relationship with later language skills is needed along with longitudinal follow-up of this population.
Topics: Cleft Lip; Cleft Palate; Communication; Humans; Infant; Infant, Newborn; Language Development; Pierre Robin Syndrome
PubMed: 34259062
DOI: 10.1177/10556656211031877 -
Pediatric Research Apr 2023Obstructive sleep apnea in infants with Pierre Robin sequence is sleep-position dependent. The influence of sleep position on obstructive events is not established in...
BACKGROUND
Obstructive sleep apnea in infants with Pierre Robin sequence is sleep-position dependent. The influence of sleep position on obstructive events is not established in other infants.
METHODS
We re-evaluated ten-year pediatric sleep center data in infants aged less than six months, with polysomnography performed in different sleep positions. We excluded infants with syndromes, genetic defects, or structural anomalies.
RESULTS
Comparison of breathing between supine and side sleeping positions was performed for 72 infants at the median corrected age of 4 weeks (interquartile range (IQR) 2-8 weeks). Of the infants, 74% were male, 35% were born prematurely, and 35% underwent study because of a life-threatening event or for being a SIDS sibling. Upper airway obstruction was more frequent (obstructive apnea-hypopnea index (OAHI), p < 0.001), 95th-percentile end-tidal carbon dioxide levels were higher (p = 0.004), and the work of breathing was heavier (p = 0.002) in the supine than in the side position. Median OAHI in the supine position was 8 h (IQR 4-20 h), and in the side position was 4 h (IQR 0-10 h).
CONCLUSIONS
Obstructive upper airway events in young infants are more frequent when supine than when sleeping on the side.
IMPACT
The effect of sleep position on obstructive sleep apnea is not well established in infants other than in those with Pierre Robin sequence. A tendency for upper airway obstruction is position dependent in most infants aged less than 6 months. Upper airway obstruction is more common, end-tidal carbon dioxide 95th-percentile values higher, and breathing more laborious in the supine than in the side-sleeping position. Upper airway obstruction and obstructive events have high REM sleep predominance. As part of obstructive sleep apnea treatment in young infants, side-sleeping positioning may prove useful.
Topics: Child; Humans; Male; Infant; Infant, Newborn; Female; Pierre Robin Syndrome; Carbon Dioxide; Sleep Apnea, Obstructive; Sleep; Airway Obstruction; Supine Position
PubMed: 35974159
DOI: 10.1038/s41390-022-02202-9 -
Indian Journal of Otolaryngology and... Dec 2022Carotid Anomalies are with significant surgical implication to an Otorhinolaryngologist. The authors discuss the evaluation and management of a child with Pierre Robin...
Carotid Anomalies are with significant surgical implication to an Otorhinolaryngologist. The authors discuss the evaluation and management of a child with Pierre Robin Syndrome who presented with severe OSA, secondary to bilateral midline carotids that compromised the airway, and an adult with cervical bolus and dysphagia who presented similar to chronic tonsillitis but found to have Retropharyngeal Carotids. This case study emphasizes the need for awareness and a high index of suspicion to identify the variation of the carotid artery in nasopharyngeal and oropharyngeal surgery that has a propensity to result in catastrophic consequences if operated upon.
PubMed: 36742624
DOI: 10.1007/s12070-021-02501-3 -
PloS One 2021Video laryngoscopy is an effective tool in the management of difficult pediatric airway. However, evidence to guide the choice of the most appropriate video laryngoscope... (Comparative Study)
Comparative Study
Comparison of Glidescope Core, C-MAC Miller and conventional Miller laryngoscope for difficult airway management by anesthetists with limited and extensive experience in a simulated Pierre Robin sequence: A randomized crossover manikin study.
BACKGROUND
Video laryngoscopy is an effective tool in the management of difficult pediatric airway. However, evidence to guide the choice of the most appropriate video laryngoscope (VL) for airway management in pediatric patients with Pierre Robin syndrome (PRS) is insufficient. Therefore, the aim of this study was to compare the efficacy of the Glidescope® Core™ with a hyperangulated blade, the C-MAC® with a nonangulated Miller blade (C-MAC® Miller) and a conventional Miller laryngoscope when used by anesthetists with limited and extensive experience in simulated Pierre Robin sequence.
METHODS
Forty-three anesthetists with limited experience and forty-three anesthetists with extensive experience participated in our randomized crossover manikin trial. Each performed endotracheal intubation with the Glidescope® Core™ with a hyperangulated blade, the C-MAC® with a Miller blade and the conventional Miller laryngoscope. "Time to intubate" was the primary endpoint. Secondary endpoints were "time to vocal cords", "time to ventilate", overall success rate, number of intubation attempts and optimization maneuvers, Cormack-Lehane score, severity of dental trauma and subjective impressions.
RESULTS
Both hyperangulated and nonangulated VLs provided superior intubation conditions. The Glidescope® Core™ enabled the best glottic view, caused the least dental trauma and significantly decreased the "time to vocal cords". However, the failure rate of intubation was 14% with the Glidescope® Core™, 4.7% with the Miller laryngoscope and only 2.3% with the C-MAC® Miller when used by anesthetists with extensive previous experience. In addition, the "time to intubate", the "time to ventilate" and the number of optimization maneuvers were significantly increased using the Glidescope® Core™. In the hands of anesthetists with limited previous experience, the failure rate was 11.6% with the Glidescope® Core™ and 7% with the Miller laryngoscope. Using the C-MAC® Miller, the overall success rate increased to 100%. No differences in the "time to intubate" or "time to ventilate" were observed.
CONCLUSIONS
The nonangulated C-MAC® Miller facilitated correct placement of the endotracheal tube and showed the highest overall success rate. Our results therefore suggest that the C-MAC® Miller could be beneficial and may contribute to increased safety in the airway management of infants with PRS when used by anesthetists with limited and extensive experience.
Topics: Adult; Anesthetists; Cross-Over Studies; Female; Glottis; Humans; Infant; Intubation, Intratracheal; Laryngoscopes; Laryngoscopy; Male; Manikins; Middle Aged; Pierre Robin Syndrome; Video Recording
PubMed: 33886650
DOI: 10.1371/journal.pone.0250369 -
BMC Public Health Dec 2023This is the first national study to investigate the incidence of non-syndromic oro-facial clefts (NSOFC) and Pierre-Robin-Sequence in Saudi Arabia over the Covid-19...
OBJECTIVES
This is the first national study to investigate the incidence of non-syndromic oro-facial clefts (NSOFC) and Pierre-Robin-Sequence in Saudi Arabia over the Covid-19 pandemic period.
METHODS
All maternity hospitals (30-hospitals) in the major regions and cities of Saudi from November 2020-to-2021 were included in the study. Patients were evaluated for cleft phenotype using the LASHAL-classification system. The incidence of NSOFC in Saudi Arabia was calculated by comparing the number of NSOFCs cases born out of all live births during the study period at the included hospitals. Clinical examination was performed and information was gathered using a validated data collection form.
RESULTS
In one year, 140,380 live-infants were born at the selected hospitals. Of these, 177 were diagnosed with NSOFC giving an incidence of 1.26/1,000 live-births in Saudi Arabia and the highest incidence in Medina city (2.46/1000 live-births). The incidence of cleft lip-and-palate (0.67/1000 live-births) was higher than that of cleft-palate (0.37/1000 live-births) and cleft-lip (0.22/1000 live-births). Pierre-Robin Sequence incidence was (0.04/1000 live-births). There were 21(12.1) or 23(13.2%) of NSOFC's mothers exposed or vaccinated with Covid-19, respectively.
CONCLUSION
The national incidence of NSOFC in Saudi Arabia was 1.26/1000 live births with variation between phenotypes and regions in the country. In addition, to reporting Covid-19 infection prevalence and vaccine exposure among NSOFC's mothers, this study represents the first of its type to evaluate NSOFC prevalence in Saudi Arabia on a national level.
Topics: Humans; Female; Pregnancy; Cleft Lip; Cleft Palate; Saudi Arabia; Incidence; Pandemics; COVID-19; Prevalence
PubMed: 38114928
DOI: 10.1186/s12889-023-17270-7 -
International Journal of Health Sciences 2021Pierre Robin sequence has been known to present with multiple somatic abnormalities. It is known that the syndrome impairs cardiogenesis. However, the reason for this is...
Pierre Robin sequence has been known to present with multiple somatic abnormalities. It is known that the syndrome impairs cardiogenesis. However, the reason for this is unknown. Impaired cardiogenesis manifests in the form of various defects such as ventricular septal defect and atrial septal defect but the presence of tetralogy of Fallot is very rare.
PubMed: 33708045
DOI: No ID Found -
American Journal of Physiology. Cell... Sep 2021
Topics: Animals; Cell Differentiation; Cell Fusion; Disease Models, Animal; Humans; Membrane Fusion; Membrane Proteins; Mice; Mice, Knockout; Mobius Syndrome; Muscle Proteins; Muscular Diseases; Mutation, Missense; Myoblasts, Skeletal; Pierre Robin Syndrome; Protein Isoforms; Zebrafish
PubMed: 34288723
DOI: 10.1152/ajpcell.00187.2021 -
The Cleft Palate-craniofacial Journal :... Jul 2022To document and analyze the overall longitudinal institutional treatment experience of children with nonsyndromic Robin sequence (RS) from infancy to early adulthood.
OBJECTIVE
To document and analyze the overall longitudinal institutional treatment experience of children with nonsyndromic Robin sequence (RS) from infancy to early adulthood.
DESIGN
Retrospective longitudinal treatment review.
SETTING
A tertiary-care, referral, teaching hospital.
PATIENTS
Children with nonsyndromic RS and cleft palate (N = 117) born between December, 1985, and January, 2012.
INTERVENTIONS
Data regarding airway management, nutritional management, audiological interventions, orthodontic treatment, and surgical interventions were documented and analyzed in different growth/developmental stages. Comparative data from other international centers were collected from the literature.
RESULTS
Airway management during infancy involved prone positioning (92%), nasopharyngeal airway (6%), tracheostomy (2%), and mandibular distraction osteogenesis (1%). Feeding with nasogastric, gastrostomy, and/or gastrojejunostomy tubes was used in 44%, Haberman feeders in 53%, and Mead Johnson feeders in 3%. Gastroesophageal reflux disease was documented in 6% of the sample. During childhood and early adolescent years, pharyngeal flap surgery was carried out in 22% of the children, while 11% had secondary palatal surgery. Audiological management included the use of tympanostomy tubes in 62%, with several children needing multiple tube replacements. At least 18% were diagnosed with obstructive sleep apnea. Adenoidectomy or adenotonsillectomy was undertaken in 4%. Analysis of data pertaining to middle childhood and adolescent years showed that orthodontic treatment was conducted for most children for crowding, tooth agenesis, and skeletal and/or dental dysplasia. Orthognathic surgery frequency (<18%) was low.
CONCLUSIONS
Institutional treatment experience of children with nonsyndromic RS involves multidisciplinary care at different ages and stages of their development.
Topics: Adolescent; Adult; Child; Cleft Palate; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 34212762
DOI: 10.1177/10556656211026477