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1.
Int J Pediatr Otorhinolaryngol ; 180: 111964, 2024 May.
Article in English | MEDLINE | ID: mdl-38714046

ABSTRACT

OBJECTIVE: Investigate an association between upper airway obstruction (UAO) management in Robin Sequence (RS) and need for bilateral myringotomy and tubes (BMT). METHODS: Retrospective chart review of RS patients treated at a tertiary free-standing pediatric hospital from 1995 to 2020 was performed. Patients were grouped based on airway management: conservative, tracheostomy, tongue-lip adhesion (TLA), and mandibular distraction osteogenesis (MDO). Demographic data, cleft palate (CP) association, numbers of BMT and ear infections, and audiogram data including tympanograms were collected. One-way ANOVA and Chi-square/Fisher's exact tests were used to compare continuous and categorical data, respectively. Multivariable regression analysis was used to compare BMT rates between treatment groups. RESULTS: One hundred forty-eight patients were included, 70.3 % of which had CP. Most patients (67.6 %) had at least one BMT; 29.1 % required two or more BMT. The rate of BMT was higher in patients with CP compared to those with intact palates (p = 0.003; 95 % CI 1.30-3.57) and those treated with tracheostomy (p = 0.043; 95 % CI 1.01, 2.27). Surgically managed patients were more likely to have hearing loss (67.5 % vs. 35.3 %, p = 0.017) and ear infections (42.1 % vs. 20.0 %, p = 0.014) pre-compared to post-procedure for airway management. CONCLUSION: Most RS patients require at least 1 set of BMT. Those with CP and/or treated with tracheostomy had a higher likelihood of needing BMT. Rate of hearing loss and ear infection was higher in surgically managed RS patients. Patients with RS and overt CP require a statistically higher number of BMTs compared to those with either submucous cleft palate or intact palate.


Subject(s)
Airway Obstruction , Middle Ear Ventilation , Pierre Robin Syndrome , Humans , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/surgery , Male , Retrospective Studies , Airway Obstruction/surgery , Airway Obstruction/etiology , Female , Middle Ear Ventilation/methods , Infant , Tracheostomy , Child, Preschool , Airway Management/methods , Osteogenesis, Distraction/methods , Child
2.
Laryngoscope ; 2024 May 16.
Article in English | MEDLINE | ID: mdl-38752606

ABSTRACT

We demonstrate pre-epiglottic baton plate as non-invasive treatment modality for initial airway management in newborns with Pierre Robin Sequence. A case example illustrates management of upper airway obstruction and feeding using digital technology to facilitate customization. Laryngoscope, 2024.

4.
J Craniomaxillofac Surg ; 52(1): 55-58, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37884434

ABSTRACT

The study aimed to evaluate the mid-term effect of MDO in children with Robin sequence (RS). In this case series, 13 patients with RS who underwent MDO were followed up for more than 5 years. Data were collected using clinical history and physical examination. Polysomnography was performed and endoscopic evaluations of the airway was performed if patients still presented obstructive signs of upper airways and/or dysphagia. The patients' clinical signs improved in the mid-term after versus before MDO (inspiratory noise, 92,3% vs 30,8%; apnea, 84,6% vs 7,7%; cyanosis, 76,9% vs 0%; desaturations, 69,2% vs 0%; and suprasternal/intercostal retractions, 61,5% vs 0%; p < 0.05). Statistically significant improvement was noted in the following polysomnographic parameters evaluated in the pre and postoperative mid-term: apnea-hypopnea index, total sleep time and desaturation index (p < 0.05). Within the limitations of the study it seems that MDO is an effective surgical option for children with RS, not only in the short term as previously demonstrated, but also in the mid-term.


Subject(s)
Airway Obstruction , Osteogenesis, Distraction , Pierre Robin Syndrome , Child , Humans , Infant , Polysomnography , Retrospective Studies , Pierre Robin Syndrome/surgery , Apnea , Treatment Outcome , Mandible/surgery , Airway Obstruction/diagnosis , Airway Obstruction/etiology , Airway Obstruction/surgery
5.
Int J Oral Maxillofac Surg ; 53(5): 376-381, 2024 May.
Article in English | MEDLINE | ID: mdl-38061954

ABSTRACT

Brainstem evoked response audiometry (BERA) is the most established and recommended objective audiometric method for the clinical diagnosis of hearing impairment in high-risk infants. It is unclear whether infants with orofacial clefts meet the criteria for the high-risk group. This retrospective cohort study evaluated the need for diagnostic BERA in infants with cleft palate with or without cleft lip by assessing the predisposition to and diagnosis of congenital hearing impairment. Data from 122 patients treated at a single cleft centre were evaluated. BERA was conducted at the time of palate repair at 4-6 months of age. Clinical follow-up was analysed up to 4 years. The presence of a syndrome was examined as a risk factor for congenital hearing impairment. Among the 122 patients, four had congenital sensorineural or mixed hearing loss requiring hearing aids. All affected patients had syndromes in addition to the cleft. Most patients with elevated hearing thresholds had transient conductive hearing loss. Most suspected sensorineural hearing loss initially diagnosed was refuted. However, a higher incidence of sensorineural hearing loss was found in patients with syndromic clefts, supporting the diagnostic use of BERA with initial surgery only in patients with syndromic clefts.


Subject(s)
Cleft Lip , Cleft Palate , Hearing Loss, Sensorineural , Hearing Loss , Infant , Humans , Cleft Lip/surgery , Cleft Palate/complications , Cleft Palate/surgery , Audiometry, Evoked Response , Retrospective Studies , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/epidemiology , Hearing Loss/epidemiology , Brain Stem
6.
Int J Oral Maxillofac Surg ; 52(12): 1250-1254, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37532615

ABSTRACT

The purpose of this article is to report the author's technique for using patient-specific distractors for customized distraction osteogenesis of the mandible in patients with Pierre Robin sequence and upper airway obstruction. The advantages of virtual planning and patient-specific plates in other aspects of craniomaxillofacial surgery, such as orthognathic and reconstructive surgery, have been reported previously. Similar to patient-specific plates, the theorized advantages of patient-specific distractors in infants with Robin sequence and upper airway obstruction include increased accuracy, decreased operating time, and less morbidity to vital anatomic structures such as the inferior alveolar nerve and developing tooth buds. This technique is novel in using patient-specific distractors in the craniomaxillofacial skeleton.


Subject(s)
Airway Obstruction , Osteogenesis, Distraction , Pierre Robin Syndrome , Humans , Infant , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/surgery , Osteogenesis, Distraction/methods , Airway Obstruction/surgery , Mandible/surgery , Treatment Outcome , Retrospective Studies
7.
Clin Case Rep ; 11(5): e7350, 2023 May.
Article in English | MEDLINE | ID: mdl-37205152

ABSTRACT

Key Clinical Message: Children with Pierre Robin syndrome (PRS) often have trouble breathing and eating as soon as they are born. If conservative therapy fails to alleviate airway obstruction, surgical surgery may be considered. Patients with PRS require multidisciplinary approaches for treatment. Abstract: Pierre Robin syndrome is a common craniofacial abnormality that causes glossoptosis and blockage of the upper airway. This renders it difficult to feed, which leads to severe malnutrition. This condition is also often marked by an absence of a soft palate. We mention a newborn with Pierre Robin syndrome with the absence of a soft palate and pneumonia complications, whose impending respiratory failure was treated successfully. To solve the complex problems that these babies and their families are facing, a multidisciplinary approach is needed.

8.
Braz. J. Anesth. (Impr.) ; 73(3): 344-346, May-June 2023. graf
Article in English | LILACS | ID: biblio-1439620

ABSTRACT

Abstract Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate that presents with airway obstruction and developmental delay with or without other congenital anomalies. These patients' anesthesia management is challenging because of difficult ventilation and intubation. Regional anesthesia methods should be considered for these patients on a case-by-case basis. This report presents primary use of regional anesthesia for circumcision of a 9-year-old boy with PRS.


Subject(s)
Humans , Male , Child , Pierre Robin Syndrome/surgery , Pierre Robin Syndrome/complications , Cleft Palate/surgery , Cleft Palate/complications , Airway Obstruction/surgery , Pudendal Nerve , Anesthesia, Conduction/adverse effects , Nerve Block/adverse effects
9.
Dysphagia ; 38(5): 1267-1276, 2023 10.
Article in English | MEDLINE | ID: mdl-36763186

ABSTRACT

Dysphagia in Robin Sequence can be present in varying degrees, requiring multidisciplinary management and specific swallowing assessment by a specialist. Most studies published to date have evaluated only respiratory outcomes, and the available evidence on the improvement of swallowing is questionable. To conduct a systematic review and meta-analysis of studies evaluating swallowing in children with Robin Sequence before and after airway clearance procedures. The research question was developed based on the PICO strategy. The literature search was performed in electronic databases and gray literature. Studies were selected by 3 independent reviewers. The risk of bias and level of evidence of the studies were assessed. A proportion meta-analysis was performed to calculate the prevalence of dysphagia after airway clearance procedures. The search identified 4938 studies, 5 of which were included. All studies had limitations in terms of design and sample size. The prevalence of dysphagia after airway clearance was obtained by analyzing treatment subgroups: mandibular distraction osteogenesis, mandibular distraction osteogenesis + tracheostomy tube, and nasopharyngeal tube. Clinical and/or instrumental assessment was assessed by a swallowing specialist. The meta-analysis was precluded by the limitations of the studies, especially regarding sample size, which affected the accuracy of the findings. Dysphagia remained unresolved in 55% of children (95% CI 1-99%). The methodological quality of the studies indicated a high risk of bias and very low level of evidence. It was not possible to confirm that airway clearance techniques used in Robin Sequence improve dysphagia.


Subject(s)
Deglutition Disorders , Osteogenesis, Distraction , Pierre Robin Syndrome , Humans , Child , Infant , Treatment Outcome , Deglutition Disorders/therapy , Deglutition Disorders/complications , Deglutition , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/surgery , Osteogenesis, Distraction/methods , Retrospective Studies
10.
Braz J Anesthesiol ; 73(3): 344-346, 2023.
Article in English | MEDLINE | ID: mdl-34274365

ABSTRACT

Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate that presents with airway obstruction and developmental delay with or without other congenital anomalies. These patients' anesthesia management is challenging because of difficult ventilation and intubation. Regional anesthesia methods should be considered for these patients on a case-by-case basis. This report presents primary use of regional anesthesia for circumcision of a 9-year-old boy with PRS.


Subject(s)
Airway Obstruction , Anesthesia, Conduction , Cleft Palate , Nerve Block , Pierre Robin Syndrome , Pudendal Nerve , Male , Humans , Child , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/surgery , Airway Obstruction/surgery , Nerve Block/adverse effects , Anesthesia, Conduction/adverse effects , Cleft Palate/complications , Cleft Palate/surgery
11.
Int J Oral Maxillofac Surg ; 52(4): 442-450, 2023 Apr.
Article in English | MEDLINE | ID: mdl-35985910

ABSTRACT

The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular distraction osteogenesis (MDO) using different vectors. Measurements of the mandibles of 80 patients with RS and 46 controls aged< 90 days were made using computed tomography. The data were compared among isolated RS patients (n = 58), syndromic RS patients (n = 22), and controls. Patients with RS exhibited significantly shorter ramus and body lengths and larger symphyseal angles than controls (all P < 0.001). Patients with isolated RS had shorter body lengths (P < 0.001), while syndromic patients had shorter ramus and body lengths (both P < 0.001) than controls. Seventy RS patients underwent MDO. Pre-MDO (n = 37) and post-MDO (n = 29) mandibular measurements were compared between patients undergoing MDO with a vertical vector and those undergoing MDO with a horizontal vector. Polysomnography data from part of the cohort highlighted the effectiveness of both vectors. MDO with a horizontal vector conferred 11% and 36% increases in ramus and body length, respectively, while these increases were 34% and 27.5%, respectively, with a vertical vector. MDO with a vertical vector was effective in lengthening ramus and body components and should be considered in the presence of ramus hypoplasia.


Subject(s)
Airway Obstruction , Osteogenesis, Distraction , Pierre Robin Syndrome , Humans , Infant , Cohort Studies , Retrospective Studies , Osteogenesis, Distraction/methods , Mandible/abnormalities , Polymers , Treatment Outcome
12.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-995080

ABSTRACT

This article reported the genetic analysis of a case diagnosed with fetal micrognathia and cleft palate by mid-trimester ultrasound in two consecutive pregnancies. In the first pregnancy, the pregnant woman delivered a full-term boy transvaginally, who died two weeks after birth and was diagnosed with Pierre Robin sequence (PRS). Chromosome karyotype and genomic copy number variation. In the second pregnancy, the woman underwent amniocentesis due to suspected PRS presenting by fetal cleft palate, micrognathism, and additional ultrasound anomalies. No abnormalities were detected in fetal karyotype or genomic copy number variation. Whole-exome sequencing, bioinformatics analysis, and Sanger sequencing suggested that both the fetus and the firstborn boy inherited a possible pathogenic variant of c.79delG p.E27Sfs*24 in the BMP2 gene from the mother. The pregnancy was terminated after the genetic consultation. Fetal phenotypes in the two fetuses were similar, indicating that short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaly in the pedigree were caused by the heterozygous variant of c.79delG p.E27Sfs*24 in the BMP2 gene.

13.
Iberoam. j. med ; 5(1): 46-50, 2023. graf
Article in English | IBECS | ID: ibc-226655

ABSTRACT

Pierre Robin sequence (PRS) is an inherited disorder that affects one in between 8,500 and14,000 people and is characterized by a triad of clinical signs. These include micrognathia,glossoptosis and obstruction of the upper airway, typically associated with palatal cleft.PRS has also been associated with various ocular complications, including high congenitalmyopia, congenital glaucoma, and retinal detachment.Because of the clinical importance of PRS, it is critical to illustrate the features of the Robinsequence to clearly define its primary and secondary clinical signs. We describe a patientwith PRS who developed keratoconus as a rare manifestation of the disease and its management. (AU)


La secuencia de Pierre Robin (PRS) es una patología hereditaria que afecta a una de entre8.500 y 14.000 personas y está caracterizada por una triada de signos. Estos incluyenmicrognatia, glosoptosis y obstrucción de vías aéreas altas, típicamente asociados a labioleporino.PRS ha sido también relacionado con afectación oftalmológica, incluyendo miopía congénita,glaucoma congénito o desprendimiento de retina.Debida a la importancia clínica de la PRS, es fundamental describir las distintascaracterísticas de la secuencia Pierre Robin, para así definir los signos principales ysecundarios de la patología. Describimos el caso de una paciente con PRS que desarrollóqueratocono como una extraña manifestación de la enfermedad. (AU)


Subject(s)
Humans , Female , Young Adult , Pierre Robin Syndrome/classification , Keratoconus , Corneal Topography , Cornea
14.
Orbit ; : 1-3, 2022 Oct 28.
Article in English | MEDLINE | ID: mdl-36305558

ABSTRACT

Pierre-Robin sequence consists of a classical triad of micrognathia, glossoptosis, and upper airway obstruction. The common ocular manifestations include congenital glaucoma, high myopia, maculopathy, and retinal detachment. Except for a mention of a nasolacrimal duct obstruction without many details, lacrimal drainage anomalies have not been reported earlier to the best of the authors' knowledge. The present case describes several lacrimal drainage anomalies including supernumerary puncta, canalicular wall hypoplasia, grossly dilated nasolacrimal duct, and complex congenital nasolacrimal duct obstruction in a patient of Pierre Robin sequence. The patient was successfully managed with endoscopic guided probing and marsupialization of the large intranasal cyst resulting in a complete resolution of epiphora.

15.
Braz J Otorhinolaryngol ; 88 Suppl 1: S133-S141, 2022.
Article in English | MEDLINE | ID: mdl-34092522

ABSTRACT

INTRODUCTION: Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce. OBJECTIVE: The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis. METHODS: This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p < 0.05. RESULTS: Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p < 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p < 0.05). CONCLUSION: Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.


Subject(s)
Nasal Obstruction , Pierre Robin Syndrome , Sleep Apnea, Obstructive , Sleep Wake Disorders , Child , Humans , Nasal Obstruction/complications , Cross-Sectional Studies , Prospective Studies , Sleep Wake Disorders/etiology , Sleep Apnea, Obstructive/complications
16.
Arch. méd. Camaguey ; 26: e8641, 2022. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1403284

ABSTRACT

RESUMEN Introducción: La secuencia malformativa de Pierre Robin se caracteriza clínicamente por micrognatia, glosoptosis, obstrucción de la vía aérea superior y con frecuencia fisura palatina, donde se pone en riesgo la vida del neonato. Objetivo: Presentar un caso de un recién nacido con diagnóstico de la secuencia de Pierre Robin atendido en el Hospital Universitario Gineco-Obstétrico Mariana Grajales de la ciudad de Santa Clara, Cuba. Caso clínico: Paciente femenino de piel blanca a término y bajo peso, se constató en la exploración física neonatal marcado micrognatismo y retrogmatismo, al examen bucal se observó glosoptosois y fisura del paladar, patrón dismórfico propio de la secuencia malformativa de Pierre Robin. Se indicó tratamiento conservador mediante el reposo en decúbito prono y alimentación enteral por biberón en posición semisentada, colocación de obturador palatino y seguimiento en consulta por las especialidades involucradas. Con una evolución satisfactoria fue egresado del centro hospitalario. Conclusiones: Con un tratamiento conservador y la participación interdisciplinaria de distintas especialidades médicas y estomatológicas, se logró un resultado satisfactorio en el neonato.


ABSTRACT Introduction: The Pierre Robin's malformative sequence is clinically characterized by micrognathia, glossoptosis, upper airway obstruction and frequently cleft palate, which can be life-threatening. Objective: To present a case of a newborn diagnosed with the Pierre Robin's malformative sequence attended at the Mariana Grajales Gyneco-Obstetric University Hospital of the Villa Clara province. Case report: A white female patient, term and low weight was attended. A marked micrognathism and retrogmatism is observed in neonatal physical examination, oral examination showed glossoptosis, and palatine fissure, dysmorphic pattern typical of Pierre Robin's malformative sequence. The neonate was evaluated by different specialties. Conservative treatment was indicated through the prone position and enteral bottle feeding in a semi-seated position, placement of palatal plate and follow-up by consultation of the specialities involved. The patient left the hospital with a satisfactory evolution. Conclusions: With conservative treatment and interdisciplinary participation of different medical and dentistry specialties a satisfactory result is achieved in the neonate.

17.
Braz. j. otorhinolaryngol. (Impr.) ; 88(supl.1): 133-141, 2022. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1420816

ABSTRACT

Abstract Introduction Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce. Objective The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis. Methods This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p< 0.05. Results Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p< 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p< 0.05). Conclusion Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.


Resumo Introdução A apneia obstrutiva do sono apresenta elevada prevalência na população com sequência de Pierre Robin não sindrômica. Estudos constataram provável relação entre apneia obstrutiva do sono e obstrução nasal e entre apneia obstrutiva do sono e enurese, é escassa a avaliação da relação entre essas variáveis na sequência de Pierre Robin não sindrômica. Objetivo Avaliar a relação entre sintomas de apneia obstrutiva do sono, obstrução nasal e enurese, determinar a prevalência de sintomas sugestivos dessas condições, em crianças em idade escolar com sequência de Pierre Robin não sindrômica, assim como descrever a prevalência de sonolência excessiva diurna, ronco habitual e sintomas de disfunção miccional associados à enurese. Método Estudo prospectivo transversal analítico desenvolvido em centro de referência. Fez‐se aferição antropométrica e entrevista clínica estruturada em amostra de 48 pacientes. Os instrumentos usados foram: "escala de distúrbios do sono em crianças", questionário "índice de congestão nasal" (CQ‐5) e questionário "sistema de escore de disfunção miccional". A análise estatística foi feita para p < 0,05. Resultados Escores positivos da "escala de distúrbios do sono em crianças" para apneia obstrutiva do sono e do CQ‐5 para obstrução nasal foram observados em 38,78% e 16,33%; respectivamente. Enurese foi relatada em 16,33% das crianças e foi caracterizada como primária em 71,43% e polissintomática em 55,55%; conforme "sistema de escore de disfunção miccional". Observou‐se relação significante entre obstrução nasal e sintomas de apneia obstrutiva do sono (p < 0,05), porém não significante entre sintomas de apneia obstrutiva do sono e enurese, e obstrução nasal e enurese. A prevalência de sonolência excessiva diurna foi de 12,24% e de ronco habitual, de 48,98%. História familiar de enurese, menor idade em anos e escore positivo na "sistema de escore de disfunção miccional" foram associados a maior prevalência de enurese (p < 0,05). Conclusão Crianças com sequência de Pierre Robin não sindrômica estão sob alto risco para sintomas de apneia obstrutiva do sono e ronco habitual, foi observada correlação entre obstrução nasal e sintomas de apneia obstrutiva do sono. Demonstrou‐se, também, que sequência de Pierre Robin não sindrômica, sintomas de apneia obstrutiva do sono e obstrução nasal não constituíram fator de risco para enurese na população estudada.

18.
Semin Fetal Neonatal Med ; 26(6): 101288, 2021 12.
Article in English | MEDLINE | ID: mdl-34688586

ABSTRACT

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.


Subject(s)
Pierre Robin Syndrome , Humans , Infant , Parents , Pierre Robin Syndrome/therapy , Quality of Life
19.
Semin Fetal Neonatal Med ; 26(6): 101293, 2021 12.
Article in English | MEDLINE | ID: mdl-34561176

ABSTRACT

OBJECTIVE: To study the role of upper airway endoscopy (UAE) in craniofacial malformations in all different management approaches described in the literature. METHODS: A narrative review was performed, based on a search in pubmed. RESULTS: UAE use was reviewed over five domains: 1) Diagnosis of glossoptosis and endoscopic classification: drug-induced sleep endoscopy is recommended to graduate tongue base obstruction; there is still no consensus on the graduation system to be used. 2) Airway abnormalities: there is a high incidence of additional lesions in conjunction with glossoptosis. 3) Swallowing evaluation: a formal comparison with fluoroscopy (gold standard) has not yet been performed in this population. 4) Intubation: thin bronchoscopes allow intubation of small babies; moreover, intubation with rigid video-assisted laryngoscopes show a high success rate in this population. 5) Treatment outcome monitoring: there is no consensus on the ideal parameters to be checked. CONCLUSION: Some approaches have already been well established in the management of patients with craniofacial malformations, e.g. the endocopic evaluation of glossoptosis and associated lesions and its role as an intubation assistance tool, while others need to be subject of further research, e.g. its role in swallowing investigation and as a postoperative success control predictor.


Subject(s)
Airway Obstruction , Pierre Robin Syndrome , Airway Obstruction/etiology , Endoscopy , Humans , Infant , Intubation, Intratracheal , Laryngoscopy , Nose
20.
Heliyon ; 7(9): e07957, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34541358

ABSTRACT

OBJECTIVE: This case-control study was conducted to determine the distribution of cleft lip and/or palate, its association with family history, syndromes and serous otitis media (SOM), and its relation with several risk factors. METHODS: The case group comprised of 133 children born with cleft lip and/or palate, and the control was 133 non-cleft children born full-term. Data was collected including age, gender, origin and risk factors for cleft lip and palate from patients' files, interviewing supervising doctors, and the patient. Data was then filled out into Excel and underwent statistical analysis using the Goodness of Fit Test and Chi-Square to determine the significance of the results. RESULTS: Cleft lip and/or palate (CL/P) was slightly higher among males (51.9%). Combined cleft lip and palate (CLP) was the most common presentation (42.1%). Cleft lips (CL) were mostly complete cleft (51,5%) incomplete cleft comprised (41.1%), In the sample 35.4% of the cases were bilateral, 32.3% were right unilateral, 28.3% were left unilateral and 4% were median cleft. Cleft palate (CP) was mostly complete (46.6%) there were incomplete clefts (40%), and the remainder were submucosal (13.4%). Isolated CL and combined CLP were higher in males (51.6%, 62.5% respectively). Both isolated CP and Tessier anomaly were more common in females (64.7% and 58.3% respectively). consanguineous marriages accounted for 36.1% of cases. 21.8% of the sample had a first-degree relative and 24.8% had a second degree relative born with CL/P. There were only 7 cases (0.05%) of syndromic CL/P: Down's (4), Pierre Robin's (2), and Van der Woude Syndrome (1). A relationship was found between CL/P and the risk factors: taking anticonvulsants (without specifying the drug) (p = 0.025, OR = 10.73 C.I. 95%), taking retinoic acid (p-value = 0.049, OR = 4.75 C.I. 95%), not consuming folic acid (p-value = 0.00, OR = 28.23 C.I. 95%), and smoking cigarettes (p-value = 0.046, OR = 2.00 C.I. 95%). There was no relationship with maternal alcohol consumption or maternal diabetes (p-values = 0.652 and 0.210, respectively). SOM was present in 63.2% of patients with CL/P and were mostly isolated CP. CONCLUSION: CL/P was only slightly higher among males. The most common condition was CLP. There was higher incidence of CL/P among second-degree relatives than first degree. Down's, Pierre Robin's, and Van der Woude Syndromes may be associated with CL/P. Taking anticonvulsants, taking retinoic acid, not consuming folic acid, and smoking cigarettes all have a role in the incidence of CL/P. More than half of the sample had an associated SOM.

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