RESUMO
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 ± 2.8â kg/m2), neck (33.2 ± 2.3â cm), and waist circumferences (72.0 ± 5.8â 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 (P ≤ .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.
Assuntos
Obstrução Nasal , Síndrome de Pierre Robin , Retrognatismo , Apneia Obstrutiva do Sono , Adolescente , Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Estudos Transversais , Obstrução Nasal/complicações , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Estudos Prospectivos , Retrognatismo/complicações , Fatores de Risco , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/etiologia , RoncoRESUMO
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.
Assuntos
Humanos , Masculino , Criança , Síndrome de Pierre Robin/cirurgia , Síndrome de Pierre Robin/complicações , Fissura Palatina/cirurgia , Fissura Palatina/complicações , Obstrução das Vias Respiratórias/cirurgia , Nervo Pudendo , Anestesia por Condução/efeitos adversos , Bloqueio Nervoso/efeitos adversosRESUMO
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.
Assuntos
Transtornos de Deglutição , Osteogênese por Distração , Síndrome de Pierre Robin , Humanos , Criança , Lactente , Resultado do Tratamento , Transtornos de Deglutição/terapia , Transtornos de Deglutição/complicações , Deglutição , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/cirurgia , Osteogênese por Distração/métodos , Estudos RetrospectivosRESUMO
BACKGROUND: The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as a predisposition to present changes in growth and neuropsychomotor development in the first years of life. OBJECTIVE: The aims were to evaluate and associate the neuropsychomotor development of zero- to 12-month-old children with Pierre Robin sequence (PRS) in the personal-social, fine motor-adaptive, language, and gross motor aspects. METHODS: The subjects of the study were 17 infants of both sexes with PRS admitted to the special care unit (SCU) of a reference hospital in the interior of the state of São Paulo, Brazil, in the age range of 20 days to 263 days. Developmental assessments were performed using the Denver Development Screening Test II. The evaluations were carried out in the SCU, with duration of 30 minutes each. Statistical analysis was descriptive using the Mann-Whitney test, two-proportion equality test, and Spearman correlation. The level of significance was set at 0.05. RESULTS: According to Denver Development Screening Test II, median 78.5 of the babies were at risk for developmental delay identified by the Denver II Test (n = 14, 82.4%). For the developmental areas analyzed by the test there was statistically significant difference in language area. CONCLUSION: The babies aged up to 12 months with PRS in this study presented risks for delay in neuropsychomotor development in language, gross motor, fine motor-adaptive, and personal-social aspects, and this finding should be considered to set goals in family orientation and intervention.
Assuntos
Síndrome de Pierre Robin , Lactente , Recém-Nascido , Masculino , Criança , Feminino , Humanos , Idoso , Síndrome de Pierre Robin/complicações , Brasil , Idioma , Estudos RetrospectivosRESUMO
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.
Assuntos
Obstrução das Vias Respiratórias , Anestesia por Condução , Fissura Palatina , Bloqueio Nervoso , Síndrome de Pierre Robin , Nervo Pudendo , Masculino , Humanos , Criança , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/cirurgia , Obstrução das Vias Respiratórias/cirurgia , Bloqueio Nervoso/efeitos adversos , Anestesia por Condução/efeitos adversos , Fissura Palatina/complicações , Fissura Palatina/cirurgiaRESUMO
Pierre Robin sequence (PRS) is a condition consisting of three essential components: micrognathia or retrognathia, cleft palate, and glossoptosis. It can be part of multiple congenital anomalies. We present the case and outcome of a 3-month-old clinically stable patient who has PRS with Dandy-Walker variant which is a rare presentation in the literature with a large right hemispheric brain abscess, treated with multiple minimally-invasive surgical drainage procedures with adjuvant antibiotics.
Assuntos
Humanos , Feminino , Lactente , Síndrome de Pierre Robin/cirurgia , Abscesso Encefálico/cirurgia , Abscesso Encefálico/tratamento farmacológico , Síndrome de Dandy-Walker/cirurgia , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Abscesso Encefálico/diagnóstico por imagem , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Síndrome de Dandy-Walker/diagnóstico por imagemRESUMO
OBJECTIVES/HYPOTHESIS: Robin sequence (RS) consists of associated micrognathia, glossoptosis, and respiratory dysfunction, with or without cleft palate. Studies on how different patient characteristics impact the severity of respiratory dysfunction are scarce and contradictory; this study investigates how different features affect respiratory obstruction severity at diagnosis of RS in controlled analysis. STUDY DESIGN: Retrospective cohort study that enrolled 71 RS patients under 90 days old who received care in our institution from 2009 to 2020. METHODS: The primary outcome, respiratory dysfunction, was categorized into four severity groups and analyzed using a multinomial logistic regression model that considered age, sex, mandible length, cleft palate, syndromic diagnosis, other airway anomalies, and degree of glossoptosis. RESULTS: Mandible length, syndromic diagnosis, and Yellon grade 3 glossoptosis were related to poorer respiratory outcomes (need for respiratory support). In univariate analysis, for each additional 1 mm of mandible length at diagnosis, a mean reduction of 28% in the risk of needing respiratory support was observed (OR = 0.72; 0.58-0.89); syndromic diagnosis and grade 3 glossoptosis also raised the risk (OR = 6.50; 1.59-26.51 and OR = 12.75; 1.03-157.14, respectively). In multivariate analysis, only mandible length significantly maintained its effects (OR = 0.73; 0.56-0.96), a 27% reduction. CONCLUSIONS: Mandible length was an independent predictor for more severe respiratory dysfunction in RS patients, with larger mandibles showing protective effects. Syndromic diagnosis and Yellon grade 3 glossoptosis are also likely to be associated with poorer respiratory outcomes, although this was not demonstrated in multivariate analysis. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2811-2816, 2021.
Assuntos
Glossoptose/complicações , Síndrome de Pierre Robin/complicações , Transtornos Respiratórios/epidemiologia , Feminino , Glossoptose/diagnóstico , Glossoptose/patologia , Humanos , Imageamento Tridimensional , Lactente , Recém-Nascido , Masculino , Mandíbula/diagnóstico por imagem , Mandíbula/patologia , Tamanho do Órgão , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/patologia , Prognóstico , Fatores de Proteção , Transtornos Respiratórios/diagnóstico , Transtornos Respiratórios/etiologia , Estudos Retrospectivos , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios XRESUMO
Introdução: Muitos pacientes portadores de sequência de Pierre Robin (micrognatia, glossoptose e obstrução de via aérea) apresentam o músculo genioglosso alterado, encurtado e retrátil, que impede a protração lingual, mantendo a parte anterior da língua verticalizada e seu volume deslocado em direção posterior. Isso pode corroborar para obstrução supraglótica, dificuldade alimentar e inversão das forças de estímulo do crescimento do corpo mandibular. Métodos: Estudo retrospectivo de pacientes com Pierre Robin tratados entre 2012 e 2017 pela equipe, com descrição da "ortoglossopelveplastia", que propõe uma modificação na glossopexia, soltando o genioglosso anômalo da sua inserção, liberando a língua para elevar seu terço anterior e avançar o volume de sua base, sendo auxiliada por ponto de tração da base lingual à sínfise mandibular. Apresentamos um algoritmo de tratamento proposto que prioriza a necessidade desta cirurgia, associada ou não à distração mandibular, de acordo com a gravidade da dificuldade respiratória e/ou alimentar. Resultados: São apresentados 12 casos de obstrução da orofaringe atendidos de 2012 a 2017, discutem-se suas prioridades, a ortoglossopelveplastia e se aplica o algoritmo proposto. Conclusão: A reorganização anatômica da musculatura em uma posição anteriorizada correta proporciona protração e funcionalidade à língua, com desobstrução da via aérea na orofaringe, melhora da função alimentar e do desenvolvimento mandibular, com baixa morbidade cirúrgica e poucas complicações.
Introduction: Several patients with the Pierre Robin sequence (micrognathia, glossoptosis, and airway obstruction) have an altered, shortened, and retractable genioglossus muscle that prevents protraction of the tongue and keeps the anterior part of the tongue vertical and its volume posteriorly displaced. This can contribute to supraglottic obstruction, feeding difficulty, and inversion of the growth stimulation forces of the mandibular body. Methods: A retrospective study of patients with the Pierre Robin sequence treated between 2012 and 2017 with "orthoglossopelveplasty," which includes modification of glossopexy, releasing the anomalous genioglossus of its insertion and releasing the tongue to raise its anterior third and advance the volume of its base using a traction suture of the tongue base to the mandible symphysis. We present a treatment algorithm that prioritizes the need for surgery associated, or not, with mandibular distraction in accordance with respiratory and/or feeding difficulty severity. Results: Twelve cases of oropharyngeal obstruction treated from 2012 to 2017 are presented, their priorities and orthoglossopleoplasty are discussed, and the proposed algorithm is applied. Conclusion: Anatomical reorganization of the musculature in a correct anterior position provides protraction and functionality to the tongue, clears the airway in the oropharynx, and improves the feeding function and mandibular development, with low surgical morbidity rates and few complications.
Assuntos
Humanos , Síndrome de Pierre Robin/cirurgia , Síndrome de Pierre Robin/complicações , Osteogênese por Distração/métodos , Doenças do Nervo Glossofaríngeo/cirurgia , Doenças do Nervo Glossofaríngeo/complicações , Obstrução das Vias Respiratórias/cirurgia , Obstrução das Vias Respiratórias/complicações , Obstrução das Vias Respiratórias/diagnóstico , Glossoptose/cirurgia , Glossoptose/patologia , Micrognatismo/cirurgia , Micrognatismo/complicações , Soalho Bucal/anormalidades , Soalho Bucal/cirurgiaRESUMO
OBJECTIVE: The objective was to investigate dental phenotypes in individuals with non-syndromic Pierre Robin Sequence (ns-PRS) and compare the prevalence of these phenotypes with subjects with non-syndromic cleft palate (ns-CP) and a control group with subjects without any craniofacial anomalies. METHODS: A total of 760 panoramic radiographs of 330 individuals (110 with ns-PRS; 110 with ns-CP and 110 without any malformations) were digitized and evaluated regarding the diagnosis of taurodontism, tooth agenesis, root dilaceration and tooth transposition. Chi-square test was applied to compare the occurrence of dental phenotypes between groups. A P value of less than 0.05 was considered statistically significant. RESULTS: Total prevalence of dental phenotypes was 94.5% of ns-PRS; 54.5% of ns-CP and 59.1% of the control group subjects with a statistically significant difference for the ns-PRS when compared to the other two groups. Two dental phenotypes, taurodontism and dental agenesis were identified with statistically significant higher prevalences in subjects with ns-PRS when compared with the ns-CP group and the control group (p < 0.001). Taurodontism was the most prevalent dental phenotype, with 92.73% in the ns-PRS group, 40.91% for ns-CP and 44.55% in the control group. Tooth agenesis had a prevalence of 22.7% for ns-PRS, 4.5% for ns-CP and no case in the control group. For the prevalence of root dilaceration and tooth transposition, no statistically significant differences were observed between the three groups. CONCLUSIONS: Due to the high frequency of taurodontism in individuals with ns-PRS, we suggested that this novel phenotype would be important in the phenotypic screening of ns-PRS and could be considered as a phenotype associated with ns-PRS.
Assuntos
Anodontia/diagnóstico por imagem , Anodontia/etiologia , Cavidade Pulpar/anormalidades , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico por imagem , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adolescente , Criança , Cavidade Pulpar/diagnóstico por imagem , Feminino , Humanos , Masculino , Fenótipo , Prevalência , Radiografia Panorâmica , Estudos Retrospectivos , Raiz Dentária/anormalidades , Raiz Dentária/diagnóstico por imagemRESUMO
OBJECTIVES/HYPOTHESIS: To assess the performance of endoscopic grading systems of glossoptosis in identifying severe clinical manifestations in children with Robin sequence (RS). STUDY DESIGN: Nested cohort cross-sectional study. METHODS: All RS patients diagnosed at Hospital Clinics of Porto Alegre from October 2012 to June 2016 were enrolled in this cohort. Patients underwent sleep endoscopy and were classified according to Yellon (Y) and de Sousa et al. (S) scales. Symptom severity evaluation was performed as defined by Cole et al. The outcome of interest was Cole's clinical classification grade 3. RESULTS: Eighty patients were eligible for analysis. Sensitivity (Y: 56.2%, S: 28.1%, P < .001) and specificity (Y: 85.4%, S: 93.8%, P = .038) in identifying severe clinical symptoms patients (i.e., Cole grade 3) were statistically different between Y and S classifications. A low but significant overall correlation was observed for both Y (rho = 0.372, P < .001) and S (rho = 0.439, P < .001) classifications when compared with Cole classification. Diagnostic odds ratio (DOR) for Y (DOR: 7.53, 95% confidence interval [CI]: 4.15-10.90) and S (DOR: 5.87, 95% CI: 1.86-9.87) were equivalent (P = .92). Also, receiver operating characteristic curves area under the curve were not significantly different between them. The positive likelihood ratio was 3.86 (95% CI: 1.82-8.16) and 4.50 (95% CI: 1.32-15.36) for Y and S, respectively. CONCLUSIONS: Y and S grading systems showed a low sensitivity and moderate to high specificity in detecting patients with severe clinical manifestations. Correlation between Y/S and Cole et al. grading were also considered low. Development of a more discriminative anatomic grading system is still needed for this specific disorder. LEVEL OF EVIDENCE: 2b. Laryngoscope, 128:502-508, 2018.