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BACKGROUND: We investigated how syndromic versus nonsyndromic forms of micrognathia impacted difficult intubation outcomes in children. Primary outcome was the first-attempt success rate of tracheal intubation, secondary outcomes were number of intubation attempts and complications. We hypothesized that syndromic micrognathia would be associated with lower first-attempt success rate. METHODS: In micrognathic patients enrolled in the Pediatric Difficult Intubation Registry (08/2012-03/2019) we retrospectively compared demographic and clinical characteristics between children with nonsyndromic and syndromic micrognathia using standardized mean differences (SMD) and assessed the association of the presence of syndrome with the primary and secondary outcomes using propensity score matching analysis with and without matching for airway assessment findings. RESULTS: Nonsyndromic patients (628) were less likely to have additional airway abnormalities. Syndromic patients (216) were less likely to have unanticipated difficult intubation (2% vs. 20%, SMD 0.59). First-attempt success rates of intubation were: 38% in the syndromic versus 34% in the nonsyndromic group (odds ratio [OR] 1.18; 95% confidence intervals [95% CI] 0.74, 1.89; p = .478), and 37% versus 37% (OR 0.99; 95% CI 0.66, 1.48; p = .959). Median number of intubation attempts were 2 (interquartile range [IQR]: 1, 3; range: 1, 8) versus 2 (IQR: 1, 3; range 1, 12) (median regression coefficient = 0; 95% CI: -0.7, 0.7; p = .999) and 2 (IQR: 1, 3; range: 1, 12) versus 2 (IQR: 1, 3; range 1, 8) (median regression coefficient = 0; 95% CI: -0.5, 0.5; p = .999). Complication rates were 14% versus 22% (OR 0.6; 95% CI 0.34, 1.04; p = .07) and 16% versus 21% (OR 0.71; 95% CI 0.43, 1.17; p = .185). CONCLUSIONS: Presence of syndrome was not associated with lower first-attempt success rate on intubation, number of intubation attempts, or complication rate among micrognathic patients difficult to intubate, despite more associated craniofacial abnormalities. Nonsyndromic patients were more likely to have unanticipated difficult intubations, first attempt with direct laryngoscopy.
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Micrognatismo , Criança , Humanos , Estudos Retrospectivos , Intubação Intratraqueal , Laringoscopia , Sistema de RegistrosRESUMO
BACKGROUND: Robin Sequence (RS) infant patients may require mandibular distraction osteogenesis (MDO) to improve airway. The distracted mandible may grow vertically and the developing dentition may be disrupted. PURPOSE: The study purpose was to measure the association of MDO on craniofacial morphology and tooth development in RS subjects. STUDY DESIGN, SETTING, SAMPLE: This was a retrospective cohort study of RS infants treated with/without MDO. Inclusion criteria were RS diagnosis, complete imaging, and treatment at our pediatric regional hospital. Exclusion criteria were treatment elsewhere and insufficient imaging. EXPOSURE VARIABLE: Exposure was airway management; subjects were grouped by use of MDO or not. Subjects were compared to age-matched normal infants presurgically and to age-matched normal controls at follow-up. MAIN OUTCOME VARIABLES: Main outcome variables were craniofacial morphology measured using cephalometric gonial angle and ramus height to mandibular body length ratio presurgically (T1), postsurgically (T2), and at the mixed dentition (T3). Disrupted tooth development was assessed by absence/abnormality of teeth on radiographs at T3. COVARIATES: Covariates were age, sex, body mass index, comorbidities, and cephalometric measurements. ANALYSES: Appropriate univariate, bivariate, and regression models were computed, and significance level was set at P < .05. RESULTS: The sample contained 14 RS-MDO subjects with median age of 1.1 months and 10 (71.4%) were female. Presurgery, RS-MDO subjects had significantly more obtuse gonial angles (145° vs 137°, P = .04) and shorter mandibular bodies (32 vs 41 mm, P < .01) than the 37 unaffected controls. Increased ramus height (P < .01) and mandibular body length (P < .01) and forward rotation of the mandible were seen in 12 subjects with post-MDO imaging compared to their presurgical condition. At mixed dentition, 12 post-MDO subjects had more obtuse gonial angles (P < .01) and steeper mandibular planes (P < .01) than 19 non-MDO RS subjects. Both RS groups had different cephalometric values and more vertical measures than matched cephalometric norms. Thirty-one percent of 12 RS-MDO subjects had ≥1 teeth with abnormal development compared to none of 19 RS subjects without MDO (P = .02). CONCLUSION AND RELEVANCE: MDO increased mandibular size in infants but can disrupt the developing dentition. Postdistraction growth may result in more vertical mandibular morphology with large gonial angles.
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OBJECTIVE(S): To estimate nutritional status in a large cohort of infants with orofacial clefts in the US, overall and by cleft type from birth to 6 months of age. STUDY DESIGN: We conducted a cross-sectional study in infants with orofacial clefts by examining growth by month between birth and 6 months of age. Infants with at least one weight measurement at a single US regional tertiary care pediatric hospital with an interdisciplinary cleft team between 2010 and 2020 were included. We calculated the average weight-for-age z scores and weight-for-length z scores. We calculated the proportion of infants underweight and wasting with z scores below -2 SDs monthly from birth to 6 months of age. We used t tests to compare the distribution of weight for age z-score and weight for length z-score among children with orofacial clefts to a normal distribution. RESULTS: We included 883 infants with orofacial clefts. Compared with expected proportion of underweight infants (2.3%), a larger proportion of infants with orofacial clefts were underweight between birth and 1 month (10.6%), peaking between 2 and 3 months (27.1%), and remaining high between 5 and 6 months (16.3%). Compared with the expected proportion of infants with wasting (2.3%), a higher proportion of infants with orofacial clefts experienced wasting between birth and 1 month (7.3%), peaking between 2 and 3 months (12.8%), and remaining high between 5 and 6 months (5.3%). Similar findings were observed for all cleft types and regardless of comorbidities. CONCLUSION(S): A substantial proportion of infants with orofacial clefts compared with normative peers have malnutrition in the first 6 months of life in the US.
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Fenda Labial , Fissura Palatina , Humanos , Lactente , Criança , Fenda Labial/complicações , Fenda Labial/epidemiologia , Fissura Palatina/complicações , Fissura Palatina/epidemiologia , Estudos Transversais , Estado Nutricional , MagrezaRESUMO
OBJECTIVES: Few evidence-based psychosocial programs exist within craniofacial care. This study (a) assessed feasibility and acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) intervention among caregivers of children with craniofacial conditions and (b) described barriers and facilitators of caregiver resilience to inform program adaptation. DESIGN: In this single-arm cohort study, participants completed a baseline demographic questionnaire, the PRISM-P program, and an exit interview. PARTICIPANTS: Eligible individuals were English-speaking legal guardians of a child <12-years-old with a craniofacial condition. INTERVENTION: PRISM-P included 4 modules (stress-management, goal-setting, cognitive-restructuring, meaning-making) delivered in 2 one-on-one phone or videoconference sessions 1-2 weeks apart. MAIN OUTCOME MEASURES: Feasibility was defined as >70% program completion among enrolled participants; acceptability was defined as >70% willingness to recommend PRISM-P. Intervention feedback and caregiver-perceived barriers and facilitators of resilience were summarized qualitatively. RESULTS: Twenty caregivers were approached and 12 (60%) enrolled. The majority were mothers (67%) of a child <1-year-old diagnosed with a cleft lip and/or palate (83%) or craniofacial microsomia (17%). Of these, 8 (67%) completed PRISM-P and 7 (58%) completed interviews; 4 (33%) were lost-to-follow-up before PRISM-P and 1 (8%) before the interview. Feedback was highly positive, with 100% willing to recommend PRISM-P. Perceived barriers to resilience included uncertainty about their child's health; facilitators included social support, parental identity, knowledge, and control. CONCLUSIONS: PRISM-P was acceptable among caregivers of children with craniofacial conditions but not feasible based on program completion rates. Barriers and facilitators of resilience support the appropriateness of PRISM-P for this population and inform adaptation.
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Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.
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Artrite/genética , Fenda Labial/genética , Fissura Palatina/genética , Doenças do Tecido Conjuntivo/genética , Perda Auditiva Neurossensorial/genética , Síndrome de Pierre Robin/genética , Descolamento Retiniano/genética , Artrite/diagnóstico por imagem , Artrite/mortalidade , Artrite/patologia , Criança , Pré-Escolar , Fenda Labial/diagnóstico por imagem , Fenda Labial/mortalidade , Fenda Labial/patologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/mortalidade , Fissura Palatina/patologia , Doenças do Tecido Conjuntivo/diagnóstico por imagem , Doenças do Tecido Conjuntivo/mortalidade , Doenças do Tecido Conjuntivo/patologia , Feminino , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/mortalidade , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Masculino , Síndrome de Pierre Robin/diagnóstico por imagem , Síndrome de Pierre Robin/mortalidade , Síndrome de Pierre Robin/patologia , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/mortalidade , Descolamento Retiniano/patologia , Estudos RetrospectivosRESUMO
BACKGROUND: Direct laryngoscopy and intubation are often difficult in children with Robin Sequence. Previous research characterizing anatomic airway differences has focused on parameters influencing airway patency; there is a paucity of data pertaining to intubation trajectories and depth. Such information could impact airway management approaches and decrease the incidence of endotracheal tube malpositioning. AIM: The study goal was to examine whether longitudinal airway parameters pertaining to intubation are different in children with Robin Sequence compared with age-matched controls. METHOD: This case-control study compared patients with RS <4 years of age who had computed tomography scans of the head and neck to age- and sex-matched controls. Measurements were made of the nasopharynx, oropharynx, hypopharynx, tongue, hyoid, and the front teeth to vocal cord, nares to vocal cord, and nasion-basion distances. Statistical analysis was performed using multiple ANCOVA models with the categorical predictor of Robin Sequence vs control and potential covariates including subject height/length, weight, and age. RESULTS: Thirty-three patients with Robin Sequence and 33 control subjects were included. After controlling for subject height/length, mean front teeth to vocal cord distance was 1.2 cm longer (95% CI: 0.9 to 1.6 cm, P < .001) and mean nares to vocal cord distance was 0.8 cm longer (95% CI: 0.4 to 1.2 cm, P < .001) in patients with Robin Sequence than in controls. The tongue was positioned on average 0.5 cm higher (95% CI: 0.3 to 0.8, P < .001) and 0.9 cm more posterior (95% CI: 0.6 to 1.0 cm, P < .001) in cases than in controls. Moreover, in patients with Robin Sequence, the hyoid was positioned on average 0.5 cm more inferiorly (95% CI: 0.2 to 0.8 cm, P < .001) and 0.2 cm more posteriorly (95% CI: 0.1 to 0.4 cm, P < .01) than controls. CONCLUSION: In patients with Robin Sequence under 4 years of age, the mean front teeth to vocal cord distance was found to be 1.2 cm longer while the mean nares to vocal cord distance was found to be 0.8 cm longer controlling for subject length. Clinicians should account for these differences when selecting and placing endotracheal tubes, particularly those with a preformed bend.
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Laringe , Síndrome de Pierre Robin , Estudos de Casos e Controles , Criança , Humanos , Intubação Intratraqueal , Síndrome de Pierre Robin/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To evaluate changes in mandibular morphology in infants with Robin sequence (RS) after mandibular distraction osteogenesis (MDO) and compare the post-distraction morphology with that in infants without RS and infants with RS who had not undergone MDO. MATERIALS AND METHODS: Infants with RS treated with MDO were retrospectively evaluated over a 12-year period. All patients had pre-distraction and end-consolidation maxillofacial computed tomograms. Morphologic features of the mandible were divided into ramus and condyle, body and symphysis, and composite measurements. Post-distraction RS mandibular morphology was compared with pre-distraction morphology, as well as to age-matched infants without RS and age-matched infants with RS who had not undergone MDO. Comparisons were done using nonparametric paired-samples analyses. RESULTS: During the study period, 17 patients with RS treated with MDO met the inclusion criteria for the study. The mean ages at distraction and end-consolidation were 1.95 ± 3.24 and 8.46 ± 5.99 months, respectively. The post-MDO mandible was significantly different from the pre-MDO mandible with regard to the ramps-condyle unit and body-symphysis measurements, including development of a more parabolic mandibular arch form (P ≤ .001). Compared with age-matched non-RS infant mandibles, the post-distraction RS mandibles had similar morphologies. Compared with age-matched non-MDO RS mandibles, the post-distraction mandibles had significantly different morphologies anterior to the gonial angle, including a more parabolic arch form (P ≤ .006). CONCLUSIONS: MDO normalized mandibular morphology in infants with RS, with the greatest effect on measurements anterior to the gonial angle.
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Mandíbula/anormalidades , Mandíbula/cirurgia , Osteogênese por Distração/métodos , Síndrome de Pierre Robin/cirurgia , Feminino , Humanos , Lactente , Masculino , Mandíbula/diagnóstico por imagem , Síndrome de Pierre Robin/diagnóstico por imagem , Síndrome de Pierre Robin/fisiopatologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Pierre Robin Sequence (PRS) can be associated with skeletal dysplasias, presenting with craniocervical instability and devastating spinal injury if unrecognized. The authors present the case of an infant with PRS and a type II collagenopathy who underwent multiple airway-securing procedures requiring spinal manipulation before craniocervical instability was identified. This resulted in severe cervical cord compression due to odontoid fracture and occipitoatlantoaxial instability. This case highlights the importance of early cervical spine imaging and cautious manipulation in infants with PRS and suspected skeletal dysplasia.
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Obstrução das Vias Respiratórias/cirurgia , Articulação Atlantoaxial/lesões , Instabilidade Articular/etiologia , Processo Odontoide/lesões , Osteocondrodisplasias/etiologia , Posicionamento do Paciente/efeitos adversos , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Obstrução das Vias Respiratórias/diagnóstico por imagem , Articulação Atlantoaxial/diagnóstico por imagem , Humanos , Recém-Nascido , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/cirurgia , Imageamento por Ressonância Magnética , Masculino , Processo Odontoide/diagnóstico por imagem , Processo Odontoide/cirurgia , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/cirurgia , Síndrome de Pierre Robin/diagnóstico por imagem , Procedimentos de Cirurgia Plástica/efeitos adversos , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/cirurgia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Robin Sequence (RS) is classically defined as the triad of micrognathia, glossoptosis, and airway obstruction. While there remains significant debate over diagnostic criteria for severity, there is consensus regarding micrognathia as a defining feature of the condition. The purpose of this study was to compare mandibular morphology among infants and children with RS to infants and children without RS using maxillofacial computed tomography. Our hypothesis was that there are discrete morphologic differences between RS and non-RS mandibles. Our goal was to determine if there are defined and measureable differences in RS mandible shape that can be used in defining the sequence. We identified 20 cases with RS and 20 age- and sex-matched controls without RS. Linear, angular, and composite measurements were obtained for each patient. Cases had shorter mandibular sagittal lengths (-27%, p = 0.001), shorter inferior border arc lengths (-11.5%, p = 0.002), steeper gonial angles (+10.5%, p < 0.001), and narrower symphyseal angles (-11.5%, p < 0.001). Mandibular shape in RS was more rounded/elliptical (p < 0.001) and infants with RS had a significantly smaller submental cross-sectional area (-29.4%, p < 0.001). These shape differences anterior to the gonial angle of the mandible appear to be a defining morphologic feature in RS.
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OBJECTIVE: To understand the experience of families with children undergoing cleft surgery following adoption from a country outside the United States. To identify factors, including the timing of surgery, that influence family function throughout the surgical experience. DESIGN: Semistructured qualitative interviews were conducted with parents of internationally adopted children postrepair of cleft lip and/or cleft palate and coded by a multidisciplinary study team. Mixed methods were used to contextualize themes derived from the parent interviews. RESULTS: Twenty parent interviews were conducted, and four core themes were identified: (1) parental anxieties prior to surgery, (2) considerations for the timing of surgery, (3) impact of the surgical experience on the child and family, and (4) modifiable sociocontextual factors. Parents considered a strong child bond with at least one parent and the ability of the child to communicate basic needs to be important before undergoing surgery. In retrospect, parents generally felt that the surgical experience did not have a negative impact on their child or their families and that the surgical experience may have even facilitated bonding and attachment with their child. Acceleration of family bonding was expressed more often by parents of children who were adopted at older than 2 years. CONCLUSIONS: In our study, parents reported that cleft surgery soon after international adoption did not appear to impair child bonding or adjustment. Specific family and provider factors that could optimize the experience for families were identified.
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Criança Adotada , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Relações Pais-Filho , Pré-Escolar , Fenda Labial/psicologia , Fissura Palatina/psicologia , Feminino , Humanos , Masculino , PaisRESUMO
The clinical presentation of microtia varies widely from minimal morphological abnormalities to complete absence of the ear. In this study we sought to identify and characterize sub-groups of microtia using a statistical and a clinical approach. Photographs of 86 ears were classified in relation to all the external ear components. We used cluster analysis and rater's clinical opinion to identify groups with similar phenotypes in two separate analyses. We used Cramer's Phi coefficient of association to assess the similarity among the clinician's groupings as well as among the statistical sub-phenotypic groups and each of the clinician's groupings. The cluster analysis initially divided the 86 ears into a more and a less severe group. The less severe group included two sub-groups that included ears classified as normal and a group that had very few anomalous components. The group of 48 more affected ears all had abnormalities of the helix crus; antihelix-stem, -superior crus and -inferior crus; and antitragus. These were further divided into 4 sub-phenotypes. There was a moderate degree of association among the raters' groupings (Cramer's Phi: 0.64 to 0.73). The statistical and clinical groupings had a lower degree of association (Cramer's Phi: 0.49 to 0.58). Using standardized characterization of structural abnormalities of the ear we identified six distinct phenotypic groups; correlations with clinicians' groupings were moderate. These clusters may represent groups of ear malformations associated with the same etiology, similar time of insult or target cell population during embryonic development. The results will help inform investigations on etiology.
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Microtia Congênita/classificação , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Análise por Conglomerados , Microtia Congênita/diagnóstico , Orelha Externa/anormalidades , Orelha Externa/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , FenótipoRESUMO
BACKGROUND: Little is known about how young children with orofacial cleft grow over time. OBJECTIVE: To characterize longitudinal growth patterns from ages 0 to 36 months in US children with an orofacial cleft. DESIGN: A retrospective cohort study. PARTICIPANTS/SETTING: Children with cleft lip, cleft lip and palate, or cleft palate who were younger than age 36 months at a hospital encounter between 2010 and 2019 (N = 1334) were included. The setting was a US tertiary care children's hospital with a cleft center that serves a 5-state region. MAIN OUTCOME MEASURE: Weight-for-age z scores (WAZ) and length-for-age z scores (LAZ). STATISTICAL ANALYSES PERFORMED: Longitudinal growth patterns were characterized using generalized linear mixed models to estimate mean WAZ and LAZ from age 0 to 36 months. RESULTS: Growth in infants with cleft slowed dramatically during the first 3 to 4 months of life, rebounded with catch-up growth until age 12 months for cleft lip and cleft palate and until age 36 months for cleft lip and palate. When comparing populations, children with any type of cleft demonstrated subpar growth compared with World Health Organization standards. Growth deficits were more common in those with cleft lip and palate and cleft palate compared with those with cleft lip. The intraclass coefficient showed that most of the variability in the WAZ (65%) was between individuals, whereas 35% was within an individual. The intraclass coefficient for LAZ showed that most of the variability in the LAZ (74%) was between individuals, whereas 26% was within an individual. The proportion of variance attributable to cleft type and/or comorbidities accounted for <5% of the variance for WAZ and LAZ. WAZ and LAZ were lower in children with comorbidities than those without comorbidities with cleft and World Health Organization standards. CONCLUSIONS: Infants with cleft lip and palate, cleft palate, and a cleft with comorbidities have higher rates of poor growth than peers with cleft lip and a cleft with no comorbidities, respectively.
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Objective: In the USA, the American Cleft Palate Association-Craniofacial Association (ACPA-CPF) specifies guidelines to ensure craniofacial teams function in a multidisciplinary fashion to provide care in a sequence that mirrors the patient's needs. Among these guidelines is the expectation that teams hold regular multidisciplinary team meetings to discuss patient care. The purpose of this study was to identify factors that contribute to optimal team functioning during these meetings. The impact of the virtual format on meetings was also evaluated. Design: One-hour semi-structured interviews of craniofacial team members, queried on current and ideal team meetings, were conducted from December 2020 - January 2021. Interviews were recorded, transcribed, and coded to identify common themes until thematic saturation was achieved. Setting/Participants: Sixteen team members from three major American craniofacial centers were interviewed virtually. Results: Three major categories were identified as integral to successful meetings: (1) meeting content, (2) meeting processes, and (3) team dynamics. Within these categories are several factors that participants reported as important to optimize their multidisciplinary meetings: key content for discussions, integration of patient perspective, recognition of collaboration in determining proper sequence of treatments, an attentive discussion leader promoting equitable discussions, managing absences, and team diversity. Participants also identified benefits and pitfalls of hosting meetings in the virtual setting, including lack of engagement and awkward communication. Conclusion: Diverse groups of disciplines are expected to come together during craniofacial multidisciplinary meetings to formulate intricate care plans for complex patients. In this study, craniofacial team members have identified several key factors to optimize these meetings. The research group used these factors to propose a self-evaluation instrument for meeting quality improvement, provided in printable format. Further studies should evaluate how implementation of these factors affects meetings and ultimately guides patient care.
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Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest). We present a case series of 33 children with OAFNS ascertained from a comprehensive review of the literature and report an additional retrospective series of eight patients displaying features consistent with OAFNS. Notably, in a subset of our cases, we have observed abnormalities in nasal ossification and bony structures of the maxilla that have not previously described in OAFNS and are not seen in either FND or OAVS. We present the phenotype and novel naso-maxillary findings and explore potential etiologic and developmental pathways for OAFNS. We highlight the differences in phenotypic characteristics of OAFNS compared to OAVS and FND. These observations support the classification of OAFNS as a discrete syndrome. Further phenotypic refinements of OAFNS are needed to understand pathogenesis of this syndrome and the newly described nasal malformation may help identify the etiology.
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Anormalidades Múltiplas/classificação , Anormalidades Craniofaciais/classificação , Orelha Externa/anormalidades , Anormalidades do Olho/classificação , Face/anormalidades , Anormalidades do Sistema Respiratório/classificação , Coluna Vertebral/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Criança , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Orelha Externa/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/genética , Face/diagnóstico por imagem , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Maxila/anormalidades , Osso Nasal/anormalidades , Ossificação Heterotópica , Fenótipo , Radiografia , Anormalidades do Sistema Respiratório/diagnóstico por imagem , Anormalidades do Sistema Respiratório/genética , Estudos Retrospectivos , Coluna Vertebral/diagnóstico por imagemRESUMO
The Elements of Morphology Standard Terminology working group published standardized definitions for external ear morphology. The primary objective of our study was to use these descriptions to evaluate the interrater reliability for specific features associated with microtia. We invited six raters from three different subspecialities to rate 100 ear photographs on 32 features. We calculated overall and within specialty and professional experience intraclass correlation coefficients (ICC) and 95% confidence intervals. A total of 600 possible observations were recorded for each feature. The overall interrater reliability ranged from 0.04 (95% CI: 0.00-0.14) for the width of the antihelix inferior crus to 0.93 (95% CI: 0.91-0.95) for the presence of the inferior crux of the antihelix. The reliability for quantitative characteristics such as length or width of an ear structure was generally lower than the reliability for qualitative characteristics (e.g., presence or absence of an ear structure). Categories with very poor interrater reliability included anti-helix inferior crux width (0.04, 95% CI: 0.00-0.14), crux helix extension (0.17, 95% CI 0.00-0.37), and shape of the incisura (0.14, 95% CI: 0.01-0.27). There were no significant differences in reliability estimates by specialty or professional experience for most variables. Our study showed that it is feasible to systematically characterize many of structures of the ear that are affected in microtia. We incorporated these descriptions into a standardized phenotypic assessment tool (PAT-Microtia) that might be used in multicenter research studies to identify sub-phenotypes for future studies of microtia.
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Microtia Congênita/patologia , Orelha Externa/anatomia & histologia , Terminologia como Assunto , Adolescente , Antropometria , Criança , Pré-Escolar , Orelha Externa/anormalidades , Orelha Externa/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Variações Dependentes do Observador , Fenótipo , Reprodutibilidade dos TestesRESUMO
Bathrocephaly, a deformity of the posterior skull with bulging of the midportion of the occipital bone, is often associated with a benign variant of the mendosal suture ( Mulliken and Le, 2008 ). The endochondral and membranous portions of the occipital bone converge at the mendosal suture, which normally closes during fetal life or early infancy. When it persists, it is associated with a characteristic head shape that requires no intervention. We review the clinical findings associated with postnatal persistence of the mendosal suture and discuss other factors that may be associated with bathrocephaly.
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Suturas Cranianas , Osso Occipital , Suturas Cranianas/cirurgia , Craniossinostoses , Cabeça , Humanos , Lactente , Anormalidades Maxilomandibulares , Crânio , SuturasRESUMO
OBJECTIVES: To evaluate the performance of 4-dimensional computed tomography (4D-CT) in assessing upper airway obstruction (UAO) in patients with Robin sequence (RS) and compare the accuracy and reliability of 4D-CT and flexible fiber-optic laryngoscopy (FFL). STUDY DESIGN: Prospective survey of retrospective clinical data. SETTING: Single, tertiary care pediatric hospital. METHODS: At initial and 30-day time points, a multidisciplinary group of 11 clinicians who treat RS rated UAO severity in 32 sets of 4D-CT visualizations and FFL videos (dynamic modalities) and static CT images. Raters assessed UAO at the velopharynx and oropharynx (1 = none to 5 = complete) and noted confidence levels of each rating. Intraclass correlation and Krippendorff alpha were used to assess intra- and interrater reliability, respectively. Accuracy was assessed by comparing clinician ratings with quantitative percentage constriction (QPC) ratings, calculated based on 4D-CT airway cross-sectional area. Results were compared using Wilcoxon rank-sum and signed-rank tests. RESULTS: There was similar intrarater agreement (moderate to substantial) with 4D-CT and FFL, and both demonstrated fair interrater agreement. Both modalities underestimated UAO severity, although 4D-CT ratings were significantly more accurate, as determined by QPC similarity, than FFL (-1.06 and -1.46 vs QPC ratings, P = .004). Overall confidence levels were similar for 4D-CT and FFL, but other specialists were significantly less confident in FFL ratings than were otolaryngologists (2.25 and 3.92, P < .0001). CONCLUSION: Although 4D-CT may be more accurate in assessing the degree of UAO in patients with RS, 4D-CT and FFL assessments demonstrate similar reliability. Additionally, 4D-CT may be interpreted with greater confidence by nonotolaryngologists who care for these patients.
Assuntos
Laringoscopia , Síndrome de Pierre Robin , Criança , Tomografia Computadorizada Quadridimensional , Humanos , Laringoscopia/métodos , Síndrome de Pierre Robin/diagnóstico por imagem , Estudos Prospectivos , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
Thorough assessment of dynamic upper airway obstruction (UAO) in Robin sequence (RS) is critical, but traditional evaluation modalities have significant limitations. Four-dimensional computed tomography (4D-CT) is promising in that it enables objective and quantitative evaluation throughout all phases of respiration. However, there exist few protocols or analysis tools to assist in obtaining and interpreting the vast amounts of obtained data. A protocol and set of data analysis tools were developed to enable quantification and visualization of dynamic 4D-CT data. This methodology was applied to a sample case at 2 time points. In the patient with RS, overall increases in normalized airway caliber were observed from 5 weeks to 1 year. There was, however, continued dynamic obstruction at all airway levels, though objective measures of UAO did improve at the nasopharynx and oropharynx. Use of 4D-CT and novel analyses provide additional quantitative information to evaluate UAO in patients with RS.
Assuntos
Tomografia Computadorizada Quadridimensional , Faringe/diagnóstico por imagem , Síndrome de Pierre Robin/diagnóstico por imagem , Feminino , Humanos , Lactente , Cavidade Nasal/diagnóstico por imagemRESUMO
STUDY OBJECTIVES: Identifying optimal treatment for infants with Robin sequence (RS) is challenging due to substantial variability in the presentation of upper airway obstruction (UAO) in this population. Objective assessments of UAO and treatments are not standardized. A systematic review of objective measures of UAO was conducted as a step toward evidence-based clinical decision-making for RS. METHODS: A literature search was performed in the PubMed and Embase databases (1990-2020) following PRISMA guidelines. Articles reporting on RS and UAO treatment were included if the following objective measures were studied: oximetry, polysomnography, and blood gas. Quality was appraised by the methodological index for nonrandomized studies (range: 0-24). RESULTS: A total of 91 articles met the inclusion criteria. The mean methodological index for nonrandomized studies score was 7.1 (range: 3-14). Polysomnography was most frequently used (76%) followed by oximetry (20%) and blood gas (11%). Sleep position of the infant was reported in 35% of studies, with supine position most frequently, and monitoring time in 42%, including overnight recordings, in more than half. Of 71 studies that evaluated UAO interventions, the majority used polysomnography (90%), of which 61% did not specify the polysomnography technique. Reported polysomnography metrics included oxygen saturation (61%), apnea-hypopnea index (52%), carbon dioxide levels (31%), obstructive apnea-hypopnea index (27%), and oxygen desaturation index (16%). Only 42 studies reported indications for UAO intervention, with oximetry and polysomnography thresholds used equally (both 40%). In total, 34 distinct indications for treatment were identified. CONCLUSIONS: This systematic review demonstrates a lack of standardization, interpretation, and reporting of assessment and treatment indications for UAO in RS. An international, multidisciplinary consensus protocol is needed to guide clinicians on optimal UAO assessment in RS. CITATION: Logjes RJH, MacLean JE, de Cort NW, et al. Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review. J Clin Sleep Med. 2021;17(8):1717-1729.
Assuntos
Obstrução das Vias Respiratórias , Síndrome de Pierre Robin , Obstrução das Vias Respiratórias/complicações , Obstrução das Vias Respiratórias/diagnóstico , Humanos , Lactente , Saturação de Oxigênio , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Polissonografia , SonoRESUMO
BACKGROUND: Patients with single-suture or minor suture craniosynostosis are typically asymptomatic at early presentation; intervention is aimed at reducing the risk of elevated intracranial pressure and associated developmental sequelae. Patients may be symptomatic in cases of major multisuture syndromic synostoses or delayed diagnosis. Clinical presentation in this context may include headaches, papilledema, cognitive delay, or behavioral issues. Cranial nerve palsies are atypical symptoms of intracranial hypertension in this patient population. CASE DESCRIPTION: An 11-month-old, otherwise healthy girl presented with bilateral severe papilledema and left abducens nerve palsy owing to nonsyndromic near-complete bilateral squamosal suture synostosis with associated incomplete sagittal and right lambdoid synostoses. The patient underwent urgent open cranial expansion, with resolution of her papilledema and improvement in eye position and motility. CONCLUSIONS: Cranial nerve palsies may be presenting symptoms of intracranial hypertension in patients with craniosynostosis. Multidisciplinary evaluation and treatment is paramount for appropriate management.