Speech Development in Cleft Palate with and without Robin Sequence.

BACKGROUND: Robin sequence is defined as the triad of micrognathia, glossoptosis, and upper airway obstruction. In up to 85 percent, it is associated with cleft palate. Many studies have reported worse speech development in Robin sequence children after cleft palate repair. The authors investigated speech development in isolated Robin sequence with cleft palate versus children with cleft palate only at the age of 5 to 6 years. METHODS: All Robin sequence children were treated with the Tübingen palatal plate after birth. Data were collected using the German version of the Great Ormond Street Speech Assessment. Audio and video recordings were reviewed and analyzed separately by two blinded senior phoniatricians based on the German version of the Universal Reporting Parameters for Cleft Palate Speech, and scored to enable comparability of speech outcomes. RESULTS: Forty-four children (Robin sequence, n = 22; cleft palate only, n = 22) were included. Robin sequence children were significantly older at surgery (11.8 months versus 7.1 months; p < 0.001) but younger at study (70.5 months versus 75.2 months; p = 0.035). They also had more severe cleft of the palate (p = 0.006). All children studied showed good to very good speech development without serious impairment. None of the reported parameters on the German version of the Universal Reporting Parameters for Cleft Palate Speech showed significant group differences; the median total score in the Robin sequence group was 23 (interquartile range, 16.5 to 27.5) versus 19 (interquartile range, 17 to 23) in the cleft palate-only group. Statistical analysis revealed no significant effect of group (Z = -1.47; p = 0.14). CONCLUSIONS: No group differences in speech development were found at age 5 to 6 years. Isolated Robin sequence does not necessarily represent a risk for impaired speech development. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.

INTRODUCTION: Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW. METHODS: Forty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDx evaluations, including blink reflex and facial and peripheral nerve conduction studies, with optional needle electromyography. RESULTS: MBS and hereditary congenital facial paresis (HCFP) subjects had low-amplitude cranial nerve 7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter syndrome, myotonic dystrophy, other undefined myopathies, or CFW with arthrogryposis, ophthalmoplegia, and other system involvement. DISCUSSION: EDx in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling.

Weight Gain in Infants With Pierre Robin Sequence in the First Year of Life.

OBJECTIVE: To compare growth trends among infants with Pierre Robin sequence (PRS) to normal World Health Organization (WHO) growth standards. STUDY DESIGN: Case series with chart review. SUBJECTS AND METHODS: Twenty-four infants with syndromic and nonsyndromic PRS (54% male) treated at an urban academic medical center between 2009 and 2017 were included. Infants with symptomatic hypoventilation underwent mandibular distraction osteogenesis (71%). Weights were recorded at roughly 1- to 3-month intervals from birth to 12 months, with ages adjusted for prematurity. The 50th percentile (P50) for this cohort was calculated and compared to WHO standards. RESULTS: In total, 135 weight entries for 24 subjects were included. The birth weight P50 was similar to the WHO standard (females: 0.09 kg above WHO [95% CI, -0.25 to +0.43; z score = 0.19]; males: 0.38 kg below WHO [95% CI, -0.77 to 0.00; z score = -0.79]). A slower growth rate was noted among female and male infants with PRS: in month 5, the PRS P50 among females was 1.42 kg below the WHO standard (95% CI, -1.77 to -1.07; z score = -1.64). Among males in month 3, the PRS P50 was 1.68 kg below the WHO standard (95% CI, -2.12 to -1.24; z score = -2.19). By month 12, weight deficiencies had resolved in both groups. CONCLUSION: Newborns with and without PRS may have similar birth weights, but the growth rate among male and female infants with PRS may lag behind that of unaffected infants, even when upper airway obstruction has been addressed in early infancy.

Correlation between clinical risk factors and tracheal intubation difficulty in infants with Pierre-Robin syndrome: a retrospective study.

BACKGROUND: Difficult tracheal intubation is a common problem encountered by anesthesiologists in the clinic. This study was conducted to assess the difficulty of tracheal intubation in infants with Pierre Robin syndrome (PRS) by incorporating computed tomography (CT) to guide airway management for anesthesia. METHODS: In this retrospective study, we analyzed case-level clinical data and CT images of 96 infants with PRS. First, a clinically experienced physician labeled CT images, after which the color space conversion, binarization, contour acquisition, and area calculation processing were performed on the annotated files. Finally, the correlation coefficient between the seven clinical factors and tracheal intubation difficulty, as well as the differences in each risk factor under tracheal intubation difficulty were calculated. RESULTS: The absolute value of the correlation coefficient between the throat area and tracheal intubation difficulty was 0.54; the observed difference was statistically significant. Body surface area, weight, and gender also showed significant difference under tracheal intubation difficulty. CONCLUSIONS: There is a significant correlation between throat area and tracheal intubation difficulty in infants with PRS. Body surface area, weight and gender may have an impact on tracheal intubation difficulty in infants with PRS.

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.

Catel-Manzke syndrome, also known as micrognathia-digital-syndrome, is a rare autosomal recessive disorder characterized by the combination of the two cardinal features Pierre-Robin sequence and bilateral hyperphalangy leading to ulnar clinodactyly (ulnar curvature of the phalanges) and radial deviation (radial angulation at the metacarpophalangeal joint) of the index fingers. Individuals without one of these major hallmarks or with additional hand malformations have been described as atypical or Catel-Manzke-like syndrome. Biallelic TGDS pathogenic variants have thus far been detected in eight individuals with typical Catel-Manzke syndrome and in one fetus with additional features. Here we report on two individuals with TGDS pathogenic variants who presented with mild radial deviation and ulnar clinodactyly of the index fingers but without radiologic signs of hyperphalangy. Furthermore, both individuals have disproportionate short stature, a feature that has not yet been associated with Catel-Manzke syndrome. Our data broaden the phenotypic spectrum of TGDS-associated Catel-Manzke syndrome and expand the indication for diagnostic testing.

A retrospective study of patients with Robin sequence: Patient characteristics and their impact on clinical outcomes.

INTRODUCTION: Robin sequence (RS) is a congenital set of abnormalities of the head and neck, consisting of a hypoplastic mandible (micrognathia), a tongue that is displaced posteriorly (glossoptosis), and obstruction of the airway. A clear set of diagnostic criteria for this complex condition has recently been established, but there is still no consensus in the literature with respect to managing the associated airway, feeding, and hearing difficulties. The objectives of the study are: 1) to describe the management of airway and feeding issues in children with RS; and 2) to evaluate the impact of airway and feeding strategies on important clinical outcomes. METHODS: A retrospective chart review was conducted of all pediatric patients diagnosed with RS at London Health Sciences Centre from January 1995 until September 2017. The frequencies of all airway and feeding interventions were collected. Data were collected on several clinical outcomes including initial admission length, enteral feeding duration, tympanostomy tube insertion frequency, and hearing thresholds. Statistical analyses to evaluate the impact of airway and feeding strategies on clinical outcomes were carried out using independent samples t-tests and Chi-square tests, where appropriate. RESULTS: Twenty-four patients were identified. Five patients (20.8%) required airway surgery and 18 patients (75.0%) required enteral feeding. Airway surgery was significantly associated with a longer ICU admission (15.8 vs. 4.3 days, p < 0.05), a longer overall hospital admission (73.0 vs. 25.2 days, p < 0.05), a delay in introducing oral feeds (222.8 vs. 11.5 days, p < 0.05), and a higher frequency of tympanostomy tube insertions (80% vs. 23.5% requiring ≥2 insertions, p < 0.05). Enteral feeding was significantly associated with a longer ICU admission (8.8 vs. 0 days, p < 0.05) and a longer overall hospital admission (43.9 vs. 5.6 days, p < 0.05). CONCLUSIONS: This study demonstrates the substantial impact that airway and feeding difficulties have on RS patient morbidity, particularly with respect to length of hospital and ICU admission. This information has prognostic value and may be helpful in generating a management algorithm for this complex patient population.

Impact of prone positioning in infants with Pierre Robin sequence: a polysomnography study.

OBJECTIVE/BACKGROUND: Obstructive sleep apnea syndrome (OSA) is frequent in Pierre Robin sequence (PRS) infants. Prone positioning (PP) is commonly recommended but has never been studied by polysomnography (PSG). This study aimed to evaluate the impact of the PP on sleep and breathing outcomes measured by PSG. PATIENTS/METHODS: Retrospective study conducted between 2015 and 2017 in a tertiary hospital. A PSG with pulse oximetry and transcutaneous carbon dioxide was performed in PRS infants in the supine position (SP) and the PP. Sleep and breathing outcome measures were compared between SP and PP. RESULTS: Among the 18 PRS (mean ± SD age: 44 ± 26 days at evaluation), 11 had clinical manifestations of OSA. All had severe OSA diagnosed on PSG. In the PP, infants had a significantly higher sleep efficiency (median [IQR]: 83% [69-90]) than in the SP (70% [55-77], p = 0.04). During REM, there was a trend towards lower OAHI in the PP (50/h [28-82] versus 61/h [40-103], p = 0.05). For 13, the PP was the best sleep position (72%), and for four the SP was the best sleep position (22%; p < 0.01). The PP was sufficient alone to decrease OSA index <10 events/hour in three infants. CONCLUSION: Positioning infants in the PP led to an improvement of sleep quality and an incomplete correction of OSAS in the vast majority of PRS infants. A nocturnal sleep recording seems to be indicated systematically in the early evaluation of these young patients to choose the best therapeutic option for OSAS. CLINICAL TRIAL REGISTRATION: Not applicable.

A generalized multistage approach to oral and nasal intubation in infants with Pierre Robin sequence: A retrospective review.

BACKGROUND: Airway management in children with Pierre Robin sequence in the infantile period can be challenging and frequently requires specialized approaches. AIMS: The aim of this study was to review our experience with a multistage approach to oral and nasal intubation in young infants with Pierre Robin sequence. METHODS: After IRB approval, we reviewed 13 infants with Pierre Robin sequence who underwent a multistage approach to intubation in the operating room for mandibular distractor or gastrostomy tube placement. All patients underwent awake placement of either an LMA-Classic™ #1 or ProSeal™ laryngeal mask airway size #1. General anesthesia was induced with sevoflurane, and patients were relaxed with rocuronium. The laryngeal mask airway was replaced with an air-Q® 1.0. Children were then intubated through the air-Q® 1.0 using a flexible fiberoptic bronchoscope. In cases that required a nasotracheal tube, the oral tube was left in place while a flexible fiberoptic bronchoscope loaded with a similar internal diameter nasal Ring-Adair-Elwyn (RAE) tube was introduced into the nares. Once the scope was in proximity to the glottis, the oral tube was removed and the patient was intubated with the nasal RAE over the fiberscope. RESULTS: All 13 patients with Pierre Robin sequence were successfully intubated. We observed no periods of desaturation during placement and induction with the LMA-Classic™ or ProSeal™ laryngeal mask airway except in one patient who was in extremis in the neonatal intensive care unit and required emergent transport to the operating room with the laryngeal mask airway in place. We observed several brief periods of desaturation during the apneas associated with fiberoptic intubation. CONCLUSION: In conclusion, we were able to use a ventilation-driven, multistaged approach using the unique properties of different supraglottic airways to facilitate oral and nasal intubation in 13 infants with Pierre Robin sequence.

Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle.

The fusion of myoblasts into multinucleated muscle fibers is vital to skeletal muscle development, maintenance and regeneration. Genetic mutations in the Myomaker (mymk) gene cause Carey-Fineman-Ziter syndrome (CFZS) in human populations. To study the regulation of mymk gene expression and function, we generated three mymk mutant alleles in zebrafish using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology and analyzed the effects of mymk knockout on muscle development and growth. Our studies demonstrated that knockout of mymk resulted in defective myoblast fusion in zebrafish embryos and increased mortality at larval stage around 35-45 days post-fertilization. The viable homozygous mutants were smaller in size and weighed approximately one-third the weight of the wild type (WT) sibling at 3 months old. The homozygous mutants showed craniofacial deformities, resembling the facial defect observed in human populations with CFZS. Histological analysis revealed that skeletal muscles of mymk mutants contained mainly small-size fibers and substantial intramuscular adipocyte infiltration. Single fiber analysis revealed that myofibers in mymk mutant were predominantly single-nucleated fibers. However, myofibers with multiple myonuclei were observed, although the number of nuclei per fiber was much less compared with that in WT fibers. Overexpression of sonic Hedgehog inhibited mymk expression in zebrafish embryos and blocked myoblast fusion. Collectively, these studies demonstrated that mymk is essential for myoblast fusion during muscle development and growth.

Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence.

Pierre Robin Sequence (PRS) combines mandible microretrognathia, asynchronism of the pharynx and tongue, glossoptosis and, in some cases, cleft palate. Its principal functional consequences are respiratory and feeding problems during the neonatal period. In this study, we focused on the impact of early closure of the cleft at six months on mandibular growth in patients with PRS. We performed a retrospective study of 15 patients followed for PRS and undergoing surgery performed by the same senior surgeon (HB) at our cleft center between 2005 and 2012. These patients underwent early closure of the cleft (at a mean age of 5.87 months) by intravelar veloplasty, as described by Sommerlad. Only one article with exploitable data analyzing facial and mandibular growth in a cephalometric study of children with PRS has been published. The children in this series, constituting the control group for our study, underwent veloplasty between the ages of 12 and 18 months, often accompanied by labioglossoplasty, and the cephalometric study was carried out between the ages of four and seven years. We compared this control group in which surgery was performed at 12-18 months with our series of children undergoing surgery at six months, in a cephalometric study based on teleradiographic profile measurements performed between the ages of four and seven years. We found that early closure of the cleft soft palate yielded results identical to those for the control group in terms of mandibular growth, without the need for labioglossopexy. Finally, early intravelar veloplasty led to early functional improvement in terms of speech and phonation.

The ontogeny of Robin sequence.

The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as "Robin sequence" (RS) is caused by oropharyngeal developmental events constrained by a reduced stomadeal space. This sequence of abnormal embryonic development also results in an anatomical configuration that might predispose the fetus to a cleft palate. RS is heterogeneous and many different etiologies have been described including syndromic, RS-plus, and isolated forms. For an optimal diagnosis, subsequent treatment and prognosis, a thorough understanding of the embryology and pathogenesis is necessary. This manuscript provides an update about our current understanding of the development of the mandible, tongue, and palate and possible mechanisms involved in the development of RS. Additionally, we provide the reader with an up-to-date summary of the different etiologies of this phenotype and link this to the embryologic, developmental, and genetic mechanisms.

Predictors of speech outcomes in children with Pierre Robin sequence.

BACKGOUND: Pierre Robin sequence (PRS) has worse speech outcomes than isolated cleft palate. We aimed to search for possible associations of phonological outcomes with PRS status (isolated vs syndromic), clinical severity, soft palate muscles deficiency, or surgical procedure. METHODS: We designed a retrospective study of 130 children (male/female ratio: 0.4) with isolated (96) or syndromic (34) PRS with cleft palate. Grading systems were used to classify retrognathia, glossoptosis, and respiratory and feeding disorders. Electromyography was used to investigate levator veli palatini muscles. Hard cleft palate was measured using maxillary casts. Intravelar veloplasty was performed using the Sommerlad's technique. Phonological outcomes were assessed using the Borel-Maisonny classification. RESULTS: Cleft palate was repaired in one stage (65.5%) or hard palate closure was postponed (34.5%). Velopharyngeal insufficiency was more frequent in syndromic PRS (53%) vs. isolated PRS (30.5%) (p = 0.01), but was not statistically associated with clinical grade, hard cleft palate width, soft palate electromyography, and surgical procedure. CONCLUSIONS: In children with PRS, anatomic variables, initial clinical severity, and soft palate muscle deficiency are not predictors of speech prognosis.

Condylar positions before and after bilateral mandibular distraction osteogenesis in children with Pierre Robin sequence.

This study aimed to analyze the changes in mandibular morphology after bilateral mandibular distraction osteogenesis (BMDO) in children with Pierre Robin sequence. The positions of the condyles were analyzed in reconstructed three-dimensional craniomaxillofacial images obtained for 18 children before and 8-12 weeks after BMDO. Differences between pre- and postoperative parameters were assessed using paired t-tests. After surgery, a significant decrease in superior joint space was detected (P<0.05), but no change in anterior joint space or posterior joint space was observed. The ratio of the distance between gonia and distance between condylion points (GoL-GoR/CoL-CoR) (P<0.001) and the distances between the condyle and midsagittal plane (P<0.001) increased after surgery, while the condylar horizontal angle decreased (P<0.05). No change in condylar vertical angle was noted. After BMDO, the condyle displayed an outward and upward shift, as well as outward rotation along the proximal segment. The mandible body exhibited forward movement with a more significant opening range. These changes were consistent with the extent of the newly formed bone tissue and the improvement in coordination and appearance of the children's facial structures. The long-term effects of changes in condylar position on the development of the maxillofacial structures needs to be studied further.

Distraction Osteogenesis Normalizes Mandibular Body-Symphysis Morphology in Infants With Robin Sequence.

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.

Pierre Robin Sequence: An Evidence-Based Treatment Proposal.

BACKGROUND: The Pierre Robin sequence (PRS) has been defined as the presence of micrognathia, glossoptosis, and respiratory obstruction in the neonatal period. Since its original description, different therapeutic approaches have been proposed obtaining different success rates, but there is no consensus about its management. METHODS: A literature review was conducted in PubMed, Embase, and Cochrane databases, for the period of January,1985 to November, 2016. A number of 23 articles resulting from clinical studies, discussing diagnostic tests or therapeutic approaches, and directly or indirectly comparing diagnostic or treatment modalities were selected and assessed using the GRADE methodology. RESULTS: After reviewing and analyzing the selected articles, an evidence-based algorithm for diagnosis and integral management of PRS patients was designed. CONCLUSION: Based on the anatomical principles and natural evolution of PRS, the clinical scenario must be evaluated thoroughly as a dynamic event to develop a management sequence that minimizes morbidity and mortality and accelerates patients' reinsertion to normal life.

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.

A comprehensive scoring system in correlation with perioperative airway management for neonatal Pierre Robin Sequence.

PURPOSE: To evaluate a comprehensive scoring system which combines clinical manifestations of Pierre Robin Sequence (PRS) including severity of breathing difficulties, body weight and preoperative Cormack-Lehane grade, for its correlation with perioperative PRS airway management decision. DESIGN: Forty PRS children were retrospectively recruited after surgery. Specialists examined all subjects and scored for clinical manifestations (1´ - 4´), weight gain (1´- 4´), dyspnea scores (1´- 4´), and Cormack-Lehane grade (1´- 4´). The correlation of the integrated scores and the necessity of endotracheal intubation or laryngeal mask application were analyzed. In addition, the score correlation with postoperative dyspnea and/or low pulse oxygen saturation (SPO2) levels after extubation was determined. FINDINGS: In our study every individual patient had a score from 0´ to 16´, while the higher in the numbers represented higher risk of breathing difficulty. All patients with comprehensive scores <10 points underwent endotracheal intubation successfully. Patients scoring 10-12 points had an intubation success rate of 47%, whereas all patients scored >13 points required a laryngeal mask assisted airway management and were considered to have difficult airways. Dyspnea after extubation and postoperative low SPO2 occurred among patients who scored over 10 points. CONCLUSION: In PRS patients, preoperative weight gaining status and severity of dyspnea in combination with Cormack-Lehane classification provide a scoring system that could help to optimize airway management decisions such as endotracheal intubation or laryngeal mask airway placement and has the potential to predict postoperative dyspnea or low SPO2 levels.

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.

Can telemetry data obviate the need for sleep studies in Pierre Robin Sequence?

OBJECTIVE: This study looks to correlate telemetry data gathered on patients with Pierre Robin Sequence (PRS) with sleep study data. Strong correlation might allow obstructive sleep apnea (OSA) to be reasonably predicted without the need for sleep study. METHODS: Charts from forty-six infants with PRS who presented to our children's hospital between 2005 and 2015 and received a polysomnogram (PSG) prior to surgical intervention were retrospectively reviewed. Correlations and scatterplots were used to compare average daily oxygen nadir, overall oxygen nadir, and average number of daily desaturations from telemetry data with apnea-hypopnea index (AHI) and oxygen nadir on sleep study. Results were also categorized into groups of AHI ≥ or <10 and oxygen nadir ≥ or <80% for chi-squared analysis. RESULTS: Our data did not show significant correlations between telemetry data and sleep study data. Patients with O2 nadir below 80% on telemetry were not more likely to have an O2 nadir below 80% on sleep study. Patients with an average O2 nadir below 80% did show some correlation with having an AHI greater than 10 on sleep study but this relationship did not reach significance. Of 22 patients who did not have any desaturations on telemetry below 80%, 16 (73%) had an AHI >10 on sleep study. CONCLUSIONS: In the workup of infants with PRS, the index of suspicion is high for OSA. In our series, telemetry data was not useful in ruling out severe OSA. Thus our data do not support forgoing sleep study in patients with PRS and concern for OSA despite normal telemetry patterns.