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1.
Clin Auton Res ; 33(3): 231-249, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36403185

RESUMEN

PURPOSE: With contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic. METHODS: We performed a systematic review of literature on diagnostics, pathophysiology, and clinical management in CCHS and LO-CCHS, and supplemented the review with anecdotal but extensive experiences from large academic pediatric centers with expertise in CCHS. RESULTS: We summarized our findings topically for an overview of the medical care in CCHS and LO-CCHS specifically applicable to adolescents and adults. Care topics include genetic and embryologic basis of the disease, clinical presentation, management, variability in autonomic nervous system dysfunction, and clarity regarding transitional care with unique considerations such as living independently, family planning, exposure to anesthesia, and alcohol and drug use. CONCLUSIONS: While a lack of experience and evidence exists in the care of adults with CCHS and LO-CCHS, a review of the relevant literature and expert consensus provides guidance for transitional care areas.


Asunto(s)
Proteínas de Homeodominio , Cuidado de Transición , Niño , Humanos , Adolescente , Adulto Joven , Proteínas de Homeodominio/genética , Mutación , Factores de Transcripción/genética
2.
Am J Med Genet A ; 185(12): 3694-3700, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34291880

RESUMEN

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.


Asunto(s)
Artritis/genética , Labio Leporino/genética , Fisura del Paladar/genética , Enfermedades del Tejido Conjuntivo/genética , Pérdida Auditiva Sensorineural/genética , Síndrome de Pierre Robin/genética , Desprendimiento de Retina/genética , Artritis/diagnóstico por imagen , Artritis/mortalidad , Artritis/patología , Niño , Preescolar , Labio Leporino/diagnóstico por imagen , Labio Leporino/mortalidad , Labio Leporino/patología , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/mortalidad , Fisura del Paladar/patología , Enfermedades del Tejido Conjuntivo/diagnóstico por imagen , Enfermedades del Tejido Conjuntivo/mortalidad , Enfermedades del Tejido Conjuntivo/patología , Femenino , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/mortalidad , Pérdida Auditiva Sensorineural/patología , Humanos , Lactante , Masculino , Síndrome de Pierre Robin/diagnóstico por imagen , Síndrome de Pierre Robin/mortalidad , Síndrome de Pierre Robin/patología , Desprendimiento de Retina/diagnóstico por imagen , Desprendimiento de Retina/mortalidad , Desprendimiento de Retina/patología , Estudios Retrospectivos
3.
Am J Med Genet A ; 182(1): 229-249, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31710777

RESUMEN

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.


Asunto(s)
Anomalías Múltiples/epidemiología , Cerebelo/anomalías , Anomalías del Ojo/epidemiología , Personal de Salud , Enfermedades Renales Quísticas/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Retina/anomalías , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Múltiples/terapia , Tronco Encefálico/patología , Cerebelo/patología , Anomalías del Ojo/genética , Anomalías del Ojo/patología , Anomalías del Ojo/terapia , Directrices para la Planificación en Salud , Humanos , Riñón/patología , Enfermedades Renales Quísticas/genética , Enfermedades Renales Quísticas/patología , Enfermedades Renales Quísticas/terapia , Hígado/patología , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/patología , Trastornos del Neurodesarrollo/terapia , Retina/patología
4.
Sleep Breath ; 24(3): 1143-1150, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31919717

RESUMEN

PURPOSE: Drug-induced sleep endoscopy (DISE) is useful in children with obstructive sleep apnea (OSA) that persists after adenotonsillectomy (AT), but its utility in surgically naïve children is unclear. We report polysomnography outcomes of surgically naïve children who underwent DISE-directed intervention because they were considered high risk for persistent OSA after adenotonsillectomy. METHODS: This study is a case series of 62 surgically naïve children with OSA who were considered high risk for persistence after AT and underwent DISE-directed intervention with pre- and postoperative polysomnography between 2012 and 2016. Analysis was performed with the paired t test. RESULTS: Children were on average 5.9 (± 5.5, 0.2-18.6) years old at the time of surgery, 68% male, 18% obese, and 60% white. Thirty-eight percent had a syndromic diagnosis: 19% trisomy 21, 11% hypotonic neuromuscular disorder, and 8% craniofacial condition. The remaining 62% were non-syndromic but underwent DISE because they had at least one risk factor for OSA persistence after AT (age > 7 years, black race, 1+ tonsils, obesity, and/or severe OSA). Forty-two percent underwent AT, while 58% underwent treatment other than AT, including 18% who had multilevel surgery. Children improved significantly in 4 out of 5 polysomnography parameters tested, including obstructive apnea-hypopnea index (oAHI; 22.2 to 7.2, p < 0.01) and oxygen nadir (82 to 87, p < 0.01). Thirty-eight (61%) had a postoperative oAHI < 5; 16 (21%) had a postoperative oAHI < 2. CONCLUSION: DISE resulted in intervention other than AT in 58% of surgically naïve children at high risk for persistent OSA after AT. DISE-directed intervention resulted in significant mean improvement in postoperative OSA.


Asunto(s)
Técnicas de Diagnóstico del Sistema Respiratorio , Endoscopía , Polisomnografía , Cuidados Posoperatorios , Cuidados Preoperatorios , Evaluación de Procesos, Atención de Salud , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapia , Adenoidectomía , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Evaluación de Resultado en la Atención de Salud , Factores de Riesgo , Tonsilectomía
7.
Pediatr Endocrinol Rev ; 12(3): 297-307, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25962207

RESUMEN

Prader-Willi Syndrome (PWS) is one of the most common genetic causes of obesity. The phenotype of obesity in PWS is unique and characterized by hyperphagia, earlier meal initiation, delayed meal termination, reduced energy expenditure, abnormal gut hormone profiles, as well as irregular responses to food in areas of the brain associated with satiety and reward. Management of obesity is necessary to avoid major morbidity. The relentless food-seeking behavior associated with PWS such as stealing, hoarding food, eating inedibles, and lying about eating, can cause turmoil both inside and outside of the home. Management is challenging for both patients and caretakers, but at this time there are limited medical therapies available besides dietary restriction and behavior management. However, current research shows promise for discovery of additional treatment options for hyperphagia and obesity management in PWS.


Asunto(s)
Obesidad/terapia , Síndrome de Prader-Willi/terapia , Animales , Humanos , Hiperfagia/complicaciones , Hiperfagia/terapia , Obesidad/etiología , Síndrome de Prader-Willi/complicaciones , Síndrome de Prader-Willi/genética , Programas de Reducción de Peso/métodos
8.
Lancet Respir Med ; 11(3): 283-296, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36162413

RESUMEN

Unresolved obstructive sleep apnoea (OSA) after an adenotonsillectomy, henceforth referred to as persistent OSA, is increasingly recognised in children (2-18 years). Although associated with obesity, underlying medical complexity, and craniofacial disorders, persistent OSA also occurs in otherwise healthy children. Inadequate treatment of persistent OSA can lead to long-term adverse health outcomes beyond childhood. Positive airway pressure, used as a one-size-fits-all primary management strategy for persistent childhood OSA, is highly efficacious but has unacceptably low adherence rates. A pressing need exists for a broader, more effective management approach for persistent OSA in children. In this Personal View, we discuss the use and the need for evaluation of current and novel therapeutics, the role of shared decision-making models that consider patient preferences, and the importance of considering the social determinants of health in research and clinical practice. A multipronged, comprehensive approach to persistent OSA might achieve better clinical outcomes in childhood and promote health equity for all children.


Asunto(s)
Apnea Obstructiva del Sueño , Tonsilectomía , Humanos , Niño , Promoción de la Salud , Apnea Obstructiva del Sueño/complicaciones , Adenoidectomía , Obesidad/complicaciones
9.
Sleep ; 45(9)2022 09 08.
Artículo en Inglés | MEDLINE | ID: mdl-35695235

RESUMEN

This study was aimed to evaluate the yearly incidence of pediatric narcolepsy prior to and following the 2009 H1N1 pandemic and to evaluate seasonal patterns of narcolepsy onset and associations with H1N1 influenza infection in the United States. This was a multicenter retrospective study with prospective follow-up. Participants were recruited from members of the Pediatric Working Group of the Sleep Research Network including 22 sites across the United States. The main outcomes were monthly and yearly incident cases of childhood narcolepsy in the United States, and its relationship to historical H1N1 influenza data. A total of 950 participants were included in the analysis; 487 participants were male (51.3%). The mean age at onset of excessive daytime sleepiness (EDS) was 9.6  ±â€… 3.9 years. Significant trend changes in pediatric narcolepsy incidence based on EDS onset (p  <  .0001) occurred over the 1998-2016 period, peaking in 2010, reflecting a 1.6-fold increase in narcolepsy incidence. In addition, there was significant seasonal variation in narcolepsy incident cases, with increased cases in spring (p  <  .05). Cross-correlation analysis demonstrated a significant correlation between monthly H1N1 infection and monthly narcolepsy incident cases (p  =  .397, p  <  .0001) with a lag time of 8 months. We conclude that there is a significant increase in pediatric narcolepsy incidence after the 2009 H1N1 pandemic in the United States. However, the magnitude of increase is lower than reported in European countries and in China. The temporal correlation between monthly H1N1 infection and monthly narcolepsy incidence, suggests that H1N1 infection may be a contributing factor to the increased pediatric narcolepsy incidence after the 2009 H1N1 pandemics.


Asunto(s)
Trastornos de Somnolencia Excesiva , Subtipo H1N1 del Virus de la Influenza A , Vacunas contra la Influenza , Gripe Humana , Narcolepsia , Niño , Trastornos de Somnolencia Excesiva/complicaciones , Femenino , Humanos , Incidencia , Gripe Humana/complicaciones , Gripe Humana/epidemiología , Masculino , Narcolepsia/epidemiología , Narcolepsia/etiología , Estudios Prospectivos , Estudios Retrospectivos , Sueño , Vacunación/efectos adversos
10.
Sleep Med ; 87: 114-118, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34562823

RESUMEN

BACKGROUND: Iron supplementation is the most commonly considered treatment option for children with restless legs syndrome (RLS) or periodic limb movement disorder (PLMD); however, there is a scarcity of evidence on the effectiveness of intravenous preparations. In this study, we evaluated the effectiveness and tolerability of intravenous ferric carboxymaltose (IV FCM) on clinical symptoms and iron indices in children with RLS or PLMD. METHODS: This was a single-center retrospective data analysis. Children with a diagnosis of RLS or PLMD, who underwent a single infusion of IV FCM, were included. Clinical Global Impression (CGI) Scale scores, serum ferritin, and serum iron profile at baseline and after eight weeks post infusion were obtained. Adverse effects were assessed. RESULTS: Thirty-nine children received IV FCM, 29 with RLS and 10 with PLMD. Pre-infusion CGI-Severity revealed moderate illness, with post-infusion CGI-Improvement between "very much improved" and "much improved". Ferritin increased from 14.6 µg/L±7.01 to 112.4 µg/L±65.86 (p < 0.00001), together with improvements in iron, total iron binding capacity, and transferrin levels from baseline to post-treatment. When compared to children with RLS, those with PLMD had a similar improvement in clinical symptoms and laboratory parameters. Seven subjects (14.3%) experienced one or two adverse events; all were mild. CONCLUSIONS: Children with RLS and PLMD responded to IV iron supplementation with improvement in both clinical severity and laboratory parameters. Treatment was well tolerated. Although larger, randomized-controlled trials are needed, IV FCM appears to be a promising alternative to oral iron supplementation for the treatment of pediatric RLS or PLMD.


Asunto(s)
Síndrome de Mioclonía Nocturna , Síndrome de las Piernas Inquietas , Niño , Compuestos Férricos/efectos adversos , Humanos , Maltosa/análogos & derivados , Síndrome de las Piernas Inquietas/tratamiento farmacológico , Estudios Retrospectivos , Resultado del Tratamiento
11.
Sleep Med Clin ; 15(4): 485-495, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33131659

RESUMEN

Individuals with Duchenne muscular dystrophy (DMD) have evolving sleep and respiratory pathophysiology over their lifetimes. Across the lifespan of DMD, various sleep-related breathing disorders (SRBD) have been described, including obstructive sleep apnea, central sleep apnea, and nocturnal hypoventilation. In addition to SRBD, individuals with DMD can be affected by insomnia, chronic pain and other factors interfering with sleep quality, and daytime somnolence. The natural progression of DMD pathophysiology has changed with the introduction of therapies for downstream pathologic pathways and will continue to evolve with the development of therapies that target function and expression of dystrophin.


Asunto(s)
Progresión de la Enfermedad , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/terapia , Humanos
12.
J Clin Sleep Med ; 16(6): 925-936, 2020 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-32056537

RESUMEN

STUDY OBJECTIVES: The objective of this study was to describe the feasibility, acceptability, and preliminary efficacy of a novel Sleep Intervention for Kids and Parents (SKIP). Parent and child primary sleep outcomes were total sleep time, wake after sleep onset (WASO), sleep efficiency (SE), and bedtime range. METHODS: Children 6-11 years of age with asthma and 1 parent, both with behavioral sleep disturbance, enrolled in this single-group pilot. The 8-week shared management intervention included weekly online educational modules, goal setting, and progress reporting. Feasibility was measured by the number of dyads who were eligible, enrolled, and retained. Acceptability was measured by survey and semistructured interview. Total sleep time, WASO, SE, and bedtime range were measured by actigraphy at baseline, after the intervention, and 12-week follow-up. Mixed-effects regression models were used to determine change in sleep outcomes from baseline. RESULTS: Thirty-three of 39 eligible dyads enrolled; of 29 dyads that started the intervention, 25 (86%) completed all study visits. SKIP was acceptable for 61% of children and 92% of parents. Compared with baseline, at follow-up, children had significantly improved WASO (-37 minutes; 95% confidence interval [CI], -44.5 to -29.7; P < .001), SE (5.4%; 95% CI, 4.2-6.5; P < .001), and bedtime range (-35.2 minutes; 95% CI, -42.9 to -27.5; P < .001). Parents also had significantly improved WASO (-13.9 minutes; 95% CI, -19.5 to -8.2; P < .001), SE (2.7%; 95% CI, 1.7-.7; P < .001), and bedtime range (-35.3 minutes; 95% CI, -51.0 to -19.7; P < .001). CONCLUSIONS: SKIP was feasible, acceptable, and we observed improved child and parent sleep outcomes except total sleep time. Following refinements, further testing of SKIP in a controlled clinical trial is warranted. Clinical Trial Registration: Registry: ClinicalTrials.gov; Name: Sleep Intervention for Kids and Parents: A Self-Management Pilot Study; URL: https://www.clinicaltrials.gov/ct2/show/study/NCT03144531; Identifier: NCT03144531.


Asunto(s)
Asma , Padres , Asma/complicaciones , Asma/terapia , Niño , Humanos , Internet , Proyectos Piloto , Sueño
13.
Sleep ; 32(7): 927-38, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19639756

RESUMEN

STUDY OBJECTIVES: To quantitatively assess daytime autonomic cardiovascular control in pediatric subjects with and without obstructive sleep apnea syndrome (OSAS). DESIGN: Respiration, R-R intervals, and noninvasive continuous blood pressure were monitored in awake subjects in the supine and standing postures, as well as during cold face stimulation. SETTING: Sleep disorders laboratory in a hospital setting. PARTICIPANTS: Ten pediatric patients (age 11.4 +/- 3.6 years) with moderate to severe OSAS (obstructive apnea-hypopnea index = 21.0 +/- 6.6/1 h) before treatment and 10 age-matched normal control subjects (age 11.5 +/- 3.7 years). MEASUREMENTS AND RESULTS: Spectral analysis of heart rate variability revealed that high-frequency power was similar and the ratio of low- to high-frequency power was lower in subjects with OSAS vs control subjects. The closed-loop minimal model allowed heart rate variability to be partitioned into a component mediated by respiratory-cardiac coupling and a baroreflex component, whereas blood pressure variability was assumed to result from the direct effects of respiration and fluctuations in cardiac output. Baroreflex gain was lower in subjects with OSAS vs control subjects. Under orthostatic stress, respiratory-cardiac coupling gain decreased in both subject groups, but baroreflex gain decreased only in controls. The model was extended to incorporate time-varying parameter changes for analysis of the data collected during cold face stimulation: cardiac output gain increased in controls but remained unchanged in OSAS. CONCLUSIONS: Our findings suggest that vagal modulation of the heart remains relatively normal in pediatric subjects with OSAS. However, baseline cardiovascular sympathetic activity is elevated, and reactivity to autonomic challenges is impaired.


Asunto(s)
Sistema Nervioso Autónomo/fisiopatología , Presión Sanguínea , Frecuencia Cardíaca , Modelos Cardiovasculares , Apnea Obstructiva del Sueño/fisiopatología , Adolescente , Análisis de Varianza , Barorreflejo , Niño , Preescolar , Frío , Femenino , Humanos , Masculino , Monitoreo Fisiológico/métodos , Estimulación Física/métodos , Postura , Respiración , Índice de Severidad de la Enfermedad
14.
Laryngoscope ; 129(12): 2771-2774, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-30575040

RESUMEN

OBJECTIVES/HYPOTHESIS: The optimal surgical treatment to improve sleep apnea in children with small tonsils is not known. Drug-induced sleep endoscopy (DISE) may be useful in selecting effective surgical procedures for this patient population. This study compared polysomnography (PSG) measures before and after DISE-directed surgery in children with small tonsils. We hypothesize that DISE-directed surgery improves PSG measures in children with small tonsils. We also aimed to identify the most common surgery performed in this population. STUDY DESIGN: Retrospective chart review. METHODS: A retrospective review was performed of subjects who underwent DISE at a single pediatric tertiary care center over a 6-year period. Inclusion criteria were 1+ tonsils and PSG performed before and after DISE-directed surgery. Exclusion criteria were previous tonsillectomy and tonsils score 2+ or greater. Pre- and postoperative PSG parameters were compared using paired t tests. RESULTS: Average age was 7 ± 4 years old at the time of surgery. The most common DISE-directed intervention was supraglottoplasty (n = 23). DISE-directed surgery significantly improved mean apnea-hypopnea index (AHI) from 14.4 to 8.0 (P = .02). Although improvements were seen in mean obstructive AHI (12.5 to 5.5), O2 nadir (87.0 to 88.3), and ODI (10.6 to 5.8), these measures did not reach statistical significance. CONCLUSIONS: DISE-directed surgery significantly improves AHI in children with small tonsils. The most common intervention performed on these children was supraglottoplasty. Interestingly, adenotonsillectomy was rarely performed in this cohort. Additionally, supraglottic collapse, prompting supraglottoplasty, is difficult to accurately assess in an awake child, supporting use of a DISE-directed approach in this patient population. LEVEL OF EVIDENCE: 4 Laryngoscope, 129:2771-2774, 2019.


Asunto(s)
Endoscopía/métodos , Tonsila Palatina/cirugía , Polisomnografía/métodos , Síndromes de la Apnea del Sueño/cirugía , Sueño/fisiología , Tonsilectomía/métodos , Anestésicos Intravenosos/administración & dosificación , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Estudios Retrospectivos , Síndromes de la Apnea del Sueño/diagnóstico , Síndromes de la Apnea del Sueño/fisiopatología , Resultado del Tratamiento
16.
Acta Otolaryngol ; 138(11): 1009-1013, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30776267

RESUMEN

BACKGROUND: Children with Down Syndrome (DS) and obstructive sleep apnea (OSA) are difficult to treat, as first line therapies may not lead to significant improvement. Drug-induced sleep endoscopy (DISE) directed surgery may be particularly beneficial for these patients. OBJECTIVE: To assess change in polysomnography (PSG) measures of patients with DS who underwent DISE-directed surgery. METHODS: Retrospective chart review was performed on patients with DS who underwent DISE-directed surgery and had pre- and post-surgery PSG. Patients were analyzed in groups defined by previous adenotonsillectomy. Two-sided t-tests with equal variances were used to assess statistical significance. RESULTS: Of 24 patients reviewed, 14 were surgically naïve and 10 had undergone prior adenotonsillectomy. The primary outcome was change in PSG parameters including apnea hypopnea index, obstructive apnea hypopnea index, oxygen nadir, oxygen desaturation index, and mean carbon dioxide level. While improvement was seen in all PSG parameters, only improvement in oxygen nadir in children who had undergone prior adenotonsillectomy was statistically significant (88.5% to 90.9%, p = .04). CONCLUSIONS AND SIGNIFICANCE: DISE-directed surgery may be beneficial for children with DS and OSA, with improvement in the means of main PSG measures observed. A larger, prospective study is warranted to further explore DISE utility.


Asunto(s)
Adenoidectomía/métodos , Anestesia General/métodos , Síndrome de Down/cirugía , Endoscopía/métodos , Apnea Obstructiva del Sueño/cirugía , Tonsilectomía/métodos , Niño , China , Estudios de Cohortes , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Polisomnografía/métodos , Estudios Retrospectivos , Medición de Riesgo , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología , Resultado del Tratamiento
17.
Laryngoscope ; 127(8): 1943-1949, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28008627

RESUMEN

OBJECTIVE: To determine whether the degree of lateral pharyngeal wall (LPW) obstruction on pediatric drug-induced sleep endoscopy (DISE) correlates with preprocedure tonsillar hypertrophy score on physical examination, and to determine if clinically small tonsils are obstructive. METHODS: Retrospective review of 154 patients who underwent DISE at a single pediatric tertiary care center over a 4-year period. Inclusion criteria were documentation of Brodsky tonsil score on preoperative physical examination. Exclusion criteria were previous tonsillectomy, adenoidectomy, or adenotonsillectomy. Lateral pharyngeal wall obstruction was graded for each patient from 0 (no obstruction) to 3 (severe obstruction) using a validated pediatric DISE scoring system known as the Chan-Parikh scoring system (C-P). Data were analyzed using multivariate linear regression controlling for age at time of DISE and presence of comorbid conditions. RESULTS: One hundred fifteen patients met criteria for analysis. Median age at DISE was 5.1 years. A moderate positive correlation was calculated between Brodsky score and DISE score, Spearman correlation coefficient 0.55, P = < 0.001. Linear regression modeling determined that for every 1-point increase in tonsil score, there was a 0.7-point increase in C-P LPW score (95% confidence interval [0.45, 0.92]). Sensitivity analysis did not detect a difference in correlation between children with comorbid conditions and children who were otherwise in good health. Of the 65 children with a pre-DISE Brodsky tonsil score of 1, 39 (60%) had a LPW score of 0 (no obstruction); nine (14%) had a score of 1 (< 50% obstruction); 11 (17%) had a score of 2 (> 50% obstruction); and six (9%) had a score of 3 (100% obstruction). CONCLUSION: There is a positive correlation between Brodsky Score and DISE LPW score. The majority of children with sleep-disordered breathing with a Brodsky score of 1 did not demonstrate LPW obstruction. These children may benefit from DISE for identification of alternative sites of upper airway obstruction. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:1943-1949, 2017.


Asunto(s)
Tonsila Faríngea/patología , Endoscopía , Apnea Obstructiva del Sueño/etiología , Apnea Obstructiva del Sueño/cirugía , Adolescente , Niño , Preescolar , Humanos , Lactante , Tamaño de los Órganos , Polisomnografía/métodos , Cuidados Preoperatorios , Estudios Retrospectivos , Sueño
18.
J Clin Sleep Med ; 12(4): 469-75, 2016 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-26715402

RESUMEN

STUDY OBJECTIVES: Nasal positive airway pressure (nPAP) for treatment of pediatric obstructive sleep apnea (OSA) is a widespread therapy that currently lacks longitudinal data describing how mask pressure impacts the developing facial skeleton. This retrospective cohort study compared midfacial growth in pediatric patients with underlying craniofacial conditions diagnosed with OSA who were compliant vs. noncompliant with nPAP therapy, and explored correlations between demographic, medical, and sleep variables with annual rate of facial change. METHODS: Records from Seattle Children's Hospital's Craniofacial Center and Sleep Disorders Center were reviewed to identify patients prescribed nPAP for OSA with serial cephalographic images obtained during routine clinical care for concomitant craniofacial diagnosis. Lateral cephalometric analysis was used to determine mean annual change in midfacial structures from T1 (pre-nPAP) to T2 (post-nPAP) in compliant vs. noncompliant subjects. Compliance was indicated by nPAP usage of > 20 h/week for > 6 months. RESULTS: 50 subjects were compliant with nPAP therapy (mean age 10.42 years) for an average of 2.57 years, and 50 subjects were noncompliant (mean age 8.53 years). Compliant subjects experienced negative mean annual change (retrusion) of the midface compared to forward growth seen in noncompliant subjects (SNA: -0.57° vs. 0.56°), counterclockwise rotation of palatal plane (SN-PP: -1.15° vs. 0.09°), and upper incisor flaring (U1-SN: 2.41° vs. -0.51°). CONCLUSIONS: Pressure to the midface from compliant nPAP use may alter normal facial growth. Cephalometric findings indicate a greater need for collaboration between sleep medicine physicians and orthodontists to monitor midfacial growth during nPAP treatment.


Asunto(s)
Cefalometría/estadística & datos numéricos , Presión de las Vías Aéreas Positiva Contínua/métodos , Huesos Faciales/patología , Máscaras/efectos adversos , Boca/patología , Apnea Obstructiva del Sueño/terapia , Niño , Estudios de Cohortes , Presión de las Vías Aéreas Positiva Contínua/instrumentación , Femenino , Humanos , Masculino , Desarrollo Maxilofacial , Cavidad Nasal , Cooperación del Paciente , Estudios Retrospectivos
19.
Otolaryngol Head Neck Surg ; 155(4): 676-80, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27301902

RESUMEN

OBJECTIVE: To determine if standardized intraoperative scoring of anatomic obstruction in children with obstructive sleep apnea correlates with the apnea-hypopnea index (AHI) and lowest oxygen saturation on preprocedural polysomnogram (PSG). A secondary objective was to determine if age, presence of a syndrome, or previous adenotonsillectomy affect this correlation. STUDY DESIGN: Case series with chart review. SETTING: Two tertiary care children's hospitals. SUBJECTS: Patients with a preprocedural PSG who underwent drug-induced sleep endoscopy (DISE) over a 4-year period. METHODS: All DISEs were graded in a systematic manner with the Chan-Parikh (C-P) scoring system. AHI and nadir oxygen saturations were extracted from preprocedural PSG. Data were analyzed with a multivariate linear regression model that controlled for age at time of sleep endoscopy, syndrome diagnosis, and previous adenotonsillectomy. RESULTS: A total of 127 children underwent PSG prior to DISE: 56 were syndromic, and 21 had a previous adenotonsillectomy. Mean AHI was 13.6 ± 19.6 (± SD), and mean oxygen nadir was 85.4% ± 9.4%. Mean C-P score was 5.9 ± 2.7. DISE score positively correlated with preoperative AHI (r = 0.36, P < .0001) and negatively correlated with oxygen nadir (r = -0.26, P = .004). The multivariate linear regression models estimated that for every 1-point increase in C-P score, there is a 2.6-point increase in AHI (95% confidence interval: 1.4-3.8, P < .001) and a 1.1% decrease in the lowest oxygen saturation (95% confidence interval: -1.7 to -0.6, P < .001). CONCLUSION: The C-P scoring system for pediatric DISE correlates with both AHI and lowest oxygen saturation on preprocedural PSG.


Asunto(s)
Endoscopía/métodos , Oxígeno/sangre , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/cirugía , Adenoidectomía , Factores de Edad , Obstrucción de las Vías Aéreas , Anestesia General , California , Niño , Femenino , Humanos , Masculino , Polisomnografía , Índice de Severidad de la Enfermedad , Tonsilectomía , Washingtón
20.
Int J Pediatr Otorhinolaryngol ; 79(4): 511-5, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25698459

RESUMEN

OBJECTIVES: To evaluate the polysomnographic outcomes of supraglottoplasty (SGP) performed for sleep endoscopy diagnosed sleep dependent laryngomalacia as treatment for obstructive sleep apnea syndrome (OSAS). METHODS: Nine subjects aged 6-55 months underwent supraglottoplasty for sleep dependent laryngomalacia. All subjects underwent both pre- and post-procedural polysomnograms. RESULTS: Supraglottoplasty for sleep dependent laryngomalacia resulted in improvement of OSAS as measured by collective improvements in 8 different primary polysomnogram parameters: apnea-hypopnea index (AHI), minimum (nadir) and mean oxygen saturation, mean and maximum carbon dioxide, total sleep time, sleep efficiency, arousal index, as well as improvement in weight for length percentiles. Subjects had a significant 80% decrease in percentage change in AHI (p<0.005), with decrease in mean AHI from 23.4 to 4.8 following supraglottoplasty. Seven of 9 subjects demonstrated improvement in nadir saturations, 6 of 9 subjects had improvement in sleep efficiency, and 7 of 8 subjects under 4 years of age had improvement in weight for length percentile. CONCLUSIONS: Supraglottoplasty for sleep dependent laryngomalacia is an effective treatment of OSAS, and can be readily diagnosed using sleep endoscopy. Further investigation is warranted to increase awareness and outcomes related to sleep dependent laryngomalacia.


Asunto(s)
Endoscopía , Laringomalacia/diagnóstico , Laringomalacia/cirugía , Apnea Obstructiva del Sueño/etiología , Apnea Obstructiva del Sueño/cirugía , Preescolar , Femenino , Humanos , Lactante , Cartílagos Laríngeos/cirugía , Laringomalacia/complicaciones , Masculino , Polisomnografía , Estudios Retrospectivos , Apnea Obstructiva del Sueño/diagnóstico , Resultado del Tratamiento
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