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1.
J Clin Sleep Med ; 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38661675

ABSTRACT

STUDY OBJECTIVES: Advances in prenatal repair of myelomeningocele (MMC) have improved outcomes involving different organ systems. There is limited data on respiratory outcomes following prenatal surgical repair. We hypothesize there is no difference in respiratory outcomes between spina bifida (SB) patients who have undergone prenatal versus postnatal repair. METHODS: We performed a retrospective study of 46 infants <1 year with SB seen at Children's Hospital Los Angeles from 2004-2022. Demographic data, timing of closure, neonatal course, Chiari II malformation (CIIM), ventriculoperitoneal shunt (VPS), polysomnography (PSG) results, and need for supplemental oxygen were collected. Unpaired t-test and Chi-square Test were used to analyze results. RESULTS: 31/46 had prenatal repair of MMC; average age at repair was 27 weeks post-conception (PCA). Average age at postnatal repair was 37 PCA. There was no difference in age at PSG. There was no difference in CIIM presence (p=0.61). 60% of patients with postnatal repair and 23% in the prenatal group underwent VPS placement (p=0.01).There was no difference in PSG findings between the two groups: CAI (p=0.11), OAHI (p=0.64), average SpO2 baseline (p=0.91), average SpO2 nadir (p=0.17), average PETCO2 baseline (p=0.87), and average PETCO2 maximum (p=0.54). There were no significant differences in the proportion of patients on supplemental O2 (p=0.25), CSA or OSA between groups. CONCLUSIONS: Patients with SB who've undergone closure of neural tube defect have persistent central apneas, obstructive apneas, and significant hypoxemia. There were no differences in the frequency or severity of sleep-disordered breathing in those with prenatal repair versus postnatal repair.

2.
Pediatr Pulmonol ; 2024 Mar 28.
Article in English | MEDLINE | ID: mdl-38545994

ABSTRACT

The American Thoracic Society Core Curriculum updates clinicians annually in pediatric pulmonary disease. This is a summary of the Pediatric Pulmonary Medicine Core Curriculum presented at the 2023 American Thoracic Society International Conference. The respiratory disorders of infancy discussed in this year's review include: the care of the patient with bronchopulmonary dysplasia in the neonatal intensive care unit, clinical phenotypes and comorbidities; diffuse lung disease; pulmonary hypertension; central and obstructive sleep apnea. The care of infants with respiratory disorders often poses significant challenges to the general pediatric pulmonologist, sleep clinician, and neonatologist. This review aims to highlight the most clinically relevant aspects of the evaluation, management, and outcomes of infants with these key respiratory disorders, while emphasizing the importance of multidisciplinary care. Furthermore, this document summarizes essential aspects of genetic testing, novel imaging and treatment modalities, and includes multiple resources for clinical practice.

3.
ERJ Open Res ; 10(1)2024 Jan.
Article in English | MEDLINE | ID: mdl-38375431

ABSTRACT

Patients with CCHS who also have Hirschsprung disease, elevated or low BMI, or pulmonary hypertension may be predisposed to elevated transaminases and may need periodic follow-up of their hepatic function https://bit.ly/3uW7AUG.

4.
Comput Struct Biotechnol J ; 21: 5765-5775, 2023.
Article in English | MEDLINE | ID: mdl-38074464

ABSTRACT

Pancreatic cancer (PanCa) is one of the most aggressive forms of cancer and its incidence rate is continuously increasing every year. It is expected that by 2030, PanCa will become the 2nd leading cause of cancer-related deaths in the United States due to the lack of early diagnosis and extremely poor survival. Despite great advancements in biomedical research, there are very limited early diagnostic modalities available for the early detection of PanCa. Thus, understanding of disease biology and identification of newer diagnostic and therapeutic modalities are high priority. Herein, we have utilized high dimensional omics data along with some wet laboratory experiments to decipher the expression level of hormone receptor interactor 13 (TRIP13) in various pathological staging including functional enrichment analysis. The functional enrichment analyses specifically suggest that TRIP13 and its related oncogenic network genes are involved in very important patho-physiological pathways. These analyses are supported by qPCR, immunoblotting and IHC analysis. Based on our study we proposed TRIP13 as a novel molecular target for PanCa diagnosis and therapeutic interventions. Overall, we have demonstrated a crucial role of TRIP13 in pathogenic events and progression of PanCa through applied integrated computational biology approaches.

5.
J Clin Sleep Med ; 19(9): 1697-1700, 2023 Sep 01.
Article in English | MEDLINE | ID: mdl-37185129

ABSTRACT

Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the PHOX2B gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a Phox2b27Ala/+ mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report on three patients with obstructive sleep apneas with absent or mild hypoventilation. Our cases propose that obstructive apneas can be the primary presentation in patients who subsequently develop the classic phenotype of congenital central hypoventilation syndrome and emphasize their close monitoring and surveillance. CITATION: Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(9):1697-1700.

6.
Paediatr Respir Rev ; 48: 20-23, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37225541

ABSTRACT

The COVID-19 pandemic has created diagnostic difficulties with the increase in mental health illnesses that often present with nonspecific symptoms, like hypersensitivity pneumonitis. Hypersensitivity pneumonitis is a complex syndrome of varying triggers, onset, severity, and clinical manifestations that can be challenging to diagnose in many cases. Typical symptoms are nonspecific and can be attributed to other entities. There are no pediatric guidelines, which contributes to diagnostic difficulties and delays in treatment. It is particularly important to avoid diagnostic biases, have an index of suspicion for hypersensitivity pneumonitis, and to develop pediatric guidelines as outcomes are excellent when diagnosed and treated promptly. This article discusses hypersensitivity pneumonitis with a focus on the causes, pathogenesis, diagnostic approach, outcomes, and prognosis while using a case to illustrate the diagnostic difficulties worsened by the COVID-19 pandemic.


Subject(s)
Alveolitis, Extrinsic Allergic , COVID-19 , Panic Disorder , Humans , Child , Panic Disorder/complications , Pandemics , Alveolitis, Extrinsic Allergic/diagnosis , Alveolitis, Extrinsic Allergic/therapy , Alveolitis, Extrinsic Allergic/epidemiology , COVID-19/complications , Prognosis
7.
J Clin Sleep Med ; 19(6): 1161-1164, 2023 06 01.
Article in English | MEDLINE | ID: mdl-36798979

ABSTRACT

Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the PHOX2B gene. There have been case reports describing variable phenotypes and mutations of the PHOX2B gene, not commonly tested for, that may challenge the classic definition of CCHS. We report on 3 family members with a rare heterozygous deletion encompassing the entire PHOX2B gene with variable phenotypes, including sleep-disordered breathing and autonomic nervous system involvement, but an unexpected lack of alveolar hypoventilation, which is usually a defining feature of CCHS. Our cases highlight the dilemmas in making a diagnosis of CCHS and emphasize the need for expanded genetic testing, including for PHOX2B gene deletion. More patients with variable phenotypes of CCHS may be identified through comprehensive genetic testing and warrant surveillance as they are still at risk for high-risk complications of CCHS. CITATION: Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome? J Clin Sleep Med. 2023;19(6):1161-1164.


Subject(s)
Homeodomain Proteins , Sleep Apnea, Central , Humans , Homeodomain Proteins/genetics , Hypoventilation/diagnosis , Hypoventilation/genetics , Hypoventilation/therapy , Transcription Factors/genetics , Mutation , Sleep Apnea, Central/diagnosis , Sleep Apnea, Central/genetics , Sleep Apnea, Central/therapy
8.
Curr Neurol Neurosci Rep ; 23(3): 25-32, 2023 03.
Article in English | MEDLINE | ID: mdl-36790642

ABSTRACT

PURPOSE OF REVIEW: This paper reviews how sleep is impacted in patients with Prader-Willi syndrome (PWS), focusing on sleep-related breathing disturbances and excessive daytime sleepiness (EDS). RECENT FINDINGS: Hypothalamic dysfunction may underlie several aspects of the PWS phenotype. Central sleep apnea (CSA) can persist beyond infancy. Nocturnal hypoventilation is common and may occur without central or obstructive sleep apnea (OSA). Adenotonsillectomy, a mainstay of OSA treatment, may cause velopharyngeal insufficiency. Growth hormone (GH) is considered safe, but close surveillance for OSA remains important. Cardiac autonomic dysfunction occurs during slow wave sleep and may increase the risk of cardiovascular events. EDS and narcolepsy are also common. Modafinil and pitolisant are treatment options currently being studied. Sleep disorders are prevalent in individuals with PWS. Sleep-related breathing disorders present as CSA in infancy and later in life as OSA and hypoventilation. GH therapy has improved the clinical outcomes of patients with PWS, but close surveillance and treatment for OSA is recommended. EDS can persist even after sleep-related breathing disorders are treated, and some individuals may even develop narcolepsy. Early recognition and treatment of sleep-related disorders may prevent morbidity and result in improved survival of patients with PWS.


Subject(s)
Disorders of Excessive Somnolence , Narcolepsy , Prader-Willi Syndrome , Sleep Apnea, Obstructive , Humans , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/epidemiology , Hypoventilation/complications , Polysomnography/adverse effects , Sleep , Disorders of Excessive Somnolence/complications
9.
Clin Auton Res ; 33(3): 231-249, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36403185

ABSTRACT

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.


Subject(s)
Homeodomain Proteins , Transitional Care , Child , Humans , Adolescent , Young Adult , Homeodomain Proteins/genetics , Mutation , Transcription Factors/genetics
10.
Sleep Breath ; 27(2): 505-510, 2023 05.
Article in English | MEDLINE | ID: mdl-35554785

ABSTRACT

PURPOSE: Patients with congenital central hypoventilation syndrome (CCHS) have autonomic dysfunction and lack ventilatory responses to hypoxemia and hypercarbia and thus are prone to adverse events during general anesthesia. The objective of this study was to describe the perioperative outcomes of patients with CCHS who were undergoing diaphragm pacer (DP) implantation surgeries under general anesthesia. METHODS: A retrospective cohort study was conducted on patients with CCHS who underwent DP implantation surgeries at CHLA between January 2000 and May 2016. Charts were reviewed for demographics, PHOX2B genotype, ventilatory support, comorbidities, anesthesia administered, and perioperative courses. RESULTS: Of 19 patients with CCHS (58% female) mean age at surgeries was 8.6 ± 5.8 years. Seventeen patients were ventilator-dependent during sleep only; two were ventilator dependent 24 h per day. Mean surgery duration was 3.1 ± 0.5 h. Seventeen patients were extubated to PPV via tracheostomy in the OR. Two patients were extubated to NPPV on postoperative day (POD) 1. Mean transition time to home ventilator or NPPV was 3.0 ± 2.2 days, and mean hospital stay was 5.0 ± 2.1 days. One patient premedicated without ventilatory support developed hypoxemia and hypoventilation. Ten patients (52%) had intraoperative events such as bradycardia, hypotension, significant hypoxemia, and bronchospasm. Fifteen patients had postoperative events. Hypoxemia, pneumonia, and atelectasis accounted for most of perioperative complications. One patient experienced seizure on POD 2 due to hypercarbia. CONCLUSION: Patients with CCHS are vulnerable to the cardiorespiratory effects of sedative and anesthetic agents. Therefore, they require vigilant monitoring and optimal ventilatory support in the perioperative period.


Subject(s)
Hypoventilation , Sleep Apnea, Central , Humans , Female , Child, Preschool , Child , Adolescent , Male , Hypoventilation/congenital , Retrospective Studies , Hypoxia/complications , Anesthesia, General , Homeodomain Proteins/genetics
11.
Sleep Breath ; 26(3): 1277-1280, 2022 09.
Article in English | MEDLINE | ID: mdl-34506013

ABSTRACT

PURPOSE: Congenital Central Hypoventilation Syndrome (CCHS) requires lifelong ventilatory support during sleep. Subjects with CCHS are vulnerable to sleep disturbances associated with treatments, monitoring alarms, and care they receive. We hypothesized that sleep would be disrupted in patients  with CCHS due to ventilatory support and other treatments at night. METHODS: An anonymous survey of patients with CCHS, age up to 17 years was conducted through REDCAP. Subjects were recruited in person, by flyer, email, and social media. Data collected included demographics, PHOX2B genotype, ventilatory support, treatments, nursing, and sleep parameters. RESULTS: We received 23 responses (35% female, 8.1 years ± 5.6). PHOX2B genotypes were 20/24 PARM (2), 20/25 PARM (4), 20/26 PARM (2), 20/27 PARM (9), ≥ 20/28 PARM (2), and NPARM (2). Two subjects did not indicate the PHOX2B genotype. 13/23 were ventilated by PPV via tracheostomy, 7 by NIPPV, 2 by diaphragm pacing, and 1 did not indicate. Additional treatments received at night included suctioning (9), aerosol (1), G-tube feeding (2), and none (11). Only 9 received nursing at night. 13 used pulse oximetry for monitoring, and 9 used both pulse oximetry and end tidal CO2 monitor. 17/23 rarely woke up due to ventilator or monitor alarms. 11/23 usually or sometimes woke up at least once a night; only 2/11 woke up due to alarms. 5/17 who rarely woke up to the alarms had night nursing. CONCLUSION: Most subjects with CCHS did not awaken to ventilator or monitoring alarms and a majority of these patients did not have nighttime nursing. (Mathur et al. in Sleep 43(Supplement_1):A333, 2020).


Subject(s)
Hypoventilation , Sleep Apnea, Central , Adolescent , Child , Child, Preschool , Female , Homeodomain Proteins , Humans , Hypoventilation/congenital , Male , Respiration, Artificial , Transcription Factors , Ventilators, Mechanical
12.
Pediatr Pulmonol ; 57(3): 682-685, 2022 03.
Article in English | MEDLINE | ID: mdl-34910378

ABSTRACT

INTRODUCTION: Acute flaccid myelitis (AFM) is a rare disease that affects spinal cord gray matter, results in acute flaccid weakness of one or more limbs and predominantly involves the cervical spinal cord, which places patients at higher risk for respiratory failure. Our study aims to describe respiratory failure in pediatric AFM patients with emphasis on the need for assisted ventilation and respiratory nerve involvement from an acute and long-term perspective. MATERIALS AND METHODS: We reviewed the medical records of patients diagnosed with AFM seen in a multidisciplinary clinic for persistent limb weakness between 2016 and 2020. RESULTS: We studied 54 patients, 35% were female. The median age of patients at illness onset was 5 years (range 7 months-19 years). The median age of patients at the time of study was 8.5 years (range 2-20 years). Eleven patients (20%) required assisted ventilation for acute respiratory failure. Of those that experienced acute respiratory failure, 81% developed chronic respiratory failure. Fifty-six percent of patients with chronic respiratory failure were able to wean off assisted ventilation by 1 year. All patients that experienced unilateral diaphragm impairment with AFM onset experienced acute and chronic respiratory failure. DISCUSSION: Many patients with AFM may experience respiratory compromise and develop chronic respiratory failure. However, most of these patients can be weaned off ventilatory support by 1 year from illness onset. Most children with unilateral diaphragm impairment can sustain adequate ventilation without the need for long-term ventilatory support.


Subject(s)
Central Nervous System Viral Diseases , Myelitis , Neuromuscular Diseases , Respiratory Insufficiency , Adolescent , Adult , Central Nervous System Viral Diseases/complications , Central Nervous System Viral Diseases/diagnosis , Child , Child, Preschool , Female , Humans , Infant , Male , Myelitis/diagnosis , Myelitis/etiology , Neuromuscular Diseases/complications , Neuromuscular Diseases/diagnosis , Respiratory Insufficiency/etiology , Respiratory Insufficiency/therapy , Young Adult
13.
J Clin Sleep Med ; 18(3): 949-952, 2022 Mar 01.
Article in English | MEDLINE | ID: mdl-34846295

ABSTRACT

Congenital central hypoventilation syndrome is a rare genetic disorder affecting ventilatory response to hypercapnia and/or hypoxemia. We describe a case of diaphragm pacing (DP) failure in a 38-year-old woman with congenital central hypoventilation syndrome who used DP as ventilatory support only during sleep for 24 years. Diagnostic evaluation began with examination of external DP equipment, but adjustment did not elicit adequate diaphragm contractions. Clinical evaluation and transtelephonic monitoring showed absent function of the right pacer and diminished function of the left pacer. The patient had surgical exploration of her internal DP components. The operation revealed that the right pacer receiver had significant circumferential calcium accumulation. After replacement of the receivers in subcutaneous pockets closer to the skin surface, robust diaphragm contractions bilaterally occurred with stimulation. This case suggests DP failure can result from development of calcification and increased distance from the skin surface to the receivers due to weight gain. CITATION: Kwon A, Lodge M, McComb JG, et al. An unusual cause of diaphragm pacer failure in congenital central hypoventilation syndrome. J Clin Sleep Med. 2022;18(3):949-952.


Subject(s)
Electric Stimulation Therapy , Sleep Apnea, Central , Adult , Diaphragm , Female , Humans , Hypoventilation/complications , Hypoventilation/congenital , Hypoventilation/diagnosis , Hypoventilation/therapy , Sleep Apnea, Central/complications , Sleep Apnea, Central/therapy
14.
J Clin Sleep Med ; 17(10): 2049-2055, 2021 10 01.
Article in English | MEDLINE | ID: mdl-33983112

ABSTRACT

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting the autonomic nervous system that is caused by variants in the paired-like homeobox 2B (PHOX2B) gene. About 10% of patients with CCHS have nonpolyalanine repeat mutations (NPARM) that are associated with severe phenotypes requiring continuous assisted ventilation, Hirschsprung's disease, and increased neural crest tumor risk. However, some patients with NPARM have milder phenotypes. Our objective was to describe the phenotypes in patients with CCHS PHOX2B NPARM. METHODS: Retrospective case series of patients with CCHS PHOX2B NPARM was conducted at 2 children's hospitals to evaluate their phenotypes. RESULTS: We identified 8 patients with CCHS PHOX2B NPARM aged 3-31 years. Seven patients were diagnosed in infancy and 1 patient at 2 years of age. All patients presented with respiratory depression in the first 2 months of life. Only 1 patient was identified with a severe phenotype requiring continuous assisted ventilation, Hirschsprung's disease, and a neural crest tumor, which was resected. Five patients required positive pressure ventilation via tracheostomy only during sleep and 2 patients required oxygen only during sleep. Four patients had Hirschsprung's disease and 1 patient had a cardiac pacemaker due to a bradyarrhythmia. None of the patients had echocardiographic abnormalities. CONCLUSIONS: Patients with CCHS PHOX2B NPARM can have variable phenotypes, emphasizing the importance of implementing a plan of care that is individualized for each patient. The type of NPARM and their respective location on the PHOX2B gene may play a critical role in the severity of phenotypes displayed by each patient. CITATION: Kasi AS, Li H, Jurgensen TJ, Guglani L, Keens TG, Perez IA. Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations. J Clin Sleep Med. 2021;17(10):2049-2055.


Subject(s)
Homeodomain Proteins/genetics , Hypoventilation , Sleep Apnea, Central , Transcription Factors/genetics , Humans , Hypoventilation/congenital , Hypoventilation/genetics , Mutation , Phenotype , Retrospective Studies , Sleep Apnea, Central/complications , Sleep Apnea, Central/genetics
16.
Eur J Pediatr ; 180(2): 469-473, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33113016

ABSTRACT

Congenital central hypoventilation syndrome (CCHS) is an autonomic nervous system dysfunction due to PHOX2B gene mutation. Little is known about gastrointestinal motility disorders in CCHS patients. This study aims to describe the spectrum of gastrointestinal motility disorders in CCHS and provide PHOX2B genotype-phenotype correlation with Hirschsprung Disease (HD). We reviewed the records of 72 CCHS patients seen at Children's Hospital Los Angeles from 1999 to 2019. Data collected included demographics, PHOX2B genotype, ventilator dependence, medical and surgical history, and gastrointestinal motility studies. Of the 72 patients, 31% had HD, 50% females, and 60% had 20/27 PARM. Rectosigmoid HD formed 73% of the cases whereas long segment (up to splenic flexure involvement) forms represented 23%. Four patients had total colonic aganglionosis, including one patient with 20/25 PARM genotype. One HD patient was identified with colonic myopathy in the residual segment. One patient was found to have achalasia type 1.Conclusion: Nearly one third of our CCHS patients had HD. Although most had 20/27 PARM, 2 patients had 20/25 PARM. Thus, CCHS patients with constipation are at risk for HD regardless of genotype. Colonic myopathy may coexist in treated HD with refractory constipation. Achalasia may occur in patients with CCHS. What is Known: • Patients with CCHS have motility disorders and present with esophageal dysmotility and constipation as a manifestation of their autonomic nervous system dysfunction. • About 20% of patients with CCHS have Hirschsprung disease and previously described to be associated with NPARM and 20/27 PARM genotype. What is New: • Thirty-one percent of CCHS patients in our series have Hirschsprung disease (HD). • HD, including the more severe total colonic aganglionosis was found in a patient with 20/25 PARM genotype suggesting that CCHS patients with constipation should be screened for HD regardless of genotype.


Subject(s)
Hirschsprung Disease , Sleep Apnea, Central , Child , Female , Gastrointestinal Motility , Hirschsprung Disease/complications , Hirschsprung Disease/genetics , Homeodomain Proteins/genetics , Humans , Hypoventilation/congenital , Male , Mutation
17.
Am J Obstet Gynecol MFM ; 2(4): 100237, 2020 11.
Article in English | MEDLINE | ID: mdl-33345936

ABSTRACT

BACKGROUND: Congenital central hypoventilation syndrome is a rare genetic disorder of autonomic regulation of breathing resulting from mutations in the paired-like homeobox gene. Individuals with congenital central hypoventilation syndrome demonstrate an absent or diminished physiological response to hypercapnia and hypoxia that is most severe during sleep and depend on mechanical ventilation to maintain normal gas exchange. Increased disease awareness and availability of paired-like homeobox gene testing has improved congenital central hypoventilation syndrome morbidity and mortality, and patients are now living into adulthood. During pregnancy, delivery, and the postpartum period, women with congenital central hypoventilation syndrome are vulnerable to developing respiratory insufficiency. Currently, there is no standardized approach to monitoring ventilatory status and anticipating the need for changes to existing ventilatory support for women with congenital central hypoventilation syndrome during pregnancy, labor, and delivery. OBJECTIVE: This study aimed to characterize current practices for monitoring ventilatory status and managing ventilatory needs in women with congenital central hypoventilation syndrome during pregnancy; identify specific circumstances through which ventilation may be compromised during pregnancy, delivery, and postpartum; evaluate utilization of prenatal congenital central hypoventilation syndrome testing; and report any adverse pregnancy outcomes. STUDY DESIGN: We conducted an anonymous cross-sectional survey of women with congenital central hypoventilation syndrome with current or prior pregnancy. The 26-item electronic questionnaire included questions on congenital central hypoventilation syndrome genotype; number and outcome of pregnancies; use of mechanical ventilation; and issues with or adjustments made to ventilation during pregnancy, delivery, and the postpartum period. RESULTS: We received 10 responses. Three patients were not diagnosed with congenital central hypoventilation syndrome until after pregnancy and delivery. The 7 patients with a preexisting congenital central hypoventilation syndrome diagnosis reported information on 10 total pregnancies. At baseline, patients relied on various types of ventilatory support including positive pressure ventilation via tracheostomy, bilevel noninvasive positive pressure ventilation, and diaphragm pacing by phrenic nerve stimulation. Polysomnography for objective assessment of nocturnal ventilation was not consistently utilized. Changes to baseline ventilatory support were required during 3 out of 10 pregnancies. In addition, 2 patients using diaphragm pacing reported discomfort with pacing during the third trimester or after cesarean delivery, prompting discontinuation of diaphragm pacing. In 1 instance, discontinuation of diaphragm pacing and lack of recognition of need for an alternative support method led to respiratory arrest and need for emergent resuscitation. All patients who were offered prenatal congenital central hypoventilation syndrome testing chose to undergo testing. Of note, 9 out of 10 pregnancies were carried successfully to term and 5 infants were diagnosed with congenital central hypoventilation syndrome. CONCLUSION: Women with congenital central hypoventilation syndrome may experience issues maintaining adequate ventilation during pregnancy, necessitating an adjustment of ventilator settings or use of an alternative type of ventilation. Objective assessment of nocturnal ventilation by means of polysomnography is an important part of congenital central hypoventilation syndrome pregnancy care to optimize maintenance of adequate gas exchange. Patients who rely on diaphragm pacing may experience discomfort with pacing during the later stages of pregnancy and after cesarean delivery. Anticipatory guidance and contingency planning for changing ventilatory needs should be discussed early in pregnancy. Prenatal congenital central hypoventilation syndrome testing should be offered to pregnant patients with congenital central hypoventilation syndrome to inform delivery decisions and prepare for the provision of advanced neonatal care.


Subject(s)
Hypoventilation , Sleep Apnea, Central , Adult , Cross-Sectional Studies , Female , Humans , Hypoventilation/congenital , Hypoventilation/diagnosis , Infant , Infant, Newborn , Phrenic Nerve , Pregnancy , Sleep Apnea, Central/diagnosis
18.
Eur J Pediatr ; 179(7): 1173, 2020 07.
Article in English | MEDLINE | ID: mdl-32048024

ABSTRACT

The publisher regrets that in the original published version of this article, one of the author's name was incorrectly presented as "Yaniv Bar Cohen". The correct presentation should have been "Yaniv Bar-Cohen" and is now presented correctly in this article.

19.
J Clin Sleep Med ; 16(3): 459-462, 2020 03 15.
Article in English | MEDLINE | ID: mdl-31992416

ABSTRACT

None: Diaphragm pacing (DP) by phrenic nerve stimulation is a modality of chronic ventilatory support in individuals with congenital central hypoventilation syndrome (CCHS). We report a 9-year-old girl with CCHS who uses DP without tracheostomy during sleep. Her parents report hypoxemia and hypercapnia related to positional changes of the body during sleep requiring frequent adjustment of pacer settings. Overnight polysomnography was performed to titrate DP settings that showed adequate gas exchange in the supine position, but intermittent hypoxemia and hypercapnia were noted in the left decubitus position without obstructive sleep apnea occurring. Subsequently, the DP amplitude settings were increased during polysomnography, thereby identifying and treating positional hypoxemia and hypercapnia in various body positions. Our case emphasizes the importance of polysomnography in children with CCHS using DP to monitor for sleep-disordered breathing and titration of DP settings to achieve optimal oxygenation and ventilation with different body positions during sleep.


Subject(s)
Electric Stimulation Therapy , Sleep Apnea, Central , Child , Diaphragm , Female , Humans , Hypoventilation/complications , Hypoventilation/congenital , Hypoventilation/therapy , Sleep Apnea, Central/complications , Sleep Apnea, Central/therapy
20.
Res Sports Med ; 28(4): 498-506, 2020.
Article in English | MEDLINE | ID: mdl-31971011

ABSTRACT

The National Sleep Foundation recommends that adolescents (age 14-17 years) sleep 8 to 10 hours per night. Sleep loss is associated with cognitive dysfunction, decreased reaction time, and poorer athletic performance. This study evaluated the effects of sleep on sports injury rate and academic and cognitive performance. Seventeen high school track and field athletes (7 males, 10 females, mean age 15.9 years) wore an actigraph device for 10 weeks and performed a computerized neurocognitive assessment. Overall, 900 nights of nocturnal sleep data were analysed. Total minutes in bed averaged 501 minutes (8 hours and 21 minutes) and total sleep time averaged 378 minutes (6 hours and 18 minutes). Statistically significant correlations were observed between mean total sleep time and age-adjusted scores for the neurocognitive domains of episodic memory (p = .03) and fluid cognition (p = .03). Sleep loss in student-athletes may result in greater cognitive difficulties and impair academic abilities in the classroom.


Subject(s)
Academic Performance , Athletic Injuries/physiopathology , Athletic Injuries/psychology , Athletic Performance/physiology , Athletic Performance/psychology , Cognition/physiology , Sleep/physiology , Actigraphy/methods , Adolescent , Female , Humans , Male , Reaction Time , Sleep Deprivation/physiopathology , Wearable Electronic Devices
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