Tracheostomy decannulation to noninvasive positive pressure ventilation in congenital central hypoventilation syndrome.

PURPOSE: Noninvasive positive pressure ventilation (NPPV) may permit tracheostomy decannulation (TD) in patients with congenital central hypoventilation syndrome (CCHS) requiring nocturnal positive pressure ventilation via tracheostomy (PPV-T). There is limited evidence on optimal strategies for transitioning patients from PPV-T to NPPV. This study aimed to describe the clinical course and outcome of children with CCHS who underwent TD and transitioned from PPV-T to NPPV. METHODS: Retrospective review was conducted on patients with CCHS using nocturnal PPV-T who underwent TD to NPPV. The results of clinical evaluations, airway endoscopy, polysomnography, and clinical course leading to TD were analyzed. RESULTS: We identified 3 patients with CCHS aged 8-17 years who required PPV-T only during sleep. Patients underwent systematic multidisciplinary evaluations with a pediatric psychologist, pulmonologist, sleep physician, and otolaryngologist utilizing a TD algorithm. These included evaluation in the sleep clinic, NPPV mask fitting and desensitization, endoscopic airway evaluation, daytime tracheostomy capping, acclimatization to low-pressure NPPV, polysomnography with capped tracheostomy and NPPV titration, and if successful, TD. All patients underwent successful TD following optimal titration of NPPV during polysomnography. The duration to TD from decision to pursue NPPV was between 2.4 and 10.6 months, and the duration of hospitalization for TD was between 4 and 5 days. There were no NPPV-related complications; however, all patients required surgical closure of tracheocutaneous fistula. CONCLUSION: NPPV may be an effective and feasible option for patients with CCHS requiring PPV-T during sleep and permits TD. In patients with CCHS, a systematic multidisciplinary algorithm may optimize successful transition to NPPV and TD.

Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome.

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by impaired control of breathing caused by paired-like homeobox 2B (PHOX2B) gene variants, necessitating lifelong assisted ventilation (AV). This study aimed to assess sleep quality in patients with CCHS and their parents using sleep questionnaires. METHODS: Parents of patients with CCHS completed the Pittsburgh Sleep Quality Index (PSQI) regarding their sleep and the Sleep Disturbance Scale for Children (SDSC) regarding their child's sleep. RESULTS: Twenty participants completed the questionnaires. The median (interquartile range) ages of the parents and patients were 41.5 (38.5-51.5) and 11.5 (7.4-16.7) years, respectively. The median (interquartile range) PSQI and SDSC scores were elevated at 6.5 (4-10) and 41.5 (34-51.5), respectively, suggesting that parents and patients with CCHS can experience sleep disturbances and poor sleep quality. There were no significant differences in SDSC (P = 1.0) and PSQI (P = .76) scores for AV with or without tracheostomy. Similarly, there were no significant differences in SDSC (P = .22) and PSQI (P = .34) scores based on PHOX2B genotypes. There was a moderately strong, significant, and positive correlation between the CCHS SDSC scores and parental PSQI scores (r = .48, P = .03), suggesting that sleep disturbances in patients with CCHS were associated with poor parental sleep quality. There was no difference in the median parental sleep duration between those with and without nighttime home nursing (P = .09). CONCLUSIONS: Patients with CCHS and their parents are at risk for sleep disturbances regardless of their AV modality and PHOX2B genotype. In addition to AV management, patients with CCHS and their parents should be assessed for sleep disturbances. CITATION: Finch CE, Leu RM, Harford K-L, Westbrook AL, Kasi AS. Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(3):549-554.

An in-patient model for positive airway pressure desensitization: a report of 2 pediatric cases.

Application of positive airway pressure is frequently indicated in pediatric patients with a diagnosis of obstructive sleep apnea. Adherence to equipment use is often less than optimal and can be more challenging when working with children with special needs. An in-patient protocol was designed utilizing various techniques and strategies from the medical adherence literature and applied to 2 cases. This protocol utilizes specialists from various disciplines, including respiratory therapists, psychologists, physicians, nurses, and child life therapists, as well as parental involvement. This paper outlines this protocol using 2 case studies. Both patients successfully used their equipment for greater than 4 hours at night by the end of their hospital stay of 4 days and maintained or advanced these gains at follow-up. These 2 cases suggest that more research should be conducted to further evaluate the effectiveness of similar programs.

Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B (PHOX2B) gene. Although most patients are diagnosed in the newborn period, an increasing number of patients are presenting later in childhood, adolescence, and adulthood. Despite hypoxemia and hypercapnia, patients do not manifest clinical features of respiratory distress during sleep and wakefulness. CCHS is a lifelong disorder. Patients require assisted ventilation throughout their life delivered by positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and/or diaphragm pacing. At different ages, patients may prefer to change their modality of assisted ventilation. This requires an individualized and coordinated multidisciplinary approach. Additional clinical features of CCHS that may present at different ages and require periodic evaluations or interventions include Hirschsprung's disease, gastrointestinal dysmotility, neural crest tumors, cardiac arrhythmias, and neurodevelopmental delays. Despite an established PHOX2B genotype and phenotype correlation, patients have variable and heterogeneous clinical manifestations requiring the formulation of an individualized plan of care based on collaboration between the pulmonologist, otolaryngologist, cardiologist, anesthesiologist, gastroenterologist, sleep medicine physician, geneticist, surgeon, oncologist, and respiratory therapist. A comprehensive multidisciplinary approach may optimize care and improve patient outcomes. With advances in CCHS management strategies, there is prolongation of survival necessitating high-quality multidisciplinary care for adults with CCHS.

Obstructive sleep apnea in pediatric obesity and the effects of sleeve gastrectomy.

The prevalence of severe pediatric obesity is rising and poses many adverse health risks. Children with obesity are at increased risk of several cardiovascular and metabolic diseases. They are also more likely to have obstructive sleep apnea (OSA), which increases the risk of cardiovascular and metabolic problems. In this review, we examine the relationship between OSA and obesity, improvements in OSA after non-surgical and surgical weight loss, and explore potential directions for future research.

Assessment of obsessive-compulsive disorder: a review.

Obsessive-compulsive disorder (OCD) affects approximately 2-3% of the adult population and is considered a debilitating and costly disorder, with associated impairments spanning the social, occupational, and familial domains. Although effective treatments of OCD exist, many individuals who suffer from OCD go undiagnosed or misdiagnosed, preventing them from obtaining appropriate treatment. As a result, making improvements to the assessment and diagnosis of OCD remains an important area of focus for research and clinical practice. This paper provides a critical review of instruments used in the assessment and diagnosis of OCD as well as a review of adjunctive measures used to assess associated symptoms. Types of instruments reviewed include diagnostic interviews, self-report questionnaires, family-report questionnaires, and clinician-administered inventories. Discussion of each instrument includes information regarding the pragmatics of administration and the psychometric properties of each instrument, as well as an evaluation of each instrument's strengths and weaknesses. We conclude by providing a synthesis of the literature and highlighting directions for future research.

The relationship between childhood sexual abuse and adult mental health among undergraduates: victim gender doesn't matter.

A large body of research has documented the harmful effects of childhood sexual abuse (CSA) on adult mental health among females, but less work has examined this issue among males. This study examined whether gender moderated the relationship between CSA and adult mental health among a mixed-gender sample of 406 undergraduates. A Pearson chi-square test indicated that a significantly greater proportion of females (41.6%) than males (30.7%) reported a history of CSA. ANCOVAs tested whether gender, CSA status, and their interaction were related to adult mental health symptomatology as measured by Brief Symptom Inventory gender-normed t scores. Participants with a history of CSA reported significantly higher levels of global mental health problems, hostility, paranoid ideation, and psychoticism. The gender by CSA status interaction was not significant for any scale, indicating that the harmful effects of CSA on adult mental health did not vary by gender.

Behaviorally based adherence program for pediatric patients treated with positive airway pressure.

OBJECTIVES: Positive Airway Pressure (PAP) devices are being increasingly used in pediatric populations for problems including Obstructive Sleep Apnea. There is limited literature regarding pediatric adherence with PAP treatment or successful interventions that improve adherence. This paper describes a clinical program for pediatric PAP users which was designed to improve adherence of patients prescribed PAP therapy and involves intensive assessment and behavioral intervention. METHOD: The design and implementation of the program is described, including the purpose, goals, programmatic structure, clinical content, type and training of personnel, strengths and limitations and financial concerns as well as the challenges with the development and application of the program's protocol. RESULTS: Preliminary outcome data show short-term improvements in consistent usage for many of the patients. CONCLUSIONS: The program shows some promise and provides a framework for future program development and research.