Long-term Ventilation Research Articles

Candidacy Decisions for Long-term Ventilation.

Decisions to initiate long-term ventilation (LTV) in children with severe neurologic impairment have recently been subject to candidacy determinations by home ventilation teams that exclude patients based on their neurologic status alone. Determinations of whether decisions are inappropriate require careful analysis of specific clinical circumstances and attention to the family's values. In this Ethics Rounds, we present a case of a previously healthy child who sustained an acute severe anoxic brain injury and was assessed by the medical team to have a high likelihood of remaining minimally conscious or unconscious. It was determined that he was not a candidate for LTV based on the severity of neurologic impairment. The family disagreed and declined withdrawal of ventilatory support. Drawing upon our backgrounds in intensive care, pulmonology, and bioethics, we offer commentary on utilizing a candidacy-based approach for LTV decisions in children with severe neurologic impairment from variable perspectives, including clinical determinations of inappropriate care, ablest biases and discrimination, and obligations to maintain a just process.

Effects of Family Caregiver-Nurse Communication on Family Management and Family Caregiver Uncertainty Regarding the Care of Children With Long-Term Ventilator Dependence.

Nurses caring for hospitalized children with long-term ventilator dependence (LTVD) assess family management capability and teach new skills through communication with family caregivers. This theoretically-based quantitative, descriptive study aimed to determine the communication behaviors associated with family caregiver uncertainty and management of the child with LTVD's care after discharge. One hundred families and 48 nurses enrolled. Family caregiver-nurse conversations were recorded and transcripts coded for communication behaviors. Family management and uncertainty data were gathered during hospitalization and after discharge. Data analysis included correlations and linear mixed models. Family caregivers and nurses used advocating and negotiating roles communication behaviors least frequently; however, these communication behaviors were associated with the most aspects in terms of uncertainty about the child's condition and ease of management of the child's care after discharge to home. Nurses should assess family caregiver ease in managing care, provide support, and engage in collaborative problem-solving through respectful communication.

Tracheostomy Cuff Herniation following Cardiac and Pulmonary Arrest

Tracheostomy is a common procedure performed on patients who require long-term airway maintenance and ventilation support. It is preferred over endotracheal intubation due to its reduced airway resistance, lower risk of displacement compared with the endotracheal tube, increased patient comfort, improved weaning from mechanical ventilation, and enhanced suction capabilities. According to the literature, patients needing airway support for fewer than 12 days can undergo translaryngeal intubation, while tracheostomy is indicated for patients requiring ventilatory support for more than 20 days. Although tracheostomy is frequently performed in ICUs and operating rooms, several complications can arise following the procedure. These complications include leakage, obstruction of the tracheal tube, minor or major bleeding or oozing, barotrauma, infections, tracheoesophageal fistula, stenosis, and injury to surrounding peripheral tissues such as arteries, veins, and nerves.1 While herniation of the endotracheal cuff is a more common cause of airway obstruction and hypoxia, tracheostomy tube cuff herniation is a rare complication of this procedure.1-7 In this report, we present a rare case of cardiopulmonary arrest following the implantation of a tracheostomy tube cuff in a female patient and its management.

PP224 Topic: AS21–Post-PICU: Patient and Family Outcomes/Chronic Critical Illness/Post Intensive Care Syndrome in Pediatrics (PICS-p)/Post-discharge Care Delivery Models/Other: INITIATION OF LONG-TERM VENTILATION (LTV) IN A PICU: NURSING PERSPECTIVE ON A POINT OF CARE

PP224 Topic: AS21–Post-PICU: Patient and Family Outcomes/Chronic Critical Illness/Post Intensive Care Syndrome in Pediatrics (PICS-p)/Post-discharge Care Delivery Models/Other: INITIATION OF LONG-TERM VENTILATION (LTV) IN A PICU: NURSING PERSPECTIVE ON A POINT OF CARE

Comparison of oronasal and nasal mask in home mechanical ventilation: observational cohort and bench study.

In patients with chronic respiratory failure, home non-invasive ventilation (NIV) is delivered through nasal or oronasal masks. Masks are a cornerstone for NIV success but can be associated with side effects. However, the type, the frequency and the consequences of these side effects are unknown. Here, we aimed to study the prevalence, nature, and impact of mask-related adverse events in a cohort of stable patients. We then investigated differences between oronasal and nasal masks both in our cohort and in a bench study. Prospective observational cohort including patients established on long-term non-invasive ventilation admitted for their elective review. Data regarding mask-related side effects were assessed using a structured questionnaire. Our bench study was performed using a 3-D printed head connected to an artificial lung. Eight hundred patients were included of whom, 84% had a oronasal mask. Moderate to very severe mask-related side effects occurred in 47% of patients and severe to very severe side effects occurred in 18%. Side effects were associated to a poorer daytime PaCO2 (p=0.005), poorer subjective sleep quality (p=0.003), poorer quality of life (p<0.001). Mask-related side effects were more frequently reported with the use of oronasal masks as compared to nasal masks (p=0.023). Our bench study showed that nasal masks were more stable than oronasal masks (p<0.001). Mask-related side effects are frequent and associated with poorer outcome. Our data suggest that nasal masks may have a better tolerance profile and should be used as a first-line interface.

Ultrasound-Guided Percutaneous Tracheostomy in Cardiovascular and Thoracic Surgery of South Korea: Retrospective Evaluation of Efficacy and Safety in Critically Ill Patients.

In intensive care settings, the maintenance of ventilation is typically essential. Tracheostomy is frequently performed to facilitate long-term ventilation and to minimize associated complications. This procedure can be conducted using several techniques, including traditional surgery, endoscopic approaches, and ultrasound-guided methods. We retrospectively examined data from all patients admitted to the intensive care unit of our institution who underwent ultrasound-guided percutaneous tracheostomy (UPCT) between March 2018 and April 2023. The study included a total of 81 patients aged 15 years or older. To assess the incidence of complications, we classified these issues as either minor or major, with major complications encompassing events such as bleeding necessitating blood transfusion. The most frequent minor complication was bleeding that did not require blood transfusion, which occurred in 15 patients (18.5%). Major complications were identified in 7 patients (8.6%), all of whom experienced bleeding that necessitated transfusion. However, we noted no cases of infection, conversion to open surgery, or tracheal stenosis surgery. The complication rate did not significantly differ from those reported in previous studies. These results indicate that UPCT can be safely used in critically ill patients, although further research on this topic is needed.

A Novel Approach for Tetralogy of Fallot-Absent Pulmonary Valve Using Bioresorbable Airway Splints.

Tetralogy of Fallot with absent pulmonary valve (ToF-APV) is associated with severe tracheobronchomalacia (TBM) and significant airway compromise. These patients often require early repair with right ventricle-to-pulmonary artery conduit, pulmonary arterioplasty, tracheostomy, and long-term ventilator support. A bioresorbable, 3D-printed airway splint has shown early success in treating severe TBM and has the potential to obviate the need for early repair with conduit and tracheostomy. A retrospective case series analysis was conducted on consecutive patients with ToF-APV and severe TBM who underwent airway splinting between 2012 and 2021. Clinical data was extracted from the medical record. Patients were grouped and analyzed according to their sequence of procedures. Eight patients with ToF-APV and severe TBM underwent airway splinting with a median follow up of 3.6years (range 1.0-6.4). All patients were alive at the most recent follow-up. Five patients underwent complete cardiac repair first, and one patient underwent concurrent complete cardiac repair and airway splinting. All six of these patients required tracheostomy and long-term ventilator support, even after airway splinting. Five of six remained on ventilator support at the most recent follow up. Two patients underwent airway splinting before complete cardiac repair. Neither required tracheostomy nor prolonged ventilatory support (p = 0.036). Both were discharged home in the neonatal period and returned as infants to undergo elective ToF-APV repair. Patients with TOF-APV and severe TBM may be able to avoid early repair with conduit placement and tracheostomy by undergoing airway splinting prior to complete cardiac repair.

The Effect of Opioids and Benzodiazepines on Exacerbation Rate and Overall Survival in Patients with Chronic Obstructive Pulmonary Disease on Long-Term Non-Invasive Ventilation.

Background: There is a growing concern that opioids and benzodiazepines can depress the respiratory drive and could contribute to worsening respiratory failure and higher exacerbation frequency in COPD. However, the relationship between the exacerbation rate and medication taken is poorly understood in patients with chronic respiratory failure due to COPD. Methods: As part of a service evaluation project, we analysed 339 patients with COPD who were established on long-term non-invasive ventilation (LT-NIV) at our tertiary centre. We investigated the relationship between benzodiazepine and opioid prescription and clinical outcomes as well as their impact on the exacerbation rate and overall survival following setup. Results: Before LT-NIV setup, 40 patients took benzodiazepines and 99 patients took opioids. Neither benzodiazepine nor opioid use was associated with changes in daytime blood gases, overnight hypoxia or annual exacerbations before NIV setup, but patients taking opioids were more breathless as assessed by modified Medical Research Council scores (3.91 ± 0.38 vs. 3.65 ± 0.73, p < 0.01). Long-term NIV significantly reduced the number of yearly exacerbations (from 3.0/2.0-5.0/ to 2.8/0.71-4.57/, p < 0.01) in the whole cohort, but the effect was limited in those who took benzodiazepines (from 3.0/2.0-7.0/ to 3.5/1.2-5.5/) or opioids (3.0/2.0-6.0/ to 3.0/0.8-5.5/). Benzodiazepine use was associated with reduced exacerbation-free survival and overall survival (both p < 0.05). However, after adjustment with relevant covariates, the relationship with exacerbation-free survival became insignificant (p = 0.12). Opioids were not associated with adverse outcomes. Conclusions: Benzodiazepines and opiates are commonly taken in this cohort. Whilst they do not seem to contribute to impaired gas exchange pre-setup, they, especially benzodiazepines, may limit the benefits of LT-NIV.

An eight-year follow-up study of Home Invasive Mechanical Ventilation in Finland

BackgroundStudies on long-term invasive mechanical ventilation (IMV) via tracheostomy in chronic respiratory insufficiency are limited. The aim of this study was to clarify the use of HIMV (home invasive mechanical ventilation) within the Finnish population and to analyze the characteristics and survival rate of HIMV patients from 2015 to 2022.MethodsData on HIMV patients was collected annually from all Finnish Hospital District patient registries between January 1, 2015, and December 31, 2022. Data included basic demographic data of the patients, underlying diagnosis, time from diagnosis to HIMV initiation, treatment duration, and mortality.ResultsThis study included 179 patients. In 2015, there were 107 HIMV patients, and as of December 31, 2022, there were 95 patients. During the eight-year follow-up period, 84 patients (46.9%) died and there were 67 new patients between 2015 and2022. The prevalence of HIMV treatment in Finland was 2.4/100,000 on January 1,2015, and 1.8/ 100 000 on December 31, 2022. The average number of years living with HIMV for deceased patients at death was 10.1 ± 10.5 years largely depending on the underlying diagnosis. Of all the HIMV treatments, 32% were elective.ConclusionsHIMV is a rare treatment in Finland, and based on our 8-year follow-up, prevalence of HIMV is diminishing. Given the high demands, and significant costs associated with HIMV, it is essential to prepare for long treatment, when planning HIMV. It is also advisable to prolong non-invasive ventilation (NIV) treatments for as long as possible.

Role of red blood cell (RBC) transfusions in patients with prolonged mechanical ventilation during weaning process

Patients undergoing long-term ventilation often show anemia. The aim of the study was to investigate the duration and success of weaning from mechanical ventilation in patients with RBC transfusion. A retrospective analysis of patient data from a weaning unit was performed. Transfused and non-transfused patients were matched using a propensity score. Of the 249 patients in the database, 31 transfused and the same number of non-transfused cases with similar disease severity as measured by the Simplified Acute Physiology Score (SAPS) could be analyzed. Additional sensitivity analyses were performed. In the group of transfused patients, the difference in weaning duration was longer than in non-transfused patients (1.35 days and 3.26 days, respectively). Weaning success also varied. The risk of weaning failure was twice as high in the group of transfused patients. The groups also differed in terms of mortality, 25.8% of the transfused patients died, while in the non-transfused patients the mortality rate was 6.5%. The risk of death was increased in patients who received RBC transfusion. The differences were not statistically significant. A high proportion of patients with prolonged mechanical ventilation have anemia. RBC transfusion does not improve their prognosis. The need for transfusion is associated with higher mortality and longer duration of weaning in this population. The indication for RBC transfusion should therefore be restrictive.

The Main Effects of the Original Oral Care Protocol Implementation in Patients on Invasive Mechanical Ventilation

Respiratory infection is the most common nosocomial infection found in intensive care units (ICUs). Dental plaques and oral mucosa can be colonized by respiratory pathogens within a few days after tracheal intubation. Oral care plays an important role in reducing the incidence of ventilator-associated infections.Aim of the study. To evaluate clinical effectiveness of the original oral care protocol in ICU patients on invasive mechanical ventilation (IMV).Materials and Methods. A multicenter, open-label, randomized, prospective, controlled study was conducted in 55 surgical ICU patients on long-term mechanical ventilation. Oral care for patients in the study group (group 1, N=30) included brushing with disposable toothbrushes and rinsing with an aqueous solution of 0.05% chlorhexidine digluconate three times daily. In the control group (group 2, N=25), patients' oral care was performed twice a day using sterile cotton swabs soaked in 0.05% aqueous chlorhexidine digluconate solution. The results were statistically processed using IBM SPSS Statistics 21. The relative risk (RR) of events was calculated with a 95% confidence interval (95% CI). The 95% CIs for event density parameters such as incidence rate (IR) and incidence rate ratio (IRR) were calculated using the exact Poisson test.Results. The incidence of ventilator-associated pneumonia (VAP) was 13.6 cases [95% CI: 4.4; 31.7] per 1,000 ventilation days in group 1 and 23.6 cases [95% CI: 7.7; 55] per 1,000 ventilation days in group 2. The incidence of VAP was 1.74 times lower [95% CI: 0.4, 7.54] in group 1 vs. group 2 (P=0.398). The identity of oral and tracheal flora on day 7 was 20% in group 1 and 50% in group 2, RR=0.4, 95% CI: 0.165–0.973, P=0.037. Serum C-reactive protein levels were significantly lower in group 1 on day 7 of ventilation compared to group 2 (P=0.04).Conclusion. The original oral care protocol, based on toothbrushing 3 times daily with a set of disposable toothbrushes and 0.05% aqueous solution of chlorhexidine digluconate, is associated with a tendency to lower VAP incidence per 1000 days of ventilation, significantly lower similarity between oral and tracheal flora, and lower serum C-reactive protein levels on day 7 of IMV. Further research on various aspects of oral care in ICU patients is needed, especially in the absence of complete clinical guidelines and clearly effective strategies for the prevention of ventilator-associated infections.

Anesthetist's Perception Towards Submental Intubation: A Questionnaire Study.

Submental intubation allows for the passage of an endotracheal tube through the anterior floor of the oral cavity. This allows for adequate surgical access to the regions of the mouth and the nasal pyramid with minimal to no hindrance in airflow to the lungs. To explore the perception of an anaesthetist regarding the submental intubation. A questionnaire‑based prospective randomized analysis was formatted and carried out in Odisha, India, between 20 Jan 2023 and 20 may 2023. A self-structured questionnaire consisting of 16 questions was distributed to the anaesthetists of the medical colleges in Odisha. Out of 97, 42 (43%) male and 45 (46%) female were familiar with the submental infiltration technique. Among the participants, 56% females and 43% males have performed and assisted in a submental intubation procedure. None of them encountered any complications or adverse events related to submental intubation (p = 0.0001). Out of all, 20% females and 19% males were very confident in performing submental intubation. Submental intubation is a simple, safe, quick, and relatively harmless alternative to tracheostomy for securing the airway in selected patients with craniofacial trauma. Familiarity with the submental intubation technique will help the anaesthetists to avoid tracheostomy in selected patients with craniofacial trauma who do not require long-term mechanical ventilation. But, this procedure is technique sensitive as well.

Influenza and COVID-19 Vaccination Rates Among Children Receiving Long-Term Ventilation

This cohort study examines rates of vaccination for COVID-19 and for influenza among children receiving long-term home ventilation.

Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study.

Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemnogene abeparvovec; Zolgensma) on respiratory function in SMA-1 patients ventilated via tracheostomy pre-gene therapy. A prospective cohort study included 22 patients. Patients were weaned off ventilation for at least 8 h daily by optimizing ventilator settings and duration, using cough augmentation, managing excessive airway secretions, enhancing nutrition, screening for respiratory bacterial colonization, and treating infections. Gene therapy was administered at a median age of 26 (Q1: 18, Q3: 43) months with a mean follow-up period of 7.64 (SD: 6.50) months. Gene therapy was safe and effective in resolving paradoxical breathing, improving cough ability, reducing airway secretions, and enhancing CHOP-INTEND scores. The clinical assessment and management implemented pre-gene therapy were effective in safely weaning patients for at least 8 h off ventilation daily. Gene therapy at a late age was safe and effective over the short-term period; however, long-term follow-up is recommended. In conjunction with gene therapy, high-quality clinical care is beneficial and should be paired with gene therapy.

Étude des stratégies alternatives à la ventilation mécanique invasive dans le traitement de l’insuffisance respiratoire chronique d’origine neuromusculaire

IntroductionHome mechanical ventilation has significantly improved survival in patients with slowly progressive neuromuscular diseases and chronic respiratory failure. Specifically, the development of non-invasive ventilation (NIV) has provided a genuine alternative to tracheostomy ventilation for patients requiring long-term mechanical ventilation. MethodsPhD thesis from the university Paris Saclay prepared in the ERPHAN research unit (université Paris-Saclay, UVSQ) under the supervision of Frédéric Lofaso, professeur des universités. ResultsIn this thesis, we have evidenced that during the initiation of NIV in patients with slowly progressive NMD, the intensity of ventilatory parameters does not significantly affect daytime carbon dioxide level, as opposed to adherence, which is its main determining factor. We have also shown that the algorithms for automatic adjustment of the main ventilatory parameters are currently very heterogeneous and all raise important concerns. Independently of the ventilatory parameters, we have also highlighted the major impact of the configuration of the ventilation circuits on the efficiency of NIV. Finally, in the most severely affected and ventilator-dependent patients, we identified that quality of life, the main target of long-term ventilation, is more likely to be explained by the social and material environment than by the ventilation technique itself (invasive or non-invasive). DiscussionTechnological innovations in the field of home ventilation are constantly opening up new possibilities, making their evaluation and optimization an ongoing and sustainable clinical challenge.

Prolonged weaning after long-term ventilation due to SARS-CoV-2 infection: a multicenter retrospective analysis

Patients (n=751) with prolonged weaning (reason for ventilation "pneumonia" and "acute respiratory failure") from four centers for the period 2011-23 from the "WeanNet" registry were used as a matched group. The median duration of intensive medical care was 39 (25-68) days. In 19% (37/193) of patients, ECMO support was necessary for a median of 27 (18-51) days. In-hospital mortality was 8.3% (2.7% with vs. 9.6% without ECMO) and 6.8% died in the comparison group. At discharge, 84% (vs. 77% in the control group) were completely weaned and 2.6% (vs. 17.6% in the control group) of patients received non-invasive treatment. Invasive ventilation was still necessary in 7.8% (control group 15.7%). In the observation period of 6 months after discharge, 22.4% of patients required inpatient care and a further 14.1% after 12 months. The overall mortality at 12-month follow-up was 20,6% (5.6% with vs. 24.6% without ECMO). The mortality rate of ventilated patients with COVID-19 was very low at 8.3% in the four weaning centers studied. The mortality rate of patients with ECMO treatment was only 2.7%. The mortality rate in the control group was 7.3%. The lower mortality of patients with ECMO treatment was also evident at follow-up of up to 12 months.Patients with prolonged weaning who received invasive ventilation due to COVID-19 showed comparable results in terms of successful weaning and mortality compared to a control group from the WeanNet registry. The long-term results with a survival of more than 80% for the first year after discharge were encouraging.

Long-term health-related quality of life of patients after prolonged weaning depending on weaning status

Long-term outcome in patients with prolonged weaning is known to be impaired, particularly against the background of their weaning status; however, data on their health-related quality of life (HRQL) are sparse. HRQL was measured in patients with prolonged weaning using the Severe Respiratory Insufficiency Questionnaire (SRI). Overall, 39 out of 83 patients with prolonged weaning filled in the SRI questionnaire. The median interval between discharge from hospital and HRQL assessment was 3.5 years (IQR 2.4-4.5 years). In the total group, the median SRI summary score was 56.4 (IQR 38.8-73.5). Patients with unsuccessful weaning and subsequent invasive home mechanical ventilation (N=15) had worse HRQL as estimated from the SRI summary score when compared to those with successful weaning both without (n=13) and with subsequent long-term non-invasive ventilation (NIV) (n=11); Kruskal-Wallis-Test: H (2, n=39) = 7,875446; P=0.0195. Statistically significant differences indicating worse HRQL in patients with invasive home mechanical ventilation were particularly evident in the following SRI subscales: Social relationships (P=0.0325), Anxiety (P=0.0096), and Psychological well-being (P=0.0079). HRQL is substantially impaired in patients with unsuccessful prolonged weaning and subsequent invasive home mechanical ventilation compared to those with successful prolonged weaning. Further studies incorporating higher case numbers are needed to assess other conditions potentially affecting HRQL in patients with prolonged weaning.

New noninvasive modalities in long-term pediatric ventilation: a scoping review.

Long-term noninvasive ventilation modalities for the pediatric population have undergone a continuous evolution. Hybrid noninvasive ventilation modalities have been recently introduced in clinical practice. Combining the advantages of conventional ventilation, hybrid modes use algorithms that automatically adjust the ventilator's settings to achieve a predefined ventilation target. Most of the recommendations on the use and settings of hybrid noninvasive ventilation modalities in children are derived from adult experience. Therefore, there is a lack of evidence on its implementation in pediatric chronic respiratory diseases. This scoping review aims to map the existing information regarding the use of hybrid ventilation modalities in the pediatric population and identify knowledge or research gaps. We performed a literature search using MEDLINE and Pubmed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. We included 13 studies (ten studies on average volume-assured pressure-support ventilation; two studies on intelligent volume-assured pressure-support ventilation; and one study on adaptive servoventilation). The use of new noninvasive ventilation modes in the pediatric population has been applied for the treatment of neuromuscular and hypoventilation syndromes as an alternative therapeutic option in the case of the failure of conventional noninvasive ventilation. Their widespread use has been hampered by the limited evidence available. Longitudinal studies on a larger number of patients are needed to confirm their effectiveness and evaluate their long-term clinical and functional outcomes.

Mechanical power density, spontaneous breathing indexes, and prolonged weaning failure: a prospective cohort study

A prospective observational study comparing mechanical power density (MP normalized to dynamic compliance) with traditional spontaneous breathing indexes (e.g., predicted body weight normalized tidal volume [VT/PBW], rapid shallow breathing index [RSBI], or the integrative weaning index [IWI]) for predicting prolonged weaning failure in 140 tracheotomized patients. We assessed the diagnostic accuracy of these indexes at the start and end of the weaning procedure using ROC curve analysis, expressed as the area under the receiver operating characteristic curve (AUROC). Weaning failure occurred in 41 out of 140 patients (29%), demonstrating significantly higher MP density (6156 cmH2O2/min [4402–7910] vs. 3004 cmH2O2/min [2153–3917], P < 0.01), lower spontaneous VT/PBW (5.8 mL*kg−1 [4.8–6.8] vs. 6.6 mL*kg−1 [5.7–7.9], P < 0.01) higher RSBI (68 min−1*L−1 [44–91] vs. 55 min−1*L−1 [41–76], P < 0.01) and lower IWI (41 L2/cmH2O*%*min*10−3 [25–72] vs. 71 L2/cmH2O*%*min*10-3 [50–106], P < 0.01) and at the end of weaning. MP density was more accurate at predicting weaning failures (AUROC 0.91 [95%CI 0.84–0.95]) than VT/PBW (0.67 [0.58–0.74]), RSBI (0.62 [0.53–0.70]), or IWI (0.73 [0.65–0.80]), and may help clinicians in identifying patients at high risk for long-term ventilator dependency.

Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction

BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare condition characterized by alveolar hypoventilation and autonomic nervous system (ANS) dysfunction requiring long-term ventilation. CCHS could constitute a risk factor of autism spectrum disorder (ASD) due to birth injury related to respiratory failure, which remains to be determined. ANS dysfunction has also been described in ASD and there are indications for altered contribution of ANS-central nervous system interaction in processing of social information; thus, CCHS could be a risk factor for ASD based on pathophysiological background also. Our study aimed to determine the prevalence of ASD among CCHS patients, identify risk factors, and explore the relationship between the ANS, evaluated by heart rate variability indices, and adaptative functioning.ResultsOur retrospective study, based on the analysis of records of a French national center of patients with CCHS under 20 years of age, determined that the prevalence of ASD (diagnosed by a psychiatrist, following the criteria of DSM-4 or DSM-5) was 6/69 patients, 8.7% (95% confidence interval: 3.3–18.0%). In a case (CCHS with ASD, n = 6) – control (CCHS without ASD, n = 12) study with matching on sex, longer neonatal hospitalization stay and glycemic dysfunction were associated with ASD. Adaptative functioning was assessed using Vineland Adaptative behavioral scales (VABS) and heart rate variability indices (including daytime RMSSD as an index of parasympathetic modulation) were obtained from ECG Holter performed the same day. In 19 young subjects with CCHS who had both ECG Holter and VABS, significant positive correlations were observed between RMSSD and three of four sub-domains of the VABS (communication: R = 0.50, p = 0.028; daily living skills: R = 0.60, p = 0.006; socialization: R = 0.52, p = 0.021).ConclusionOur study suggests a high prevalence of ASD in patients with CCHS. Glycemic dysfunction and longer initial hospitalization stays were associated with ASD development. A defect in parasympathetic modulation was associated with worse adaptative functioning.