Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic ...dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.
Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence of adequate control of ...respiration during sleep. Here we report a PHOX2B mutational screening in 63 CCHS patients, 58 of whom presenting with poly-A expansions or frameshift, missense and nonsense mutations. To assess a somatic or germline occurrence of poly-A length variations, the relative amounts of mutant and wild type alleles have been quantified in 20 selected CCHS patients presenting with an expansion, and in their parents. Somatic mosaicism was shown in four parents, while no mosaic was found among CCHS patients. Moreover, while co-segregation analysis of the PHOX2B poly-A expansions with selected marker alleles in the same 20 CCHS trios has not demonstrated any parent-of-origin effect of the mutations, it has provided further clues to clarify the molecular mechanism underlying the expansion occurrence. Finally, the segregation of PHOX2B poly-A anomalous tracts within family members has allowed us to exclude tendency of polymorphic variations towards expansion. This strengthens the notion that expanded polyalanine tracts, identified as frequent disease-causing mutations also in other human diseases, are mitotically and meiotically stable. Published 2007 Wiley-Liss, Inc.
Background: Home care support is beneficial for children needing mechanical ventilation, when clinically stable.
Methods: A retrospective analysis was carried out of the long‐term home ventilation ...management of a pediatric population with chronic respiratory failure composed of 20 ventilator‐dependent children categorized according to age, diagnosis and ventilation support. Age groups consisted of 10% under 1 year, 30% between 2 and 5 years, 30% between 6 and 12 years, and 30% older than 12 years. Diagnostic categories included myopathic disorder, n = 5; congenital central hypoventilation syndrome, n = 6; chest wall disorder, n = 5; cystic fibrosis, n = 1; pulmonary hypertension, n = 1; and diaphragmatic paralysis, n = 2.
Results: Sixty‐five percent were ventilated using non‐invasive mode (NIMV): eight with nasal mask, five with full‐face mask, and two children in NIMV also used negative pressure mode; 35% were ventilated using tracheostomy, one of them also used a diaphragmatic pacer. Seventy percent needed nocturnal ventilatory support, (20% 12–18 h, 10% full‐day). A total of 18 children were included in the home care and follow‐up program. Two children died: one because of worsening of his chronic disease and one because of septic shock.
Conclusion: Although home care ventilation is not yet widely diffused, it represents a valid alternative to long hospitalization for children with stable chronic respiratory failure.
Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life.
A retrospective chart review was performed of SMA1 patients and their outcomes according ...to the following choices: letting nature take its course (NT); tracheostomy and invasive mechanical ventilation (TV); continuous noninvasive respiratory muscle aid (NRA), including noninvasive ventilation; and mechanically assisted cough.
Of 194 consecutively referred patients enrolled in this study (103 males, 91 females), NT, TV, and NRA were chosen for 121 (62.3%), 42 (21.7%), and 31 (16%) patients, respectively. Survival at ages 24 and 48 months was higher in TV than NRA users: 95% (95% confidence interval: 81.8%-98.8%) and 67.7% (95% confidence interval: 46.7%-82%) at age 24 months (P < .001) and 89.43% and 45% at age 48 months in the TV and NRA groups, respectively (P < .001). The choice of TV decreased from 50% (1992-1998) to 12.7% (2005-2010) (P < .005) with a nonstatistically significant increase for NT from 50% to 65%. The choice of NRA increased from 8.1% (1999-2004) to 22.7% (2005-2010) (P < .001).
Long-term survival outcome is determined by the choice of the treatment. NRA and TV can prolong survival, with NRA showing a lower survival probability at ages 24 and 48 months.
To assess how children requiring endotracheal intubation are mechanically ventilated in Italian pediatric intensive care units (PICUs).
A prospective, national, observational, multicenter, 6-month ...study.
Eighteen medical-surgical PICUs.
A total of 1943 consecutive children, aged 0-16 yrs, admitted between November 1, 2006 and April 30, 2007.
None.
Data on cause of respiratory failure, length of mechanical ventilation (MV), mode of ventilation, use of specific interventions were recorded for all children requiring endotracheal intubation for >24 hrs. Children were stratified for age, type of patient, and cause of respiratory failure. A total of 956 (49.2%) patients required MV via an endotracheal tube; 673 (34.6%) were ventilated for >24 hrs. The median length of MV was 4.5 days for all patients. If postoperative patients were excluded, the median time was 5 days. Bronchiolitis (6.7%), pneumonia (6.7%), and upper airway obstruction (5.3%) were the most frequent causes of acute respiratory failure, and altered mental status (9.2%) was the most frequent reason for MV. The overall mortality was 6.7% with highest rates for heart disease (nonoperative), sepsis, and acute respiratory distress syndrome (26.1%, 22.2%, and 16.7% respectively). Length of stay, associated chronic disease, severity score on admission, and PICU mortality were significantly higher in children who received MV (p < .05) than in children who did not. Controlled MV and pressure support ventilation + synchronized intermittent mandatory ventilation were the most frequently used modes of ventilatory assistance during PICU stay.
Mechanical ventilation is frequently used in Italian PICUs with almost one child of two requiring endotracheal intubation. Children treated with MV represent a more severe category of patients than children who are breathing spontaneously. Describing the standard care and how MV is performed in children can be useful for future clinical studies.
ObjectiveTo assess the feasibility of the family paediatrician’s (FP) role in identifying the signs of postpartum depression in parents in time to guarantee child well-being.Design, setting and ...participantsData for this observational prospective study were collected within the NASCITA (NAscere e creSCere in ITAlia) cohort. During the first visit, paediatricians collected sociodemographic data regarding the parents and information about their health status, the pregnancy and the delivery. Whooley questions were administered during the first and second visits (scheduled 60–90 days after childbirth). Moreover, on the third visit (5–7 months after childbirth) the FP was asked to answer ‘yes’ or ‘no’ to a question on the parental postpartum depression, based on his knowledge and on the acquired information.ResultsIn 2203 couples who completed the assessment, 529 mothers (19.9%), 141 fathers (6.3%) and 110 (5%) couples reported any depressive symptomatology. Of these, 141 mothers (5.3% of the total sample) and 18 fathers (0.8% of the total sample) were classified as ‘likely depressed’. An association was found between maternal postnatal depressive symptoms and having a diagnosed psychiatric disorder during pregnancy (OR 9.49, 95% CI: 3.20 to 28.17), not exclusively breastfeeding at hospital discharge (OR 1.76, 95% CI: 1.19 to 2.61) and the presence of child sleeping disorders at 3 (OR 2.46, 95% CI: 1.41 to 4.28) and 6 months (OR 2.18, 95% CI: 1.37 to 3.47). Another significant predictor of postpartum depression was being primiparous (OR 1.99, 95% CI: 1.31 to 3.02). Concerning the fathers, a significant association was reported only between likely depressed fathers and child sleeping disorders at 3 months (OR 7.64, 95% CI: 2.92 to 19.97). Moreover, having a likely depressed partner was strongly associated with depressive symptoms in fathers (OR 85.53, 95% CI 26.83 to 272.69).ConclusionsThe findings of this study support the feasibility of an active screening programme for parental postnatal depression during well-child visits as an integral part of postpartum care.Trial registration number NCT03894566; Pre-results.
PurposeThe NASCITA Study, a national-level, population-based, prospective cohort study, was set up to better understand the early health status of Italian children, comprising their physical, ...cognitive and psychological development, and how it is affected by social and health determinants, including nurturing care. NASCITA will also assess geographical differences and disparities in healthcare.ParticipantsParticipating family paediatricians from throughout Italy enrolled infants born during the enrolment period (April 2019–July 2020). The 5054 newborns seen by the 139 paediatricians for at least two visits, including the first well-child visit, and for whom parental consent was given, make up the baseline population.Findings to dateMothers had a mean age at delivery of 33.0 years and tended to have a high or medium level of education (42.5% university and 41.7% high school degrees) and to be employed (69.7%). One-third (36.1%) took folic acid supplementation appropriately, and 6.5% smoked or consumed alcohol (10.0%) during pregnancy. One-third (31.7%) of deliveries were caesarean deliveries. Concerning the newborns, 5.8% had a low birth weight and 6.2% were born prematurely. The majority (87.7%) slept in the supine position, and 63.6% were exclusively breast fed at 1 month, with a decreasing north to south prevalence (χ2t 52; p<0.001). Significant north–south differences were found in all areas, including parental education, behaviours in pregnancy and hospital practices. When compared with national level data, the cohort population’s distribution, maternal sociodemographic characteristics and newborn physical characteristics reflect those of the Italian population.Future plansData will continue to be collected during the well-child visits until the children are 6 years old, and multiple health outcomes will be studied, spanning child development and illness, as well as potentially related factors including caregiving routines. The findings will be used to develop specific interventions to improve children’s health.Trial registration numberNCT03894566.
Abstract Pediatric asthma management is a compelling challenge for every pediatrician. Different aspects require attention and definition. The present Intersocietal Survey aimed to collect real-world ...experiences from a sample of Italian pediatricians. A web platform was used to collect anonymous answers to the survey questions. Four hundred four pediatricians participated in this initiative promoted by the Italian Society of Pediatric Allergy and Immunology (SIAIP), the Society of Preventive and Social Pediatrics (SIPPS), and the Federation of Italian Pediatricians (FIMP). The results showed an extensive participation of primary care pediatricians (72%). There was a large consensus about diagnostic criteria and medication choice. However, treatment duration and device choice were various. Adherence to guidelines on general aspects of practical clinical management was high. In conclusion, the present Intersocietal Survey confirmed that pediatric asthma management is rather satisfactory, even if further improvement should concern a more widespread use of ICS for acute asthma/wheezing attacks, a better definition of the duration of ICS and bronchodilator use, and hospital-primary care integration.
The aim of this study was to report the outcomes of an oximetry protocol using up to continuous full ventilator-setting noninvasive ventilation (NIV) and mechanically assisted coughing (MAC) to avoid ...episodes of acute respiratory failure and hospitalizations for children with spinal muscular atrophy type 1 under 3 yrs of age.
This study was a retrospective chart review of 16 patients with spinal muscular atrophy type 1 under 3 yrs of age consecutively referred for respiratory decompensations resulting in continuous NIV dependence and oxyhemoglobin desaturation. An avoided hospitalization was defined by the need for continuous NIV using high span bilevel positive airway pressure and reversal of desaturations by MAC in the home setting. The protocol included training and equipping parents to use NIV, MAC, and basic life support.
There were 49 acute episodes (1.20/patient per year), of which 43 met the criteria for an avoided hospitalization. Therefore, only six episodes (0.15/patient per year) required hospitalization, and four required endotracheal intubation (0.1/patient per year). Three of the four were extubated after 4, 9, and 15 days, respectively, to full NIV support and aggressive MAC. The fourth patient, for whom NIV could not be provided, underwent an emergency intubation at home and died at the age of 40 mos.
A protocol including high span bilevel positive airway pressure along with MAC to expel airway secretions and normalize oxyhemoglobin saturation can be used by trained caregivers to avoid episodes of acute respiratory failure and hospitalization for children with spinal muscular atrophy type 1 under 3 yrs of age.
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