Need for palliative care from birth to infancy in pediatric patients with neurological diseases.

BACKGROUND: Palliative care is a comprehensive treatment approach that guarantees comfort for pediatric patients and their families from diagnosis to death. The techniques used for neurological patients in the field of palliative care can enhance the quality of care provided to patients with neurological disorders and support their families. PURPOSE: This study aimed to analyze the palliative care protocols in use in our department, describe the palliative course in the clinical setting, and propose the implementation of hospital palliative care for long-term prognosis of patients with neurological diseases. METHODS: This retrospective observational study examined the application of palliative care from birth to early infancy in neurological patients. We studied 34 newborns with diseases affecting the nervous system impairing prognosis. The study was conducted from 2016 to 2020 at the Neonatology Intensive Care Unit and the Pediatric Unit of the San Marco University Hospital in Catania, Sicily, Italy. RESULTS: Despite current legislation in Italy, no palliative care network has been activated to meet the needs of the population. In our center, given the vast number of patients with neurological conditions requiring palliative care, we should activate a straightforward departmental unit for neurologic pediatric palliative care. CONCLUSION: The establishment of specialized reference centers that manage significant neurological illnesses is due to neuroscience research progress in recent decades. Integration with specialized palliative care is sparse but now seems essential.

Early occurrence of obstructive sleep apnea in infants and children with cystic fibrosis.

OBJECTIVES: To assess the occurrence of sleep-disordered breathing, hypoxemia, and sleep architecture in a cohort of infants and children with cystic fibrosis (CF) and normal or mildly impaired lung function in stable clinical condition. DESIGN: Case-control study. SETTING: Cystic Fibrosis Unit of a university hospital and pediatric sleep laboratory. PARTICIPANTS: A total of 40 children (aged 6 months to 11 years) with CF in stable condition and 18 healthy age-matched control subjects. INTERVENTION: Nocturnal sleep and cardiorespiratory monitoring was performed using a full polysomnographic recording in a sleep laboratory. MAIN OUTCOMES MEASURES: Sleep architecture and respiratory variables. RESULTS: Although awake oxyhemoglobin saturation (SaO2) values were similar in the 2 groups (98%), the CF group had significantly lower values of nocturnal mean SaO2. The apnea-hypopnea index was significantly higher in the CF group compared with the controls (mean [SE], 7.3 [1.3] vs 0.5 [0.4], respectively, P < .001), particularly in preschool-aged children and in children with upper airway abnormalities. In addition, 28 (70%) of the 40 children with CF had mild to moderate obstructive sleep apnea (defined as an apnea-hypopnea index >2). Children with CF compared with controls also had reduced sleep efficiency (CF group vs controls mean [SE], 80% [41%] vs 88% [13.1%], P < .001), rapid eye movement sleep duration (11% [0.9%] vs 13% [1%], P < .05), and increased number of arousals per hour (11.0 [10] vs 8.2 [0.7], P < .001). CONCLUSIONS: This study showed an early occurrence of obstructive sleep apnea in children with CF in stable condition, associated with a mild level of sleep disruption. Early routine nocturnal respiratory monitoring is advised in children with CF.

Mild cystic fibrosis in patients with the rare P5L CFTR mutation.

Over 1800 Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutations have been identified so far, determining different degrees of CFTR dysfunction and a range of different cystic fibrosis phenotypes. The P5L CFTR mutation is a recently described N-terminus missense variant which may cause defect of protein folding and processing/trafficking, but the functional classification is still unclear. Given the rarity of the mutation, the associated clinical phenotype is still unknown. The aim of our study was to describe the clinical phenotypes in a group of 7 patients with the P5L mutation including 2 adults, 2 adolescents and 3 children. The P5L variant was associated with ΔF508 in 5 patients and with W1282X in two patients. All patients had positive or borderline sweat test values. All had pancreatic sufficiency, no hepatobiliary disease, no or mild respiratory symptoms and normal lung function. The two adult males were fertile. Most of the patients presented recurrent episodes of dehydration and hypochloronatremia. We conclude that, although it has been speculated that the N-terminus CFTR missense variants may severely affect the behaviour of the CFTR chloride channel, patients with the P5L CFTR mutation, in association with a severe class II mutation, may be asymptomatic or may be affected by mild disease.

A missed cystic fibrosis diagnosis in childhood.

We describe a suggestive case of cystic fibrosis (CF) with a CF transmembrane conductance regulator (CFTR) mutation compatible with survival in which the diagnosis was missed in childhood. A 46-year-old man presented to our pediatric hospital with infertility and chronic cough, which had been present since 7 years of age. History was notable for high transaminase levels, hepatic steatosis sinusitis, chronic bronchitis, and duodenal inflammation. A sweat test was performed in duplicate and revealed a near-abnormal chloride level for adult age (77 mEq/L; normal value < 72 mEq/L). Significant findings of chronic bronchitis and bronchiectasis were found on x-ray film. A culture of sputum was positive for Pseudomonas aeruginosa. Spirometry showed a severe airflow limitation (FEV, 40%, and FVC, 61% of the predicted). CFTR mutation analysis showed the presence of homozygous 3849+10kbct mutation. Among CFTR mutations, 3849+ 10kbC>T has been reported frequently in adult patients with normal sweat tests and may cause a late diagnosis of CF. We conclude that because the diagnosis of CF might be missed during childhood, the diagnosis of CF in adults should be considered by practitioners, in subjects with chronic respiratory, gastrointestinal, and hepatic complaints.