Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new entity, recently proposed by the American Academy of Pediatrics: BRUE, an acronym for Brief Resolved Unexplained Events. In this manuscript we will use the term BRUE only to refer to mild, idiopathic cases rather than simply replace the acronym ALTE per se. In our guidelines the acronym ALTE is used for severe cases that are unexplainable after the first and second level examinations. Although the term ALTE can be used to describe the common symptoms at the onset, whenever the aetiology is ascertained, the final diagnosis may be better specified as seizures, gastroesophageal reflux, infection, arrhythmia, etc. Lastly, we have addressed the emerging problem of the so-called Sudden Unexpected Postnatal Collapse (SUPC), that might be considered as a severe ALTE occurring in the first week of life.
respiratory dysfunction during sleep caused by vocal cord involvement with stridor and diaphragmatic paralysis has been described in patients with Charcot-Marie-Tooth hereditary neuropathy type 2C (CMT2C).
Aims and objective
evaluate the positive effect of early cordectomy on muscular respiratory effort indexes in a pediatric patient with respiratory stridor due to complete bilateral vocal cord paralysis caused by mutation in TRPV4 gene.
Methods
serial PSG evaluations performed before and immediately after cordectomy.
Results
Respiratory Mechanical Instability (RMI) parameters evaluation disclosed the need of increase of respiratory muscular effort to obtain the good respiratory function during sleep. Laryngoscopic surgery was performed and serial cardiorespiratory monitorings confirmed the reduction of RMI parameter along the time.
Conclusions
early cordectomy could be used in patients with bilateral vocal cord paralyses due to CMT2C to reduce the stridor and the nocturnal muscular efforts.
Abstract In this letter, the authors compare the incidence of SUDI and SIDS in the Tuscany Region to the incidence reported by Campi and Bonati in their paper “Can we still do something-and what?- for a seemingly missing syndrome?” that was recently published in this journal. The Tuscany data are directly gathered from the autopsies while the others from the death certificates that are often not reilable, thus causing an understimation of the phenomenon. The real picture of the extent of SIDS is crucial to evaluate the effectiveness of back to sleep campaigns.
Congenital central hypoventilation syndrome (CCHS) is a genetic disorder mainly characterized by failure of automatic control of breathing, causing alveolar hypoventilation. Little is known regarding cough in CCHS. Parental reports indicate that patients cough normally during airway infections; however, previous studies have demonstrated no cough response to fog inhalation.To evaluate the sensory and motor components of cough, respiratory sensations, and changes in ventilation evoked by fog inhalation in children with CCHS and in sex- and age-matched control subjects.Cough threshold was measured and cough intensity was indexed in terms of cough peak expiratory flow and integrated abdominal electromyographic activity. The pattern of breathing was recorded by inductive plethysmography. Respiratory sensations were also investigated.All control subjects and six of seven patients coughed in response to fog inhalation. The seventh coughed with citric acid aerosol inhalation. Cough threshold values were similar in control subjects (range, 0.40-2.22 ml/min) and patients (range, 0.40-3.26 ml/min). Mean values of cough peak expiratory flow and of integrated abdominal electromyographic activity-related variables during coughing were also similar and corresponded to 80% of those recorded during maximum voluntary cough. Cough appearance was preceded by respiratory sensations and increases (P < 0.01) in ventilation in the control subjects but not in the patients.Children with CCHS have normal cough threshold and motor responses to fog inhalation. However, the lack of respiratory sensations and the likely related ventilatory changes typically elicited by tussigenic fog concentrations suggest a neural sensory deficit that may increase the risk of respiratory disease in these patients.
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system and in particular of the respiratory control during sleep. No drug therapy is, to date, available; therefore, the survival of these patients depends on lifelong ventilatory support during sleep. Reactive oxygen species (ROS)-induced oxidative stress is a recognized risk factor involved in the pathogenesis of several chronic diseases. Therefore, monitoring systemic oxidative stress could provide important insights into CCHS outcomes. Because ROS-induced oxidative products are excreted as stable metabolites in urine, we performed an HPLC-MS/MS analysis for the quantitative determination of the three main representative oxidative biomarkers (i.e., diY, MDA, and 8-OHdG) in the urine of CCHS patients. Higher levels of urinary MDA were found in CCHS patients compared with age-matched control subjects. The noteworthy finding is the identification of urinary MDA as relevant biomarker of systemic oxidative status in CCHS patients. This study is a concise and smart communication about the impact that oxidative stress has in CCHS, and suggests the monitoring of urinary MDA levels as a useful tool for the management of these patients.
Summary Various definitions of arousals have been used in infants. An international group of experts has worked on a consensus for the scoring of arousals in healthy infants, aged between 1 and 6 months. This opinion paper summarizes the consensus statement on the scoring of arousal. The paper reviews recommended techniques for the recording of arousal in infants. Scoring includes the differentiation between subcortical activation, with no visible change n the electroencephalograph (EEG) recording, and cortical arousals associated with EEG changes. The arousals are further scored as spontaneous or induced, according to environmental conditions. Potential limitations to the method are discussed, with the hope that this document could contribute to promote further progresses in the scoring of infants arousals from sleep.
