Congenital central hypoventilation syndrome; Safety of early transition to non-invasive ventilation

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic dysregulation, characterized by alveolar hypoventilation especially during sleep. As a result, lifelong ventilatory assistance is necessary in these patients. Many infants and children initially require positive pressure ventilation via tracheostomy for support. Associated complications and psychosocial pressure may prompt early transition to non-invasive ventilation. We present the details of a patient with CCHS who successfully transitioned from tracheostomy to bilevel positive airway pressure ventilation at an early age of 3 years.

Decannulation in children affected by congenital central hypoventilation syndrome: A proposal of an algorithm from two European centers

“…9,23 Nevertheless, there are also reported cases of children successfully decannulated at early age. 22,24 On the basis of our experience, we consider useful to complete the decannulation program before adolescence, due to the multiple factors that could influence, at this age, the good outcome and adherence to treatment.…”

“…29 In this phase, the use of a speaking valve or a tracheostomy capping button allows the clinician additional time to monitor cough effectiveness, swallowing and voice quality, as well as the patient's ability to adequately breathe through the upper airways. 24,25 We adopt initially the speaking valve and, after verifying its tolerance and absence of respiratory fatigue and hypoxemia, we suggest tracheostomy capping with progressive increase of daily hours spent with plugged tracheostomy. Differently, Tibbals and Henning 9 proposed the downsizing of the tracheostomy tube to obtain the same effects.…”

“…Though polysomnography is considered an "optional" indication for adjusting ventilator settings and as part of the evaluation process before decannulation, 30 some authors described the use of this tool to assess ventilation adequacy with capped tracheostomy before proceeding to decannulation in CCHS patients. [23][24][25][26] In the present suggested protocol, our patients performed nocturnal polysomnography and transcutaneous capnography to verify respiratory stability under IMV, to establish initial NIV setting, to detect the presence of obstructive sleep apnea immediately after tracheostomy removal and then in the subsequent period.…”

An Assistive Device for Congenital Central Hypoventilation Syndrome Outpatients During Sleep

“…Though this methodology does not require surgery, it has many disadvantages such as possible mid-face hypoplasia and dental malocclusion due to the prolonged use of the ventilation masks. 13,19 Moreover, leakages can occur in the ventilation system, endangering the patient life. As an alternative ventilation system, it is also possible to exploit body chambers or Porta-lungs.…”

“…The most common method of providing mechanical ventilation, especially in infants and younger children, is intermittent positive pressure ventilation via tracheostomy. 13 This type of ventilation requires a surgical opening of the trachea and insertion of a tracheal tube that is then connected to a ventilator. This technique is quite reliable but often incompatible with a normal childhood, and it can cause recurrent secondary airway infections.…”