LIBRO + ANEXOS NEUMOLOGÍA PEDIÁTRICA

Libro Blanco de las ACES Pediátricas 2024 172 ❚ a. Know that children with congenital central hypoventilation syndrome may have findings of dysrhythmias or alterations in blood pressure b. Know that children with congenital central hypoventilation syndrome may demonstrate no signs of dyspnea or stress despite inadequate ventilation or pneumonia 3. Imaging a. Know that magnetic resonance imaging (MRI) is the investigation of choice to detect brainstem abnormalities 4. Other studies a. Recognize the indications for ventilatory response testing b. Understand the role of polysomnography in establishing a diagnosis of congenital central hypoventilation syndrome 5. Diagnostic criteria a. Know the diagnostic criteria (clinical and laboratory data) for establishing a diagnosis of an alveolar hypoventilation syndrome b. Know that increased intracranial pressure and/or brain stem compression can cause respiratory control abnormalities c. Know that mutations of the PHOX2B gene are diagnostic of congenital central hypoventilation syndrome 6. Complications a. Know that death due to hypoxemia during sleep is a complication of alveolar hypoventilation syndrome e. Prevention and therapeutic approach 1. Prevention 2. Therapeutic approach a. Know the indications for and the effectiveness of the various therapeutic approaches to treatment of congenital central hypoventilation syndrome b. Recognize the impact of long-term ventilatory support on the child and family c. Identify the resources and skills necessary for successful home management of a child with congenital central hypoventilation syndrome d. Know that pharmacologic therapy is ineffective in the management of congenital central hypoventilation syndrome e. Recognize the indications for and the risks and benefits of diaphragmatic or phrenic nerve pacing in patients with congenital central hypoventilation syndrome 3. Side effects of therapy a. Recognize the complications of long-term ventilation (positive and negative pressure) b. Recognize the complications of diaphragmatic pacing f. Prognosis 1. Natural history a. Know that the condition of children with congenital central hypoventilation syndrome most likely will not improve with age 2. Prognosis with therapy