Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.

Background: Genetic screening for youth with obesity in the absence of syndromic findings has not been part of obesity management. For children with early onset obesity, genetic screening is recommended for those having clinical features of genetic obesity syndromes (including hyperphagia).

Objectives: The overarching goal of this work is to report the findings and experiences from one pediatric weight management program that implemented targeted sequencing analysis for genes known to cause rare genetic disorders of obesity.

Airway Obstruction during Sleep due to Diaphragm Pacing Precludes Decannulation in Young Children with CCHS.

Children with congenital central hypoventilation syndrome (CCHS) have a PHOX2B mutation-induced control of breathing deficit necessitating artificial ventilation as life support. A subset of CCHS families seek phrenic nerve-diaphragm pacing (DP) during sleep with the goal of tracheal decannulation. Published data regarding DP during sleep as life support in the decannulated child with CCHS and related airway dynamics in young children are limited.