International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.

Association of childhood high body mass index and sleep disordered breathing with perioperative laryngospasm.

BACKGROUND: Childhood high body mass index (BMI) and sleep disordered breathing (SDB) are increasingly prevalent and both are associated with perioperative respiratory complications. Laryngospasm is one of the more serious respiratory complications with potentially devastating consequences. It is presently unclear whether high BMI and incident SDB in children significantly amplifies the risks of perioperative laryngospasm. This study examined the hypothesis that compared to controls; children with high BMI and SDB at the time of surgery have higher rates of perioperative laryngospasm. METHODS: Children (6-18 yr) who underwent elective, non-cardiac operations at a tertiary care center were the subjects of this cross-sectional study. Rates of perioperative laryngospasm were compared between normal controls and children who were overweight/obese and had clinical history of SDB at the time of surgery. Stepwise logistic regression analysis was performed to identify independent predictors of perioperative laryngospasm (dependent variable) using high BMI/SDB as the primary predictor variable. RESULTS: Among 642 children, those who were overweight/obese and had incident SDB (N = 197) were younger, and had higher indexes of central adiposity. Children with high BMI and SDB had 3.8 times higher unadjusted odds of developing intraoperative laryngospasm (OR = 3.8; 95% CI = 2.1-6.9, p < 0.001). After adjusting for several relevant covariates, the following factors were found to be independent predictors of perioperative laryngospasm: high BMI + SDB, male sex and increasing neck circumference. CONCLUSION: High BMI and incident SDB in children is associated with increased rates of perioperative laryngospasm. The mechanism(s) underlying this propensity to laryngospasm deserve further elucidation.