Holly C. Gooding

Living with achondroplasia in an average‐sized world: An assessment of quality of life

Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most common form of inherited skeletal dysplasia. Although there are more than 10,000 individuals with achondroplasia living in the United States, there has been little study of their quality of life (QOL). For this study, surveys were collected from 189 individuals affected with achondroplasia (ACH) and 136 unaffected first‐degree relatives (FDRs) of affected individuals. Individuals affected with achondroplasia had lower annual income, less education, and were less likely to be married than FDRs. They also differed significantly in their perceptions of achondroplasia, with FDRs believing that achondroplasia is a more serious condition. Total QOL indices and indices in each of four QOL subdomains were significantly lower in affected individuals than in relatives. When controlling for demographic characteristics and affected status, having lower self‐esteem scores and perceiving achondroplasia as more serious were the independent factors most highly associated with lower QOL. A qualitative analysis of open responses to questions about the advantages and disadvantages of achondroplasia revealed that individuals were as likely to cite disadvantages relating to social barriers as they were to cite those relating to health and functioning. We interpret the low QOL scores to reflect the social challenges that individuals with achondroplasia regularly experience in the average‐sized world. Genetics professionals should consider sources of lower QOL for affected individuals in their counseling sessions to acknowledge the relative importance of non‐medical contributions. Published 2003 Wiley‐Liss, Inc.

Food Insecurity and Increased BMI in Young Adult Women

Food insecurity has been associated with weight status in children and adults although results have been mixed. We aimed to identify whether food insecurity was associated with BMI in young adults and whether this association differed by gender and was modified by food stamp use and the presence of children in the home. Cross‐sectional data from wave 4 (2007–2008) of the National Longitudinal Study of Adolescent Health were analyzed. Multiple linear regression was used to investigate the association between food insecurity and BMI in gender stratified models of young adult women (n = 7,116) and men (n = 6,604) controlling for age, race/ethnicity, income, education, physical activity, smoking, alcohol use, the presence of children in the home, and food stamp use in young adulthood and/or adolescence. Food insecurity was more common in young adult women (14%) than young adult men (9%). After controlling for a variety of individual variables, food insecure women had a BMI that was on average 0.9 kg/m2 units higher than women who were food secure. This difference in BMI persisted after controlling for recent or past food stamp use and was not different among women with or without children in the household. No relationship was found between food insecurity and BMI in young adult men. Providers should inquire about food insecurity, especially when treating obesity, and policy initiatives should address the role of access to healthy food in those facing food insecurity.

Long-Term Risk of Atherosclerotic Cardiovascular Disease in US Adults With the Familial Hypercholesterolemia Phenotype.

Background: Heterozygous familial hypercholesterolemia (FH) affects up to 1 in 200 individuals in the United States, but atherosclerotic cardiovascular disease (ASCVD) outcomes of FH in the general US population have not been described. We therefore sought to evaluate long-term coronary heart disease (CHD) and total ASCVD risks in US adults with an FH phenotype. Methods: Using individual pooled data from 6 large US epidemiological cohorts, we stratified participants by low-density lipoprotein cholesterol level at index ages from 20 to 79 years. For the primary analysis, low-density lipoprotein cholesterol levels ≥190 and <130 mg/dL defined the FH phenotype and referent, respectively. Sensitivity analyses evaluated the effects of varying the FH phenotype definition. We used Cox regression models to assess covariate-adjusted associations of the FH phenotype with 30-year hazards for CHD (CHD death or nonfatal myocardial infarction) and total ASCVD (CHD or stroke). Results: We included 68 565 baseline person-examinations; 3850 (5.6%) had the FH phenotype by the primary definition. Follow-up across index ages ranged from 78 985 to 308 378 person-years. After covariate adjustment, the FH phenotype was associated with substantially elevated 30-year CHD risk, with hazard ratios up to 5.0 (95% confidence interval, 1.1–21.7). Across index ages, CHD risk was accelerated in those with the FH phenotype by 10 to 20 years in men and 20 to 30 years in women. Similar patterns of results were found for total ASCVD risk, with hazard ratios up to 4.1 (95% confidence interval, 1.2–13.4). Alternative FH phenotype definitions incorporating family history, more stringent age-based low-density lipoprotein cholesterol thresholds, or alternative lipid fractions decreased the FH phenotype prevalence to as low as 0.2% to 0.4% without materially affecting CHD risk estimates (hazard ratios up to 8.0; 95% confidence interval, 1.0–61.6). Conclusions: In the general US population, the long-term ASCVD burden related to phenotypic FH, defined by low-density lipoprotein cholesterol ≥190 mg/dL, is likely substantial. Our finding of CHD risk acceleration may aid efforts in risk communication.

Helpful or harmful? Prospective association between weight misperception and weight gain among overweight and obese adolescents and young adults

Background/Objective:Weight misperception is common among adolescents with obesity, but it is not known whether weight perception is related to future weight gain. The objective of the study was to examine the prospective association between accurate weight perception versus weight misperception and weight change among youth who are overweight or obese.Subjects/Methods:Using a subsample of The National Longitudinal Study of Adolescent to Adult Health Wave II cohort, we used linear regression modeling (adjusted for age, baseline body mass index (BMI), parental education, household percent federal poverty level, depression, race and ethnicity) to examine the prospective association between weight misperception (that is, perceiving oneself to be under or normal weight) among 2738 overweight and obese youth and subsequent BMI change from Wave II (1996) to Wave IV (2008–2009). Mean age at baseline (Wave II) was 15.9 (0.1).Results:Fifty-seven percent of males and 80% of females accurately perceived themselves as overweight. In fully adjusted models, weight misperception was associated with less BMI gain among youth who were overweight and obese. Specifically, youth who perceived themselves to be at a healthy weight had lower BMI gains (males: β= −1.43, 95% confidence interval (CI)=(−2.26, −0.60), P=0.001; females: β= −1.35, 95% CI=(−2.59, −0.11), P=0.035) from Wave II to IV relative to those who accurately perceived themselves as overweight or obese.Conclusions:Contrary to commonly held assumptions, weight misperception among a non-clinical sample of youth who were overweight or obese predicted lower future weight gain. Efficacy of efforts to correct weight misperception should be rigorously examined to assess for both intended and unintended consequences.

Recommendations for electronic health record use for delivery of adolescent health care

Adolescents stand to benefit greatly from improved electronic access to reliable health information and health care. Use of electronic health records (EHRs) can potentially improve health care accessibility, effectiveness, and safety but can create challenges for the ongoing protection of patient confidentiality and privacy. Protection of adolescent confidentiality as dictated by applicable laws is a responsibility shared by EHR vendors, hospital and clinic administrators, clinicians, patients, and families. Based on a systematic review of the literature and consultation with thought leaders, the Society for Adolescent Health and Medicine adopts the following positions:

Application of Pediatric and Adult Guidelines for Treatment of Lipid Levels Among US Adolescents Transitioning to Young Adulthood

IMPORTANCE Health care practitioners who care for adolescents transitioning to adulthood often face incongruent recommendations from pediatric and adult guidelines for treatment of lipid levels. OBJECTIVE To compare the proportion of young people aged 17 to 21 years who meet criteria for pharmacologic treatment of elevated low-density lipoprotein cholesterol (LDL-C) levels under pediatric vs adult guidelines. DESIGN, SETTING, AND PARTICIPANTS We performed a cross-sectional analysis of the National Health and Nutrition Examination Survey (NHANES) population. Surveys were administered from January 1, 1999, through December 31, 2012, and the analysis was performed from June through December 2014. Participants included 6338 individuals aged 17 to 21 years in the United States. MAIN OUTCOMES AND MEASURES To estimate the number and proportion of individuals aged 17 to 21 years in the NHANES population who were eligible for statin therapy, we applied treatment algorithms from the 2011 Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents of the National Heart, Lung, and Blood Institute and the 2013 Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults from the American College of Cardiology and American Heart Association. After imputing missing data and applying NHANES sampling weights, we extrapolated the results to 20.4 million noninstitutionalized young people aged 17 to 21 years living in the United States. RESULTS Of the 6338 young people aged 17 to 21 years in the NHANES population, 2.5% (95% CI, 1.8%-3.2%) would qualify for statin treatment under the pediatric guidelines compared with 0.4% (95% CI, 0.1%-0.8%) under the adult guidelines. Participants who met pediatric criteria had lower mean (SD) LDL-C levels (167.3 [3.8] vs 210.0 [7.1] mg/dL) but higher proportions of other cardiovascular risk factors, including hypertension (10.8% vs 8.4%), smoking (55.0% vs 23.9%), and obesity (67.7% vs 18.2%) compared with those who met the adult guidelines. Extrapolating to the US population of individuals aged 17 to 21 years represented by the NHANES sample, 483 500 (95% CI, 482 100-484 800) young people would be eligible for treatment of LDL-C levels if the pediatric guidelines were applied compared with only 78 200 (95% CI, 77 600-78 700) if the adult guidelines were applied. CONCLUSIONS AND RELEVANCE Application of pediatric vs adult guidelines for lipid levels, which consider additional cardiovascular risk factors beyond age and LDL-C concentration, might result in statin treatment for more than 400 000 additional adolescents and young adults.

Sexual Orientation Disparities in BMI among US Adolescents and Young Adults in Three Race/Ethnicity Groups

Obesity is a key public health issue for US youth. Previous research with primarily white samples of youth has indicated that sexual minority females have higher body mass index (BMI) and sexual minority males have lower BMI than their same-gender heterosexual counterparts, with sexual orientation differences in males increasing across adolescence. This research explored whether gender and sexual orientation differences in BMI exist in nonwhite racial/ethnic groups. Using data from Waves I–IV (1995–2009) of the US National Longitudinal Study of Adolescent Health (N = 13,306, ages 11–34 years), we examined associations between sexual orientation and BMI (kg/m2) over time, using longitudinal linear regression models, stratified by gender and race/ethnicity. Data were analyzed in 2013. Among males, heterosexual individuals showed greater one-year BMI gains than gay males across all race/ethnicity groups. Among females, white and Latina bisexual individuals had higher BMI than same-race/ethnicity heterosexual individuals regardless of age; there were no sexual orientation differences in black/African Americans. Sexual orientation disparities in BMI are a public health concern across race/ethnicity groups. Interventions addressing unhealthy weight gain in youth must be relevant for all sexual orientations and race/ethnicities.

Weight misperception among young adults with overweight/obesity associated with disordered eating behaviors.

OBJECTIVE The purpose of this study was to examine the cross-sectional association between weight misperception among young adults with overweight/obesity and disordered eating behaviors. METHOD In a subsample of young adults with overweight or obesity participating in Wave III (2001-2002) of The National Longitudinal Study of Adolescent to Adult Health (n = 5,184), we examined the cross-sectional association between weight under-perception (i.e., perceiving oneself to be at a healthy body weight or underweight) and disordered eating (fasting/meal skipping for weight control, purging/pills for weight control, overeating/loss of control eating, and use of performance-enhancing products/substances). RESULTS About 20% of young adult females under-perceived their weight compared to 48% of males. Individuals who misperceived their weight as healthy were significantly less likely to report fasting/meal skipping (Females: OR: 0.25, 95% CI: 0.14-0.43; Males: OR: 0.31, 95% CI: 0.20-0.48) and vomiting or taking diet pills/laxatives/diuretics (Females: OR: 0.10, 95% CI: 0.04-0.25; Males: OR: 0.10, 95% CI: 0.04-0.25) for weight control. Among females, those who misperceived their weight status as healthy were also less likely to report overeating or loss of control eating (OR: 0.41, 95% CI: 0.24-0.71). Greater use of performance-enhancing products/substances was seen among males who under-perceived their weight as healthy (OR: 2.06, 95% CI: 1.57-2.72) and among both females (OR: 2.29, 95% CI: 1.40-20.0) and males (OR: 2.27, 95% CI: 1.13-4.55) who perceived themselves to be underweight. DISCUSSION Weight under-perception among young adults with overweight/obesity may convey some benefit related to disordered eating behaviors, but could be a risk factor for the use of performance-enhancing products/substances.

Cardiovascular risk assessment and cholesterol management in adolescents: getting to the heart of the matter.

Purpose of review Adolescence is a common time for the identification of cardiovascular disease risk factors, including elevated cholesterol. Guidelines for the detection and treatment of hypercholesterolemia differ for children and adults. This review highlights these differences and discusses special considerations for cholesterol management in the adolescent population. Recent findings Several longitudinal studies have confirmed that the number of cardiovascular risk factors present in adolescence, including elevated cholesterol, lead to atherosclerosis in adults. There is increased awareness that other chronic medical conditions, including diabetes, congenital heart disease, inflammatory diseases, and childhood cancer, can accelerate this process. There is a move to screen and treat more young patients with elevated cholesterol to prevent future cardiovascular disease. New markers of atherosclerosis are being used to quantify cardiovascular disease risk in adolescents in research populations. The safety and efficacy of several interventions, including drug therapy, is increasingly established. Summary Comprehensive cardiovascular risk assessment is important for adolescent health and includes assessment of family history and tobacco use along with measurement of body mass index and blood pressure. Additionally, cholesterol screening is recommended for overweight adolescents or those with an unknown family history and for all patients by the age of 20. Providers caring for adolescents should be familiar with both the pediatric and adult cholesterol screening and treatment guidelines as well as how common adolescent conditions affect cholesterol levels.

Exposure to violence in childhood is associated with higher body mass index in adolescence

To determine whether different types of childhood adversity are associated with body mass index (BMI) in adolescence, we studied 147 adolescents aged 13-17 years, 41% of whom reported exposure to at least one adversity (maltreatment, abuse, peer victimization, or witness to community or domestic violence). We examined associations between adversity type and age- and sex-specific BMI z-scores using linear regression and overweight and obese status using logistic regression. We adjusted for potential socio-demographic, behavioral, and psychological confounders and tested for effect modification by gender. Adolescents with a history of sexual abuse, emotional abuse, or peer victimization did not have significantly different BMI z-scores than those without exposure (p>0.05 for all comparisons). BMI z-scores were higher in adolescents who had experienced physical abuse (β=0.50, 95% CI 0.12-0.91) or witnessed domestic violence (β=0.85, 95% CI 0.30-1.40). Participants who witnessed domestic violence had almost 6 times the odds of being overweight or obese (95% CI: 1.09-30.7), even after adjustment for potential confounders. No gender-by-adversity interactions were found. Exposure to violence in childhood is associated with higher adolescent BMI. This finding highlights the importance of screening for violence in pediatric practice and providing obesity prevention counseling for youth.