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Objectives: To characterize immunologic function and clinical characteristics in patients with chromosome 22q11.2 deletion syndrome and determine whether there was significant change over time. Methods: This study characterized the laboratory and clinical features of the immunodeficiency in a cohort of 195 patients with chromosome 22q11.2 deletion syndrome and used cross-sectional and analysis of variance to compare the findings in different age groups with control patients. Changes over time were also characterized by a model effect method in a subset of patients who were studied serially. Results: Diminished T cell counts in the peripheral blood are common in patients with chromosome 22q11.2 deletion syndrome. The pattern of changes seen with aging in normal control patients was also seen in patients with chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, though they were seldom life threatening. Conclusions: Slow declines in T cell populations are seen in chromosome 22q11.2 deletion syndrome. Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this population but had little relationship to specific immunologic laboratory features. (J Pediatr 2001;139:715–23)

Objective: To determine prospectively the relationship among growth, nutritional status, and pulmonary function over a 4-year period in a large cohort of children with cystic fibrosis (CF). Study design: CF Foundation National CF Patient Registry data collected from 1991 to 1995 for 968 children (507 male) aged 5 to 8 years with pancreatic insufficiency and forced expiratory volume in 1 second within 60% to 140% of predicted values (FEV1%) were analyzed longitudinally. Variables hypothesized to affect FEV1% included age, sex, z scores for height, weight, percent of height-appropriate body weight, and annual number of days hospitalized. Results: The significant decline in FEV1% was curvilinear and dependent on baseline FEV1%; children with initial FEV1% ≥90 declined 2.6 U/y more than those with initial FEV1%

Objective—To test the hypothesis that overweight siblings of children with type 2 diabetes mellitus (T2DM) have a higher prevalence of abnormal glucose tolerance (AGT) compared with other overweight children. Study design—This was a cross-sectional study of overweight (body mass index [BMI] ≥ 95 th percentile) subjects, age 8 to 17 years, with at least 1 sibling age ≥ 12 years. The primary outcome was AGT, as assessed by the oral glucose tolerance test (2-hour glucose ≥ 140 mg/dL). The secondary outcome was insulin resistance by homeostasis model assessment (HOMA). Results—The sibling (n = 20) and control (n = 42) groups were similar in terms of age, sex, racial distribution (largely African American), pubertal status, and BMI. The prevalence of AGT in the sibling group was 40.0% (n = 8), compared with 14.3% (n = 6) in controls (P = .048, Fisher exact test; unadjusted odds ratio = 4.0; 95% confidence interval = 1.2 to 13.5). Univariate analysis did not identify confounders for either outcome. There were no significant differences in HOMA or hemoglobin A1c between the 2 groups. Conclusions—Overweight siblings of children with T2DM had 4 times greater odds of having AGT compared with other overweight children. This group may represent a particularly high-risk population to target for screening and pediatric T2DM prevention. Type 2 diabetes mellitus (T2DM) is caused by a combination of both genetic and environmental factors. Known risk factors include obesity (particularly increased visceral adiposity); decreased exercise; African American, Native American, Asian, or Hispanic race/ethnicity; family history; and insulin resistance. 1 Obesity decreases insulin sensitivity, as does puberty, 2 when all adolescents experience a period of relative insulin resistance thought to be secondary to increased growth hormone secretion. 3 Thus, in obese adolescents already at risk for developing T2DM, the physiological increase in insulin resistance during puberty may be sufficient to unmask disease. Family history also is known to be important. Of children with T2DM, 74% to 100% have a first- or second-degree relative with T2DM. 1 Adult studies have shown increased insulin resistance and decreased insulin secretory capacity in the nondiabetic first-degree relatives of

To evaluate the effects of fasting on serum leptin levels in lean children.Seventeen children, age 7.7 +/- 4.3 years with mean body mass index (BMI) of 16.7 +/- 2.7 kg/m(2), underwent standard diagnostic fasts for suspected hypoglycemia. Blood was sampled at 6-hour intervals for glucose, insulin, C-peptide, leptin, free and total insulin-like growth factor-1, insulin-like growth factor-binding protein-1, growth hormone, cortisol, ketones, and free fatty acids.Subjects fasted 15 to 40 hours, and initial leptin levels were related to BMI and age. Leptin declined by 0.5 ng/mL per each fasting hour (P = .008), using a longitudinal mixed effects model. Leptin dropped significantly from an initial mean +/- SEM during the first 6 hours of 15.9 +/- 5.5 ng/mL to 3.5 +/- 0.9 ng/mL at the end of fasting. Mixed longitudinal effects models demonstrated that leptin was significantly related to insulin over time (P.0001) as well as C-peptide (P.0001). Significant relations were also seen with total insulin-like growth factor-1 over time, beta-hydroxybutyrate and insulin, and insulin-like growth factor-binding protein-1 and insulin.After 6 hours, leptin levels steadily decline during prolonged fasting in lean children. The decline probably is related to the suppression of insulin secretion. Although baseline leptin levels were related to BMI and age, in the final fasting sample, leptin levels showed minimal variation in this pediatric cohort encompassing a wide age range.

Objective: Low bone mineral density (BMD) is a recognized complication of Crohn’s disease (CD). The aim of this study was to identify the risk factors for low BMD in pediatric patients with CD. Study Design: One hundred nineteen subjects with CD ranging in age from 5 to 25 years were enrolled. BMD of the lumbar spine was measured by dual-energy x-ray absorptiometry. Growth parameters were assessed by examination. Disease-specific variables and use of selected medications were determined by chart review. Results: Powerful risk factors for low BMD z-score included hypoalbuminemia, exposure to nasogastric tube feeds, total parenteral nutrition, 6-mercaptopurine, and corticosteroids. Corticosteroid dosing at a level >7.5 mg/d, 5000 mg lifetime cumulative dose, or >12 months of lifetime exposure were significant risk factors for low BMD z-score. Weaker but significant associations with low BMD z-scores included measures of disease severity such as pediatric Crohn’s disease activity index, hospital admissions, and length of hospital stay. Site and duration of disease were not predictive. Conclusions: The presence of several clinically available factors was predictive of poor bone mineral status in this sample of subjects with CD. Hypoalbuminemia, corticosteroid exposure, nasogastric tube feeds, total parenteral nutrition, and 6-mercaptopurine were the most powerful risk factors for low bone mineral status. (J Pediatr 1999;135:593-600)

Objective: To evaluate the growth of hypercholesterolemic children completing an innovative, physician-initiated, home-based nutrition education program or standard nutrition counseling that aims to lower dietary fat intake. Study design: From suburban pediatric practices, 261 3.9- to 9.9-year-old children with elevated cholesterol levels and 81 children with nonelevated cholesterol levels were identified. The children with hypercholesterolemia were randomly assigned to the home-based education program, standard nutrition counseling, or an at-risk control group. Height, weight, skinfold measures, and dietary intake were evaluated at baseline, 3, 6, and 12 months; changes in anthropometric measures among treatment groups were compared over time. Results: The intervention groups demonstrated significant decreases in fat and saturated fat intake after the interventions; however, weight z-score, height z-score, weight-for-height-median, and sum of skinfolds did not vary among the treatment groups over the year. At baseline, height z-score, weight z-score, and weight-for-height-median were positively associated with caloric intake, whereas weight z-score, weight-for-height-median, and sum of skinfolds were positively associated with fat intake. When the groups were combined and the children were grouped by average fat intake quintiles, no association between fat intake and changes in weight z-score, height z-score, or weight-for-height-median was observed. Differences over time in sum of skinfolds among fat intake quintile groups (suggesting a negative association between fat intake and body fat) that approached statistical significance ( p = 0.06) were observed. Conclusions: These results support the safety, with respect to growth, of physician-initiated dietary intervention and lower fat diets for children with hypercholesterolemia. In addition, low dietary fat intake was associated with lower body fat. (J Pediatr 1998;133:28-34.)

Objective: To describe the age-related changes in cardiovascular disease risk factors in young, hypercholesterolemic (HC) children. Methods: Hypercholesterolemic ( n = 227) and nonhypercholesterolemic (NHC) ( n = 80) children between the ages of 4 and 10 years were identified. Height, weight, skin-fold and blood pressure measurements, and total cholesterol levels were measured. The HC group also had insulin levels evaluated. The groups were compared by analysis of variance. Simple Spearman correlations evaluated the associations between factors within each group. Results: The HC and NHC groups had similar mean ages, heights, and weights, both contained 51% girls, and all were white subjects. Percent weight-for-height median, and biceps, triceps, suprailiac and subscapular skin-fold measurements were all larger for the HC group. A significant age interaction demonstrated that the HC group's larger suprailiac and sum of skin-fold measures were expressed in the 8.0- to 9.9-year-old children, but not the 4.0- to 5.9-year-olds. For both groups, systolic blood pressure was associated with the measures of adiposity. For the HC group, insulin levels were also associated with adiposity. Conclusions: These results suggest that: (1) children with HC have greater body fat, (2) the expression of the hypercholesterolemia precedes the expression of increased body fat, (3) body fat increases with age, and (4) altered insulin and blood pressure levels are expressed in association with the increased body fat in children with HC. Confirmation with longitudinal data is necessary. (J Pediatr 1998;132:414-20)