Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome.

Pulmonary disease, lower respiratory tract infection, and pneumonia are the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but whether pulmonary diagnoses in children with DS are common and occur independently of cardiac disease and pulmonary hypertension (PH) is unknown. Cardiopulmonary phenotypes were examined in a cohort of 1248 children with DS. Aptamer-based proteomic analysis of blood was performed in a subset (n = 120) of these children. By the age of 10 years, half of the patients in this cohort (n = 634, 50.8%) had co-occurring pulmonary diagnoses. That proteins and related pathways were distinct between children with pulmonary diagnoses and those with cardiac disease and/or PH may indicate that pulmonary diagnoses appear to occur independently of cardiac disease and PH. Heparin sulfate-glycosaminoglycandegradation, nicotinate metabolism, and elastic fiber formation were ranked highest in the group with pulmonary diagnoses.

Child feeding practices in children with Down syndrome in relationship to ethnicity and BMI.

Children with Down syndrome (DS) exhibit higher overweight and obesity rates than their typically developing peers, although it is unknown whether parent feeding practices for children with DS are associated with child weight status or parental and demographic factors, especially in the Hispanic and Latino populations. A prospective study of 68 children with DS from 2 to 7 years of age, who received care at a single, large, pediatric academic hospital was conducted to evaluate parent child feeding practices. Parents completed the Child Feeding Questionnaire+ (CFQ+) assessing seven primary factors of feeding practices and comparisons to children without DS were conducted. Data for body mass index (BMI) and BMI-for-sex/age z score (BMIz scores) were collected in clinic at the time of CFQ+ completion for both parent and child. Parents of children with DS endorsed higher perceived responsibility but lower concern about child weight and restriction compared to previously reported feeding practices in typically developing children. Hispanic/Latino parents of children with DS reported higher perceived responsibility and monitoring than non-Hispanic/Latino parents of children with DS. Higher BMIz scores in children with DS correlated with greater perceived child weight (p = 0.001) and concern about child weight (p = 0.008). Differences in BMIz scores were observed when comparing sex/ethnicity groups as determined by one-way ANOVA (F(3,64) = 4.170, p = 0.009); with Hispanic/Latino boys with DS more likely to have obesity. Our results suggest a need for specific DS Guidelines to educate providers and parents of children with DS on recommended feeding practices prior to parental concern about their child's weight, especially in the Hispanic/Latino population.

Routine Screening for Celiac Disease in Children With Down Syndrome Improves Case Finding.

OBJECTIVES: Children with Down syndrome have an estimated 6-fold increased risk of developing celiac disease in the United States compared with the general population, yet the determination to screen for celiac disease in this population is not agreed upon. The objectives of this study are to assess the prevalence of celiac disease in children with Down syndrome in our center and compare features from this population identified clinically and through screening. METHODS: This is a retrospective chart review of 1317 children with Down syndrome who received treatment at a single institution from 2011 to 2017. All participants (n = 90; 53.3% boys) met inclusion criteria of celiac disease diagnosis between 1 month and 22 years of age and Down syndrome. Clinical details were collected, which included the results from celiac disease screening tests, reason for diagnosis and/or testing, symptoms, nutrition notes, demographics, comorbidities, and outcomes. RESULTS: Prevalence of celiac disease in our population of children with Down syndrome ages 3 years or older was 9.8%. Mean age at diagnosis was 9.24 years (SD = 4.98) with an average of 2.85 years (SD ±â€Š3.52) lag from the onset of symptoms to diagnosis for children clinically identified in comparison with 1.69 years (SD ±â€Š2.09) for children identified through routine screening. Eighty-two percentage of clinic patients received a diagnosis of celiac disease because of routine screening compared with clinical testing based on identified symptoms alone. CONCLUSION: Our results suggest the need for routine celiac disease screening in children with Down syndrome to improve case-finding and avoid diagnostic delay.