Study aims were to describe the development and validation of a Pediatric Epilepsy Medication Self-Management Questionnaire (PEMSQ) for caregivers of children 2–14 years. It was expected that PEMSQ scales would have 1) internally consistent factors and 2) moderate associations with adherence and seizures. Participants included caregivers of 119 children with epilepsy (Mage=7.2yrs, 36% female, 72% Caucasian) who completed the PEMSQ, demographics questionnaire, and AED adherence was assessed (e.g., electronic monitors, self-report). Factor analysis was conducted and internal consistency and construct validity were assessed. The final PEMSQ is 27-items with four scales (Epilepsy and Treatment Knowledge and Expectations, Adherence to Medications and Clinic Appointments, Barriers to Medication Adherence, and Beliefs about Medication Efficacy) accounting for 88% variance. Cronbach’s alphas ranged from 0.68–0.85. Significant associations were found between PEMSQ scales, adherence, and seizures. The PEMSQ represents the first self-management measure validated for caregivers of children with epilepsy, with clinical and research utility.

The prevalence of hearing loss and abnormal middle ear status is high in the pediatric population with DS. Audiologic evaluations should follow the American Academy of Pediatrics practice guidelines to monitor this high-risk population, and amplification should be considered as an appropriate intervention option if repeated audiologic examinations reveal hearing loss.

Objectives. To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Methods. Medical charts, electroencephalograms, and brain magnetic resonance images were evaluated in 37 children treated for infantile spasms at a single institution from 2005 to 2015. Results. Mean age at diagnosis was 9.16 months, with an average 1.38-month lag from spasms onset to start of medication. Prevalence of heart defects and pulmonary hypertension were significantly higher in those with infantile spams compared with those without. Eighty-one percent receiving adrenocorticotropic hormone as initial treatment experienced remission within 2 weeks, 94.1% had remission at 3 months compared with 18.8% at 2 weeks and 35.3% at 3 months for other first-line treatments. Type of treatment was the only predictor of good outcome. Conclusions. Results stress the importance of early recognition and adrenocorticotropic hormone treatment for this seizure disorder in children with Down syndrome.

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 ± 3.52) lag from the onset of symptoms to diagnosis for children clinically identified in comparison with 1.69 years (SD ± 2.09) 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.

Objective: Children with Down syndrome (DS) have an increased risk of neonatal complications and comorbidities compared to the general population; however, the incidence, optimal screening intervals and outcomes in this population are uncertain. The purpose of this study is to phenotypically define this population of children with DS using a large multi-age and ethnic sample and current American Academy of Pediatrics (AAP) Guidelines testing practices.Method: This is a retrospective review of a large cohort of 1,108 children with DS (male=602; mean age at initial contact: 5.72 years, SD ± 5.51) who received care at the Sie Center for Down Syndrome (SCDS) at The Children's Hospital Colorado from 2011 and 2016. Clinical data were collected from a prospective patient clinic database. Clinical details were collected, which included demographics, prenatal and birth history and complications, comorbidities, procedures, treatment plans and outcomes.Results: Medical complications requiring admission to the neonatal intensive care unit were identified in 70.6% of children with DS. Frequent causes for these neonatal admissions included: Required oxygen (60.7%), feeding problem (48.2%), Respiratory Distress Syndrome (21.4%) and pulmonary hypertension (14.7%). Incidence of medical comorbidities in our population with DS included cardiac defects (64.3%), abnormal sleep study (71.1%), abnormal thyroid study (29.1%), pulmonary aspiration (12.2%), celiac disease (5.0%) and pulmonary arterial hypertension (28.3%). Conclusion:Clinical data provides results from one of the largest investigations at a single pediatric hospital for children and young adults with DS in the US. This study describes the comorbidities affecting individuals with DS more accurately by applying AAP guidelines in studying a larger population than previously defined. This result improves our understanding of the incidence and identification of medical conditions in children with DS and reinforces recommendations on medical care screening for individuals with DS.