Blood counts in children with Down syndrome.

BACKGROUND: Children with Down syndrome (DS) are more likely to have hematologic and immunologic abnormalities compared to their typically developing peers, but normal ranges have not been defined. The goal of this study was to create references for complete blood counts (CBCs) in patients with DS. METHODS: A retrospective investigation of 355 (male = 196, 55.2%; mean age = 6.49 years, SD = 5.07) healthy pediatric patients with DS who received a CBC between 2011 and 2017 as part of their medical care at a single, large, pediatric teaching hospital. Control data on 770 healthy patients without DS were included. Descriptive statistics were performed on demographic and clinical characteristics. Kruskal-Wallis H tests, nested analysis-of-variance tests, and t-tests were run to determine the significant associations. RESULTS: Age-related normative curves for healthy children with DS outlining 2.5th, 25th, 50th, 75th, and 97.5th percentiles are provided for total white blood count, hemoglobin concentration, hematocrit, mean corpuscular volume, and platelet, absolute neutrophil, absolute lymphocyte, eosinophil, monocyte, and basophil counts. Statistical differences were found between children with and without DS receiving care at the same hospital based on matched age/sex groups. CONCLUSIONS: This study demonstrates that patients with DS have different reference ranges for multiple blood counts compared to those without DS, creating a new resource for pediatricians to refer to when evaluating CBCs in this 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.

Reach Out and Read Implementation in a Pediatric Down Syndrome Clinic.

INTRODUCTION: To examine the first Reach Out and Read (ROR) program in a pediatric Down syndrome (DS) clinic in the United States and the literacy behaviors of young children with DS and their families. METHOD: This is a large cohort (n = 747) review of children with DS participating in ROR and a family literacy survey (n = 209). Data from the electronic medical records were included. RESULT: On average, children with DS began independently reading at 6.15 years (standard deviation = 1.42). Overall, 36.7% of children with visual/audio impairments required additional encouragement. Time spent reading was impacted by the mother's education level. Differences were found among ROR participants with DS for reported favorite activity. DISCUSSION: ROR is an important clinic-based literacy program for children with DS. Children with DS attain independent reading abilities similar to typically developing peers when provided appropriate resources. Additional support is needed to encourage reading enjoyment in this population.

Development and validation of the Pediatric Epilepsy Medication Self-Management Questionnaire.

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) factors with high internal consistency (e.g., Cronbach's alpha>0.70) and 2) moderate associations with adherence and seizures. Participants included caregivers of 119 children with epilepsy (M(age)=7.2 yrs, 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.

Behavioral Audiology Procedures in Children With Down Syndrome.

Purpose Normative data regarding behavioral audiologic testing procedures are based upon the general population and often do not apply to children with Down syndrome (DS). Testing children with DS can be challenging, and outcomes may be unreliable due to their different cognitive demands and delays. The aim of this study was to assess optimal audiologic testing procedures for specific age groups of children with DS. Method This study used a retrospective investigation of 273 children with DS (145 boys, 128 girls; average age at evaluation = 5.92 ± 4.74 years) who received an audiologic evaluation during 2013 as part of their medical care at a large pediatric hospital (satellite facilities included). Results Age ranges for the completion of audiometry procedures in children with DS are provided. Average age to reliably complete behavioral testing in children with DS was delayed by up to 30 months compared to typically developing children. The majority of children with DS achieved at least good-to-fair reliability for audiologic results starting at 16 months (85.7%) and two ear results at 6-10 years (76.1%). Though not statistically significant, the use of a two-tester assistant compared to a single tester appeared to be helpful in obtaining reliable results. Conclusion The results provide a guide to optimal audiologic test procedures for children with DS, as the standard audiologic guidelines for typically developing infants and children do not apply.

Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response.

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.

Understanding Hearing and Hearing Loss in Children With Down Syndrome.

PURPOSE: This study evaluated the prevalence of permanent and transient hearing loss, the use of hearing aids as a recommendation, and middle ear dysfunction in children with Down syndrome (DS) through a large multiage and ethnically diverse sample, using current audiologic testing practices. METHOD: Retrospective analysis of data collected on 308 children with DS (168 boys, 140 girls; average age = 5.99 ± 4.88 years) who received an audiological evaluation during 2013 as part of their medical care at a large pediatric hospital. RESULTS: Permanent hearing loss was identified in 24.9% of the children, among whom bilateral (75.4%) and conductive (33.3%) hearing losses occurred most often. Of children with DS, 22%-30% experienced a transient hearing loss, with a high incidence of middle ear pathologies from infancy until early adulthood. There were no statistical differences between ethnicity and permanent/transient hearing loss diagnosis. Twenty-three percent were current hearing aid users or had them recommended in a treatment plan. CONCLUSIONS: 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.