Emily Davidson

Efficacy of Probiotic Use in Acute Diarrhea in Children: A Meta-Analysis

Our objective was to determine the efficacy of probiotic use in reducing the duration of increased stool output in children with acute diarrheal illness. Eligible studies were limited to trials of probiotic therapy in otherwise healthy children <5 years old with acute-onset diarrhea. The main outcome variable was difference in diarrhea duration between treatment and control groups. Our meta-analysis of 18 eligible studies suggests that coadministration of probiotics with standard rehydration therapy reduces the duration of acute diarrhea by ∼1 day [random-effects pooled estimate = −0.8 days (−1.1, −0.6), P < 0.001]. Differences in treatment effect between studies was assessed by calculating the Q statistic (Q = 204.1, P < 0.001). In subsequent analyses limited to studies of hospitalized children, to double-blinded trials, and to studies evaluating lactobacilli, the pooled estimates were similar (−0.6 to −1.2 days, P < 0.001). In conclusion, bacterial probiotic therapy shortens the duration of acute diarrheal illness in children by approximately one day.

The Doctor's Dilemma: Challenges for the Primary Care Physician Caring for the Child With Special Health Care Needs

OBJECTIVE To identify barriers to providing quality primary care to children with special health care needs (CSHCN). METHODOLOGY Descriptive cross-sectional needs assessment of primary care physicians caring for CSHCN. The population consists of 30 physicians from 2 health centers and 4 private offices participating in an intervention study designed to enhance primary care for CSHCN and 20 physicians from comparable sites (2 health centers, 5 private offices). An 86-item questionnaire was administered to participants. RESULTS Among these physicians who care for large numbers of CSHCN, over 70% were satisfied with specialist care, emergency room, and hospital care. By contrast, fewer than 50% reported satisfaction with mental health services, information available for families, access to case managers, and resources for transition-to-adult services. Seventy-one percent reported that compensation systems affected care, and more than half the physicians reported needing more time or staff to provide optimal care for CSHCN. CONCLUSIONS Experienced physicians providing primary care for large numbers of CSHCN report that their care is adversely affected by compensation systems. There is extensive dissatisfaction with the availability of mental health services, access to community resources, transition services, and availability of written information for families.

Parental Perceptions of Sleep Disturbances and Sleep-Disordered Breathing in Children With Down Syndrome

Objectives: Children with Down syndrome (DS) have increased difficulty initiating and maintaining sleep (DIMS), excessive daytime sleepiness (EDS), and obstructive sleep apnea (OSA). As part of a quality improvement initiative, parents of children enrolled in the Children’s Hospital Boston Down Syndrome Program were surveyed about their child’s sleep and breathing patterns while asleep. Methods: An anonymous Internet-based questionnaire was used in the study. Results: The completion rate was 46.5% (255/548). DIMS and EDS were frequently/almost always present in more than half the children. Among parents unconcerned about their child’s breathing, 11.8% witnessed apnea and 4.2% gasping/choking more than once monthly. Parents of children status post adenotonsillectomy (AT) reported witnessed apnea (47.5%), gasping/choking (28.9%) more than once monthly. Discussion: There is room for improved screening of sleep disturbances, OSA in children with DS. The high frequency of persistence of OSA following AT should prompt for continued screening following AT.

Contributions of a specialty clinic for children and adolescents with Down syndrome

We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with Down syndrome. For this quality improvement study, we performed a retrospective chart review of 105 new patients with Down syndrome, ages 3 and older, seen during the inaugural year of our specialty clinic. We asked how many of our patients were already up‐to‐date on the healthcare screenings recommended for people with Down syndrome. We further analyzed what tests we ordered, which referrals we suggested, and, ultimately, what new diagnoses of co‐occurring medical conditions were made. Only 9.8% of our patients were current on all of the recommended Down syndrome healthcare screenings. Parents came to clinic with a variety of concerns, and after laboratory tests, radiologic studies, and subspecialty referrals, we made many new diagnoses of gastrointestinal conditions (e.g., constipation and celiac disease), seasonal allergies, dermatologic conditions (e.g., xerosis), behavioral diagnoses (e.g., autism spectrum disorder and disruptive behavior not otherwise specified), and clarifications of neurologic conditions. A Down syndrome specialty clinic can identify and address many healthcare needs of children and adolescents with Down syndrome beyond that which is provided in primary care settings.

Developmental Regression, Depression, and Psychosocial Stress in an Adolescent with Down Syndrome.

CASE Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self-contained classroom comprising unfamiliar peers with behavior challenges.Urgent referrals for psychological and psychiatric evaluations were initiated. Neuropsychological testing did not suggest true regression in cognitive, language, and academic skills, although decreases in motivation and performance were noted with a reaction to stress and multiple environmental changes as a potential causative factor. Psychiatry consultation supported this finding in that psychosocial stress temporally correlated with Kristens regression in skills.Working collaboratively, the team determined that Kristens presentation was consistent with a reactive form of depression (DSM-IV-TR: depressive disorder, not otherwise specified). Kristens presentation was exacerbated by salient environmental stress and sleep apnea, rather than a cognitive regression associated with a medical cause. Treatment consisted of an antidepressant medication, continuous positive airway pressure for OSA, and increased psychosocial supports. Her school initiated a change in classroom placement. With this multimodal approach to evaluation and intervention, Kristen steadily improved and she returned to her baseline function.

Supporting a happy, healthy adolescence for young people with Down syndrome and other intellectual disabilities: recommendations for clinicians.

Purpose of review To review clinical updates and current healthcare issues for adolescents with Down syndrome and intellectual disabilities, including behavioral, social, and emotional issues, health supervision recommendations, and recommendations for supporting the transition process. Recent findings Several recent findings merit particular attention: low activity levels and implications for overweight and poor bone density; high prevalence of obstructive sleep apnea and its implications; prevalence of mental health and behavioral concerns; and need for appropriate transition services. Summary In guiding adolescents with Down syndrome towards healthy productive adult lives, clinicians can make use of healthcare guidelines and should also take a broader, more interdisciplinary approach to ensure that social, educational, and vocational plans are in place to support physical and mental health and development during transition into adulthood. Many of these issues have broader applicability to any adolescent with an intellectual disability.

National Down Syndrome Patient Database: Insights From the Development of a Multi-Center Registry Study

The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced‐based health care guidelines for individuals with Down syndrome (DS). Since then, 5 DS specialty clinics have collected prospective, longitudinal data on medical conditions that co‐occur with DS. Data were entered by clinical staff or trained designees into the National Down Syndrome Patient Database, which we created using REDCap software. In our pilot year, we enrolled 663 participants across the U.S., ages 36 days to 70 years, from multiple racial and ethnic backgrounds. Here we report: (i) the demographic distribution of participants enrolled, (ii) a detailed account of our database infrastructure, and (iii) lessons learned during our pilot year to assist future researchers with similar goals for other patient populations.

A predictive model for obstructive sleep apnea and Down syndrome

Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1–4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3–24 years. Exclusion criteria included previous adenoid and/or tonsil removal, a sleep study within the past 6 months, or being treated for apnea with continuous positive airway pressure. This study involved a physical examination/medical history, lateral cephalogram, 3D photograph, validated sleep questionnaires, an overnight polysomnogram, and urine samples. The main outcome measure was the apnea‐hypopnea index. Using a Logic Learning Machine, the best model had a cross‐validated negative predictive value of 73% for mild obstructive sleep apnea and 90% for moderate or severe obstructive sleep apnea; positive predictive values were 55% and 25%, respectively. The model included variables from survey questions, medication history, anthropometric measurements, vital signs, patients age, and physical examination findings. With simple procedures that can be collected at minimal cost, the proposed model could predict which patients with DS were unlikely to have moderate to severe obstructive sleep apnea and thus may not need a diagnostic sleep study.

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study

The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up‐to‐date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.

Detecting celiac disease in patients with Down syndrome.

The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms of CD are most often reported to DS specialty providers at these clinics, and, how many individuals were diagnosed with CD by these clinics. This was accomplished by following 663 individuals with DS for 1 year, across five clinics in different states specializing in the comprehensive care of people with DS. Of the 663 participants, 114 individuals were screened for CD at their visit to a DS specialty clinic. Protracted constipation (43.2%) and refractory behavioral problems (23.7%) were symptoms most often reported to DS specialty providers. During the 1 year study period, 13 patients screened positive for CD by serology. Of those, eight underwent duodenal biopsy, and three were diagnosed with CD. We conclude that CD is an important consideration in the comprehensive care of individuals with DS. However, while symptoms are common, diagnoses are infrequent in DS specialty clinics.