Assessment of comorbid symptoms in pediatric autonomic dysfunction.

PURPOSE: Pediatric patients with autonomic dysfunction and orthostatic intolerance (OI) often present with co-existing symptoms and signs that might or might not directly relate to the autonomic nervous system. Our objective was to identify validated screening instruments to characterize these comorbidities and their impact on youth functioning. METHODS: The Pediatric Assembly of the American Autonomic Society reviewed the current state of practice for identifying symptom comorbidities in youth with OI. The assembly includes physicians, physician-scientists, scientists, advanced practice providers, psychologists, and a statistician with expertise in pediatric disorders of OI. A total of 26 representatives from the various specialties engaged in iterative meetings to: (1) identify and then develop consensus on the symptoms to be assessed, (2) establish committees to review the literature for screening measures by member expertise, and (3) delineate the specific criteria for systematically evaluating the measures and for making measure recommendations by symptom domains. RESULTS: We review the measures evaluated and recommend one measure per system/concern so that assessment results from unrelated clinical centers are comparable. We have created a repository to apprise investigators of validated, vetted assessment tools to enhance comparisons across cohorts of youth with autonomic dysfunction and OI. CONCLUSION: This effort can facilitate collaboration among clinical settings to advance the science and clinical treatment of these youth. This effort is essential to improving management of these vulnerable patients as well as to comparing research findings from different centers.

Creating a data dictionary for pediatric autonomic disorders.

PURPOSE: Whether evaluating patients clinically, documenting care in the electronic health record, performing research, or communicating with administrative agencies, the use of a common set of terms and definitions is vital to ensure appropriate use of language. At a 2017 meeting of the Pediatric Section of the American Autonomic Society, it was determined that an autonomic data dictionary comprising aspects of evaluation and management of pediatric patients with autonomic disorders would be an important resource for multiple stakeholders. METHODS: Our group created the list of terms for the dictionary. Definitions were prioritized to be obtained from established sources with which to harmonize. Some definitions needed mild modification from original sources. The next tier of sources included published consensus statements, followed by Internet sources. In the absence of appropriate sources, we created a definition. RESULTS: A total of 589 terms were listed and defined in the dictionary. Terms were organized by Signs/Symptoms, Triggers, Co-morbid Disorders, Family History, Medications, Medical Devices, Physical Examination Findings, Testing, and Diagnoses. CONCLUSION: Creation of this data dictionary becomes the foundation of future clinical care and investigative research in pediatric autonomic disorders, and can be used as a building block for a subsequent adult autonomic data dictionary.

PICU Early Mobilization and Impact on Parent Stress.

BACKGROUND AND OBJECTIVES: Early mobilization of critically ill children may improve outcomes, but parent refusal of mobilization therapies is an identified barrier. We aimed to evaluate parent stress related to mobilization therapy in the PICU. METHODS: We conducted a cross-sectional survey to measure parent stress and a retrospective chart review of child characteristics. Parents or legal guardians of children admitted for ≥1 night to an academic, tertiary-care PICU who were proficient in English or Spanish were surveyed. Parents were excluded if their child's death was imminent, child abuse or neglect was suspected, or there was a contraindication to child mobilization. RESULTS: We studied 120 parent-child dyads. Parent mobilization stress was correlated with parent PICU-related stress (rs [119] = 0.489; P ≤ .001) and overall parent stress (rs [110] = 0.272; P = .004). Increased parent mobilization stress was associated with higher levels of parent education, a lower baseline child functional status, more strenuous mobilization activities, and mobilization therapies being conducted by individuals other than the children's nurses (all P < .05). Parents reported mobilization stress from medical equipment (79%), subjective pain and fragility concerns (75%), and perceived dyspnea (24%). Parent-reported positive aspects of mobilization were clinical improvement of the child (70%), parent participation in care (46%), and increased alertness (38%). CONCLUSIONS: Parent mobilization stress was correlated with other measures of parent stress and was associated with child-, parent-, and therapy-related factors. Parents identified positive and stressful aspects of mobilization therapy that can guide clinical care and educational interventions aimed at reducing parent stress and improving the implementation of mobilization therapies.

Brief educational "curbside consultation": Impact on attention-deficit/hyperactivity disorder referrals in an integrated healthcare setting.

INTRODUCTION: As behavioral health providers integrate into primary health care clinics, it is important to examine methods used to increase primary care providers' (PCPs) knowledge of behavioral health providers' areas of expertise and service provision. Attention-deficit/hyperactivity disorder (ADHD) has been identified as one of the most common behavioral health disorders PCPs diagnose and treat in children. METHOD: This study examined whether 2 brief educational "curbside consults," during which a psychologist provided information regarding the assessment and treatment of ADHD, had an impact on PCPs' referral practices. Information was collected via medical records review for the same 6-month period prior to and following provider education. RESULTS: The results indicated that there was an increase in ADHD referrals to the behavioral health clinic (BHC) following educational consultation. In addition, there was some evidence to suggest that following PCP education, fewer children were diagnosed by the PCP with ADHD and fewer children were previously prescribed a psychotropic medication upon referral to the BHC. Treatment (e.g., behavioral therapy, pharmacotherapy, combined approach) also differed between families previously diagnosed and prescribed psychotropic medication. DISCUSSION: The current study provides some preliminary evidence that brief educational consultation with PCPs may increase both referrals for ADHD concerns and may influence the way PCPs diagnose and address behavioral health concerns. Implications of these findings and suggestions for future research are discussed. (PsycINFO Database Record

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.

OBJECTIVE: Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by cholesterol synthesis impairment. A host of physical, developmental, and behavioral presentations are associated with SLOS, many of which have been related with disorder severity. Sleep disturbance is commonly reported in SLOS. This study is the first to examine the association between sleep disturbance and biomarkers of cholesterol synthesis defect. METHOD: Twenty youth with SLOS participated. Biomarkers of cholesterol synthesis were obtained, including plasma sterols (i.e., 7-dehydrocholesterol, 8-dehydrocholesterol, and cholesterol), mevalonic acid, and 24-S hydroxycholsterol. A ratio of plasma cholesterol precursors to cholesterol levels was used as a measure of biochemical severity. Parents reported their children's sleep problems using the Children's Sleep Habits Questionnaire. RESULTS: Most markers of cholesterol synthesis disruption were associated with overall sleep disturbance. Biochemical severity of SLOS was also associated with specific sleep problems (e.g., decreased sleep duration and increased sleep onset delay) and was identified as a significant predictor of these factors. CONCLUSION: This study is the first to demonstrate associative relationships between cholesterol levels and sleep disturbance in youth with SLOS. These results add to the current understanding of how cholesterol levels may contribute to the behavioral phenotype of SLOS. These findings may inform future studies related to the role cholesterol synthesis defects play in the behavioral phenotype of SLOS and, subsequently, modalities of intervention for behavioral symptoms.