Impact of a Mental Health Screening Process in a Pediatric Emergency Department.

OBJECTIVE: The aim of this study was to describe how specific mental health-trained social workers can assist in the evaluations and follow-up of patients presenting with mental health concerns in the pediatric emergency department (ED). METHODS: Work was performed at a quaternary children's hospital ED with 95,000 annual ED visits across 2 locations. Patients requiring mental health services identified based on presenting complaint or from universal suicide screen were included. Emergency department team first evaluates the patients for medical screening and then consults a team of social workers specialized in acute mental health screening (AMHS). The team evaluates and provides recommendation for disposition and assists in plan completion. For patients not admitted, AMHS team makes 24- and 48-hour calls to ensure safety. We collected and analyzed the data on all eligible patients from September 2015 through June 2019 for (1) demographic information, (2) trends in number of consults to AMHS, (3) disposition plans and trends by year, and (4) frequency of follow-up phone calls. RESULTS: A total of 5950 patient visits were reviewed, for 4454 distinct patients. Most patients were 12 to 17 years of age, female, and White, with Medicaid being the predominant insurance. The most common chief complaint was suicidal ideation/plan/attempt. Self-referrals were the majority of assessments, and 59% of patients were already receiving mental health services. Median team response time was 19 minutes. There was an upward trend in consults. Psychiatric hospitalization was the most common disposition; more than 95% of the other visits had timely follow-up phone calls. CONCLUSION: Despite an increasing number of patients presenting to the ED with mental health crisis, safe and efficient management is possible with ED staff-social worker partnership. This approach can ensure that eligible patients receive consistent and evidence-based evaluations and can allow ED clinicians to respond to medical emergencies that require their attention.

Adverse childhood experiences and the development of Down syndrome regression disorder.

Down syndrome regression disorder (DSRD) is a clinical symptom cluster of acute or subacute neurocognitive regression in otherwise health persons with Down syndrome. The objective of this study was to evaluate if adverse childhood experiences (ACEs) were more prevalent in children with DSRD than those with DS alone. A survey-based, cohort-based study was performed. Caregivers of individuals with DSRD with onset of symptoms between age 10 and 30 years and DS alone were administered the ACEs questionnaire via an online REDCap survey. A total of 159 responses were collected after excluding incomplete surveys and those not meeting criteria for DSRD. Individuals with DSRD were not more likely to experience ACEs (p = 0.18, 95% confidence interval [CI]: 0.43-1.17). In those with ACEs prior to the onset of symptoms, the median time prior was 7 months (interquartile range: 5-10). Individuals with DSRD were more likely to report three or more ACEs (52, 33%) compared to those with DS alone (39, 22%) (p = 0.02, 95% CI: 1.08-2.87). Exposure to ACEs were not predictive of response to particular therapeutic interventions although those with multiple ACEs 3 months prior to the onset of symptoms was associated with lower response rates to benzodiazepines and immunotherapy (p = 0.02, 95% CI: -3.64--1.13). This study provides preliminary data that individuals with DSRD experience ACEs at a similar rate to individuals with only DS alone, although three or more ACEs, often preceding the onset of symptoms, was more prevalent in individuals with DSRD.

Physical Restraint Use in the Pediatric Emergency Department.

ABSTRACT: Children and adolescents can present to the emergency department with acute agitation and aggression due to various physical and/or mental health conditions. With acute agitation/aggression, these patients may present a risk of injury to themselves, their caregivers, or emergency department providers/staff. It is imperative for providers to understand how to safely care for these children. When initial deescalating interventions fail or an underlying etiology for the behavior change cannot be found, the use of physical restraints may be required. Without proper training or preparation, physical restraints can lead to significant morbidity and mortality. Given these potential risks, strict guidelines have been set out by the Center for Medicare and Medicaid Services and the Joint Commission regarding the use of physical restraints in the pediatric population. This article will review approaches to the acutely agitated/aggressive patient, the appropriate use of physical restraints, and recommended assessment/documentation of restraints in the acutely agitated/aggressive pediatric patient.

Diagnosis and Management of Pediatric Gastroesophageal Reflux in the Emergency Department.

ABSTRACT: Gastroesophageal reflux (GER) is a common physiologic occurrence in infants, children, and adolescents and can develop into a pathological process (GERD) with associated complications. Gastroesophageal reflux is reported in approximately 30% of healthy infants, with a peak age of 3 to 4 months and is a common concern from families presenting to the emergency department. Evaluation and diagnosis of GER/GERD is primarily clinical and requires a detailed history, a complete physical examination, and exclusion of more severe extraesophageal pathologies. A high index of suspicion for GERD should be considered in patients with recurrent respiratory symptoms, difficulty with weight gain, and children with medically complex conditions who would be at higher risk for these complications. This review will briefly discuss diagnostic studies for the evaluation of GER/GERD; however, these are not helpful in the acute care setting and should be reserved for evaluation by a subspecialist. Management of GER/GERD includes nonmedication management with reflux precautions and dietary/lifestyle modifications; medication management with proton-pump inhibitors, H2 blockers, antacids, or prokinetics, as well as surgical management for refractory or high-risk cases.

Preliminary psychometric properties of an inhibition task in young children with Down syndrome.

Background: Executive function (EF) skills are important treatment targets for people with Down syndrome (DS); however, few EF measures have been evaluated for use with young children in this population. Methods: The present study evaluated preliminary psychometric properties of a measure of the EF component of inhibition. Participants were 73 children with DS between 2.5 and 8.67 years old who completed an adapted ability to delay task using a desirable toy. Results: Across two separate trials, latencies to touch the toys were significantly correlated. Latencies increased overall with chronological and mental age, with caveats for the youngest and oldest participants. Conclusion: Findings suggest that an adapted prohibition task is an appropriate method of measuring inhibition for children with DS between 4 and 7 years old, though many children in this chronological age range are at early stages of acquiring this skill set.

The Effect of Early Knowledge of Respiratory Syncytial Virus Positivity on Medical Decision Making and Throughput Time Within the Pediatric Emergency Department.

OBJECTIVE: The aim of this study was to evaluate whether early knowledge of respiratory syncytial virus (RSV) positivity by rapid triage-based testing protocol improved emergency department (ED) throughput time and decreased ED ancillary testing and antibiotic administration. METHODS: A retrospective cohort study was performed of ED patients aged 2 to 12 months, presenting November 1 to March 31 for the years 2008-2013. Included patients presented with fever and upper respiratory tract symptoms. Patients were excluded if they tested positive for influenza, had chronic underlying medical problems, or were admitted or transferred from an outside facility or if no RSV result was documented. The study group was compared with infants who tested negative for RSV by the triage-based protocol and were diagnosed as having (1) bronchiolitis and (2) a viral illness. RESULTS: Of 899 patients tested for RSV within triage, the study included 713 (79%); 231 (35.3%) tested positive for RSV. When comparing children diagnosed as having bronchiolitis, there was no statistically significant difference between RSV positive and negative in ED throughput time, ED administered antibiotics, or chest radiographs, urine analyses, blood cultures, or lumbar punctures obtained. When comparing children diagnosed as having a viral illness, RSV-positive patients had less chest radiographs, urine analysis, and blood cultures performed. CONCLUSIONS: Identifying the virus responsible for bronchiolitis through a triage-based protocol does not decrease ED throughput time, antibiotic administration, or chest radiographs, urine analysis, or blood cultures obtained. In infants presenting with upper respiratory tract symptoms and fever, knowing RSV infectivity through a triage-based protocol does significantly decrease chest radiographs, urine analysis, and blood cultures obtained.

Can a Septic Hip Decision Rule Aid in the Evaluation of Suspected Pediatric Musculoskeletal Infections?

BACKGROUND: Musculoskeletal (MSK) infections can be difficult to diagnose in acute care settings. The utility of clinical decision tools for pediatric MSK infections in an emergency department has not been well studied. OBJECTIVE: Our aim was to evaluate the performance of a septic hip clinical decision rule (CDR) in the evaluation of pediatric musculoskeletal infections. METHODS: We performed a retrospective study of children evaluated for an MSK infection in our emergency department from 2014 to 2016. Data collection included demographics, discharge diagnoses, and clinical/laboratory predictors from the CDR. A χ2 analysis and Wilcoxon rank-sum tests compared patients with and without MSK infections. Logistic regression analysis examined the predictors for MSK infections. A receiver operating characteristic (ROC) curve was calculated to evaluate the performance of the predictors. RESULTS: Of 996 evaluations included in the final analysis, 109 (10.9%) had MSK infections. In a multivariable model, an adjusted odds ratio (OR) was significant for fever (OR 3.9, 95% confidence interval [CI] 2.4-6.4), refusal to bear weight/pseudoparalysis (OR 4.4, 95% CI 2.7-7.1), and C-reactive protein (CRP) > 2.0 mg/dL (OR 5.4, 95% CI 3.2-9.1). The probability of infection was 75.1% with five predictors present, 1.9% for zero predictors, and 5.1% if one predictor was present. An ROC curve showed an area under the curve of 0.82, indicating moderate accuracy. CONCLUSIONS: A septic hip CDR demonstrates a low predicted probability of an MSK infection with zero or one clinical predictor present and moderate predictability with all five predictors. Fever, refusal to bear weight/pseudoparalysis, and CRP > 2.0 mg/dL performed best and should alert providers to consider other MSK infections in addition to septic arthritis.

Pediatric Emergency Medicine Point-of-Care Ultrasound for the Diagnosis of Intussusception.

BACKGROUND: Delayed diagnosis of intussusception can lead to air enema failure and increased morbidity. There are limited studies reporting the accuracy of pediatric emergency medicine (PEM) physician point-of-care ultrasound (POCUS) in diagnosing intussusception. OBJECTIVES: The primary objective was to evaluate the accuracy of PEM POCUS in identifying ileocolic intussusception. The secondary objective was to identify factors associated with air enema failure. METHODS: This was a retrospective study of children who underwent POCUS for suspected intussusception in a pediatric emergency department between January 2001 and December 2015. Patients were included if a pediatric radiologist confirmed the POCUS examination interpretation by image review, radiology department ultrasound, or air enema. Age, symptom duration, recurrent intussusception, and location of intussusception were examined as factors for air enema failure. RESULTS: One hundred and two POCUS examinations were completed on 101 patients who met the inclusion criteria. The mean age of patients was 22 months. Of 75 patients with intussusception, 72 were detected with POCUS. PEM POCUS had a sensitivity of 96.0% (95% confidence interval [CI] 91.6-100.0%), specificity of 92.6% (95% CI 82.7-100.0%), positive predictive value of 97.3% (95% CI 93.6-100.0%), and negative predictive value of 89.3% (95% CI 77.8-100.0%). Air enema failure was associated with intussusception distal to the splenic flexure (odds ratio = 10.00 [95% CI 2.81-35.61]; p < 0.01) and age <6 months (OR = 6.83 [95% CI 1.94-24.09]; p < 0.01). CONCLUSION: PEM POCUS identifies intussusception with high sensitivity and specificity. Patients <6 months old or with intussusception distal to the splenic flexure had a higher risk of air enema failure.

Experience With a Care Process Model in the Evaluation of Pediatric Musculoskeletal Infections in a Pediatric Emergency Department.

OBJECTIVES: Care process models (CPMs) for certain conditions have improved clinical outcomes in children. This study describes the implementation and impact of a CPM for the evaluation of musculoskeletal infections in a pediatric emergency department (ED). METHODS: A retrospective pre-post intervention study was performed to analyze the impact of a musculoskeletal infection CPM. Patients were identified retrospectively through electronic order history for imaging of an extremity or joint and recommended laboratory tests. Clinical outcomes evaluated included hospital length of stay (LOS), time to magnetic resonance imaging (MRI), time to administration of antibiotics, hospital admission rate, and 30-day readmission rate. RESULTS: Musculoskeletal infection evaluations completed in the ED were reviewed from 1 year before implementation (n = 383) and 2 years after implementation (n = 1219) of the CPM. A significant improvement in the time to antibiotic administration for all patients (4.3 vs 3.7 hours, P < 0.05) and for patients with confirmed musculoskeletal infections (9.5 vs 4.9 hours, P < 0.05) was observed after the implementation of the CPM. The overall time to MRI (13.2 vs 10.3 hours, P = 0.29) and hospital LOS (4.7 vs 3.7 days, P = 0.11) were improved for all patients but were not statistically significant. The admission rate and 30-day readmission were similar before and after the implementation of the CPM. CONCLUSIONS: The implementation of a musculoskeletal infection CPM has standardized the approach to the evaluation and diagnosis of musculoskeletal infections resulting in a significant decrease in the time to administer antibiotics and a downward trend in time to MRI and hospital LOS.

Compassion Fatigue in Pediatric Emergency Department Staff.

INTRODUCTION: Compassion fatigue, a product of burnout (BO), secondary traumatic stress (STS), and compassion satisfaction (CS), is reduced capacity and interest in being empathetic for suffering individuals. Our objective was to determine prevalence of compassion fatigue in the pediatric emergency department. METHODS: We administered the Professional Quality of Life instrument, including BO, STS, and CS scales, to a convenience sample of pediatric emergency department staff (physicians, nurses, technicians, social workers, child life specialists). We categorized participants as having BO (high BO, low CS, moderate-low STS scores), STS (high STS, moderate-low BO, low CS), compassion fatigue (high STS and BO, low CS), and high-risk fatigue (high STS, moderate-low BO, low CS) and low risk (moderate-high CS, moderate-low BO, low STS) of compassion fatigue. RESULTS: One hundred seventy-seven staff (50% response rate) participated. The majority were white (90%) and female (88%), with participation highest among physicians (97%). Twenty-six percent had low CS scores, 26% had high BO scores, and 20% had high STS scores. Five percent met criteria for categorization as compassion fatigue, 24% for BO, and 24% for low risk of compassion fatigue. Current personal stress was associated with higher BO scores (P = 0.008) and secondary categorization as BO (P = 0.05). Recent work stress was associated with high STS scores (P = 0.03). DISCUSSION: Five percent of participants met criteria for compassion fatigue; a significant proportion had BO, STS, or CS scores, placing them at risk of compassion fatigue. Future studies should explore factors contributing to and interventions to minimize compassion fatigue.

Management of simple nail bed lacerations and subungual hematomas in the emergency department.

Fingertip crush injuries are common hand injuries in children and often are evaluated initially in an emergency department. Nail bed injuries can be classified into subungual hematomas, simple or stellate lacerations, crush injuries, and avulsions. Emergency department physicians with good knowledge of fingertip anatomy can appropriately manage these injuries so as to prevent long-term fingertip deformities and functional deficits. The management of simple nail bed lacerations and subungual hematomas has remained somewhat controversial with much debate surrounding the necessity of removing the nail plate for repair of a nail bed laceration versus trephination alone of a large subungual hematoma. This article will discuss the management and evaluation of simple nail bed injuries by emergency department physicians to prevent chronic nail and fingertip deformities.

Unilateral Facial Swelling in a Sickle Cell Patient.

Acute soft head syndrome (ASHS) is a rare complication of sickle cell disease that often requires a high index of suspicion and is often a diagnosis of exclusion. We present the case of an 18-year-old male with sickle cell disease in the United States who developed acute soft head syndrome without known traumatic injury. The goal of this case presentation is to provide awareness and education regarding a rare complication of sickle cell disease and recommended management for the associated symptoms.

Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers.

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers' initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support.

JAK inhibition in Down Syndrome Regression Disorder.

Down Syndrome Regression Disorder (DRSD) is an uncommon but devastating condition affecting primarily adolescents and young adults with Down syndrome (DS). Individuals with DS display a dysregulated immune system associated with hyperactive interferon signaling, which is associated with a high incidence of autoimmune conditions. While the cause of DSRD is unknown, increasing evidence indicates that it may have an immune basis, and some individuals with DSRD have responded to intravenous immunoglobulin therapy. This case series describes three individuals with probable DSRD who received the JAK inhibitor tofacitinib and saw improvement in DSRD symptoms across multiple domains of neurological function.

Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.

OBJECTIVE: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. METHODS: A multicenter, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30 years and meeting international consensus criteria for DSRD were included. The presence of T1, T2/FLAIR, and SWI signal abnormalities was reviewed. Response rates to various therapies, including immunotherapy, were evaluated in the presence of neuroimaging abnormalities. RESULTS: In total, 74 individuals (35%) had either T2/FLAIR and/or SWI signal abnormality compared to 14 individuals (12%) without DSRD (p < 0.001, 95%CI: 2.18-7.63). T2/FLAIR signal abnormalities were not appreciated more frequently in individuals with DSRD (14%, 30/210) than in the control cohort (9%, 11/119) (p = 0.18, OR: 1.63, 95%CI: 0.79-3.40). SWI signal abnormalities were appreciated at a higher frequency in individuals with DSRD (24%, 51/210) compared to the control cohort (4%, 5/119) (p < 0.001, OR: 7.31, 95%CI: 2.83-18.90). T2/FLAIR signal abnormalities were localized to the frontal (40%, 12/30) and parietal lobes (37%, 11/30). SWI signal abnormalities were predominantly in the bilateral basal ganglia (94%, 49/52). Individuals with DSRD and the presence of T2/FLAIR and/or SWI signal abnormalities were much more likely to respond to immunotherapy (p < 0.001, OR: 8.42. 95%CI: 3.78-18.76) and less likely to respond to benzodiazepines (p = 0.01, OR: 0.45, 95%CI: 0.25-0.83), antipsychotics (p < 0.001, OR: 0.28, 95%CI: 0.11-0.55), or electroconvulsive therapy (p < 0.001, OR: 0.12; 95%CI: 0.02-0.78) compared to individuals without these neuroimaging abnormalities. INTERPRETATION: This study indicates that in individuals diagnosed with DSRD, T2/FLAIR, and SWI signal abnormalities are more common than previously thought and predict response to immunotherapy.

JAK inhibition decreases the autoimmune burden in Down syndrome.

Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmune disorders and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined. Here, we report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS. We demonstrate multi-organ autoimmunity of pediatric onset concurrent with unexpected autoantibody-phenotype associations. Importantly, constitutive immune remodeling and hypercytokinemia occur from an early age prior to autoimmune diagnoses or autoantibody production. We then report the interim analysis of a Phase II clinical trial investigating the safety and efficacy of the JAK inhibitor tofacitinib through multiple clinical and molecular endpoints. Analysis of the first 10 participants to complete the 16-week study shows a good safety profile and no serious adverse events. Treatment reduced skin pathology in alopecia areata, psoriasis, and atopic dermatitis, while decreasing interferon scores, cytokine scores, and levels of pathogenic autoantibodies without overt immune suppression. Additional research is needed to define the effects of JAK inhibition on the broader developmental and clinical hallmarks of DS. ClinicalTrials.gov identifier: NCT04246372.

Access to Care Limitations: When Distance and Lack of Evidence Meet.

CASE: Jimmy is a 13-year-old adolescent boy who was diagnosed with Down syndrome (trisomy 21) prenatally. Jimmy is the only individual with Down syndrome in the small, rural community where he lives with his parents. He has mild sleep apnea, and his gross and fine motor developmental milestones were generally consistent with those expected among children with Down syndrome. At age 4, his parents raised concerns about his limited language, strong preference to be alone, and refusal to leave the house. Parents had observed his marked startle response to loud laughter and adult male voices. At age 7, his preferred activities consisted of dangling necklaces or shoelaces in front of his face and rocking his body forward and backward when seated. After limited progress in special education, speech, and occupational therapies, he was referred, at age 8, to a specialty center 3 hours from his home for a multidisciplinary evaluation. There, he received a diagnosis of co-occurring autism spectrum disorder (ASD).Over the last year, his repetitive behaviors have become more intense. He hits the side of his head with his fist and presses his thumbs into his eyes, causing bruising. Any attempts to remove his dangle objects are met with aggressive behaviors, including hitting, kicking, scratching, and elopement. At school, he refuses to complete work and sometimes hits his teacher. Aggression stops in the absence of educational demands. School staff informed parents they are not equipped to handle Jimmy's behaviors.Jimmy recently presented to the specialty center for developmental-behavioral pediatric and psychology support at the request of his primary care clinician. The developmental pediatrician discussed with Jimmy's parents the possibility of a trial of medication to address disruptive/aggressive behavior if there is not improvement with initiation of behavioral strategies. The psychologist began weekly behavioral parent training visits through telehealth, including prevention strategies, reinforcement, and functional communication training. The strategies have helped decrease the frequency of elopement and aggressive behaviors. Self-injurious behaviors and refusal at school have remained constant.Despite some stabilization, limited local resources as well as the lack of evidence-based guidelines for people with both Down syndrome and ASD have impeded improvements in Jimmy's significant behavioral and developmental challenges. His parents have become increasingly isolated from critical family and community support as well. In what ways could the clinicians and community support this child and his family and prevent others from experiencing similar hardships?

Longitudinal Predictors of Neurodevelopmental Outcomes in Children with Down Syndrome.

This study examined longitudinal predictors of neurodevelopmental outcomes in children with Down syndrome (DS). Participants were assessed at Wave 1 during infancy on measures of looking behavior and caregivers provided infant sensory ratings. At Wave 2, child-age participants completed a developmental assessment and caregivers provided ratings of executive function, ADHD symptoms, and autism symptoms. Longer looking durations and greater sensory dysregulation during infancy were predictive of higher ADHD symptom ratings and other neurodevelopmental outcomes during childhood. The findings suggest that early indicators of neurodevelopmental dysregulation may be detectable during infancy in DS.

Co-occurring conditions in children with Down syndrome and autism: a retrospective study.

BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions.

Psychometric evaluation of a working memory assessment measure in young children with Down syndrome.

BACKGROUND: Working memory involves the temporary storage and manipulation of information and is frequently an area of challenge for individuals with Down syndrome (DS). Despite the potential benefits of intervention, laboratory assessments of working memory that could capture intervention effects have not undergone rigorous evaluation for use with young children with DS. It is critical to evaluate assessments of working memory in young children with DS to ensure the reliable and accurate measurement of performance. AIM: This study evaluated an adapted laboratory measure of working memory for young children with DS 2-8 years old. METHOD: A self-ordered pointing task, the Garage Game, was administered to 78 children with DS (mean = 5.17 years; SD = 1.49). Adaptations were made to the task to minimize potential DS phenotype-related language and motor confounds. RESULTS: Results indicate that the measure is feasible, scalable, and developmentally sensitive, with minimal floor and practice effects for this population within this chronological and developmental age range. CONCLUSION: These findings demonstrate that the Garage Game is promising for use in studies of early working memory and treatment trials that aim to support the development of this critical dimension of executive functioning for children with DS.