A randomized controlled trial of an online health tool about Down syndrome.

PURPOSE: We sought to determine if a novel online health tool, called Down Syndrome Clinic to You (DSC2U), could improve adherence to national Down syndrome (DS) guidelines. We also sought to determine if primary care providers (PCPs) and caregivers are satisfied with this personalized online health tool. METHODS: In a national, randomized controlled trial of 230 caregivers who had children or dependents with DS without access to a DS specialist, 117 were randomized to receive DSC2U and 113 to receive usual care. The primary outcome was adherence to five health evaluations indicated by national guidelines for DS. DSC2U is completed electronically, in all mobile settings, by caregivers at home. The outputs-personalized checklists-are used during annual wellness visits with the patient's PCP. RESULTS: A total of 213 participants completed a 7-month follow-up evaluation. In the intention-to-treat analysis, the intervention group had a 1.6-fold increase in the number of indicated evaluations that were recommended by the primary care provider or completed compared with controls. Both caregivers and PCPs reported high levels of satisfaction with DSC2U. CONCLUSIONS: DSC2U improved adherence to the national DS health-care guidelines with a novel modality that was highly valued by both caregivers and PCPs.

Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome.

Feeding and swallowing disorders have been described in children with a variety of neurodevelopmental disabilities, including Down syndrome (DS). Abnormal feeding and swallowing can be associated with serious sequelae such as failure to thrive and respiratory complications, including aspiration pneumonia. Incidence of dysphagia in young infants with DS has not previously been reported. To assess the identification and incidence of feeding and swallowing problems in young infants with DS, a retrospective chart review of 174 infants, ages 0-6 months was conducted at a single specialty clinic. Fifty-seven percent (100/174) of infants had clinical concerns for feeding and swallowing disorders that warranted referral for Videofluroscopic Swallow Study (VFSS); 96/174 (55%) had some degree of oral and/or pharyngeal phase dysphagia and 69/174 (39%) had dysphagia severe enough to warrant recommendation for alteration of breast milk/formula consistency or nonoral feeds. Infants with certain comorbidities had significant risk for significant dysphagia, including those with functional airway/respiratory abnormalities (OR = 7.2). Infants with desaturation with feeds were at dramatically increased risk (OR = 15.8). All young infants with DS should be screened clinically for feeding and swallowing concerns. If concerns are identified, consideration should be given to further evaluation with VFSS for identification of dysphagia and additional feeding modifications.

Rear-facing versus forward-facing child restraints: an updated assessment.

OBJECTIVES: The National Highway Traffic Safety Administration and the American Academy of Pediatrics recommend children be placed in rear-facing child restraint systems (RFCRS) until at least age 2. These recommendations are based on laboratory biomechanical tests and field data analyses. Due to concerns raised by an independent researcher, we re-evaluated the field evidence in favour of RFCRS using the National Automotive Sampling System Crashworthiness Data System (NASS-CDS) database. METHODS: Children aged 0 or 1 year old (0-23 months) riding in either rear-facing or forward-facing child restraint systems (FFCRS) were selected from the NASS-CDS database, and injury rates were compared by seat orientation using survey-weighted χ2 tests. In order to compare with previous work, we analysed NASS-CDS years 1988-2003, and then updated the analyses to include all available data using NASS-CDS years 1988-2015. RESULTS: Years 1988-2015 of NASS-CDS contained 1107 children aged 0 or 1 year old meeting inclusion criteria, with 47 of these children sustaining injuries with Injury Severity Score of at least 9. Both 0-year-old and 1-year-old children in RFCRS had lower rates of injury than children in FFCRS, but the available sample size was too small for reasonable statistical power or to allow meaningful regression controlling for covariates. CONCLUSIONS: Non-US field data and laboratory tests support the recommendation that children be kept in RFCRS for as long as possible, but the US NASS-CDS field data are too limited to serve as a strong statistical basis for these recommendations.

Obstructive sleep apnea in young infants with Down syndrome evaluated in a Down syndrome specialty clinic.

Children with Down syndrome (DS) experience congenital and functional medical issues that predispose them to obstructive sleep apnea (OSA). Research utilizing stringent age criteria among samples of infants with DS and OSA is limited. This study examines clinical correlates of OSA among infants with DS. A retrospective chart review was conducted of infants ≤6 months of age referred to a DS clinic at a tertiary children's hospital over five-years (n = 177). Chi-square tests and binary logistic regression models were utilized to analyze the data. Fifty-nine infants underwent polysomnography, based on clinical concerns. Of these, 95% (56/59) had studies consistent with OSA. Among infants with OSA, 71% were identified as having severe OSA (40/56). The minimum overall prevalence of OSA among the larger group of infants was 31% (56/177). Significant relationships were found between OSA and dysphagia, congenital heart disease (CHD), prematurity, gastroesophageal reflux disease (GERD), and other functional and anatomic gastrointestinal (GI) conditions. Results indicate that odds of OSA in this group are higher among infants with GI conditions in comparison to those without. Co-occurring dysphagia and CHD predicted the occurrence of OSA in 36% of cases with an overall predictive accuracy rate of 71%. Obstructive sleep apnea is relatively common in young infants with DS and often severe. Medical factors including GI conditions, dysphagia and CHD may help to identify infants who are at greater risk and may warrant evaluation. Further studies are needed to assess the impact of OSA in infants with DS.

Are parents following the recommendations for keeping children younger than 2 years rear facing during motor vehicle travel?

PURPOSE: Between 2007 and 2012 there have been several recommendations that infants and toddlers ride in a car safety seat (CSS) rear facing until 2 years of age. This study reports the effect of these recommendations on the observed direction of travel for infants and toddlers transported in motor vehicles between 2007 and 2012. METHODS: This is an observational, cross-sectional survey of drivers transporting children collected at 25 convenience locations selected in Indiana during summer 2007 through 2012. Observations were conducted by Certified Child Passenger Safety Technicians. As drivers completed a written survey, the Certified Child Passenger Safety Technician recorded the vehicle seating location, type of restraint, CSS direction and use of the CSS harness or safety belt as appropriate, and demographic data. The infant and toddler's age and weight were collected. Data from 2007 through 2012 for ages birth through 23 months were compared in order to determine if recommendations impacted observed direction of travel. RESULTS: During the study period, the percent of infants and toddlers (birth through 23 months) observed rear facing in a motor vehicle varied from 44.2% (2007) to 59.1% (2012). For infants (birth through 11 months) observed rear facing, it was 85.1% (2009) to 91.6% (2012). The percent of toddlers (12 months through 23 months) observed rear facing ranged from 3.3% (2008) to 18.2% (2012). CONCLUSIONS: During the study period, the proportion of toddlers rear facing increased approximately 15% (p=0.03). Counselling by primary care providers should continue and be strengthened to increase parent and caregiver awareness of the latest child passenger safety recommendations.

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Structural rearrangements of chromosome 19p are rare, and their resulting phenotypic consequences are not well defined. This is the first study to report a cohort of eight patients with subtelomeric 19p13.3 microdeletions, identified using clinical chromosomal microarray analysis (CMA). The deletion sizes ranged from 0.1 to 0.86 Mb. Detailed analysis of the patients' clinical features has enabled us to define a constellation of clinical abnormalities that include growth delay, multiple congenital anomalies, global developmental delay, learning difficulties, and dysmorphic facial features. There are eight genes in the 19p13.3 region that may potentially contribute to the clinical phenotype via haploinsufficiency. Moreover, in silico genomic analysis of 19p13.3 microdeletion breakpoints revealed numerous highly repetitive sequences, suggesting LINEs/SINEs-mediated events in generating these microdeletions. Thus, subtelomeric 19p13.3 appears important for normal embryonic and childhood development. The clinical description of patients with deletions in this genomic interval will assist clinicians to identify and treat individuals with similar deletions.

Children with special physical health care needs: restraint use and injury risk in motor vehicle crashes.

Physical disabilities may affect a child passenger's fit within a conventional motor vehicle restraint. The aim of this study is to describe and compare injury risk in motor vehicle crashes (MVC) among children with and without special physical health care needs (SPHCN). This analysis, conducted in 2007-2008, utilizes data collected between December 1998 and November 2002 in a cross-sectional study of children ≤15 years old involved in crashes of State-Farm insured vehicles in 15 states and the District of Columbia. Parent reports via telephone survey were used to define pre-crash SPHCN, restraint status, and occurrence of significant injuries using a validated survey. Complete data were collected for 18,852 children aged 0-15 years; 159 children were reported to have a SPHCN (0.8% and 0.7% of children aged 0-8 and 9-15 years, respectively). A greater proportion of children with SPHCN aged 0-8 years were appropriately restrained (P < 0.001), but there was no significant difference in restraint use among children with and without SPHCN aged 9-15 years. There was no significant association between the presence of a SPHCN and injury risk in either age group, after adjustment for child/driver characteristics (children aged 0-8 years: OR 1.27, 95% CI: 0.48-3.33; children aged 9-15 years: OR 1.51, 95% CI: 0.38-6.11). Children with and without SPHCN have similar injury risk in MVC, despite increased age-appropriate restraint usage among children aged 0-8 years. When counseling families about vehicle safety, practitioners should consider the fit of a child with SPHCN in a restraint system.

Transporting children in wheelchairs in passenger vehicles: a comparison of best practice to observed and reported practice in a pilot sample.

OBJECTIVE: We compared observed and reported practice among children with special health care needs transported in wheelchairs with the recommendations from the American National Standards Institute/Rehabilitation Engineering and Assistive Technology Society of North America Committee on Wheelchairs and Transportation voluntary standards for best practice for using wheelchairs in vehicles. METHOD: A convenience sample of vehicles exiting the garage of a children's hospital was observed. Certified child passenger safety technicians gathered driver demographics and the child's reported medical condition, weight, age, clinic visited, and relation to the driver. Technicians observed how the wheelchair and occupant were secured. RESULTS: A sample of 20 vehicles showed that 90% used four-point tie-down systems to secure the wheelchairs. A total of 88% of drivers tied the wheelchairs down correctly; only 20% used a separate lap-shoulder belts to secure the occupants. Twenty-five percent used lap trays, which are not recommended. Fifteen participants traveled with medical equipment secured inappropriately. CONCLUSION: Many deviations from best practice were observed and highlight areas for increased awareness, education, and resources for caregivers.

A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.

We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great-uncle, a half great-uncle, and six male half-cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup-to-disc ratio. In addition, the great-grandfather, the uncle, the same six male half-cousins once removed, and an affected daughter of a half-cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X-linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome.

Trends in child passenger safety practices in Indiana from 2009 to 2015.

OBJECTIVE: This study reviews trends in rear-facing direction, top tether use, booster seat use, and seating position for children 12 years or younger among motor vehicle passengers in Indiana. METHODS: This is an observational, cross-sectional survey of drivers transporting children 15 years and younger collected at 25 convenience locations randomly selected in Indiana during summers of 2009-2015. Observations were conducted by certified child passenger safety technicians (CPST). As the driver completed a written survey collecting demographic data on the driver, the CPST recorded the child demographic data, vehicle seating location, the type of restraint, direction the car safety seat (CSS) was facing, and use of the CSS harness or safety belt as appropriate. Data were analyzed for infants and toddlers younger than 24 months, children in forward-facing CSS, booster seat use, and seating position for children 12 years or younger. RESULTS: During the study period, 4,876 drivers were queried, and 7,725 children 15 years and younger were observed in motor vehicles. Between 2009 and 2015, 1,115 infants and toddlers (age birth to 23 months) were observed in motor vehicles. For infants <1 year, rear-facing increased from 84% to 91%. During the study years the greatest increase in rear facing was for toddlers age 12-17 months (12-61%). Rear facing for those from 18-23 months did not significantly change. Of the 1,653 vehicles observed with a forward-facing car seat, using either the seat belt system or lower anchors, an average of 27% had the top tether attached. For installations of forward-facing seats using the lower anchor, 66% employed the top tether. Among children age 4-7 years observed booster seat use decreased from 72% to 65% during the observation period. Finally, for vehicle seating position, in our sample, more than 85% of children 12 years or younger were seated in a rear seat vehicle position. Unfortunately, 31% of 8- to 12-year-old children were observed in the front seat. CONCLUSIONS: Overall, these trends demonstrate an improvement in child passenger safety practices among Indiana drivers. However, this study illuminates areas to improve child passenger safety, such as rear facing for toddlers 18 to 23 months, increasing top tether use, booster seat use, and an emphasis on rear seat position for children 8 to 12 years. This information can be used by primary care providers and child passenger safety technicians and other child passenger safety advocates to develop counseling points and targeted educational campaigns.

Ambulance transport of noncritical children: emergency medical service providers' knowledge, opinions, and practice.

PURPOSE: Safe ambulance transport of children presents unique challenges. Our study describes child passenger restraint practices during ambulance transport, Emergency Medical Service (EMS) providers' knowledge, training, and use of child passenger restraint devices (CRD). METHODS: A child passenger safety technician (CPST) recorded restraint used for pediatric ambulance transport. The CPST assessed and documented type of CRD used, securement, and whether the child was properly restrained. EMS providers' knowledge, training, and CRD use for ambulance transport were assessed. RESULTS: The study period spanned July 2009 to July 2010; 63 EMS personnel were interviewed and 40 children were observed. Approximately 75% of emergency medical technicians surveyed felt their knowledge of pediatric transport was adequate. Fourteen percent allowed a stable patient to be transported via parent's lap. Twelve percent were transported unrestrained. None of the 11 patients, birth to 3 years, were found to be transported correctly. CONCLUSION: Study findings supports education and training of EMS personnel to improve the safe ambulance transport of children.

Safely transporting children with autism spectrum disorder: evaluation and intervention.

OBJECTIVE: The purpose of this study was to investigate transportation practices of caregivers who transport children diagnosed with autism spectrum disorders (ASD). METHOD: We reviewed documented transportation evaluations of children with ASD. The evaluations were conducted by pediatric occupational therapists at an outpatient center of a large children's hospital. RESULTS: A review of 82 charts of patients diagnosed with ASD revealed that 74% of children with ASD were escaping their child safety restraint. More than 20% of parents reported that their child demonstrated aggressive or self-injurious behavior during travel, affecting not only their own safety but also that of others in the vehicle, including the driver. CONCLUSION: Escaping from a child restraint can be a life-threatening problem among children with ASD. Parents, caregivers, and health care professionals should be aware of services available from trained therapists, certified child passenger safety technicians, or both to maximize safety during personal travel in the family vehicle.