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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. 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. 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. DSC2U improved adherence to the national DS health-care guidelines with a novel modality that was highly valued by both caregivers and PCPs.

* Abbreviation: CSTS — : car seat tolerance screening The article by Magnarelli et al1 in this issue of Pediatrics highlights 3 major issues of importance to clinicians and families caring for infants born late preterm. One is the importance of determining cardiorespiratory stability, especially before being tested for car seat tolerance in preparation for discharge; the second is the importance of appropriate use of car safety seats at the time of hospital discharge; and the third is the value of having a hospital discharge policy in place. The continuing discussion regarding the value of car seat tolerance screening (CSTS) is further informed by this review because it strengthens the need for CSTS. A significant percentage (4.6%) of infants born late … Address correspondence to Marilyn J. Bull, MD, FAAP, Department of Developmental Pediatrics, Riley Hospital for Children at Indiana University Health, 1002 Wishard Blvd, Suite 3120, Indianapolis IN 46202. E-mail: mbull{at}iu.edu

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 sequellae 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 to 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 non-oral 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.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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.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.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 infants1 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.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.

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. © 2015 Wiley Periodicals, Inc.

ObjectivesThe 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.MethodsChildren 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 χ2tests. 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.ResultsYears 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.ConclusionsNon-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.

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.

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 toddler9s 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.

PURPOSE: This study compares child passenger safety (CPS) practices of grandparents versus parents and determines grandparents' opinions on car safety seats (CSS), barriers to use, and ways to transport grandchildren safely. METHODS: Observational surveys were conducted on a convenience sample of drivers transporting children younger than sixteen years at 25 locations by certified child passenger safety technicians observing children in motor vehicles and recorded use of child passenger restraints. The drivers were surveyed on their knowledge, attitudes, beliefs, and practices regarding CPS. Data from drivers identifying themselves as grandparents were analyzed; also, three grandparent focus groups provided opinions on CPS practices. RESULTS: During the study 1758 parents transporting 2713 children and 284 grandparents transporting 391 grandchildren were included. While most drivers were restrained and used child occupant restraints, almost 25% of parents and grandparents chose the incorrect seat to transport the child, and greater than 68% had at least one harness error. Grandparents were more likely to have looser lower anchor straps or seat belts and have children younger than thirteen years in the front seat. The focus group-grandparents had a favorable attitude toward CSS. Grandparents acknowledged the need for CSS but opined that CSS were difficult to use. Physical barriers included arthritis, back pain, mobility, decreased strength, and vision problems. CONCLUSIONS: Grandparents and parents were equally likely to use CSS and choose correct seats. Compared to parents, grandparents were more likely to travel with their grandchildren with CSS installed with looser harnesses or an installed CSS with looser seat belt or lower anchors. Additionally, grandparents were more likely to have a child younger than thirteen years in the front seat. The use of community resources such as permanent fitting stations could help grandparents improve a grandchild's travel safety. Language: en

This article provides information for specialists in physical medicine and rehabilitation who may be called on to provide information about transporting children with special health care needs (CSHCN). The authors review the basic principles of child passenger safety for CSHCN, including types of child occupant restraints, the use of child occupant restraint devices (CRD) for selected CHSCN, and how to locate or, if needed, develop programs to train child passenger safety technicians (CPST) to help with safe transportation of CSHCN. They cover specific child occupant restraint devices such as car beds, car safety seats, travel vests, specialized medical seats, and seat belts. Their review is adapted from the resource manual of the National Center for the Safe Transportation of Children with Special Health Care Needs. A final section discusses behavior challenges, ambulance transport, and the use of community resources to provide support for this special population.

OBJECTIVE: We compare the use of the American Academy of Pediatrics (AAP) guidelines for the safe transportation of children with special health care needs (CSHCN) with reported and observed practices. METHODS: This observational study was based on a convenience sample of vehicles exiting the garage of a tertiary children's hospital. Certified child passenger safety technicians with a health care background and specialized training in the transportation of CSHCN gathered the driver's demographic information and the child's reported medical condition, weight, age, clinic visited, and relation to the driver. The safety technicians observed the car safety seat (CSS) type, vehicle seating position, and if the child required postural support. RESULTS: During the study, 275 drivers transporting 294 CSHCN were observed. Overall, most drivers complied with AAP recommendations by using a standard CSS seat (75.4%). Among the seats evaluated, 241 (82.0%) were the appropriate choice, but only 75 (26.8%) of 280 assessed had no misuses. Approximately 24% of the drivers modified the CSS, and 19.4% of the children would have benefited from additional body-positioning support. Only 8% of medical equipment was properly secured. CONCLUSIONS: Although most drivers seemed to choose the appropriate seat, many had at least 1 misuse. Drivers complied with most AAP recommendations; however, some deviated to facilitate care of the child during transport. Discussions with parents or caregivers about the proper transportation of CSHCN and referrals to child passenger safety technicians with special training may improve safety, care, and comfort in the vehicle.

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.

SUMMARY The authors evaluated 89 infants who had had computed tomography of the head and who were followed-up for a minimum of one year. In a large proportion with moderate ventriculomegaly spontaneous stabilization or regression occurred, with normal developmental outcome in a high percentage of cases. However, there was a statistically significant trend toward lower developmental scores as ventricular size increased. Many infants with ventricular enlargement will not develop progressive hydrocephalus, but their cognitive and psychomotor development may be affected. RESUME Devenir des nouveaux-nes a haut risque avec ventriculomegalie 89 nourrissons ayant beneficie d'un scanner de la tete ont ete suivis au moins un an dans un service de suite. Un nombre important d'enfants qui presentaient une ventriculomegalie moderee ont evolue spontanement vers la stabilisation ou la regression de la ventriculo-megalie avec generalement un developpement normal ulterieur. Cependant, il a ete observe une correlation statistiquement significative entre des scores developpement plus bas et le degre de dilatation ventriculaire. Nous en concluons que de nombreux enfants presentant une dilatation ventriculaire n'evoluent pas vers une hydrocephalie progressive mais peuvent avoir un developpement cognitif et psycho-moteur compromis. ZUSAMMENFASSUNG Ergebnis bei Risikoneugeborenen mit Ventrikulomegalie 89 Saulinge, bei denen ein Computertomogramm des Kopfes gemacht worden war, wurden mindestens ein Jahr in einer Nachsorgeklinik kontrolliert. Viele der Sauglinge mit masiger Ventrikulomegalie zeigten eine spontane Stabilisation oder einen Ruckgang der Ventrikulomegalie mit weitgehend normaler Entwicklung. Bei zunehmender Ventrikel-grose jedoch fand ein signifikant schlechteres Ergebnis beim Entwicklungstest zugrunde gelegt wurden. Wir schliesen daraus, das viele Sauglinge mit einer Ventrikelerweiterung keinen progressiven Hydrocephalus entwickeln, eventuell aber eine eingeschrankte kognitive und psychomotorische Entwicklung haben. RESUMEN Curso posterior de recien nacidos con alto riesgo con ventriculomegalia 89 ninos explorados con tomografia computarizada de la cabeza, fueron seguidos durante un minimo de un ano en la Clinica de Seguimiento. Un gran numero de ninos con ventriculomegalia moderada experimento una estabilizacion o regresion espontanea de la ventriculomegalia, con un desarrollo posterior normal en un alto porcentaje. Sin embargo habia una tendencia estadisticamente significativa hacia unos puntajes de desarrollo mas bajos a medida que aumentaba el tamano ventricular. Se concluye que muchos ninos con agrandamiento ventricular, no desarrollaran una hidrocefalia progresiva, pero si pueden tener dificultades en el desarrollo cognitivo y psicomotor.

Objective: To compare the injury risk between rear-facing (RFCS) and forward-facing (FFCS) car seats for children less than 2 years of age in the USA. Methods: Data were extracted from a US National Highway Traffic Safety Administration vehicle crash database for the years 1988–2003. Children 0–23 months of age restrained in an RFCS or FFCS when riding in passenger cars, sport utility vehicles, or light trucks were included in the study. Logistic regression models and restraint effectiveness calculations were used to compare the risk of injury between children restrained in RFCSs and FFCSs. Results: Children in FFCSs were significantly more likely to be seriously injured than children restrained in RFCSs in all crash types (OR = 1.76, 95% CI 1.40 to 2.20). When considering frontal crashes alone, children in FFCSs were more likely to be seriously injured (OR = 1.23), although this finding was not statistically significant (95% CI 0.95 to 1.59). In side crashes, however, children in FFCSs were much more likely to be injured (OR = 5.53, 95% CI 3.74 to 8.18). When 1 year olds were analyzed separately, these children were also more likely to be seriously injured when restrained in FFCSs (OR = 5.32, 95% CI 3.43 to 8.24). Effectiveness estimates for RFCSs (93%) were found to be 15% higher than those for FFCSs (78%). Conclusions: RFCSs are more effective than FFCSs in protecting restrained children aged 0–23 months. The same findings apply when 1 year olds are analyzed separately. Use of an RFCS, in accordance with restraint recommendations for child size and weight, is an excellent choice for optimum protection up to a child’s second birthday.

OBJECTIVE. The purpose of this work was to describe the epidemiology of nonfatal school bus–related injuries among children and teenagers aged ≤19 years in the United States. DESIGN/METHODS. Nationally representative data from the National Electronic Injury Surveillance System All-Injury Program operated by the US Consumer Product Safety Commission were analyzed. Case subjects included all of the patients in the National Electronic Injury Surveillance System All-Injury Program database who were treated in a hospital emergency department for a nonfatal school bus–related injury from 2001 to 2003. RESULTS. There were an estimated 51100 school bus–related injuries treated in US emergency departments from 2001 to 2003, for a national estimate of 17000 injuries (rate: 21.0 per 100000 population) annually. Ninety-seven percent of children were treated and released from the hospital. Children 10 to 14 years of age accounted for the greatest proportion of injuries (43.0%; rate: 34.7) compared with all other age groups. Motor vehicle crashes accounted for 42.3% of all injuries, followed by injuries that occurred as the child was boarding/alighting/approaching the bus (23.8%). Head injuries accounted for more than half (52.1%) of all injuries among children CONCLUSIONS. This is the first study to describe nonfatal school bus–related injuries to US children and teenagers treated in US hospital emergency departments using a national sample. This study identified a much greater annual number of school bus–related injuries to children than reported previously.

In order to establish effective suicide preventive programs, it is important to know the etiologic factors and causal relationships between suicide and behavior. Coroner data was analyzed for the 468 suicides that occurred in Indianapolis, Indiana during 1998-2001. The age-adjusted suicide rate was 14.08 per 100,000. Almost one-half of the victims had a mental illness and 26% had a history of alcohol/substance abuse. The leading risk factors for suicide were age, impaired health, psychosocial stressors, and access to firearms. This information can be used by health departments and mental health professionals to help reduce suicide.

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. (c) 2005 Wiley-Liss, Inc

Emergency medicine (EM) physicians need little convincing that injury prevention is a public health priority. Clinical experience alone creates a clear appreciation for the impact that injuries have on children and their families. The role of the EM physician is evolving from primary responsibility for the acute care of injuries to a more expanded prevention role including education, research and advocacy. Many emergency department (ED)-based injury prevention projects have been developed and individual EM physicians have emerged as leaders in the field of injury prevention. However, challenges remain. Development of effective interventions which can realistically be implemented in a busy ED are lacking. Expansion of the role of the emergency health care provider outside the hospital, in the community, has great potential for success. The goal of this paper is to discuss the current status of primary injury prevention within emergency medicine, barriers that exist and areas of opportunity.

To compare the injury risk between rear-facing (RFCS) and forward-facing (FFCS) car seats for children less than 2 years of age in the USA.Data were extracted from a US National Highway Traffic Safety Administration vehicle crash database for the years 1988-2003. Children 0-23 months of age restrained in an RFCS or FFCS when riding in passenger cars, sport utility vehicles, or light trucks were included in the study. Logistic regression models and restraint effectiveness calculations were used to compare the risk of injury between children restrained in RFCSs and FFCSs.Children in FFCSs were significantly more likely to be seriously injured than children restrained in RFCSs in all crash types (OR=1.76, 95% CI 1.40 to 2.20). When considering frontal crashes alone, children in FFCSs were more likely to be seriously injured (OR=1.23), although this finding was not statistically significant (95% CI 0.95 to 1.59). In side crashes, however, children in FFCSs were much more likely to be injured (OR=5.53, 95% CI 3.74 to 8.18). When 1 year olds were analyzed separately, these children were also more likely to be seriously injured when restrained in FFCSs (OR=5.32, 95% CI 3.43 to 8.24). Effectiveness estimates for RFCSs (93%) were found to be 15% higher than those for FFCSs (78%).RFCSs are more effective than FFCSs in protecting restrained children aged 0-23 months. The same findings apply when 1 year olds are analyzed separately. Use of an RFCS, in accordance with restraint recommendations for child size and weight, is an excellent choice for optimum protection up to a child's second birthday.

Although the annual number of farm deaths to children and adolescents has decreased since publication of the 1988 American Academy of Pediatrics statement, “Rural Injuries,” the rate of nonfatal farm injuries has increased. Approximately 100 unintentional injury deaths occur annually to children and adolescents on US farms, and an additional 22 000 injuries to children younger than 20 years occur on farms. Relatively few adolescents are employed on farms compared with other types of industry, yet the proportion of fatalities in agriculture is higher than that for any other type of adolescent employment. The high mortality and severe morbidity associated with farm injuries require continuing and improved injury-control strategies. This statement provides recommendations for pediatricians regarding patient and community education as well as public advocacy related to agricultural injury prevention in childhood and adolescence.

For many parents, the confusion about how best to restrain their children and the myriad of restraint types that are available can be a major source of frustration. Child safety seat inspectors and advocates whose full-time job is to educate parents, caregivers, and advocates find it challenging to stay current with developments and changes in child occupant protection. For pediatricians who work less frequently and less intensively with child safety seats, the challenge of staying current with information is monumental. However, understanding a few basic principles of child safety seat usage and knowing when and where to refer families for additional information can help pediatricians provide parents and caregivers with the information they need to effectively restrain their children in motor vehicles. Significant reduction of deaths of children in motor vehicle crashes, especially those involving children

Introduction: This research describes temperament characteristics of infants with Down syndrome who are 1 to 4 months old. In the literature children with Down syndrome have been stereotyped. It was hypothesized that temperament characteristics may be evident and unique in newborns with Down syndrome. Method: A standardized questionnaire, The Early Infancy Temperament Questionnaire, a cover letter, informed consent forms, and a brief explanation of the project were given to families with a newborn infant with Down syndrome. Thirty-two families with infants with Down syndrome completed the study. Results: Mean scores indicate that infants with Down syndrome are rated more active, less intense, more distractible, and have a tendency to demonstrate more approach behaviors compared with normally developing infants. Data suggest infants with Down syndrome have some unique characteristics but are more like their normally developing peers than different. Discussion: Integration and main-streaming of infants and children with Down syndrome emphasizes the need for nurse practitioners to appreciate the temperament characteristics of these infants.

We present the findings of 13 additional cases of the urorectal septum malformation (URSM) sequence, and review the literature. The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings. The sex ratio of the 13 new cases was 7 males to 6 females and from the literature 21 males and 28 females. In addition, 11 of the 13 new cases had anorectal atresia with 5 of the cases also having partial agenesis of the colon. Bilateral renal agenesis was present in 3 of the 13 cases, unilateral renal agenesis occurred in 6, and dysplastic kidneys were found in 10. The URSM sequence is a lethal condition with long-term survival reported in only 3 of a total of 62 literature and new cases. Recurrence of this condition has not been reported.

We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.

Patients with the RSH or Smith-Lemli-Optiz syndrome (SLOS) have an inborn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydrocholesterol. A treatment protocol consisting of administration of cholesterol +/- bile acids was initiated in an attempt to correct the biochemical abnormalities seen. Fourteen patients (8 female, 6 male: ages 2 months to 15 years) have now been treated for 6-15 months. Three patients received cholesterol alone, while 11 patients received cholesterol and one or more bile acids. Biochemical improvement in sterol levels and in the ratio of cholesterol to total sterols was noted in all patients. The most marked improvement was noted in patients presenting with initial cholesterol levels < 40 mg/dl. No toxicity was observed. Clinical improvement in growth and neurodevelopmental status was also observed.

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.

We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,-21/46,X,-21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed. 35 refs., 6 figs., 6 tabs.

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.

This study reviews trends, rear facing, top tether use, and seating position for children younger than 13y among motor vehicle passengers in Indiana. This is an observational, cross-sectional survey of drivers transporting children 15 years and younger and drivers collected at 25 convenience locations randomly selected in Indiana during summers 2005 through 2010. Observations were conducted by Certified Child Passenger Safety Technicians (CPST). As the driver completed a written survey collecting demographic data on the driver and children, the CPST recorded the 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 was analyzed for infants younger than twelve months, children in forward facing CSS, and children < 13y. Between 2005 and 2010, 514 infants (age < 12m) were observed in motor vehicles. On average 83.5% (SD 4.8%) of the infants were rear facing. The percent of infants rear facing was 75.5% during 2005 and rose to 88.9% during 2010. Of the 442 vehicles observed with a forward facing car seat, 58% (SD 16.5%) had the top tether attached. In our sample, more than 88.7% (SD 0.8%) children < 13y were seated in a rear seat vehicle position. Driver variables affecting occupant protection are discussed. 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 educational campaigns.

School systems are responsible for ensuring that children with special needs are safely transported on all forms of federally approved transportation provided by the school system, and a plan should be developed to provide the most current and proper support to children with special transportation requirements. This statement provides current guidelines for the protection of child passengers with specific health care needs, including those with a tracheostomy, those requiring use of car seats, or those transported in wheelchairs. Guidelines that apply to general school transportation should be followed, including the training of staff, provision of nurses or aides if needed, establishment of a written emergency evacuation plan, and a comprehensive infection control program. Research provides the basis for recommendations concerning occupant securement for children in wheelchairs and children with other special needs who are transported on a school bus. Pediatricians can help their patients by being aware of guidelines for restraint systems for children with special needs and by remaining informed of new resources. Pediatricians can also play an important role at the state and local level in the development of school bus specifications.

Absence of the kidneys and of the Mullerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Mullerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed. © Wiley-Liss, Inc.

Pediatric orthopaedic surgery clients may be unable to safely, comfortably, and affordably use child safety seats (car seats) for a variety of reasons. This article describes commercially available child safety seats suitable for transporting pediatric orthopaedic surgery clients. Discussed are those children with cerebral palsy, spina bifida, hip dislocations, arthrogryposis, scoliosis, and osteogenesis imperfecta.

Snowmobiles continue to pose a significant risk to children younger than 15 years and adolescents and young adults 15 through 24 years of age. Head injuries remain the leading cause of mortality and serious morbidity, arising largely from snowmobilers colliding, falling, or overturning during operation. Children also were injured while being towed in a variety of conveyances by snowmobiles. No uniform code of state laws governs the use of snowmobiles by children and youth. Because evidence is lacking to support the effectiveness of operator safety certification and because many children and adolescents do not have the required strength and skills to operate a snowmobile safely, the recreational operation of snowmobiles by persons younger than 16 years is not recommended. Snowmobiles should not be used to tow persons on a tube, tire, sled, or saucer. Furthermore, a graduated licensing program is advised for snowmobilers 16 years and older. Both active and passive snowmobile injury prevention strategies are suggested, as well as recommendations for manufacturers to make safer equipment for snowmobilers of all ages.

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.

OBJECTIVES. Special health care needs associated with behavioral conditions may influence a child's safety in motor vehicle crashes. The aim of this study was to describe and compare variation in restraint use, seating position, and injury risk in motor vehicle crashes among children with and without special health care needs likely to affect behavior. PATIENTS AND METHODS. This study uses data collected between December 1, 1998, and November 30, 2002, in a cross-sectional study of children RESULTS. Complete data were collected for 14654 children aged 4 to 15 years, representing 171633 children in crashes. Of these, 152 children were reported to have a special need likely to affect behavior, representing 1883 children. A greater proportion of children with special needs likely to affect behavior were appropriately restrained, particularly among children aged 4 to 8 years. Drivers of children with special needs likely to affect behavior were more often restrained and more often were the child passenger's parent. There were no differences in the rates of front-row seating. There was no significant association between the presence of a special need likely to affect behavior and risk of injury, after adjustment for child/driver characteristics and crash severity. CONCLUSIONS. Despite a greater proportion of children with special needs likely to affect behavior using proper vehicle restraint, their injury risk was similar to that of children without these special needs. Primary care pediatricians providing best practices for vehicle safety should consider the unique riding experience and risk of injury among children with special health care needs likely to affect behavior.

Objective Observe and report seat belt use among children transported in belt-positioning booster seats. Design We conducted a cross-sectional, observational survey of children transported in motor vehicles between 2006 and 2007. While drivers completed a survey reporting the child's age, weight and gender, and the driver's age, gender, race, income, education, and relationship to the child; a child passenger safety technician recorded vehicle seating location, restraint type, and use of the car safety seat harness or seat belt as appropriate for the child. Setting Twenty-five fast food restaurants and discount department stores throughout Indiana. Participants A convenience sample of drivers transporting children younger than 16 years. Main exposure Seat belt use among children transported in belt-positioning booster seats. Outcome measure Seat belt misuse. Results Overall, 1446 drivers participated, 2287 children were observed with 564 children in belt-positioning booster seats. At least one seat belt misuse was observed for 64.8% of the children transported. Common misuses were the shoulder belt being placed over the booster seat armrest (35.8%); shoulder belt not at mid-shoulder position (28.5%), seat belt was too loose (24.5%), and the shoulder belt was either behind the child's back (9.1%) or under their arm (10.0%). Conclusion There is a high frequency of seat belt misuses among children transported in booster seats. Advice to parents on appropriate car seat selection, and encouragement to parents to supervise seat belt use may decrease misuse.

Car safety seats and seat belts are known to be effective in reducing death and serious injury and all children deserve this protection for every trip in the car. Challenges exist, however, in providing that protection for many children who have medical problems that may be either short-term or longstanding. Physicians are an important resource for assuring that their patients have access to the best restraint devices that are appropriate for their medical and positioning needs. ABOUT THE AUTHOR Marilyn J. Bull, MD, is with Automotive Safety Program, Section of Developmental Pediatrics, Riley Hospital for Children, Indianapolis, Indiana. Address correspondence to: Marilyn J. Bull, MD, Section of Developmental Pediatrics, Riley Hospital for Children, 702 Barnhill Drive, Room 1601, Indianapolis, IN 46202; or e-mail mbull@iupui.edu. Dr. Bull has disclosed no relevant financial relationships. EDUCATIONAL OBJECTIVES Review basic principles healthcare professionals can employ to guide parents and patients in the selection and use of appropriate vehicle restraint devices. Determine the unique requirements of children with special healthcare needs, specifically low birth-weight infants and children with chronic medical conditions. Discuss modifications that can be added to standard child restraint systems to accommodate the needs of children with special healthcare needs.

Information learned during medical training changes frequently with advances in nearly every field of medicine. Now we are asked to learn new advice to give parents and caregivers of infants and young children regarding the safest way for them to ride in a car. Child fatalities and injuries in motor vehicles have been significantly reduced since initiation of occupant-protection measures in the 1970s.1 The combined efforts of the counseling of primary medical care providers, the education and research provided by the National Highway Traffic Safety Administration, the car safety seat manufacturers, and many research facilities, and the support of child passenger safety advocates across the country have been largely responsible for these results. Many challenges remain as we strive to continue to reduce the rates of injury to children on our nation's highways. It is critical to realize that, despite marked improvement in rates of restraint in all age groups, over half of children killed are improperly restrained or unrestrained. Our first priority must be to ensure that every child is restrained appropriately for his or her age and size for every trip in a car. Helping parents make the best decisions for selection and proper use of car safety seats and seat belts is very important. Continual evolution of knowledge, safety information, and changes in car safety seat designs make this task … Address correspondence to Marilyn J. Bull, MD, 4747 N Meridian St, Indianapolis, IN 46208. E-mail: mbull{at}iupui.edu