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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.

* 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

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 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.

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.

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.

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

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.

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.

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.

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.

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.

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

We report on 2 patients with de novo deletions of 2q and chromosome constitutions of 46, XY,del(2)(q32.3q33.3) and 46,XX,del(2) (q21q23.2), respectively. Comparisons of breakpoints of interstitial deletions show frequent correspondence to common fragile sites.

BACKGROUND Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. CCD is caused by mutations in the transcription factor RUNX2, which is known to function as a major regulator of bone differentiation. Despite the characterization of 67 unique mutations in 97 individual cases, and the availability of animal models, no obvious genotype-phenotype correlation has emerged. METHODS We describe 3 new cases that were ascertained on the basis of a severe calvarial phenotype, that were associated with 3 novel mutations in the C-terminal region of RUNX2 distal to the DNA-binding runt domain. In addition, a review of all previously described cases was undertaken in an effort to standardize mutation nomenclature, characterize the position of known mutations relative to the runt domain, and explore the hypothesis that C-terminal mutations that preserve the runt domain may lead to more-severe craniofacial phenotypes. RESULTS Upon mutational analysis of RUNX2, we identified either frameshift or splice-site mutations that affect the C-terminal region of the resultant protein distal to the runt domain. CONCLUSIONS In the context of previously described mutations, these cases suggest that C-terminal mutations that preserve the DNA-binding runt domain while disrupting the SMAD 1,2,3,5 binding domain and the nuclear matrix targeting signal may be responsible for the severe phenotype observed. Birth Defects Research (Part A) Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc.

An estimated 8500 individuals, approximately 45% of them children younger than 15 years, were treated in US hospital emergency departments during 1999 for fireworks-related injuries. The hands (40%), eyes (20%), and head and face (20%) are the body areas most often involved. Approximately one third of eye injuries from fireworks result in permanent blindness. During 1999, 16 people died as a result of injuries associated with fireworks. Every type of legally available consumer (so-called “safe and sane”) firework has been associated with serious injury or death. In 1997, 20 100 fires were caused by fireworks, resulting in $22.7 million in direct property damage. Fireworks typically cause more fires in the United States on the Fourth of July than all other causes of fire combined on that day. Pediatricians should educate parents, children, community leaders, and others about the dangers of fireworks. Fireworks for individual private use should be banned. Children and their families should be encouraged to enjoy fireworks at public fireworks displays conducted by professionals rather than purchase fireworks for home or private use.

Objective To compare two feeding methods advocated for infants with cleft palate: (a) a squeezable plastic container with a narrow, long crosscut nipple (squeezable cleft palate nurser); and (b) a standard nipple with a crosscut (crosscut nipple). The effectiveness of a nutrition intervention protocol for these infants was also documented. Design Thirty-one infants (median age=15 days) were randomized to one of two feeding methods (18 infants, squeezable cleft lip/palate nurser; 13 infants, crosscut nipple) within sex (21 boys, 10 girls) and palatal defect (22 cleft lip and palate, 9 isolated cleft palate) categories. The intervention included feeding technique instructions, nutrition counseling at each clinic visit, use of the same 20 kcal/oz standard formula for 12 months, and introduction of infant and soft table foods at 6 months. Four-day food records and growth data were obtained. Main outcome measures Mean energy and protein intakes at 3 and 6 months of age and growth measurements during the first 18 months of life were obtained. Statistical analyses A repeated measures analysis of variance for intakes was performed with time as the repeated measure and feeding method as the covariable. Similar analyses were completed for growth measures with sex and feeding method as covariates. Results Mean energy intake at 3 and 6 months of age ( P = .24) and growth measurements during the first 18 months of life ( P values: weight gain [grams per day], 73; weight, .21; length, .07; head circumference, .18; triceps and subscapular skinfolds and mid-arm circumference, .47, .48, and .69, respectively) were not significantly different. Both feeding methods were effective in supporting normal growth. Applications With adequate instruction related to the use of either feeding technique and close nutrition follow-up early in infancy, a dietitian or other health care practitioner may advise the use of either feeding method. These data support the need for feeding and nutrition education and early nutrition intervention.

Objective: To determine what child restraints would accommodate infants with Pierre Robin sequence who often require special attention in motor vehicle travel since microagnathia usually requires a prone position to keep the infant's airway open. Research Design: Dynamic testing and clinical trial. Setting: An Indiana children's hospital providing primary and tertiary care. Patients: Four patients with Pierre Robin sequence are described to illustrate use of the modified infant car seat and the appropriateness of the car bed restraints for meeting requirements for prone positioning during travel. Selection Procedures: Convenience sample. Interventions: Selected restraints were loaned to families through a clinical setting until the patient was able to use a conventional child restraint. Measurements and Results: Three child restraint systems were determined to accommodate the prone position necessary to keep the airway open for children with Pierre Robin sequence. Dynamic crash testing demonstrated the crashworthiness of an infant car seat modified to allow for prone positioning. Through a clinical trial, two car bed restraints were also found to provide safe prone positioning of infants. Conclusions: To enable safe transportation for infants with Pierre Robin sequence, health care providers can direct parents to appropriate resources for travel and can monitor the airway and oxygenation of the infant with Pierre Robin sequence before hospital discharge. (Arch Pediatr Adolesc Med. 1994;148:301-305)

To the Editor — The YMCA of the USA is a national organization promoting “programs that build healthy spirit, mind, and body, for all.” Some of our most popular programs promote aquatic and water safety experiences for persons across their lifespan. As a result, we feel compelled to comment on the American Academy of Pediatrics (AAP) policy statement published in the April 2000 issue of Pediatrics. 1 Local YMCAs throughout the United States offer the YMCA of the USA Swim Lessons Preschool program for children beginning at the age of 3. What 3-years-olds learn in these programs is centered on aquatic readiness skills that are developmentally suited to their age and individual ability. Working in small groups under the supervision of well-trained instructors (as well as their parents), 3-years-olds are able to learn: Although we cannot agree with the AAP recommendation that “children are generally not developmentally ready for formal swimming lessons until after their fourth birthday,” the YMCA of the USA substantially agrees with and supports the major points made in the AAP’s policy statement. Further, we feel that it is important to note several inconsistent conclusions drawn by the AAP policy statement. In particular, the YMCA would like to challenge keystone conclusions drawn by the policy statement that our research reveals lack sufficient factual support, starting with the minimum age recommendation. Rationale: …

Gastroesophageal abnormalities occur with increased frequency in patients with Brachmann-de Lange syndrome (BDLS) and contribute to problems with feeding, emesis and failure to thrive. Comprehensive evaluation including longitudinal assessment of growth and development of 8 patients with BDLS was performed. Clinically significant feeding problems occurred in 6 of the 8 patients and the affected children were subsequently evaluated for gastrointestinal abnormalities. Findings in these patients included tracheal aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, and esophagitis. Medical treatment was instituted where appropriate, and surgical treatment was performed if the problems did not resolve with medical treatment. Improvement in weight centiles occurred in all patients fed by nasogastric or feeding gastrostomy tube but only one patients appeared to experience increase in rate linear growth. Careful monitoring of symptoms and growth parameters, and prompt institution of appropriate medical and surgical measures can improve the health and physical outcome of many patients with BDLS. © 1993 Wiley-Liss, Inc.

Although many students with disabilities are transported daily in school vehicles, few state guidelines address special transportation needs. This study collected information from two states on the types of vehicles and safety restraints used, and the problems encountered by public schools, community agencies, and rehabilitation centers that transport people with disabilities from birth to 21 years of age. The information collected, together with a review of research on special needs transportation, contributed toward development of state regulations for school buses used to transport special education students. Vehicular transportation safety is an important part of individualized education planning for the 18.6% of occupational therapists working in schools. Using this study’s questionnaires occupational therapists who are primary resources for selection of seating and transportation equipment may become informed advocates for implementing safer transportation on an individual and state level for clients with disabilities.

Growth outcome for 1 year of corrected age and feeding practices during that first year of life were described for a large population of very low birth weight (VLBW) infants. Growth patterns of weight, length, and occipitofrontal circumference through 12 months of corrected age, and weight/length ratios at 12 months, were determined for 122 VLBW infants less than or equal to 1500 gm and less than or equal to 35 weeks of gestational age at birth; feeding practices were surveyed within a subpopulation of 89 infants. Differences in growth were apparent when infants were grouped according to sex and appropriateness of intrauterine growth. When the mean values of each group were compared, the female infants of appropriate size for gestational age demonstrated growth at higher percentiles (National Center for Health Statistics term-infant norms) for all three measurements (weight, length, and occipitofrontal circumference). Male infants whose size was appropriate for gestational age, and male and female infants who were small for gestational age, all grew similarly, at lower percentiles for weight and length, when compared with the same norms. Growth in occipitofrontal circumference was closest to term infant norms in all subgroups of infants. The majority of the infants, regardless of subgroup, achieved weights and lengths greater than 5th percentile and proportionate growth with a normal weight/length ratio. At 12 months of corrected age, 30% remained at less than 5th percentile in weight, 21% in length, and 14% in occipitofrontal circumference. Eighteen infants (15%) had a marked discrepancy in weight for length, with a weight/length ratio less than 5th percentile. Three prevalent practices that could result in compromised nutrition were identified: (1) cereals were introduced at an early age, (2) 2% and skim cow milk were fed to approximately 50% of the infants within the first year of life, and (3) whole cow milk was introduced to some VLBW infants at an early age. Caretakers apparently viewed their infants in terms of chronologic age rather than age corrected for prematurity when it came to the initiation of solids and cow milk. Whether increased attention to appropriate feeding practices during the first year of life would result in a more favorable growth outcome for VLBW infants is not known.

Twenty-four children with cutaneous hemangiomas were treated with corticosteroids. The indications for therapy included interference with im portant bodily functions by the hemangioma, thrornbocytogenia related to the hemangioma, or serious cosmetic effects secondary to the hemangioma. Five children had no improvement, twelve had possible improvement, five had probable improvement and two had definite improvement while on cortico steroids. One child had growth retardation as a complication of corticosteroids; this was reversed when the medication was discontinued.

Few guidelines are available on providing safe transportation for children who cannot use conventional auto restraints. This article discusses the misuse of restraints and reviews several modified car seats and other restraints that have been tested and that meet safety standards.

Three infants are reported with a recognizable pattern of defects consisting of severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. This condition, which we think represents microhydranencephaly, appears to be produced by partial brain destruction during the second or third trimester, diminution in intracranial hydrostatic pressure, and subsequent collapse of the fetal skull. Several different causes for this condition have been suggested including partial disruption of the blood supply to the brain and prenatal viral infection.

Misuse of car seats is widespread, and the pediatric nurse can help correct improper use by asking parents purposeful and specific questions that provide information on installation and positioning of child restraints. Common car seat misuses that can be revealed and corrected to prevent possible injuries or fatalities in children include misrouting the seat belt through the car seat frame; not using a seat belt; not using or improperly using all the car seat's required parts such as a shield, an internal harness, or a top tether; and positioning the car seat facing forward rather than facing the rear for a small infant.

Prospective screening of an extremely high risk group of 137 infants cared for in the Newborn Intensive Care Unit of the James Whitcomb Riley Hospital for Children was undertaken during 1983. Auditory brain stem responses (ABR) were obtained utilizing a clinical evoked potential system (Madsen 2250). Patients were selected for screening prior to discharge or transfer to the referring hospital on the basis of one or more of the following criteria: birth weight less than 1250 grams; birth weight less than 1500 grams and ventilatory support; significant depression at birth (Apgars less than 3 and 6 at 1 and 5 minutes, respectively); seizures, meningitis, and/or sepsis. Of the original 137 infants tested, 82 passed the initial ABR, 22 conditionally passed, and 34 failed. Eighty-two infants had follow-up behavioral and audiometric testing while 20 infants died and 35 were lost to follow-up. Four infants had severe sensorineural hearing loss, each of whom had failed the initial ABR. None of the infants who initially passed or conditionally passed the ABR had sensorineural hearing loss on follow-up testing. High risk factors for sensorineural hearing loss in the neonatal period included: intraventricular/periventricular hemorrhage, apnea, family history, major malformations of the head and neck, and possibly hyperbilirubinemia and congenital infection. No relationship of sensorineural hearing loss with very low birth weight, hyponatremia, infection, seizures, or medications was found. On the basis of these data, it is suggested that electrophysiologic hearing screening of a high risk population may be delayed until 3 to 6 months of age to improve specificity of testing.