A Road Map for Academic Developmental-Behavioral Pediatric Practices to Increase Access.

There are currently at least 19 million children and adolescents in the United States with disorders of development (learning disorders, attention-deficit/hyperactivity disorder, intellectual disabilities, autism, motor incoordination/cerebral palsy, etc.) and only approximately 800 board-certified developmental-behavioral pediatricians (DBPs) practicing nationally. Given the astronomical mismatch between the number of children and adolescents with developmental disorders and the number of board-certified DBPs, developmental-behavioral pediatric consultations are likely the most inaccessible in all of medicine.

Incidence of Celiac Disease in Down Syndrome: A Longitudinal, Population-Based Birth Cohort Study.

American Academy of Pediatrics (AAP) guidelines for children with Down syndrome (DS) include assessment for celiac disease (CD), although data to support this recommendation have been inconsistent. We determined the incidence of CD among children with DS in a population-based birth cohort of children born from 1976 to 2000 in Olmsted County, Minnesota. Individuals with karyotype-confirmed DS and CD (using diagnosis codes, positive serology, and duodenal biopsies) were identified.

Early postnatal bladder function in fetoscopic myelomeningocele repair patients.

Purpose: Prenatal repair of myelomeningocele (MMC) via hysterotomy has demonstrated neurosurgical and motor benefits, when compared to postnatal repairs. Urologic benefits, however, remain to be seen. The purpose of this study was to review early postnatal bladder function in patients undergoing a novel endoscopic approach for MMC repair using an exteriorized uterus.

Urologic self-management through intermittent self-catheterization among individuals with spina bifida: A journey to self-efficacy and autonomy.

Purpose: To describe the age of independence in intermittent self-catheterization (ISC) in a diverse patient population and identify factors associated with ISC in individuals with spina bifida.

Methods: Two hundred patients with myelomeningocele or lipomyelomeningocele, who were ⩾ 3 years of age and utilized catheterization for bladder management were included. Data regarding diagnosis, functional level of lesion, race, ethnicity, presence of shunt, method of catheterization, self-management skills, fine motor skills, and cognitive abilities were collected.

Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.

Background: A common and severe neural tube defect (NTD) phenotype, myelomeningocele (MM), results from the defective closure of the caudal end of the neural tube with herniation of the spinal cord and meninges through the vertebral column. The exact mechanisms for NTDs are unknown, but excessive oxidative stress, particularly in association with maternal diabetes, has been postulated as a mechanism for MM.

Methods: The SNPlex Genotyping (ABI, Foster City, CA) platform was used to investigate single nucleotide polymorphisms (SNPs) across the superoxide dismutase (SOD) 1 and 2 genes to assess their association with MM risk.

Association of retinoic acid receptor genes with meningomyelocele.

Background: Neural tube defects (NTDs) occur in as many as 0.5-2 per 1000 live births in the United States. One of the most common and severe neural tube defects is meningomyelocele (MM) resulting from failed closure of the caudal end of the neural tube.

Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.

Background: Meningomyelocele (MM) results from lack of closure of the neural tube during embryologic development. Periconceptional folic acid supplementation is a modifier of MM risk in humans, leading toan interest in the folate transport genes as potential candidates for association to MM.

Methods: This study used the SNPlex Genotyping (ABI, Foster City, CA) platform to genotype 20 single polymorphic variants across the folate receptor genes (FOLR1, FOLR2, FOLR3) and the folate carrier gene (SLC19A1) to assess their association to MM.

Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.

Background: Meningomyelocele (MM) is a common human birth defect. MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the NTD and lead to a spectrum of physical and neurocognitive phenotypes.

Methods: A multidisciplinary approach has been taken to develop a comprehensive understanding of MM through collaborative efforts from investigators specializing in genetics, development, brain imaging, and neurocognitive outcome.

Neurobehavioral outcomes in spina bifida: Processes versus outcomes.

We review neurobehavioral outcomes and interventions for children with spina bifida. Focusing on children with spina bifida myelomeningocele, we contrast historical views of outcomes based on comparisons across content domains (e.g.