Journal articlePediatrics · March 19, 2026
OBJECTIVE: The California-based cerebral palsy (CP) growth charts, published in Pediatrics in 2011, demonstrated a link between Gross Motor Function Classification System (GMFCS)-stratified weight percentile (GWt%-ile) and mortality, but use has been limit ...
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Journal articleBirth Defects Res · October 2025
BACKGROUND: Spina bifida (SB), a common neural tube defects (NTDs), has a complex genetic architecture that remains incompletely understood. Although prior studies have identified rare, deleterious single nucleotide variants (SNVs) in SB, broader contribut ...
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Journal articleJ Child Neurol · August 2025
ObjectiveWe performed a systematic review of studies of mortality risk in spina bifida by race or ethnicity to determine if risks were relatively greater in Black or in Hispanic people with spina bifida than in White people in most studies.MethodsWe includ ...
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Journal articleAnn Clin Transl Neurol · April 2024
OBJECTIVE: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. METHODS: A multicenter, retrospective, ca ...
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Journal articleAm J Med Genet A · September 2023
Plasma ceramide levels (henceforth, "ceramides") are biomarkers of some diseases that are comorbidities of Down syndrome (DS). We sought to determine if comorbidities in DS were associated with ceramides, studying a convenience cohort of 35 study participa ...
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Journal articleTransl Psychiatry · August 8, 2023
Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with r ...
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Journal articleFront Neurol · 2022
OBJECTIVE: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. BACKGROUND: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regres ...
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Journal articleDev Med Child Neurol · November 2021
AIM: To compare the frequencies of neurosurgical procedures to treat comorbid conditions of myelomeningocele in patients who underwent fetal surgery versus postnatal surgery for closure of the placode. METHOD: By utilizing the National Spina Bifida Patient ...
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Journal articleStem Cells Transl Med · September 2021
Preclinical and early phase clinical studies suggest that an appropriately dosed umbilical cord blood (CB) infusion has the potential to help improve motor function in young children with cerebral palsy (CP). As many children with CP do not have their own ...
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Journal articleFront Neurol · 2021
Down syndrome disintegrative disorder (DSDD) is a condition of unknown etiology characterized by acute cognitive decline, catatonia, insomnia, and autistic features in individuals with Down syndrome. A prior report of four patients with DSDD suggested a po ...
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Journal articleDev Med Child Neurol · June 2020
AIM: To determine if genetic variation associated with decreased dopamine neurotransmission predicts a decrease in motor development in a convenience cohort study of infants born extremely-low-birthweight (ELBW). METHOD: Four hundred and ninety-eight infan ...
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Journal articleGenet Med · February 2020
PURPOSE: Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to ...
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Journal articleJ Pediatr Rehabil Med · 2020
PURPOSE: Neurogenic bowel dysfunction (NBD) is a common comorbidity of myelomeningocele (MMC), the most common and severe form of spina bifida. The National Spina Bifida Patient Registry (NSBPR) is a research collaboration between the CDC and Spina Bifida ...
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Journal articleDev Med Child Neurol · July 2019
Down syndrome disintegrative disorder (DSDD) is an increasingly identified condition characterized by cognitive decline, autistic characteristics, insomnia, catatonia, and psychosis in adolescents and young adults with Down syndrome. Previously we reported ...
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Journal articleStem Cells Transl Med · December 2017
Cerebral palsy (CP) is a condition affecting young children that causes lifelong disabilities. Umbilical cord blood cells improve motor function in experimental systems via paracrine signaling. After demonstrating safety, we conducted a phase II trial of a ...
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Journal articleClin Endocrinol (Oxf) · July 2016
OBJECTIVE: Leptin is an adipokine that regulates body weight and appetite. It is also an inflammatory cytokine that influences immune reactivity and autoimmunity. Leptin levels are increased in obesity and are higher in women than in men. We aimed to deter ...
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Journal articleNeuroimage · May 15, 2016
Iron is an essential micronutrient for healthy brain function and development. Because of the importance of iron in the brain, iron deficiency results in widespread and lasting effects on behavior and cognition. We measured iron in the basal ganglia of you ...
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Journal articleGenet Med · October 2015
PURPOSE: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. ...
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Journal articleJ Child Neurol · August 2015
Over a 10-year period in a Down syndrome Clinic, 11 children and adolescents were encountered with a history of new-onset (8) or worsening (3) autistic characteristics. Ten of the 11 (91%) had cognitive decline to a dementia-like state and 9 of the 11 (82% ...
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Journal articleNeuroimage Clin · 2013
Cerebral palsy (CP) is a heterogeneous group of non-progressive motor disorders caused by injury to the developing fetal or infant brain. Although the defining feature of CP is motor impairment, numerous other neurodevelopmental disabilities are associated ...
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Journal articleJ Pediatr · December 2010
OBJECTIVES: To determine the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) in a sample of children with Down syndrome (DS) and to evaluate the effect of macrocytosis on the diagnosis of ID/IDA in these children. STUDY DESIGN: Children ...
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Journal articleJ AAPOS · December 2010
BACKGROUND: Children with Down syndrome (DS) have an increased prevalence of ocular disorders, including amblyopia, strabismus, and refractive error. Health maintenance guidelines from the Down Syndrome Medical Interest Group recommend ophthalmologic exami ...
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Journal articleBMC Med · October 22, 2009
BACKGROUND: Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than ...
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Journal articleBirth Defects Res A Clin Mol Teratol · October 2008
BACKGROUND: Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifyi ...
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Journal articleBirth Defects Res A Clin Mol Teratol · June 2008
BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs. Prev ...
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Journal articleJ Spinal Cord Med · 2008
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BACKGROUND/OBJECTIVE: To test the hypothesis that apolipoprotein E (APOE) polymorphisms are associated with outcomes after spinal cord injury (SCI). METHODS: Retrospective cohort study, from rehabilitation admission to discharge. PARTICIPANTS: Convenience ...
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Journal articlePediatr Infect Dis J · December 2007
We compared outcomes in infants with methicillin-resistant and methicillin-sensitive Staphylococcus aureus bacteremia. Infants with methicillin-resistant S. aureus infection had a longer median duration of bacteremia (4.5 versus 1 day, P = 0.01), but no di ...
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Journal articlePsychiatr Genet · August 2007
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BACKGROUND: Several candidate gene studies support RELN as susceptibility gene for autism. Given the complex inheritance pattern of autism, it is expected that gene-gene interactions will exist. A logical starting point for examining potential gene-gene in ...
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Journal articleInt J Audiol · April 2007
The purpose of this paper is to determine if a relationship exists between APOE alleles and nonsyndromic, sensorineural hearing loss (SNHL) in adults. APOE genotype was determined on DNA obtained from a sample of 89 subjects with nonsyndromic, adult onset ...
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Journal articleJournal of Nutritional and Environmental Medicine · February 1, 2007
Purpose. Undernutrition is a prevalent and serious problem in children with cerebral palsy (CP) who have severe cognitive and motor impairment. Decision-making concerning the initiation of enteral (gastrostomy) feeding is complex, for many reasons. The Cas ...
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Journal articleEnviron Health Perspect · October 2006
BACKGROUND: Folate metabolism pathway genes have been examined for association with neural tube defects (NTDs) because folic acid supplementation reduces the risk of this debilitating birth defect. Most studies addressed these genes individually, often wit ...
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Journal articlePediatrics · September 2006
BACKGROUND: Children with cerebral palsy frequently grow poorly. The purpose of this study was to describe observed growth patterns and their relationship to health and social participation in a representative sample of children with moderate-severe cerebr ...
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Journal articleBirth Defects Res A Clin Mol Teratol · June 2006
BACKGROUND: Neural tube defects (NTDs) are considered complex, with both genetic and environmental factors implicated. To date, no major causative genes have been identified in humans despite several investigations. The first genomewide screen in NTDs demo ...
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Journal articlePediatr Rehabil · 2006
OBJECTIVES: To determine the prevalence of previous fracture, the rate of fracture over time and associated risk factors for fracture in children with moderate or severe cerebral palsy (CP). STUDY DESIGN: Three hundred and sixty-four children with moderate ...
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Journal articleJ Med Genet · December 2005
Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in human ...
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Journal articleBirth Defects Res A Clin Mol Teratol · November 2005
BACKGROUND: Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a ...
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Journal articleJ Pediatr · November 2005
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Serum prealbumin concentration (PALB) and albumin concentration (ALB) were evaluated as markers of undernutrition in 107 children with cerebral palsy (CP) age 2 to 18 years. PALB and ALB were rarely below the normal reference ranges and showed little to no ...
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Journal articleHum Genet · July 2005
Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been identified. Throughout development, cell adhesion molecu ...
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Journal articleDev Med Child Neurol · April 2005
Abnormalities of growth and development are prevalent in children with cerebral palsy (CP). The purpose of this study was to assess skeletal maturation ('bone age') in this population and to identify those factors related to alterations in this aspect of d ...
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Journal articleBirth Defects Res A Clin Mol Teratol · August 2004
BACKGROUND: Neural tube defects (NTDs) are the second most common birth defects, after congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere DNA, has been shown to be important for neural tube development and bilateral sym ...
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Journal articleAm J Med Genet A · July 1, 2004
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New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a co ...
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Journal articleAm J Med Genet B Neuropsychiatr Genet · February 15, 2004
Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus o ...
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Journal articleAmerican Journal of Medical Genetics Neuropsychiatric Genetics · February 15, 2004
Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus o ...
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Journal articleLaryngoscope · December 2003
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OBJECTIVE To present three cases of inspiratory stridor caused by laryngeal dystonia (LD) in children with cerebral palsy (CP), one of whom is being treated by periodic botulinum toxin type A (BTX) injection into a vocalis muscle, thereby avoiding tracheos ...
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Journal articleJ Pediatr · November 2002
OBJECTIVES: To describe nutritional status in a population-based sample of children with moderate or severe cerebral palsy (CP) and to explore the relationships between nutritional status and health and functional outcomes. STUDY DESIGN: A population-based ...
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Journal articlePediatrics · November 2002
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OBJECTIVES: To compare the development of secondary sexual characteristics in children with cerebral palsy (CP) of moderate to severe motor impairment to children in the general population and to relate their sexual maturation to a measure of their body fa ...
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Journal articlePediatrics · July 2002
OBJECTIVES: Diminished bone density and a propensity to fracture with minimal trauma are common in children and adolescents with moderate to severe cerebral palsy (CP). The purpose of this study was to provide a detailed evaluation of bone mineral density ...
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Journal articleAm J Med Genet · July 1, 2002
We investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of this l ...
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Journal articleJ Am Diet Assoc · March 2002
OBJECTIVE: To describe parent-reported feeding dysfunction and its association with health and nutritional status in children with cerebral palsy. DESIGN: Anthropometry was measured and z scores calculated. The Child Health Questionnaire was used to assess ...
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Journal articleJ Pediatr Surg · September 2001
BACKGROUND/PURPOSE: Diagnosis and management of the acute abdomen in patients with spina bifida (SB) can be problematic. There are at least 4 clinical factors that can predispose to the development of acute abdominal symptoms and signs, and patients with a ...
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Journal articleDev Med Child Neurol · June 2001
The aim of the study was to evaluate the health of children with cerebral palsy (CP) using a global assessment of quality of life, condition-specific measures, and assessments of health care use. A multicenter population-based cross-sectional survey of 235 ...
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Journal articleClin Pediatr (Phila) · May 2001
Ninety-three individuals with Down syndrome (DS) were screened to investigate the prevalence of celiac disease (CD) in the United States. Five of the 93 individuals were antiendomysial antibody (EMA) positive. Of the 5 who tested positive for EMA, 4 were b ...
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Journal articleJ Pediatr Orthop · 2001
Traumatic atlanto-occipital dislocation (AOD) has been thought to be a rare and fatal injury. Recently, more survivors, especially children, have been reported. During a 10-year period, the authors have encountered five children with traumatic AOD. A retro ...
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Journal articlePediatr Neurosurg · January 2000
Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along ...
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Journal articleClin Genet · August 1999
Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heter ...
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Journal articleClin Pediatr (Phila) · June 1998
Hypophosphatemia in malnourished children during nutritional recovery (refeeding hypophosphatemia) is recognized as a cause of morbidity and mortality in adolescents with anorexia nervosa but has been only rarely reported to occur in younger children with ...
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Journal articleNeurogenetics · September 1997
Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasian patients with lumbosacral NTD and t ...
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Journal articleDev Med Child Neurol · September 1996
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Over a nine-year period, 63 viable newborns with myelomeningocele were consecutively treated, of whom 11 (17%) developed brainstem symptoms assessed to be potentially life-threatening. All 11 underwent brainstem decompression by cervical laminectomy with s ...
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Journal articleDev Med Child Neurol · September 1996
In a study of sexual function and erection capability, 15 young men with spina bifida were interviewed, underwent physical examination, and completed two consecutive night recordings of penile tumescence and rigidity with the Rigi-Scan (Dacomed Inc.). Elev ...
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Journal articleDev Med Child Neurol · March 1996
Sensorineural hearing loss has long been known to be a clinical consequence of kernicterus. Brainstem auditory evoked potentials (BAEPs) that occur in hyperbilirubinemic infants, can be reversed in the neonatal period by exchange transfusion. The case was ...
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Journal articleDev Med Child Neurol · March 1995
Twenty-two previously normal children and adolescents who suffered a severe, non-penetrating traumatic brain injury had PET during rehabilitation at a median of 1.5 months after the injury. Outcome was assessed at a median of 25 months after brain injury. ...
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Journal articleDev Med Child Neurol · August 1994
Thirty-seven infants with myelomeningocele received brainstem auditory evoked potentials (BAEPs) at a median age of eight days. No infant had brainstem dysfunction at the time of testing. Median follow-up was at 30 months. Of 12 infants who subsequently de ...
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Journal articleJournal of Developmental and Behavioral Pediatrics · January 1, 1993
This section provides brief reviews of articles from many journals that relate to the interests of individuals seeking information on research and teaching in Developmental and Behavioral Pediatrics. The reviews will not provide critical comments, but the ...
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Journal articleUrology · March 1992
The records of 181 patients with myelodysplasia were reviewed. The prevalence of associated genitourinary anomalies as well as cardiac, facial, anal, and tethered cord were determined. The prevalence of congenital malformations associated with myelodysplas ...
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Journal articleJournal of Developmental and Behavioral Pediatrics · January 1, 1992
This section provides brief reviews of articles from many journals that relate to the interests of individuals seeking information on research and teaching in Developmental and Behavioral Pediatrics. The reviews will not provide critical comments, but the ...
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Journal articleDev Med Child Neurol · August 1991
A program to teach financial management skills to parents of children with chronic illnesses and disabilities was developed. To test the effectiveness of this program, a randomized, controlled prospective study was conducted of 115 families of children wit ...
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Journal articleAm J Dis Child · November 1988
Seven children with illnesses diagnosed as hysterical conversion reactions (HCRs) were treated at our institution over a period of nine months. They all had neurological symptoms that included one or more of the following: paralysis, headache, seizures, an ...
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Journal articlePediatrics · July 1985
Immunocytochemical study of human brain showed creatine kinase brain isoenzyme (CKBB) present in both neurons and astrocytes. Because creatine kinase brain isoenzyme is an intracellular enzyme that might be released with brain injury, its concentration in ...
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Journal articleJ Infect Dis · April 1984
To determine epidemiological and clinical associations with Toxocara canis seropositivity, we studied 333 (87%) children of a cohort of 383 five- to seven-year-olds. The prevalence of seropositivity (antibody titer to T canis, greater than or equal to 1:32 ...
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