Scholars@Duke
Gordon Worley

Gordon Worley

Professor Emeritus of Pediatrics
Pediatrics, Neurology
worle001@mc.duke.edu
408 Deming Road, Chapel Hill, NC 27514
408 Deming Road, Chapel Hill, NC 27514
Office hours Tuesdays usually  
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Selected Publications

Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.

Journal Article Ann 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 ... Full text Link to item Cite

An exploratory study of plasma ceramides in comorbidities in Down syndrome.

Journal Article Am 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 ... Full text Link to item Cite

Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.

Journal Article Transl 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 ... Full text Link to item Cite

Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.

Journal Article Front 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 ... Full text Link to item Cite

Neurosurgical procedures for children with myelomeningocele after fetal or postnatal surgery: a comparative effectiveness study.

Journal Article Dev 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 ... Full text Link to item Cite

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.

Journal Article Stem 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 ... Full text Open Access Link to item Cite

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder.

Journal Article Front 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 ... Full text Link to item Cite

Genetic variation in dopamine neurotransmission and motor development of infants born extremely-low-birthweight.

Journal Article Dev 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 ... Full text Link to item Cite

Response to Zhang et al.

Journal Article Genet Med · March 2020 Full text Link to item Cite

Detection of iron deficiency in children with Down syndrome.

Journal Article Genet 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 ... Full text Link to item Cite

Neurogenic bowel treatments and continence outcomes in children and adults with myelomeningocele.

Journal Article J 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 ... Full text Link to item Cite

Immunotherapy in selected patients with Down syndrome disintegrative disorder.

Journal Article Dev 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 ... Full text Link to item Cite

Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.

Journal Article Stem 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 ... Full text Open Access Link to item Cite

Increased leptin levels correlate with thyroid autoantibodies in nonobese males.

Journal Article Clin 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 ... Full text Open Access Link to item Cite

Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.

Journal Article Ann 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 ... Full text Link to item Cite

An exploratory study of plasma ceramides in comorbidities in Down syndrome.

Journal Article Am 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 ... Full text Link to item Cite

Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.

Journal Article Transl 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 ... Full text Link to item Cite

Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.

Journal Article Front 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 ... Full text Link to item Cite

Neurosurgical procedures for children with myelomeningocele after fetal or postnatal surgery: a comparative effectiveness study.

Journal Article Dev 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 ... Full text Link to item Cite

Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.

Journal Article Stem 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 ... Full text Open Access Link to item Cite

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder.

Journal Article Front 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 ... Full text Link to item Cite

Genetic variation in dopamine neurotransmission and motor development of infants born extremely-low-birthweight.

Journal Article Dev 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 ... Full text Link to item Cite

Response to Zhang et al.

Journal Article Genet Med · March 2020 Full text Link to item Cite

Detection of iron deficiency in children with Down syndrome.

Journal Article Genet 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 ... Full text Link to item Cite

Neurogenic bowel treatments and continence outcomes in children and adults with myelomeningocele.

Journal Article J 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 ... Full text Link to item Cite

Immunotherapy in selected patients with Down syndrome disintegrative disorder.

Journal Article Dev 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 ... Full text Link to item Cite

Effect of Autologous Cord Blood Infusion on Motor Function and Brain Connectivity in Young Children with Cerebral Palsy: A Randomized, Placebo-Controlled Trial.

Journal Article Stem 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 ... Full text Open Access Link to item Cite

Increased leptin levels correlate with thyroid autoantibodies in nonobese males.

Journal Article Clin 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 ... Full text Open Access Link to item Cite

Magnetic susceptibility of brain iron is associated with childhood spatial IQ.

Journal Article Neuroimage · 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 ... Full text Link to item Cite

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Journal Article Genet 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. ... Full text Link to item Cite

Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome.

Journal Article J 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% ... Full text Link to item Cite

Diffuse reduction of white matter connectivity in cerebral palsy with specific vulnerability of long range fiber tracts.

Journal Article Neuroimage 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 ... Full text Open Access Link to item Cite

Prevalence of iron deficiency in children with Down syndrome.

Journal Article J 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 ... Full text Link to item Cite

The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.

Journal Article J 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 ... Full text Link to item Cite

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Journal Article BMC 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 ... Full text Link to item Cite

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

Journal Article Birth 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 ... Full text Link to item Cite

Refinement of 2q and 7p loci in a large multiplex NTD family.

Journal Article Birth 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 ... Full text Link to item Cite

Apolipoprotein E epsilon4 allele and outcomes of traumatic spinal cord injury.

Journal Article J Spinal Cord Med · 2008 Featured Publication 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 ... Full text Link to item Cite

Mortality and neurodevelopmental outcome after Staphylococcus aureus bacteremia in infants.

Journal Article Pediatr 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 ... Full text Link to item Cite

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.

Journal Article Psychiatr Genet · August 2007 Featured Publication 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 ... Full text Link to item Cite

Apolipoprotein E alleles and sensorineural hearing loss.

Journal Article Int 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 ... Full text Link to item Cite

Castang and Novartis Foundation Conference on Undernutrition in Children with Cerebral Palsy: Survey of participants about decision-making for enteral (gastrostomy) feeding

Journal Article Journal 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 ... Full text Cite

Mycobacterium avium-complex: A rare cutaneous presentation

Journal Article JOURNAL OF CUTANEOUS PATHOLOGY · January 1, 2007 Link to item Cite

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

Journal Article Environ 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 ... Full text Link to item Cite

Growth and health in children with moderate-to-severe cerebral palsy.

Journal Article Pediatrics · 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 ... Full text Link to item Cite

Current perspectives on Down syndrome: selected medical and social issues.

Journal Article Am J Med Genet C Semin Med Genet · August 15, 2006 Full text Link to item Cite

High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35.

Journal Article Birth 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 ... Full text Link to item Cite

Fracture rate in children with cerebral palsy.

Journal Article Pediatr 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 ... Full text Link to item Cite

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Journal Article J 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 ... Full text Link to item Cite

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.

Journal Article Birth 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 ... Full text Link to item Cite

Serum prealbumin and albumin concentrations do not reflect nutritional state in children with cerebral palsy.

Journal Article J Pediatr · November 2005 Featured Publication 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 ... Full text Link to item Cite

Apolipoprotein E polymorphism and spinal cord injury outcomes

Conference JOURNAL OF NEUROTRAUMA · October 1, 2005 Link to item Cite

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.

Journal Article Hum 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 ... Full text Link to item Cite

Altered skeletal maturation in moderate to severe cerebral palsy.

Journal Article Dev 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 ... Full text Link to item Cite

TERC is not a major gene in human neural tube defects.

Journal Article Birth 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 ... Full text Link to item Cite

New onset focal weakness in children with Down syndrome.

Journal Article Am J Med Genet A · July 1, 2004 Featured Publication 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 ... Full text Link to item Cite

No association between the APOE gene and autism.

Journal Article Am 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 ... Full text Link to item Cite

No Association between the APOE Gene and Autism

Journal Article American 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 ... Cite

Hypothyroidism in Down Syndrome: Screening Guidelines and Testing Methodology [4]

Journal Article American Journal of Medical Genetics · February 1, 2004 Cite

Laryngeal dystonia causing inspiratory stridor in children with cerebral palsy.

Journal Article Laryngoscope · December 2003 Featured Publication 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 ... Full text Link to item Cite

A new look at meningomyeloceles.

Journal Article Pediatrics · June 2003 Full text Link to item Cite

Relationship of nutritional status to health and societal participation in children with cerebral palsy.

Journal Article J 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 ... Full text Link to item Cite

Secondary sexual characteristics in children with cerebral palsy and moderate to severe motor impairment: a cross-sectional survey.

Journal Article Pediatrics · November 2002 Featured Publication 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 ... Full text Link to item Cite

No association between the APOE gene and autistic disorder.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Hypothyroidism in house officers.

Journal Article Lancet · September 14, 2002 Full text Link to item Cite

Bone density and metabolism in children and adolescents with moderate to severe cerebral palsy.

Journal Article Pediatrics · 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 ... Full text Link to item Cite

T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.

Journal Article Am 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 ... Full text Link to item Cite

Feeding dysfunction is associated with poor growth and health status in children with cerebral palsy.

Journal Article J 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 ... Full text Link to item Cite

No evidence for involvement of PPARG in neural tube defect families.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2001 Link to item Cite

Acute abdominal symptoms and signs in children and young adults with spina bifida: ten years' experience.

Journal Article J 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 ... Full text Link to item Cite

Health status of children with moderate to severe cerebral palsy.

Journal Article Dev 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 ... Full text Link to item Cite

Frequency of celiac disease in individuals with Down syndrome in the United States.

Journal Article Clin 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 ... Full text Link to item Cite

Pediatric traumatic atlanto-occipital dislocation: five cases and a review.

Journal Article J 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 ... Link to item Cite

Genetic studies in neural tube defects. NTD Collaborative Group.

Journal Article Pediatr 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 ... Full text Link to item Cite

Frequency of celiac disease in Down syndrome in the United States.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1999 Link to item Cite

Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.

Journal Article Clin 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 ... Full text Link to item Cite

Hypophosphatemia in malnourished children during refeeding.

Journal Article Clin 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 ... Full text Link to item Cite

Investigations of candidate genes for neural tube defects implicated from mouse models.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1997 Link to item Cite

The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group.

Journal Article Neurogenetics · 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 ... Full text Link to item Cite

Survival at 5 years of a cohort of newborn infants with myelomeningocele.

Journal Article Dev Med Child Neurol · September 1996 Featured Publication 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 ... Full text Link to item Cite

Sexual function and erection capability among young men with spina bifida.

Journal Article Dev 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 ... Full text Link to item Cite

Delayed development of sensorineural hearing loss after neonatal hyperbilirubinemia: a case report with brain magnetic resonance imaging.

Journal Article Dev 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 ... Full text Link to item Cite

18-Fluorodeoxyglucose positron emission tomography in children and adolescents with traumatic brain injury.

Journal Article Dev 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. ... Full text Link to item Cite

BAEPs in infants with myelomeningocele and later development of Chiari II malformation-related brainstem dysfunction.

Journal Article Dev 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 ... Full text Link to item Cite

Book Reviews

Journal Article Journal 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 ... Full text Cite

Anomalies associated with myelodysplasia.

Journal Article Urology · 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 ... Full text Link to item Cite

Journal article reviews

Journal Article Journal 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 ... Full text Cite

Financial counseling for families of children with chronic disabilities.

Journal Article Dev 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 ... Full text Link to item Cite

Journal article reviews

Journal Article Journal of Developmental and Behavioral Pediatrics · January 1, 1991 Full text Cite

Journal article reviews

Journal Article Journal of Developmental and Behavioral Pediatrics · January 1, 1991 Full text Cite

Hysterical conversion reactions mimicking neurological disease.

Journal Article Am 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 ... Full text Link to item Cite

HEAD SHAPE AND MIDDLE-EAR EFFUSION IN CHILDREN

Conference AMERICAN JOURNAL OF DISEASES OF CHILDREN · April 1, 1987 Link to item Cite

BRAIN-STEM AUDITORY EVOKED-POTENTIALS IN CHILDREN WITH MYELOMENINGOCELE AND ARNOLD-CHIARI MALFORMATION

Conference ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY · August 1, 1986 Link to item Cite

Creatine kinase brain isoenzyme: relationship of cerebrospinal fluid concentration to the neurologic condition of newborns and cellular localization in the human brain.

Journal Article Pediatrics · 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 ... Link to item Cite

Toxocara canis infection: clinical and epidemiological associations with seropositivity in kindergarten children.

Journal Article J 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 ... Full text Link to item Cite