Scholars@Duke
Joan Mary Jasien

Joan Mary Jasien

Associate Professor of Pediatrics
Pediatrics, Neurology
joan.jasien@duke.edu
2301 Erwin Rd, Durham, NC 27710
2301 Erwin Rd, Durham, NC 27710

Selected Publications

Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida.

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

Variation in Neurodegeneration‐Linked Brain Regions in Young Adult APOE E4 Carriers With Spina Bifida

Journal Article Annals of the Child Neurology Society · September 2025 ABSTRACTObjectivePossible pleiotropic effects of apolipoprotein E4 (APOE E4) in individuals with congenital brain malformations are relatively unknown. Our goal was to determine if neurode ... Full text Open Access Cite

A Systematic Review of Race or Ethnicity and Risk of Death in Spina Bifida in the United States.

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

Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial.

Journal Article Dev Med Child Neurol · December 2022 AIM: To evaluate safety and motor function after treatment with allogeneic umbilical cord blood (AlloCB) or umbilical cord tissue-derived mesenchymal stromal cells (hCT-MSC) in children with cerebral palsy (CP). METHOD: Ninety-one children (52 males, 39 fe ... Full text Open Access Link to item Cite

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Journal Article Hum Mol Genet · August 25, 2022 DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with pro ... Full text Open Access Link to item Cite

Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · May 2022 BACKGROUND: Alternating hemiplegia of childhood (AHC) pathophysiology suggests predisposition to sedation and anesthesia complications. GOALS: Hypotheses: 1) AHC patients experience high rates of sedation-anesthesia complications. 2) ATP1A3 mutation genoty ... Full text Link to item Cite

A Systematic Review of Cognitive Function in Adults with Spina Bifida.

Journal Article Dev Neurorehabil · November 2021 Background: Though much research has been done on the cognitive profiles of children, the abilities of patients with SBM as they age into adulthood are not well understood.Objective: Determine if adults with SBM have impairments in overall cognition, atten ... 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

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Journal Article Hum Mol Genet · June 26, 2021 The Polycomb group (PcG) gene RNF2 (RING2) encodes a catalytic subunit of the Polycomb repressive complex 1 (PRC1), an evolutionarily conserved machinery that post-translationally modifies chromatin to maintain epigenetic transcriptional repressive states ... Full text Link to item Cite

Cognitive and motor function in adults with spina bifida myelomeningocele: a pilot study.

Journal Article Childs Nerv Syst · April 2021 PURPOSE: Determine the feasibility and utility of using a battery of tests utilized, so far, to assess neurological-cognitive functions in the typical adult population and identify the spectrum of these functions in adult SBM patients. METHODS: Prospective ... Full text Link to item Cite

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Journal Article Epilepsy Behav · March 2021 BACKGROUND: ATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments. AIM: We aimed to describe th ... Full text Open Access Link to item Cite

Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.

Journal Article Am J Med Genet A · January 2021 Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature to evaluate gaps and address key questions. A series of key quest ... Full text Link to item Cite

Opportunities, barriers, and recommendations in down syndrome research.

Journal Article Transl Sci Rare Dis · 2021 BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly under ... Full text Link to item Cite

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.

Journal Article Brain Commun · 2021 Alternating hemiplegia of childhood is a rare neurodevelopmental disorder caused by ATP1A3 mutations. Some evidence for disease progression exists, but there are few systematic analyses. Here, we evaluate alternating hemiplegia of childhood progression in ... Full text Link to item Cite

Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.

Journal Article Pediatr Neurol · October 2020 BACKGROUND: Alternating hemiplegia of childhood often manifests severe or extreme behavioral problems, the nature of which remains to be fully characterized. METHODS: We analyzed 39 consecutive patients with alternating hemiplegia of childhood for occurren ... Full text Link to item Cite

Social impairments in alternating hemiplegia of childhood.

Journal Article Dev Med Child Neurol · July 2020 AIM: To evaluate presence and severity of social impairments in alternating hemiplegia of childhood (AHC) and determine factors that are associated with social impairments. METHOD: This was a retrospective analysis of 34 consecutive patients with AHC (19 f ... Full text Link to item Cite

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.

Journal Article Am J Med Genet A · July 2020 Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance with the potential to develop screening recommendations to improve c ... Full text Link to item Cite

Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.

Journal Article Epileptic Disord · February 1, 2020 Mutations in ATP1A3 have been found to cause rapid-onset dystonia Parkinsonism, alternating hemiplegia of childhood, epileptic encephalopathy and other syndromes. We report a four-year, nine-month-old boy with episodes of frequent and recurrent status epil ... 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

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Journal Article Hum Mutat · August 2019 Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families ... 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

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.

Journal Article Dev Med Child Neurol · May 2019 AIM: To determine the neuropsychological abnormalities that occur in alternating hemiplegia of childhood (AHC) and report on our experience in managing them. METHOD: Patients underwent evaluations according to our standardized AHC pathway. Data were entere ... Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Journal Article Genet Med · April 2018 PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted sin ... Full text Open Access Link to item Cite

Motor function domains in alternating hemiplegia of childhood.

Journal Article Dev Med Child Neurol · August 2017 AIM: To characterize motor function profiles in alternating hemiplegia of childhood, and to investigate interrelationships between these domains and with age. METHOD: We studied a cohort of 23 patients (9 males, 14 females; mean age 9y 4mo, range 4mo-43y) ... Full text Link to item Cite

Resident Dyads Providing Transition Care to Adolescents and Young Adults With Chronic Illnesses and Neurodevelopmental Disabilities.

Journal Article J Grad Med Educ · April 2017 BACKGROUND: Youth with special health care needs often experience difficulty transitioning from pediatric to adult care. These difficulties may derive in part from lack of physician training in transition care and the challenges health care providers exper ... Full text Link to item Cite

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Journal Article Am J Hum Genet · February 2, 2017 Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurode ... Full text Link to item Cite

Neurobiology of Disease

Book · January 1, 2016 Preceded by Neurobiology of disease / edited by Sid Gilman. 2007. ... Cite

Cerebral Palsy

Chapter · January 1, 2016 Preceded by Neurobiology of disease / edited by Sid Gilman. 2007. ... Cite

Satisfaction With Life, Coping, and Spirituality Among Urban Families.

Journal Article J Prim Care Community Health · October 2015 BACKGROUND: Urban families face many challenges that affect life satisfaction, including low income, limited access to resources, and unstable neighborhoods. PURPOSE: To investigate life satisfaction and identify potential mediators: neighborhood stability ... Full text Link to item Cite

Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder.

Journal Article Front Physiol · 2015 Autism spectrum disorders (ASD) are complex heterogeneous neurodevelopmental disorders of an unclear etiology, and no cure currently exists. Prior studies have demonstrated that the black and tan, brachyury (BTBR) T+ Itpr3tf/J mouse strain displays a behav ... Full text Open Access Link to item Cite

Neonatal neuroimaging findings in congenital myotonic dystrophy.

Journal Article J Perinatol · February 2014 We report on a preterm neonate of 30 weeks gestational age who presented with marked muscular hypotonia and severe respiratory failure at birth and was diagnosed with congenital myotonic dystrophy. Neuroimaging at 36 gestational weeks demonstrated diffuse ... Full text Link to item Cite

The effects of aging on the BTBR mouse model of autism spectrum disorder.

Journal Article Front Aging Neurosci · 2014 Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder characterized by alterations in social functioning, communicative abilities, and engagement in repetitive or restrictive behaviors. The process of aging in individuals wi ... Full text Open Access Link to item Cite

Aging and bone health in individuals with developmental disabilities

Journal Article International Journal of Endocrinology · August 17, 2012 Low bone mass density (BMD), a classical age-related health issue and a known health concern for fair skinned, thin, postmenopausal Caucasian women, is found to be common among individuals with developmental/intellectual disabilities (D/IDs). It is the con ... Full text Cite