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Heather Ann Van Mater

Associate Professor of Pediatrics
Pediatrics, Rheumatology
T0909 Childrens Hlth Ctr, Box 3212, Durham, NC 27710

Selected Publications


Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series.

Journal Article J Child Neurol · January 2024 Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in previously developed language, social behavior, and adaptive functions. The etiology of childhood ... 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

Retrospective Comparison of Patients Evaluated for Pediatric Autoimmune Encephalitis with Typical and Atypical Premorbid Neuropsychiatric Development.

Journal Article J Autism Dev Disord · July 26, 2023 PURPOSE: Patients with neurodevelopmental disorders (NDD) (i.e. autism, developmental delay, early-onset psychiatric or seizure disorders) increasingly seek evaluation of new or exacerbated symptoms concerning for autoimmune encephalitis (AE). Clinical AE ... Full text Link to item Cite

Pediatric rheumatologists' perspectives on diagnosis, treatment, and outcomes of Sjögren disease in children and adolescents.

Journal Article Pediatr Rheumatol Online J · September 5, 2022 BACKGROUND: Sjögren disease in children and adolescents (pedSD) presents differently than adult disease. Diagnosis and classification are controversial, optimal treatment is unknown and outcomes are poorly understood. Here, we describe the current perspect ... Full text Link to item Cite

Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.

Journal Article J Neurodev Disord · June 3, 2022 BACKGROUND: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determ ... Full text Link to item Cite

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Kawasaki Disease.

Journal Article Arthritis Care Res (Hoboken) · April 2022 OBJECTIVE: To provide evidence-based recommendations and expert guidance for the management of Kawasaki disease (KD), focusing on clinical scenarios more commonly addressed by rheumatologists. METHODS: Sixteen clinical questions regarding diagnostic testin ... Full text Link to item Cite

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Kawasaki Disease.

Journal Article Arthritis Rheumatol · April 2022 OBJECTIVE: To provide evidence-based recommendations and expert guidance for the management of Kawasaki disease (KD), focusing on clinical scenarios more commonly addressed by rheumatologists. METHODS: Sixteen clinical questions regarding diagnostic testin ... Full text Link to item Cite

Pediatric GAD-65 Autoimmune Encephalitis: Assessing Clinical Characteristics and Response to Therapy With a Novel Assessment Scale.

Journal Article Pediatr Neurol · March 2022 BACKGROUND: Glutamic acid decarboxylase (GAD) encephalitis is a neuroinflammatory disease characterized by a broad range of symptoms including cognitive deficits, behavioral changes, and seizures. Children with this disorder have heterogeneous presentation ... Full text Link to item Cite

The Role of Pediatric Rheumatologists in Autoimmune Brain Disease.

Journal Article Rheum Dis Clin North Am · February 2022 The spectrum of autoimmune and inflammatory brain diseases continues to evolve with medical advances facilitating both the detection of inflammation of the central nervous system and the discovery of novel disease mechanisms. The clinical overlap of these ... 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

Down Syndrome-Associated Arthritis Cohort in the New Childhood Arthritis and Rheumatology Research Alliance Registry: Clinical Characteristics, Treatment, and Outcomes.

Conference Arthritis Care Res (Hoboken) · December 2021 OBJECTIVE: Down syndrome-associated arthritis (DA) is underrecognized, and current therapies used for juvenile idiopathic arthritis (JIA) appear to be poorly tolerated and less effective in patients with DA. The objective of this study was to characterize ... Full text Link to item Cite

Use and Safety of Immunotherapeutic Management of N-Methyl-d-Aspartate Receptor Antibody Encephalitis: A Meta-analysis.

Journal Article JAMA neurology · November 2021 ImportanceOverall, immunotherapy has been shown to improve outcomes and reduce relapses in individuals with N-methyl-d-aspartate receptor (NMDAR) antibody encephalitis (NMDARE); however, the superiority of specific treatments and combinations rema ... Full text Cite

Optimizing the Start Time of Biologics in Polyarticular Juvenile Idiopathic Arthritis: A Comparative Effectiveness Study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans.

Journal Article Arthritis Rheumatol · October 2021 OBJECTIVE: The optimal time to start biologics in polyarticular juvenile idiopathic arthritis (JIA) remains uncertain. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) developed 3 consensus treatment plans (CTPs) for untreated polyarticul ... Full text Link to item Cite

International Consensus Recommendations for the Treatment of Pediatric NMDAR Antibody Encephalitis.

Journal Article Neurol Neuroimmunol Neuroinflamm · July 2021 OBJECTIVE: To create an international consensus treatment recommendation for pediatric NMDA receptor antibody encephalitis (NMDARE). METHODS: After selection of a panel of 27 experts with representation from all continents, a 2-step Delphi method was adopt ... Full text Link to item Cite

Autoimmune encephalitis: proposed best practice recommendations for diagnosis and acute management.

Journal Article J Neurol Neurosurg Psychiatry · July 2021 The objective of this paper is to evaluate available evidence for each step in autoimmune encephalitis management and provide expert opinion when evidence is lacking. The paper approaches autoimmune encephalitis as a broad category rather than focusing on ... Full text Link to item Cite

Psychiatric Phenotypes of Pediatric Patients With Seropositive Autoimmune Encephalitis.

Journal Article Hosp Pediatr · July 2021 OBJECTIVES: Patients with autoimmune encephalitis (AE) often present with symptoms that are broadly characterized as psychiatric or behavioral, yet little attention is given to the precise symptomatology observed. We sought to more fully define the psychia ... Full text Link to item Cite

Autoimmune encephalitis: proposed recommendations for symptomatic and long-term management.

Journal Article J Neurol Neurosurg Psychiatry · March 1, 2021 The objective of this paper is to evaluate available evidence for each step in autoimmune encephalitis management and provide expert opinion when evidence is lacking. The paper approaches autoimmune encephalitis as a broad category rather than focusing on ... Full text Link to item Cite

Comprehensive Management of Rheumatic Diseases Affecting the Temporomandibular Joint.

Journal Article Diagnostics (Basel) · February 27, 2021 The temporomandibular joint (TMJ) is a synovial joint and thus is vulnerable to the afflictions that may affect other joints in the fields of rheumatology and orthopedics. Too often temporomandibular complaints are seen strictly as dental or orofacial conc ... Full text Link to item Cite

Hypersomnolence in a 17-year-old Boy.

Journal Article Pediatr Rev · January 2021 Full text Link to item Cite

Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series.

Journal Article J Child Neurol · January 2024 Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in previously developed language, social behavior, and adaptive functions. The etiology of childhood ... 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

Retrospective Comparison of Patients Evaluated for Pediatric Autoimmune Encephalitis with Typical and Atypical Premorbid Neuropsychiatric Development.

Journal Article J Autism Dev Disord · July 26, 2023 PURPOSE: Patients with neurodevelopmental disorders (NDD) (i.e. autism, developmental delay, early-onset psychiatric or seizure disorders) increasingly seek evaluation of new or exacerbated symptoms concerning for autoimmune encephalitis (AE). Clinical AE ... Full text Link to item Cite

Pediatric rheumatologists' perspectives on diagnosis, treatment, and outcomes of Sjögren disease in children and adolescents.

Journal Article Pediatr Rheumatol Online J · September 5, 2022 BACKGROUND: Sjögren disease in children and adolescents (pedSD) presents differently than adult disease. Diagnosis and classification are controversial, optimal treatment is unknown and outcomes are poorly understood. Here, we describe the current perspect ... Full text Link to item Cite

Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.

Journal Article J Neurodev Disord · June 3, 2022 BACKGROUND: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determ ... Full text Link to item Cite

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Kawasaki Disease.

Journal Article Arthritis Care Res (Hoboken) · April 2022 OBJECTIVE: To provide evidence-based recommendations and expert guidance for the management of Kawasaki disease (KD), focusing on clinical scenarios more commonly addressed by rheumatologists. METHODS: Sixteen clinical questions regarding diagnostic testin ... Full text Link to item Cite

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Kawasaki Disease.

Journal Article Arthritis Rheumatol · April 2022 OBJECTIVE: To provide evidence-based recommendations and expert guidance for the management of Kawasaki disease (KD), focusing on clinical scenarios more commonly addressed by rheumatologists. METHODS: Sixteen clinical questions regarding diagnostic testin ... Full text Link to item Cite

Pediatric GAD-65 Autoimmune Encephalitis: Assessing Clinical Characteristics and Response to Therapy With a Novel Assessment Scale.

Journal Article Pediatr Neurol · March 2022 BACKGROUND: Glutamic acid decarboxylase (GAD) encephalitis is a neuroinflammatory disease characterized by a broad range of symptoms including cognitive deficits, behavioral changes, and seizures. Children with this disorder have heterogeneous presentation ... Full text Link to item Cite

The Role of Pediatric Rheumatologists in Autoimmune Brain Disease.

Journal Article Rheum Dis Clin North Am · February 2022 The spectrum of autoimmune and inflammatory brain diseases continues to evolve with medical advances facilitating both the detection of inflammation of the central nervous system and the discovery of novel disease mechanisms. The clinical overlap of these ... 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

Down Syndrome-Associated Arthritis Cohort in the New Childhood Arthritis and Rheumatology Research Alliance Registry: Clinical Characteristics, Treatment, and Outcomes.

Conference Arthritis Care Res (Hoboken) · December 2021 OBJECTIVE: Down syndrome-associated arthritis (DA) is underrecognized, and current therapies used for juvenile idiopathic arthritis (JIA) appear to be poorly tolerated and less effective in patients with DA. The objective of this study was to characterize ... Full text Link to item Cite

Use and Safety of Immunotherapeutic Management of N-Methyl-d-Aspartate Receptor Antibody Encephalitis: A Meta-analysis.

Journal Article JAMA neurology · November 2021 ImportanceOverall, immunotherapy has been shown to improve outcomes and reduce relapses in individuals with N-methyl-d-aspartate receptor (NMDAR) antibody encephalitis (NMDARE); however, the superiority of specific treatments and combinations rema ... Full text Cite

Optimizing the Start Time of Biologics in Polyarticular Juvenile Idiopathic Arthritis: A Comparative Effectiveness Study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans.

Journal Article Arthritis Rheumatol · October 2021 OBJECTIVE: The optimal time to start biologics in polyarticular juvenile idiopathic arthritis (JIA) remains uncertain. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) developed 3 consensus treatment plans (CTPs) for untreated polyarticul ... Full text Link to item Cite

International Consensus Recommendations for the Treatment of Pediatric NMDAR Antibody Encephalitis.

Journal Article Neurol Neuroimmunol Neuroinflamm · July 2021 OBJECTIVE: To create an international consensus treatment recommendation for pediatric NMDA receptor antibody encephalitis (NMDARE). METHODS: After selection of a panel of 27 experts with representation from all continents, a 2-step Delphi method was adopt ... Full text Link to item Cite

Autoimmune encephalitis: proposed best practice recommendations for diagnosis and acute management.

Journal Article J Neurol Neurosurg Psychiatry · July 2021 The objective of this paper is to evaluate available evidence for each step in autoimmune encephalitis management and provide expert opinion when evidence is lacking. The paper approaches autoimmune encephalitis as a broad category rather than focusing on ... Full text Link to item Cite

Psychiatric Phenotypes of Pediatric Patients With Seropositive Autoimmune Encephalitis.

Journal Article Hosp Pediatr · July 2021 OBJECTIVES: Patients with autoimmune encephalitis (AE) often present with symptoms that are broadly characterized as psychiatric or behavioral, yet little attention is given to the precise symptomatology observed. We sought to more fully define the psychia ... Full text Link to item Cite

Autoimmune encephalitis: proposed recommendations for symptomatic and long-term management.

Journal Article J Neurol Neurosurg Psychiatry · March 1, 2021 The objective of this paper is to evaluate available evidence for each step in autoimmune encephalitis management and provide expert opinion when evidence is lacking. The paper approaches autoimmune encephalitis as a broad category rather than focusing on ... Full text Link to item Cite

Comprehensive Management of Rheumatic Diseases Affecting the Temporomandibular Joint.

Journal Article Diagnostics (Basel) · February 27, 2021 The temporomandibular joint (TMJ) is a synovial joint and thus is vulnerable to the afflictions that may affect other joints in the fields of rheumatology and orthopedics. Too often temporomandibular complaints are seen strictly as dental or orofacial conc ... Full text Link to item Cite

Hypersomnolence in a 17-year-old Boy.

Journal Article Pediatr Rev · January 2021 Full text 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

Evaluation of Diagnostic Criteria for Hashimoto Encephalopathy Among Children and Adolescents.

Journal Article Pediatr Neurol · June 2020 BACKGROUND: The recently proposed adult diagnostic criteria for the Hashimoto encephalopathy (HE) include a requirement of subclinical or mild thyroid disease. However, most reports indicate that most children treated for HE do not have evidence of thyroid ... Full text Link to item Cite

Idiopathic Pulmonary Hemosiderosis as a Mimic of Pulmonary Vasculitis: A Case Report and Review of the Literature.

Journal Article Curr Allergy Asthma Rep · April 4, 2020 PURPOSE OF REVIEW: Idiopathic pulmonary hemosiderosis (IPH) is one of the rarest and least understood causes of pulmonary hemorrhage in children. Illustrated by a complex case presentation, we discuss the clinical manifestations, diagnosis, pathology, prop ... Full text Link to item Cite

Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient.

Journal Article Neurol Neuroimmunol Neuroinflamm · March 2020 OBJECTIVE: Autoimmune encephalitis (AE) is an important and treatable cause of acute encephalitis. Diagnosis of AE in a developing child is challenging because of overlap in clinical presentations with other diseases and complexity of normal behavior chang ... Full text Link to item Cite

2.3 BEHCET’S TO SJOGREN’S: THE ABCS OF AUTOIMMUNE BRAIN DISORDERS

Conference Journal of the American Academy of Child & Adolescent Psychiatry · October 2019 Full text Cite

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

Journal Article BMC Pediatr · July 20, 2019 BACKGROUND: This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, ... Full text Open Access 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

Health-related quality of life in children with inflammatory brain disease.

Journal Article Pediatr Rheumatol Online J · November 20, 2018 OBJECTIVE: To quantify the impact of inflammatory brain diseases in the pediatric population on health-related quality of life, including the subdomains of physical, emotional, school and social functioning. METHODS: This was a multicenter, observational c ... Full text Link to item Cite

4.36 Identification of Clinical Phenotypes Within Seropositive Autoimmune Encephalitis Among Children and Adolescents

Conference Journal of the American Academy of Child & Adolescent Psychiatry · October 2018 Full text Cite

4.37 Evaluation of Diagnostic Criteria for Hashimoto's Encephalopathy in Children and Adolescents

Conference Journal of the American Academy of Child & Adolescent Psychiatry · October 2018 Full text Cite

16.4 Treatment Approaches in the Management of Autoimmune Encephalopathy

Conference Journal of the American Academy of Child & Adolescent Psychiatry · October 2018 Full text Cite

Tocilizumab in Refractory Autoimmune Encephalitis: A Series of Pediatric Cases.

Journal Article Pediatr Neurol · September 2018 BACKGROUND: Autoimmune encephalitis can result in significant neurological and psychiatric morbidity and mortality in patients of all ages and often does not respond to standard therapies. Recent reports suggest efficacy of tocilizumab, a monoclonal antibo ... Full text Link to item Cite

Prescribing for Children With Rheumatic Disease: Perceived Treatment Approaches Between Pediatric and Adult Rheumatologists.

Journal Article Arthritis Care Res (Hoboken) · February 2018 OBJECTIVE: To compare practice patterns and prescribing differences for juvenile idiopathic arthritis (JIA) between adult rheumatologists (ARs) and pediatric rheumatologists (PRs), the perceived educational needs, and factors that enhance or impede co-mana ... Full text Link to item Cite

Ultrasound versus magnetic resonance imaging of the temporomandibular joint in juvenile idiopathic arthritis: a systematic review.

Journal Article Int J Oral Maxillofac Surg · January 2018 A systematic review of published articles on ultrasound (US) and magnetic resonance imaging (MRI) of the temporomandibular joint (TMJ) in juvenile idiopathic arthritis (JIA) was performed to answer the question "What is the sensitivity and specificity of U ... Full text Link to item Cite

Evaluation and Management of Autoimmune Encephalitis: A Clinical Overview for the Practicing Child Psychiatrist.

Journal Article Child Adolesc Psychiatr Clin N Am · January 2018 Medical conditions that present with psychiatric symptoms are becoming increasingly well-recognized in response to the emergence of the field of neuroimmunology. As the availability of testing for novel antineuronal antibodies has increased, so too has the ... Full text Link to item Cite

Pediatric Inflammatory Brain Disease

Chapter · January 1, 2018 Inflammatory brain disease may initially present as a mental health change. Prompt diagnosis and treatment improves patient outcomes. Thus, it is paramount that psychiatrists and other mental health providers caring for infants, children, and adolescents u ... Full text Cite

23.4 Treatment Considerations in Autoimmune Encephalopathy

Conference Journal of the American Academy of Child & Adolescent Psychiatry · October 2017 Full text Cite

Pilot study comparing the Childhood Arthritis & Rheumatology Research Alliance (CARRA) systemic Juvenile Idiopathic Arthritis Consensus Treatment Plans.

Journal Article Pediatr Rheumatol Online J · April 11, 2017 OBJECTIVES: To assess the feasibility of studying the comparative effectiveness of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) consensus treatment plans (CTPs) for systemic Juvenile Idiopathic Arthritis (JIA) using an observational r ... Full text Link to item Cite

Comparing Presenting Clinical Features in 48 Children With Microscopic Polyangiitis to 183 Children Who Have Granulomatosis With Polyangiitis (Wegener's): An ARChiVe Cohort Study.

Journal Article Arthritis Rheumatol · October 2016 OBJECTIVE: To uniquely classify children with microscopic polyangiitis (MPA), to describe their demographic characteristics, presenting clinical features, and initial treatments in comparison to patients with granulomatosis with polyangiitis (Wegener's) (G ... Full text Link to item Cite

Pediatric inflammatory brain diseases: a diagnostic approach.

Journal Article Curr Opin Rheumatol · September 2014 PURPOSE OF REVIEW: Autoimmune-mediated inflammatory brain diseases represent a rapidly evolving area of medicine. The expanding spectrum of disease challenges providers as they strive to accurately diagnosis and treat children presenting with new onset neu ... Full text Link to item Cite

Prescription patterns for children with juvenile idiopathic arthritis in Michigan Medicaid: a comparison by prescriber type.

Journal Article Pediatr Rheumatol Online J · 2014 BACKGROUND: Due to a limited number and disparate distribution of pediatric rheumatologists in the US, a variety of physician types provide care to children with rheumatologic diseases. However, little is known about how that care may differ across prescri ... Full text Link to item Cite

Do adult disease severity subclassifications predict use of cyclophosphamide in children with ANCA-associated vasculitis? An analysis of ARChiVe study treatment decisions.

Journal Article J Rheumatol · October 2012 OBJECTIVE: To determine whether adult disease severity subclassification systems for antineutrophil cytoplasmic antibody-associated vasculitis (AAV) are concordant with the decision to treat pediatric patients with cyclophosphamide (CYC). METHODS: We appli ... Full text Link to item Cite

Psychometric characteristics of outcome measures in juvenile idiopathic arthritis: a systematic review.

Journal Article Arthritis Care Res (Hoboken) · April 2012 OBJECTIVE: To review the performance characteristics of the instruments most commonly used to measure clinical outcomes in juvenile idiopathic arthritis (JIA), including global assessments, articular indices, functional/disability assessments, and quality ... Full text Link to item Cite

Systematic review of disease-modifying antirheumatic drugs for juvenile idiopathic arthritis.

Journal Article BMC Pediatr · March 15, 2012 BACKGROUND: Treatment of juvenile idiopathic arthritis (JIA) with disease-modifying antirheumatic drugs (DMARDs) may improve outcomes compared to conventional therapy (e.g., non-steroidal anti-inflammatory drugs, intra-articular corticosteroids). The purpo ... Full text Link to item Cite