Journal ArticleJ 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 ...
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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 ArticleJ 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 ...
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Journal ArticlePediatr 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleArthritis 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 ...
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Journal ArticleArthritis 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 ...
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Journal ArticlePediatr 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 ...
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Journal ArticleRheum 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 ...
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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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ConferenceArthritis 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 ...
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Journal ArticleJAMA Neurol · November 1, 2021
IMPORTANCE: Overall, 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 remains unc ...
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Journal ArticleArthritis 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 ...
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Journal ArticleNeurol 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleHosp 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleDiagnostics (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 ...
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Journal ArticleJ 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 textLink to itemCite
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 ...
Full textLink to itemCite
Journal ArticleJ 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 textLink to itemCite
Journal ArticlePediatr 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 textLink to itemCite
Journal ArticleJ 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 textLink to itemCite
Journal ArticleArthritis 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 textLink to itemCite
Journal ArticleArthritis 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 textLink to itemCite
Journal ArticlePediatr 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 textLink to itemCite
Journal ArticleRheum 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 textLink to itemCite
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 ...
Full textLink to itemCite
ConferenceArthritis 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 textLink to itemCite
Journal ArticleJAMA Neurol · November 1, 2021
IMPORTANCE: Overall, 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 remains unc ...
Full textLink to itemCite
Journal ArticleArthritis 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 textLink to itemCite
Journal ArticleNeurol 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 textLink to itemCite
Journal ArticleJ 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 textLink to itemCite
Journal ArticleHosp 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 textLink to itemCite
Journal ArticleJ 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 textLink to itemCite
Journal ArticleDiagnostics (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 textLink to itemCite
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 ArticlePediatr 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 ...
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Journal ArticleCurr 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 ...
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Journal ArticleNeurol 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 ...
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Journal ArticleBMC 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, ...
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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 ArticlePediatr 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 ...
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Journal ArticlePediatr 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 ...
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Journal ArticleArthritis 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 ...
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Journal ArticleInt 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 ...
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Journal ArticleChild 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 ...
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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 ...
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Journal ArticlePediatr 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 ...
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Journal ArticleArthritis 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 ...
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Journal ArticleCurr 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 ...
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Journal ArticlePediatr 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleArthritis 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 ...
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Journal ArticleBMC 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 ...
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