Childhood chorea

IMPORTANCE: Sydenham chorea is the most common acquired chorea of childhood worldwide; however, treatment is limited by a lack of high-quality evidence. OBJECTIVES: To evaluate historical changes in the clinical characteristics of Sydenham chorea and identify clinical and treatment factors at disease onset associated with chorea duration, relapsing disease course, and functional outcome. DATA SOURCES: The systematic search for this meta-analysis was conducted in PubMed, Embase, CINAHL, Cochrane Library, and LILACS databases and registers of clinical trials from inception to November 1, 2022 (search terms: [Sydenham OR Sydenham's OR rheumatic OR minor] AND chorea)...

BACKGROUND: Acute to subacute pediatric movement disorders require prompt diagnosis to identify potentially treatable diseases. CASE REPORT: We present a 6-year-old male with a three-week history of generalized chorea transitioning to predominantly right-sided hemichorea and then to left hemiplegia. DISCUSSION: We review the mechanisms in tuberculous meningitis underlying his movement abnormalities.

Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of chorea in children led to the recognition of an emerging role of PDEs in the field of pediatric movement disorders...

INTRODUCTION: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington's disease...

INTRODUCTION: ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia. State of the-art. ADCY5 mutations result in clinically heterogeneous manifestations which comprise a range of core and less to highly variable symptoms...

Paolo Claudio M. de Gusmao, Jeff L. Waugh Seminars in Pediatric Neurology Volume 25, April 2018, Pages 42-53 Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and damage to diverse brain structures, injury to the basal ganglia, especially the putamen or globus pallidus, appears to be a uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders...

Post-infectious neuroinflammation has been implicated in multiple models of acute onset obsessive-compulsive disorder (OCD) including Sydenham's chorea (SC), pediatric acute-onset neuropsychiatric syndrome (PANS), and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). These conditions are associated with a range of autoantibodies which are thought to be triggered by an infections, most notably group A streptococci (GAS). Based on animal models using huma sera, these autoantibodies are thought to cross-react with neural antigens in the basal ganglia and modulate neuronal activity and behavior...

INTRODUCTION: Sydenham's chorea (SC) is the most common form of acquired chorea in childhood, it is considered a neurological complication of streptococcal pharyngitis. In this study, we aimed to determine the clinical pattern, association of Sydenham's chorea with other manifestations of acute rheumatic fever, and the laboratory findings of Sydenham's chorea among Sudanese patients. METHODS: A prospective cross-sectional study involving fifty patients of various ages diagnosed with Sydenham's chorea and followed up at The National Center for Neurological Sciences from January 2017 to November 2019...

BACKGROUND: Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the ADCY5 gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach. OBJECTIVE: This scoping review attempts to summarize all available clinical literature on ADCY5-RMD. METHODS: Eighty-seven articles were selected for inclusion in this scoping review...

OBJECTIVE: To conduct the first prospective surveillance study of Sydenham's chorea (SC) in the UK and Ireland, and to describe the current paediatric and child psychiatric service-related incidence, presentation and management of SC in children and young people aged 0-16 years. DESIGN: Surveillance study of first presentations of SC reported by paediatricians via the British Paediatric Surveillance Unit (BPSU) and all presentations of SC reported by child and adolescent psychiatrists through the Child and Adolescent Psychiatry Surveillance System (CAPSS)...

BACKGROUND: Sydenham chorea is thought to be an autoimmune condition that usually develops following a group A beta-hemolytic streptococcal infection.The onset of Sydenham chorea in adults is rare and most of the adult cases usually are secondary to recurrence following childhood illness. Risk factors for chorea recurrence include irregular antibiotic prophylactic use, failure to reach remission within 6 months, and symptom persistence for longer than a year. CASE PRESENTATION: A 27-year-old young adult Ethiopian female patient with chronic rheumatic valvular heart disease for the last 8 years experienced repetitive uncontrollable movements of her extremities and torso for three years prior to her current visit...

OBJECTIVE: This study aims to evaluate the demographic and clinical findings of acute rheumatic fever (ARF) patients followed up in our clinic, their responses to treatment, and prognoses and to determine the clinical utility of echocardiography (ECHO) in the diagnosis of ARF. METHODS: We retrospectively evaluated the data of 160 patients with ARF (6-17, mean 11.7±2.3 years, F/M: 88/72) that was diagnosed according to the Jones criteria and followed up in the pediatric cardiology clinic between January 2010 and January 2017...

AIM: To evaluate clinical phenotype and molecular findings of 157 cases with GNAO1 pathogenic or likely pathogenic variants delineating the clinical spectrum, course, and response to treatments. METHOD: Clinical phenotype, genetic data, and pharmacological and surgical treatment history of 11 novel cases and 146 previously published patients were analyzed. RESULTS: Complex hyperkinetic movement disorder (MD) characterizes 88% of GNAO1 patients...

Autism spectrum disorder (ASD) is a developmental disorder characterized by the early onset of problems with communication, learning, and behavior. The syndromic form of ASD is caused by monogenic mutations. When it is not possible to find genetic or other known mechanisms, the term "idiopathic autism" is used. A significant part of both syndromic and idiopathic autism is associated with translational deregulation dependent on the mechanistic target of rapamycin (mTOR). In this review, we present both bioinformatic and experimental data that link the mTOR signaling pathway to maternal autoantibody related autism and childhood autoimmune neuropsychiatric disorders such as Sydenham's chorea and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS)...

OBJECTIVES: Movement disorders are common neurological problems. There is a considerable delay in the diagnosis of movement disorders which indirectly indicates their under-recognition. The studies regarding relative frequencies and their underlying etiology are limited. Describing and classifying them with a diagnosis helps in treating the condition. To study the clinical pattern of various movement disorders in children and to establish their etiology and outcome. MATERIALS AND METHODS: This observational study was conducted in tertiary care hospital from January 2018 to June 2019...

Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS). In this paper, we present a case of a 53-year-old Caucasian female patient with rare variants in the ERCC4 gene. When she was 42 years old, falls and loss of balance occurred. At the age of 48, involuntary, uncoordinated movements of the upper limbs and head, tongue stereotypes (licking and extending movements), speech problems (dysarthria), memory deterioration, and hearing loss occurred...

BACKGROUND: Phosphodiesterase 10A (PDE10A) controls body movements by regulating cyclic adenosine monophosphate signaling in the basal ganglia. Two classes of PDE10A variants are reported with distinctive genotype-phenotype correlation. The autosomal recessive mutations in the GAF-A and catalytic domains are associated with compromised membrane localization, and manifest with infantile onset chorea, developmental, and cognition delay with normal brain MRI. Conversely, autosomal dominant mutations in the GAF-B domain cause protein aggregates which results in childhood onset chorea in the context of normal cognition and development, with striatal lesions...

BACKGROUND: Dyskinetic cerebral palsy (DCP), a lifelong neurological disorder beginning in early childhood, manifests with hyperkinetic movements and dystonia. The Movement Disorder-Childhood Rating Scale (MD-CRS) is a clinician-reported outcome measure assessing the intensity of movement disorders and their effect on daily life in pediatric patients. Content validity of clinical outcome assessments is key to accurately capturing patient perspective. Evidence demonstrating content validity of the MD-CRS in patients with DCP is needed...

Sydenham chorea (SC), pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) and pediatric acute-onset neuropsychiatric syndrome (PANS) are postinfectious neuroinflammatory diseases that involve the basal ganglia and have obsessive-compulsive disorder as a major manifestation. As is true for many childhood rheumatological diseases and neuroinflammatory diseases, SC, PANDAS and PANS lack clinically available, rigorous diagnostic biomarkers and randomized clinical trials...

BACKGROUND: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA -related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infantile seizures. CASES: We report four individuals with a new phenotype of childhood-onset choreo-dystonia belonging to two unrelated Iranian pedigrees and harboring a novel homozygous nonsense pathogenic variant NM_002143...