Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis.

Objective: Early diagnosis and treatment of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) are crucial for a favorable prognosis. Detecting the causative autoantibodies can be challenging. Probable diagnostic criteria are useful in adults less so in children.

Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children often requires early immunosuppressive therapy before antibody detection. While various electroencephalogram (EEG) patterns, including extreme delta brushes (EDBs), have been reported in adults, pediatric EEG characteristics remain understudied. This study aims to assist clinicians in identifying severe cases early, potentially improving treatment outcomes through prompt intervention.

Paediatric antibody prevalence in seizure score to predict autoimmune aetiology in seizure disorders.

Aim: To modify the antibody prevalence in epilepsy (APE) score of children with suspected autoimmune central nervous system disease with seizures.

Methods: We retrospectively analysed the cerebrospinal fluid of 157 children (aged 0-18 years) with suspected autoimmune central nervous system disease for antineuronal antibodies in our laboratory from 2016 to 2023. Participants were randomly divided into the development cohort (n = 79, 35 females; median 7 years, SD 4 years 7 months, range 4-11 years) and validation cohort (n = 78, 28 females; median 7 years, SD 4 years 5 months, range 4-12 years).

Complement-dependent cytotoxicity of human autoantibodies against myelin oligodendrocyte glycoprotein.

Background: The autoantibody to myelin oligodendrocyte glycoprotein (MOG), a component of the central nervous system myelin, has been identified in a subset of demyelinating diseases. However, there is no convincing evidence to support the direct pathogenic contribution of this autoantibody.

Objective: To elucidate the role of anti-MOG autoantibodies in human demyelinating disorders, we assessed the effect of autoantibodies on MOG-expressing cells.

Whole genome sequencing of 45 Japanese patients with intellectual disability.

Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneity. Whole genome sequencing (WGS) has been applied as a single-step clinical diagnostic tool for ID because it detects genetic variations with a wide range of resolution from single nucleotide variants (SNVs) to structural variants (SVs).

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Epileptic-dyskinetic encephalopathies are rare epilepsies characterized by early-onset epileptic encephalopathies (EOEEs) with involuntary movement. Herein, we investigated the impact of gene variants in epileptic-dyskinetic encephalopathies. Four independent patients from four families who exhibited involuntary movements were recruited from Tokyo Metropolitan Neurological Hospital.

IVIG in childhood primary angiitis of the central nervous system: A case report.

Aggressive immunosuppressive therapies have been proposed to treat primary angiitis of the central nervous system (PACNS). Here, we report the first successfully stabilized case of childhood, small-vessel PACNS with intravenous immunoglobulin (IVIG) therapy. A 12-year-old boy was admitted to our hospital complaining of recurrent headaches and upper-left homonymous quadrantanopia, since the age of 11 years.

Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.

Background: Ataxia telangiectasia is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Quality of life is severely impaired by neurological symptoms. However, curative options for the neurological symptoms are limited.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Background: Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that they are genetically distinct.

[Treatment for self-injurious behavior in mentally handicapped populations--a report from our practice].

Objective: Self-injurious behavior (SIB) is a common problem in individuals with intellectual disabilities, yet its clinical management remains to be established. We aimed to clarify the background factors and profiles of SIB in mentally and physically handicapped subjects and subsequently examined the efficacy of treatments attempted in our practice in order to achieve a better understanding of SIB and appro- priate interventions in these populations.

Methods: We surveyed 92 mentally handicapped subjects with SIB (including 25 females and 67 males, most of whom also had physical disabilities) as outpatients or inpatients of our institution using a retrospective questionnaire com- pleted by the corresponding doctors.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established subtype of neurodegeneration with brain iron accumulation (NBIA). By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing.