A comparative analysis of children born with low birthweight and attention deficit hyperactivity disorder.

Background: We aimed to compare the profile of the Wechsler Intelligence Scale for Children Fourth Edition (WISC-IV) between Japanese schoolchildren born very preterm (VP) and with very low birthweight (VLBW) and those with attention deficit hyperactivity disorder (ADHD), and to identify the specific neurocognitive characteristics of VLBW/VP children.

Methods: The VLBW/VP group in the present study included 50 (19 male, 31 female) first- to third-grade elementary school children born between January 2008 and February 2013 at Osaka Medical and Pharmaceutical University Hospital and Saiseikai Suita Hospital with birthweights <1,500 g and <32 gestational weeks. The ADHD group included 18 (13 male, 5 female) first- to third-grade elementary school children who visited Osaka Medical and Pharmaceutical University Hospital between January 2019 and October 2021.

Impacts of long-term coronavirus disease 2019 school closures on Japanese school children.

Background: This study investigated the impact of coronavirus disease 2019 pandemic school closures on the mental health of school students with chronic diseases.

Methods: Questionnaires were distributed to students from 4th-9th grade diagnosed with chronic diseases at Osaka Medical College Hospital and their parents or caregivers. Questionnaires from 286 families were returned by mail after the schools reopened.

Focal seizures during adrenocorticotropic hormone therapy in a school-aged boy: a case report.

Background: Adrenocorticotropic hormone therapy for infantile spasms, including West syndrome, has been previously reported to induce seizures. We present the findings for a school-aged child with epilepsy who developed new focal seizures during adrenocorticotropic hormone therapy.

Case Presentation: The Japanese patient had posttraumatic epilepsy and developed intractable focal seizures at the age of 13 years.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: -Congenital Disorders of Glycosylation and -Related Retinitis Pigmentosa.

Purpose: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophies caused by UPD.

A nation-wide survey of Japanese pediatric MOG antibody-associated diseases.

Objective: To elucidate the clinical characteristics of Japanese pediatric patients with acquired demyelinating diseases (ADS), positive for myelin oligodendrocyte glycoprotein antibody (MOG-IgG), we conducted a nation-wide survey.

Methods: Information about pediatric patients under 18 years old with ADS was solicited with surveys sent to 323 facilities. In an initial survey, we asked whether the center had any patients with ADS, and the MOG-IgG serostatus of the patients.

Three cases in which drug-induced hyponatremia was improved by replacing carbamazepine with lacosamide.

Carbamazepine often causes drug-induced hyponatremia. Hyponatremia due to carbamazepine may be improved by changing to the same mechanism of action, lacosamide.

Validity of the Wide-range Assessment of Vision-related Essential Skills in Japanese Children with Learning Problems.

Significance: Our study revealed that the validity of a new Japanese visual-perceptual test was acceptable. Visual-perceptual abilities are important to activities of daily living; thus, accurate assessment of visual perception is especially important for children with neurodevelopmental disorders and particularly so for those with learning problems.

Purpose: Visual perception refers to the process by which one receives visual information through sensory impulses and then translates those impulses into meaning based on a previously developed view of the environment.

Clinical findings in patients with febrile seizure after 5 years of age: A retrospective study.

Objective: Febrile seizures (FSs) typically occur in infants and children between 6 and 60 months of age. Rarely, FS can occur in late childhood (late FS [LFS]; >5 years of age); however, the clinical features of LFS remain unclear. We aimed to clarify the clinical features of LFS.

Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.

The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable and progressive course that often leads to premature death. It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked to various unique leukodystrophies and leukoencephalopathies. Aminoacyl t-RNA synthetase proteins are fundamentally known as the first enzymes of translation, catalysing the conjugation of amino acids to cognate tRNAs for protein synthesis.

A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing.

Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing.

Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause.

Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome.

What Is Known And Objective: Dravet syndrome (DS) is an intractable epilepsy syndrome. The three-drug combination therapy of sodium valproate (VPA), clobazam (CLB) and stiripentol (STP) is recommended worldwide.

Case Summary: We present a case of DS, in which treatment with CLB could not be continued because of the appearance of adverse reactions to it.

The efficacy of adrenocorticotropic hormone in a girl with anti-N-methyl-D-aspartate receptor encephalitis.

Background: Immunomodulatory therapy has shown some therapeutic benefits in patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. In this report, we describe the use of adrenocorticotropic hormone (ACTH) immunotherapy with good outcome in a patient with anti-NMDAR encephalitis.

Subject And Methods: A 4-year-old girl developed convulsions in her right arm and leg without impaired consciousness.

A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.

Purpose: We performed ophthalmic examinations, including optical coherence tomography (OCT), on a case diagnosed with hydranencephaly.

Case Report: This case involved a female infant born at the gestational age of 35 weeks and 4 days, with the birth weight of 2,152 g, who was one of monochorionic diamniotic twins, and the identical twin died in utero at the gestational age of 24 weeks. After that, examination by fetal echo indicated that she had microcephaly and ventriculomegaly.

Hippocampal signal abnormality on the first day of illness in acute encephalopathy with biphasic seizures and late reduced diffusion caused by HHV-6 infection.

We report a 13-month-old girl who developed acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) with transient reduced diffusion in the hippocampus and anterior commissure on diffusion-weighted imaging (DWI), which was performed on the first day after febrile status epilepticus (FSE) as the initial neurological symptom of AESD. DWI just after late seizures showed high signal intensity lesions in both left hippocampus and anterior commissure, and left extratemporal and occipital subcortical white matter. HHV-6 DNA was positive in both blood and cerebrospinal fluid samples.

[Parents’opinions of the changes in their children’s epilepsy treatment during the transition from childhood to adulthood].

Objective: Patients with childhood-onset epilepsy often need continued epilepsy treatment into adulthood. We investigated parents’ opinions of the changes in their children’s epilepsy treatment during the transition from childhood to adulthood using questionnaires and formulated agendas to build the appropriate medical treatment system for epilepsy. Methods: We distributed questionnaires to parents of patients with epilepsy who were 12 to 18 years old.

Post-vaccination MDEM associated with MOG antibody in a subclinical Chlamydia infected boy.

The mechanism of post-vaccination acute disseminated encephalomyelitis (ADEM) has been hypothesized as resulting from vaccination-injected antigens cross-reacting with myelin components, however, a precise etiology has been uncertain. In this report, we describe the case of a 6-year-old Japanese boy who had multiphasic disseminated encephalomyelitis (MDEM), and was positive for both anti-myelin oligodendrocyte glycoprotein (MOG) antibodies and Chlamydophila pneumoniae antibodies. After vaccinations that were the second one for measles and rubella, and the booster immunization for Japanese encephalitis, the patient presented with fever, headache, vomiting, and a change in personality.

Clinical features of long-term low-dose levetiracetam treatment for epilepsy.

Background: The aim of this study was to assess the rate of response to long-term low-dose levetiracetam (LEV) treatment and the clinical factors associated with response.

Methods: The response to low-dose LEV of 43 patients with epilepsy (22 male, 21 female; age range, 5-39 years; median age, 13 years) was retrospectively assessed. Patients aged <15 years received <20 mg/kg/day LEV, whereas those aged ≥15 years received <1000 mg/day LEV.

Acute abdominal pain as the only symptom of a thoracic demyelinating lesion in multiple sclerosis.

Multiple sclerosis (MS) is a syndrome characterized by complex neurological symptoms resulting from demyelinating lesions in the central nervous system. We report a child with a relapse of MS whose only presenting symptom was severe abdominal pain. Dysfunctional intestinal mobility was assessed by abdominal computed tomography.

Incidence of febrile seizure in patients with Down syndrome.

Background: It is unclear whether the incidence of febrile seizure (FS) in children with Down syndrome (DS) is higher or lower than in the general population. In this study, we investigated the incidence of FS in DS patients using mailed questionnaires.

Methods: The questionnaires were distributed to parents or caregivers of DS patients attending Osaka Medical College Hospital and six other facilities.

[Successful treatment of epilepsy and circadian rhythm disturbance with levetiracetam in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)].

We report a 21-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA) showing progressive myoclonus epilepsy (PME), who responded to levetiracetam (LEV) at an initial dose of 1,000 mg/day. The patient developed epilepsy at the age of 10 years, and also showed intellectual regression. Various antiepileptic drugs showed no effects on generalized tonic seizures, tonic-clonic seizures, and myoclonus.

ACTH therapy on intractable epilepsy in Hemiconvulsion-Hemiplegia-Epilepsy syndrome.

Introduction: In the chronic phase of Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome, developing epilepsy may be intractable. Herein, we report a case where adrenocorticotropic hormone (ACTH) ceased an intractable habitual partial seizure in a patient with HHE syndrome.

Case Report: A developmentally normal one-year-old girl presented with left focal motor status epilepticus in the clinical course of rotavirus infection.