Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.

Many disease-causing genes have been identified by determining the breakpoints of balanced chromosomal translocations. Recent progress in genomic analysis has accelerated the analysis of chromosomal translocation-breakpoints at the nucleotide level. Using a long-read whole-genome sequence, we analyzed the breakpoints of the cytogenetically balanced chromosomal translocation t(5;15)(q21;26.

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.

A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features.

Effect of anti-attention-deficit hyperactivity disorder (ADHD) medication on clinical seizures and sleep EEG: A retrospective study of Japanese children with ADHD.

Aims: Patients with attention-deficit hyperactivity disorder (ADHD) often exhibit basic or paroxysmal wave abnormalities on electroencephalography (EEG). Methylphenidate (MPH), an anti-ADHD stimulant, has been reported to lower the seizure threshold. However, there have been no reports comparing EEG changes before and after administration of the central nervous system (CNS) stimulant MPH, or atomoxetine (ATX) hydrochloride, a non-CNS stimulant.

A Web-Based Auditory and Visual Emotion Perception Task Experiment With Children and a Comparison of Lab Data and Web Data.

Due to the COVID-19 pandemic, the significance of online research has been rising in the field of psychology. However, online experiments with child participants are rare compared to those with adults. In this study, we investigated the validity of web-based experiments with child participants 4-12 years old and adult participants.

Audiovisual emotion perception develops differently from audiovisual phoneme perception during childhood.

This study investigated the developmental paths in the use of audiovisual information for the perception of emotions and phonemes by Japanese speakers. Children aged 5 to 12 years and adults aged 30 to 39 years engaged in an emotion perception task in which speakers expressed their emotions through their faces and voices, and a phoneme perception task using phonemic information in speakers' lip movements and speech sounds. Results indicated that Japanese children's judgement of emotions by using auditory information increased with increasing age, whereas the use of audiovisual information for judging phonemes remained constant with increasing age.

Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.

Background: CDKL5 deficiency is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene and clinically manifests often in females as drug-resistant intractable epilepsy and severe psychomotor retardation.

Case Report: We report the case of a girl with a CDKL5 mutation born at 39 weeks without neonatal asphyxia. She developed epilepsy at age 1 month with myoclonus of the face and limbs, and non-rhythmic and irregular opsoclonus.

Altered brain activity for phonological manipulation in dyslexic Japanese children.

Because of unique linguistic characteristics, the prevalence rate of developmental dyslexia is relatively low in the Japanese language. Paradoxically, Japanese children have serious difficulty analysing phonological processes when they have dyslexia. Neurobiological deficits in Japanese dyslexia remain unclear and need to be identified, and may lead to better understanding of the commonality and diversity in the disorder among different linguistic systems.

Neurobehavioral and hemodynamic evaluation of Stroop and reverse Stroop interference in children with attention-deficit/hyperactivity disorder.

Failure of executive function (EF) is a core symptom of attention-deficit/hyperactivity disorder (ADHD). However, various results have been reported and sufficient evidence is lacking. In the present study, we evaluated the characteristics of children with ADHD using the Stroop task (ST) and reverse Stroop task (RST) that reflects the inhibition function of EF.

Difference of growth-inhibitory effect of Scutellaria baicalensis-producing flavonoid wogonin among human cancer cells and normal diploid cell.

Methanol extract from cultured Scutellaria baicalensis cells inhibited the proliferation of human monocytic leukemia cell line THP-1 and human osteogenic sarcoma cell line HOS. The inhibitory effects of baicalin, baicalein and wogonin, the three major flavonoids contained in the extract, were studied. It should be noted that wogonin did not show the inhibitory effect on human fetal lung normal diploid cell line TIG-1, as compared to the inhibition observed in cancer cells.