Publications by authors named "Sawako Furukawa"
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.
Psychiatry Clin Neurosci
November 2024
Article Synopsis
- The study aimed to explore the genetic basis and pathogenic variants associated with autism spectrum disorder (ASD) by performing whole-genome sequencing on 57 Japanese ASD patients and their parents.
- Researchers identified potentially pathogenic variants in about 31.6% of the patients, with a higher rate (43.5%) among those with comorbid intellectual developmental disorder (IDD), highlighting specific genes like PTEN and CHD7 linked to recognized ASD phenotypes.
- The findings emphasize the importance of understanding the genetic underpinnings of ASD to aid in clinical diagnosis and treatment, though no significant results were found regarding short tandem repeats or polygenic risk scores.
Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects.
Neuropsychopharmacol Rep
December 2024
Article Synopsis
- - A 61-year-old woman with 22q11.2 deletion syndrome presented symptoms like intellectual developmental disorder, treatment-resistant schizophrenia, and various congenital anomalies, linked to a unique genetic variant identified through whole-genome sequencing.
- - Whole-genome sequencing unveiled a significant deletion in chromosome 22 and a nonsense variant in the MAP1A gene, which is connected to key processes in brain development and has been linked to autism and schizophrenia.
- - This case emphasizes the value of whole-genome sequencing in uncovering additional genetic factors that may account for the varying clinical features of 22q11.2 deletion syndrome, suggesting the need for more research on these secondary genetic influences.
Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions.
Neuropsychopharmacol Rep
September 2023
Background: Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder.
View Article and Find Full Text PDFAccumulating epidemiological studies have suggested a positive association between advanced paternal age at conception and the increased risk of neurodevelopmental outcomes such as autism spectrum disorder (ASD) in their children. Recent biological studies using human sperm have identified increased de novo mutations in aged fathers, and hyper- or hypomethylation has been identified in the sperm from aged rodents. Dysregulation of DNA methylation in sperm may explain the transgenerational effects on the pathogenesis of ASD.
View Article and Find Full Text PDFImplantation of continuous-flow left ventricular assist device in a narrow lumen is technically challenging to secure an optimal support. We experienced a patient with the transposition of the great arteries after the Senning procedure who was initially implanted with Jarvik 2000®. She presented with worsening heart failure symptoms 2 years after implanting Jarvik 2000®.
View Article and Find Full Text PDFPeople with intellectual disabilities (IDs) and their caregivers face difficulties during the COVID-19 pandemic. However, limited studies have comprehensively investigated their challenges, especially in Japan. We aimed to clarify the concerns and needs of people with IDs and their caregivers during the COVID-19 pandemic in Japan.
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