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NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1α, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal/mesodermal/endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1α function in human neurons and in ASD.
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http://dx.doi.org/10.1016/j.scr.2021.102222 | DOI Listing |
Pediatr Res
September 2025
Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
Background: Children with congenital cytomegalovirus (cCMV) have a wide spectrum of possible neurodevelopmental outcomes.
Objectives: To describe neurodevelopmental (ND) Phenotypes of children with cCMV based on medical, developmental, and behavioral outcomes in childhood, and examine whether birth characteristics were associated with ND Phenotype.
Methods: Caregivers of children with cCMV (N = 242, child aged 12 months to <11 years) completed survey instruments reporting on the child's birth characteristics, reasons for cCMV testing, and present medical, developmental, and behavioral status.
JMIR Res Protoc
September 2025
Department of Psychiatry, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea.
Background: Autism spectrum disorder (ASD) and social communication disorder (SCD) are neurodevelopmental disorders characterized by deficits in social communication that hinder social adaptation, with limited pharmacological options for therapy owing to the absence of identified biomarkers. Individuals with ASD or SCD require lifelong interventions tailored to their development stages. However, most existing interventions primarily focus on early childhood, leaving adolescents relatively underserved.
View Article and Find Full Text PDFBrain Dev
September 2025
Institute of Medical Science, Gyeongsang National University College of Medicine, Jinju, Republic of Korea; Department of Neurology, Gyeongsang National University Hospital, Jinju, Republic of Korea.
Objective: To compare parenting stress between parents of children with autism spectrum disorder (ASD) and other developmental disabilities (DDs) and to examine ASD's influence on parenting stress through mediation analysis.
Methods: We retrospectively analyzed 48 children with ASD (ASD group) and 77 with non-ASD DDs (non-ASD group), along with one of their parents, at the Gyeongsang National University Hospital between May 2021 and August 2024. All underwent developmental assessments and completed the Korean version of the Parenting Stress Index-4 and the Child Interactive Behavior Test (CIBT).
Turk J Pediatr
September 2025
Division of Developmental Pediatrics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Background: Autism spectrum disorder (ASD) is more frequently diagnosed in boys than in girls, possibly due to gender-based differences in symptom presentation or referral patterns. This study investigates gender-related variations in symptom severity and clinical presentation among preschool children referred for suspected ASD.
Methods: This study included 125 children (boys: n=103; girls: n=22) aged 2-5 years suspected of having ASD.
Cuad Bioet
September 2025
Facultad de Farmacia y Nutrición de la Universidad de Navarra, Irunlarrea, 1, 31008 Pamplona.
In recent years, there has been a significant increase in minors with gender dysphoria (GD) seeking transition treatments, including puberty blockers and cross-sex hormones. The developing child's brain exhibits structural and functional differences in children with GD compared to cisgender children, particularly in areas where sex differences exist. Brain development during childhood and adolescence is strongly influenced by sex hormones.
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