Different faces of autism: Patients with mutations in <i>PTEN</i> and <i>FMR1</i> genes DOI Open Access
Adam Gorlewicz,

Ewelina Kanpska

Acta Neurobiologiae Experimentalis, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 31, 2024

Autism spectrum disorder (ASD) is among the most common neurodevelopmental conditions in humans. While public awareness of challenges faced by individuals with autism steadily increasing, underlying causes abnormalities observed ASD remains incompletely understood. The notably broad, symptoms that can manifest various forms and degrees severity. Core features ASD, such as communication difficulties, impaired social interactions, restricted patterns behavior, interests, activities, are often accompanied other co‑occurring conditions, anxiety. affects regardless gender, race, or ethnicity. Although we currently unable to pinpoint a single definitive cause autism, it clear genetics play crucial role its development. first genes associated an increased risk for were discovered rare monogenic disorders, fragile X syndrome (FXS), caused mutations messenger ribonucleoprotein 1 (FMR1) gene, macrocephaly, linked phosphatase tensin homolog (PTEN) gene. This review aims summarize current knowledge patients FMR1 PTEN genes.

Language: Английский

Environmental Enrichment as a Possible Adjunct Therapy in Autism Spectrum Disorder: Insights from Animal and Human Studies on the Implications of Glial Cells DOI Creative Commons
Enrique Hernández‐Arteaga, Josué Antonio Camacho Candia,

Roxana Pluma-Romo

et al.

Neuroglia, Journal Year: 2025, Volume and Issue: 6(2), P. 18 - 18

Published: April 25, 2025

Background/Objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition influenced by genetic, environmental, and epigenetic factors, leading to cognitive, emotional, social impairments. Due the heterogeneity of ASD, conventional therapies often have limited effectiveness, highlighting need for complementary interventions. Enriched environments (EEs), characterized enhanced sensory, motor stimulation, shown promise in alleviating ASD symptoms. This review examines role glial cells mediating effects EE. Methods: A literature was conducted, analyzing studies on EE interventions animal models humans, with focus involvement neuroplasticity synaptic remodeling. Results: Evidence from suggests that induces significant modifications, including increased synaptogenesis neuronal connectivity. Studies rodent demonstrated reduces stereotypical behaviors, improves interactions, enhances cognitive function, are closely associated astrocyte microglia activity. Similarly, human indicate lead reduced autism symptom severity improved outcomes, further supporting hypothesis play central beneficial Conclusions: highlights potential as modulator brain’s microenvironment, emphasizing critical processes intervention. These findings suggest future therapeutic strategies should integrate approaches specifically target function optimize intervention outcomes. However, research needed protocols address heterogeneity.

Language: Английский

Citations

0
Postnatal propionic acid exposure disrupts hippocampal agmatine homeostasis leading to social deficits and cognitive impairment in autism spectrum disorder-like phenotype in rats DOI

Manasi Tadas,

Nitu L. Wankhede,

Pranali A. Chandurkar

et al.

Pharmacology Biochemistry and Behavior, Journal Year: 2025, Volume and Issue: unknown, P. 174030 - 174030

Published: May 1, 2025

Language: Английский

Citations

0
Different faces of autism: Patients with mutations in <i>PTEN</i> and <i>FMR1</i> genes DOI Open Access
Adam Gorlewicz,

Ewelina Kanpska

Acta Neurobiologiae Experimentalis, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 31, 2024

Autism spectrum disorder (ASD) is among the most common neurodevelopmental conditions in humans. While public awareness of challenges faced by individuals with autism steadily increasing, underlying causes abnormalities observed ASD remains incompletely understood. The notably broad, symptoms that can manifest various forms and degrees severity. Core features ASD, such as communication difficulties, impaired social interactions, restricted patterns behavior, interests, activities, are often accompanied other co‑occurring conditions, anxiety. affects regardless gender, race, or ethnicity. Although we currently unable to pinpoint a single definitive cause autism, it clear genetics play crucial role its development. first genes associated an increased risk for were discovered rare monogenic disorders, fragile X syndrome (FXS), caused mutations messenger ribonucleoprotein 1 (FMR1) gene, macrocephaly, linked phosphatase tensin homolog (PTEN) gene. This review aims summarize current knowledge patients FMR1 PTEN genes.

Language: Английский

Citations

0