Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

100
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
100
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Stability in Reading Improvement After Home-Based Multi-Componential Training for Children with Developmental Dyslexia.

Brain sciences·2026
Same author

Altered abdominal spatial mapping despite preserved tactile acuity in adolescents with Restrictive Eating Disorders.

Acta psychologica·2026
Same author

Multivariate Associations Between R-PAS Variables and Suicidal Ideation and Behaviors in Help-Seeking Adolescents.

Brain sciences·2026
Same author

Special Issue: Genetic Basis of Autism Spectrum Disorder.

International journal of molecular sciences·2026
Same author

Early Oral Melatonin Supplementation Supports White Matter Maturation in Preterm Infants: Neuroprotective Insights of an Antioxidant Molecule.

Journal of pineal research·2026
Same author

Age-related patterns in the creation of social prediction models: a study using immersive virtual reality.

Scientific reports·2026
Same journal

When Platelet Stimulation Becomes Marrow Stress: Rethinking Thrombopoietin Receptor Agonist Intensification in Pediatric Immune Thrombocytopenia.

Pediatric reports·2026
Same journal

Effects of White Noise on Academic Skills in Children with ADHD and Specific Learning Disorders: New Perspectives for Personalised Rehabilitation and Educational Intervention.

Pediatric reports·2026
Same journal

Blended and Technology-Enhanced Education in Pediatric Emergency Nursing: A Systematic Review.

Pediatric reports·2026
Same journal

A Century of Post-Traumatic Appendicitis: A Comprehensive Review with an Illustrative Case.

Pediatric reports·2026
Same journal

A Coordinated Adhesion-Molecule Activation Profile in Pediatric Sepsis: A Prospective Cohort Study from Vietnam.

Pediatric reports·2026
Same journal

Efficacy and Safety of Umifenovir (Arbidol) in Children with Influenza-like Illnesses: A Systematic Review and Meta-Analysis.

Pediatric reports·2026
See all related articles

Related Experiment Video

Updated: Jul 7, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K

SNAP-25 Polymorphisms in Autism Spectrum Disorder: A Pilot Study towards a Possible Endophenotype.

Martina Maria Mensi1, Franca Rosa Guerini2, Michele Marchesi3

  • 1Child Neuropsychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.

Pediatric Reports
|December 22, 2023
PubMed
Summary
This summary is machine-generated.

Genetic variations in SNAP-25 may influence autism severity and attention deficits. Specific SNAP-25 polymorphisms are linked to lower IQ and more pronounced autistic features in children with autism spectrum disorder.

Keywords:
SNAP25attentionautism spectrum disorderendophenotypes

More Related Videos

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

1.7K
Strategies for Assessing Autistic-Like Behaviors in Mice
07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

1.0K

Related Experiment Videos

Last Updated: Jul 7, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

1.7K
Strategies for Assessing Autistic-Like Behaviors in Mice
07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

1.0K

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Psychiatric Genetics

Background:

  • Autism spectrum disorder (ASD) presents with diverse clinical manifestations, complicating diagnosis and intervention.
  • Attentional difficulties are a common comorbidity in ASD.
  • Synaptosome-associated protein 25 (SNAP25) is crucial for neurotransmission and has been implicated in psychiatric disorders and hyperactivity in ASD.

Purpose of the Study:

  • To investigate the association between SNAP-25 gene polymorphisms and clinical/behavioral characteristics in children with ASD.
  • To explore potential endophenotypes related to SNAP-25 variations in severe ASD cases with attentional difficulties.

Main Methods:

  • Clinical, behavioral, and neuropsychological data were collected from 41 children diagnosed with ASD.
  • Participants were genotyped for five single-nucleotide polymorphisms (SNPs) of the SNAP-25 gene.
  • Children were stratified based on their Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) Severity Score.

Main Results:

  • Significant associations were found between the SNAP-25 rs363050 (A/G) polymorphism and clinical data in the high-severity ASD group.
  • Children with the GG genotype at rs363050 exhibited lower total IQ scores.
  • The GG genotype was also associated with more severe autistic functioning and greater attentional difficulties.

Conclusions:

  • The SNAP-25 rs363050 polymorphism may be a genetic marker associated with severe autistic functioning and attentional deficits.
  • This finding could inform the identification of specific endophenotypes within the autism spectrum.
  • Further research into SNAP-25 genetics may aid in personalized treatment strategies for ASD.