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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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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.
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Modeling in Therapy01:26

Modeling in Therapy

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Modeling, a key technique in therapy, uses observational learning to help clients acquire and practice new skills by watching therapists demonstrate desired behaviors. This approach, rooted in Albert Bandura's concept of vicarious learning, plays a significant role in therapeutic interventions for various psychological conditions, including social anxiety, ADHD, and depression.
Participant Modeling
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Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

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Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
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Conduct Disorder01:28

Conduct Disorder

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Conduct disorder is a complex mental health diagnosis characterized by a repetitive and persistent pattern of behavior that violates societal norms, the rights of others, or age-appropriate rules. The diagnostic criteria for conduct disorder require the presence of at least three problematic behaviors within the past 12 months, with at least one occurring in the past six months. These behaviors are grouped into four categories: aggression toward people and animals; destruction of property;...
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Social Anxiety Disorder01:28

Social Anxiety Disorder

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Social anxiety disorder, also known as social phobia, is characterized by an intense fear of social situations where one might face humiliation, rejection, embarrassment, or negative evaluation. This disorder leads individuals to avoid activities like casual conversations, public speaking, or seemingly simple tasks such as eating, signing documents, or swimming, in public settings. Its impact extends beyond discomfort, often significantly interfering with daily functioning and quality of life.
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Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

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Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
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The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns.

Elisabetta Bolognesi1, Franca Rosa Guerini1, Alessandra Carta2

  • 1Laboratory of Molecular Medicine and Biotechnology, IRCCS Fondazione Don Carlo Gnocchi, Via Capecelatro 66, 20148 Milan, Italy.

International Journal of Molecular Sciences
|September 28, 2023
PubMed
Summary

Genetic variations in the SNAP-25 gene distinguish early-onset autism spectrum disorder (EO-ASD) from regressive-onset ASD (RO-ASD). Specific SNAP-25 alleles may serve as biomarkers for different ASD subtypes, aiding in tailored treatments.

Keywords:
ASD classic onsetASD regressive onsetSNAP-25 gene (synaptosomal-associated protein of 25 kDa)autism spectrum disorders (ASD)epigeneticsregression

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Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Autism Spectrum Disorders (ASD) Research

Background:

  • Autism spectrum disorders (ASD) exhibit varied onset patterns, including early-onset ASD (EO-ASD) and regressive-onset ASD (RO-ASD), with the neurobiological basis of regression remaining debated.
  • The 25 kDa synaptosomal-associated protein (SNAP-25) gene is crucial for synaptic function and implicated in ASD pathogenesis.

Purpose of the Study:

  • To investigate the association of single nucleotide polymorphisms (SNPs) in the SNAP-25 gene with distinct ASD onset patterns (EO-ASD vs. RO-ASD).
  • To explore the potential of SNAP-25 SNPs as diagnostic biomarkers for differentiating ASD subtypes.

Main Methods:

  • Analysis of four SNAP-25 SNPs (rs363050, rs363039, rs363043, rs1051312) in a cohort of 69 children with EO-ASD and 58 children with RO-ASD, compared to healthy controls (HC).
  • Genotyping was performed to identify allele and genotype frequencies for each SNP across the study groups.

Main Results:

  • The rs363039 G allele and GG genotype were significantly more prevalent in EO-ASD patients compared to RO-ASD and HC.
  • Conversely, the rs1051312 T allele and TT genotype were more frequent in RO-ASD individuals than in EO-ASD and HC.
  • SNP rs1051312, located in the 3' UTR, is a microRNA target, suggesting a potential epigenetic role in RO-ASD.

Conclusions:

  • Specific SNAP-25 alleles/genotypes (rs363039 and rs1051312) effectively discriminate between EO-ASD and RO-ASD.
  • These findings suggest that SNAP-25 SNPs could serve as diagnostic biomarkers for ASD subtypes.
  • Understanding these genetic distinctions may illuminate underlying biological mechanisms, paving the way for tailored therapeutic and rehabilitative strategies for ASD.