Related Experiment Video
Updated: Jan 2, 2026
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular
Anthony J Holland1, Lucie C S Aman1, Joyce E Whittington1
1Department of Psychiatry, University of Cambridge, Cambridge CB2 8AH, UK.
Insights
Genetically determined neurodevelopmental syndromes present unique mental and behavioral disorders. The Research Domain Criteria framework offers a model to classify these disorders by linking behaviors to neural mechanisms.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Neurodevelopmental syndromes have distinct developmental paths, cognitive profiles, and predispositions to mental/behavioral disorders.
- Current diagnostic systems (DSM-5, ICD-10) and applied behavioral analysis frameworks face challenges in conceptualizing these syndrome-specific disorders.
- Syndrome-specific psychopathology is linked to genetic abnormalities, raising questions about shared etiology and treatment efficacy with general population disorders.
Purpose of the Study:
- To propose a novel framework for classifying psychiatric and behavioral disorders within genetically determined neurodevelopmental syndromes.
- To integrate diagnostic, psychological, and developmental perspectives for a more accurate taxonomy.
- To establish a model that connects specific behaviors to underlying neural mechanisms.
Main Methods:
- Utilizing Prader-Willi syndrome as a case study.
- Applying the conceptual framework of the Research Domain Criteria (RDoC).
- Integrating data from diagnostic criteria, psychological assessments, and developmental trajectories.
Main Results:
- The Research Domain Criteria provides a viable model for a syndrome-specific taxonomy.
- This model facilitates the alignment of observed behaviors with identifiable neural mechanisms.
- It offers a structured approach to understanding the unique psychopathology associated with genetic syndromes.
Conclusions:
- The proposed RDoC-based model offers a more precise way to understand and classify mental and behavioral disorders in neurodevelopmental syndromes.
- This approach is crucial for developing targeted interventions by linking behaviors to neural underpinnings.
- Further research is needed to refine this taxonomy and its clinical applications.
Abstract:
Genetically determined neurodevelopmental syndromes are frequently associated with a particular developmental trajectory, and with a cognitive profile and increased propensity to specific mental and behavioural disorders that are particular to, but not necessarily unique to the syndrome. How should these mental and behavioural disorders best be conceptualised given that similar symptoms are included in the definition of different mental disorders as listed in DSM-5 and ICD-10? In addition, a different conceptual framework, that of applied behavioural analysis, has been used to inform interventions for what are termed 'challenging behaviours' in contrast to types of interventions for those conditions meeting diagnostic criteria for a 'mental disorder'. These syndrome-specific developmental profiles and associated co-morbidities must be a direct or indirect consequence of the genetic abnormality associated with that syndrome, but the genetic loci associated with the syndrome may not be involved in the aetiology of similar symptoms in the general population. This being so, should we expect underlying brain mechanisms and treatments for specific psychopathology in one group to be effective in the other? Using Prader-Willi syndrome as an example, we propose that the conceptual thinking that informed the development of the Research Domain Criteria provides a model for taxonomy of psychiatric and behavioural disorders in genetically determined neurodevelopmental syndromes. This model brings together diagnostic, psychological and developmental approaches with the aim of matching specific behaviours to identifiable neural mechanisms.
More Related Videos
10:47Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
Published on: March 2, 2018
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
01:19Autism Spectrum Disorder
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.
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
02:30Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
01:19Introduction to Psychological Disorders
Deviant Behavior
Deviance in behavior refers to actions or thought patterns that significantly diverge from societal norms or...
01:29Theoretical Approaches to Psychological Disorder
Biological approach
The biological approach posits that internal, organic factors are the primary causes of such disorders. This perspective emphasizes brain structure and function, genetic predispositions, and neurotransmitter imbalances. For example, schizophrenia has been associated with both genetic...