Related Experiment Video
Updated: Jun 2, 2026
11:05
Behavioral Characterization of an Angelman Syndrome Mouse Model
Published on: October 20, 2023
Abnormal language pathway in children with Angelman syndrome
Benjamin J Wilson1, Senthil K Sundaram, A H M Huq
1Department of Pediatrics and Neurology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201, USA.
Pediatric Neurology
|April 13, 2011
Summary
Children with Angelman syndrome (AS) show significant white matter abnormalities, particularly in the arcuate fasciculus, impacting speech development. This suggests developmental issues in brain wiring due to UBE3A gene loss.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Angelman syndrome (AS) is a genetic disorder causing severe developmental delays, notably speech impairment.
- The underlying neurobiological basis for language deficits in AS remains incompletely understood.
Purpose of the Study:
- To investigate the microstructural integrity of major white matter tracts in children with Angelman syndrome using diffusion tensor imaging (DTI).
- To explore the relationship between white matter abnormalities and severe language delay in AS patients.
Main Methods:
- DTI scans were performed on 7 children with genetically confirmed AS and 4 age-matched controls.
- Analysis focused on the arcuate fasciculus and other key association tracts, assessing fractional anisotropy (FA) and apparent diffusion coefficient (ADC).
Main Results:
- Six of seven AS patients lacked a discernible left arcuate fasciculus, compared to none in controls.
- The right arcuate fasciculus was absent in six AS patients.
- AS patients exhibited reduced FA and increased ADC in multiple association tracts, indicating impaired white matter integrity, especially in the arcuate fasciculus.
Conclusions:
- Patients with Angelman syndrome display global white matter integrity impairment in association tracts, with severe morphologic changes in the arcuate fasciculus.
- These findings suggest potential axon guidance problems during brain development, possibly linked to UBE3A gene expression loss.
Related Concept Videos
01:10Higher Mental Functions of the Brain: Language
Language is a system of communication that allows the expression of thoughts, ideas, and feelings. The brain processes language in both hemispheres.
Language formation and comprehension take place in the dominant hemisphere. The dominant hemisphere is responsible for understanding the meaning of spoken, written, or sign language, as well as the ability to communicate. For most people, the left hemisphere is the dominant one. The right hemisphere, then, gives tone and emotional context to the...
Language formation and comprehension take place in the dominant hemisphere. The dominant hemisphere is responsible for understanding the meaning of spoken, written, or sign language, as well as the ability to communicate. For most people, the left hemisphere is the dominant one. The right hemisphere, then, gives tone and emotional context to the...
01:22Language Development
Children master language quickly and with relative ease, supported by both biological predisposition and reinforcement. B. F. Skinner (1957) proposed that language is learned through reinforcement, while Noam Chomsky (1965) argued that language acquisition mechanisms are biologically determined.
The critical period for language acquisition suggests that the ability to acquire language is at its peak early in life. As people age, this proficiency decreases. Language development begins very...
The critical period for language acquisition suggests that the ability to acquire language is at its peak early in life. As people age, this proficiency decreases. Language development begins very...
01:27Language and Cognition
Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
01:28Lateralization
Brain lateralization refers to the division of mental processes and functions between the two hemispheres of the brain, a phenomenon that optimizes neural efficiency and underpins complex abilities in humans. This specialization allows each hemisphere to perform tasks where it has a comparative advantage, facilitating more refined cognitive capabilities across different domains.
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:19Autism Spectrum Disorder
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.
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.