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Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
Published on: September 6, 2024
A novel X-linked disorder with developmental delay and autistic features.
Namik Kaya1, Dilek Colak, Albandary Albakheet
1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. nkaya@kfshrc.edu.sa
Annals of Neurology
|January 4, 2012
Summary
A novel Xq12-q13.3 duplication is linked to global developmental delay and autism. This genomic alteration may cause disease through increased gene dosage, affecting key developmental pathways.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Genomic Instability
Background:
- Genomic duplications are implicated in various human diseases, often involving dosage-sensitive genes.
- Understanding novel genomic disorders is crucial for identifying underlying mechanisms and therapeutic targets.
- Phenotypic consequences can include global developmental delay, autism, psychosis, and anorexia nervosa.
Related Concept Videos
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.
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:30Oppositional Defiant Disorder
A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...
Diagnostic Criteria and...