Fragile X Syndrome Concepts Assessment

The video provides an overview of Fragile X Syndrome, a genetic disorder causing intellectual disability and behavioral challenges. It explains the genetic mutation in the FMR1 gene leading to the absence of FMRP, affecting brain function. The video discusses the molecular mechanisms, neuronal insights, and synaptic plasticity alterations. It highlights the disrupted excitatory-inhibitory balance in neuronal circuits, leading to seizures. Diagnosis involves genetic testing, and management includes therapies and medications, though no cure exists.

What is the primary reason Fragile X Syndrome is more common in males?

• Males have two X chromosomes.

• Females have a protective Y chromosome.

• Females have a higher mutation rate.

• Males have only one X chromosome.

Which of the following is a common physical characteristic of individuals with Fragile X Syndrome?

• Short stature

• Flat nose

• Long face

• Small ears

What is the role of the FMR1 gene in Fragile X Syndrome?

• It produces a protein that causes intellectual disability.

• It prevents the occurrence of CGG repeats.

• It is responsible for the physical characteristics of the syndrome.

• It regulates the production of a protein important for brain activity.

What happens when there are more than 200 CGG repeats in the FMR1 gene?

• The gene becomes more active.

• The protein produced is nonfunctional.

• The gene is deleted.

• The protein production increases.

How does the Fragile X mental retardation protein affect synaptic plasticity?

• It strengthens synaptic connections.

• It inhibits mRNA translation at synapses.

• It reduces dendritic arborization.

• It disrupts synaptic formation.

What is a consequence of disrupted excitatory-inhibitory balance in Fragile X Syndrome?

• Improved cognitive function

• Enhanced social interaction

• Increased susceptibility to seizures

• Decreased brain size

Which brain structure is often enlarged in individuals with Fragile X Syndrome?

• Thalamus

• Hippocampus

• Cerebellum

• Basal ganglia

What is the inheritance pattern of Fragile X Syndrome?

• Autosomal recessive

• Autosomal dominant

• Y-linked

• X-linked

What is a current management strategy for Fragile X Syndrome?

• Chemotherapy

• Speech and language therapy

• Surgical intervention

• Gene therapy

Why is genetic testing important in diagnosing Fragile X Syndrome?

• To assess social behavior

• To identify the presence of a Y chromosome

• To count the number of CGG repeats

• To measure brain size