ASD ACTUAL EXAM PAPER 2026
COMPLETE QUESTIONS AND SOLUTIONS
CERTIFICATION READY
◉ How does loss of FMRP affect protein expression?
Answer: It removes the normal translational brake, leading to
abnormal protein expression.
◉ What happens to glutamatergic synapses in Fragile X syndrome?
Answer: They become weaker due to excessive AMPA receptor
endocytosis.
◉ Why are symptoms often milder in females with Fragile X
syndrome?
Answer: Females have two X chromosomes, allowing one to
compensate for the damaged one.
◉ What gene is mutated in Rett syndrome?
Answer: MeCP2 gene on the X chromosome.
◉ Why is Rett syndrome primarily seen in girls?
, Answer: Males usually do not survive severe loss of MeCP2 due to
having only one X chromosome.
◉ List some symptoms of Rett syndrome.
Answer: Loss of purposeful hand movements, speech, balance,
coordination, and walking ability.
◉ What is a major molecular role of MeCP2?
Answer: It regulates transcription and chromatin organization.
◉ What therapeutic example was mentioned for Rett syndrome?
Answer: Trofinetide, an IGF-1 analog that may improve symptoms.
◉ What two broad categories of genes are enriched for ASD-related
mutations?
Answer: Genes encoding glutamatergic synapse proteins and genes
encoding transcriptional regulators.
◉ What is a common misconception about synapses in ASD?
Answer: That ASD is always associated with too many synapses.
◉ Can ASD-related mutations cause too few synapses?
COMPLETE QUESTIONS AND SOLUTIONS
CERTIFICATION READY
◉ How does loss of FMRP affect protein expression?
Answer: It removes the normal translational brake, leading to
abnormal protein expression.
◉ What happens to glutamatergic synapses in Fragile X syndrome?
Answer: They become weaker due to excessive AMPA receptor
endocytosis.
◉ Why are symptoms often milder in females with Fragile X
syndrome?
Answer: Females have two X chromosomes, allowing one to
compensate for the damaged one.
◉ What gene is mutated in Rett syndrome?
Answer: MeCP2 gene on the X chromosome.
◉ Why is Rett syndrome primarily seen in girls?
, Answer: Males usually do not survive severe loss of MeCP2 due to
having only one X chromosome.
◉ List some symptoms of Rett syndrome.
Answer: Loss of purposeful hand movements, speech, balance,
coordination, and walking ability.
◉ What is a major molecular role of MeCP2?
Answer: It regulates transcription and chromatin organization.
◉ What therapeutic example was mentioned for Rett syndrome?
Answer: Trofinetide, an IGF-1 analog that may improve symptoms.
◉ What two broad categories of genes are enriched for ASD-related
mutations?
Answer: Genes encoding glutamatergic synapse proteins and genes
encoding transcriptional regulators.
◉ What is a common misconception about synapses in ASD?
Answer: That ASD is always associated with too many synapses.
◉ Can ASD-related mutations cause too few synapses?
