Intellectual Disability Disorder
Psychiatry · Topic 11
Source: NMC CBME Curriculum 2024 · Volume II · Psychiatry · Topic 11 · combined PDF page 353
Practice questions
- In the supplied review, which FMR1 repeat finding is associated with transcriptional silencing and absence of FMRP in Fragile X syndrome?
- Which molecular consequence of FMR1 silencing is described as central to Fragile X syndrome in the supplied review?
- Which function of FMRP is described in the supplied Fragile X review?
- A researcher proposes restoring expression of a silenced FMR1 gene as a targeted strategy for Fragile X syndrome. How should this proposal be characterized based on the supplied review?
- In the 2025 randomized, double-blind Fragile X trial supplied, which outcome was the primary endpoint?
- In the supplied metformin trial in children with Fragile X syndrome, which statement best reflects the result for the primary outcome?
- Which metformin-trial outcome favored treatment with a statistically significant between-group difference in the supplied report?
- Which conclusion is best supported by the supplied 6-month metformin trial in Fragile X syndrome?
- Which limitation of the supplied metformin trial most directly restricts conclusions about long-term benefit in Fragile X syndrome?
- A clinician is reviewing the metformin trial’s results and notes reported improvements in hyperactivity and sleep. Which interpretation is most appropriate?
- KDM5C variants are associated in the supplied review with which intellectual disability disorder?
- What protein function does KDM5C have, according to the supplied Claes-Jensen syndrome review?
- Which statement best reflects the state of knowledge about how KDM5C variants cause cognitive dysfunction in Claes-Jensen syndrome?
- In the supplied review of neuronal chromatin remodeling, which developmental process is linked to nBAF activity?
- Which adult neuronal processes are linked to nBAF in the supplied chromatin-remodeling review?
- Exome sequencing identifies a variant in a subunit of a chromatin-remodeling complex in a patient with intellectual disability. Which interpretation is consistent with the supplied review?
- PHF6-related disease mechanisms in the supplied review are most directly associated with disruption of which process?
- Which molecular partner of PHF6 is specifically linked in the supplied review to neuronal migration?
- According to the supplied PHF6 review, what has been associated with deregulated PHF6 function during neuronal migration?
- Which microRNA is identified in the supplied review as a regulator of PHF6 mRNA in the cerebral cortex?
- The supplied report associates Coffin-Siris syndrome with mutations in components of which complex?
- Which gene carried the de novo heterozygous missense variant in the Coffin-Siris case described in the supplied report?
- What does the supplied Coffin-Siris report indicate about the relationship between genotype and phenotype?
- A child with a reported Coffin-Siris-associated SMARCA4 variant has additional clinical features recognized on follow-up. Which interpretation best matches the supplied case report?
- Which statement about Rett syndrome is supported by the supplied study?
- Which description most accurately characterizes the clinical patient data in the supplied mirtazapine study in Rett syndrome?
- Which finding was reported in adult heterozygous Mecp2 female mice treated with mirtazapine in the supplied study?
- What is the most appropriate interpretation of the supplied mirtazapine findings in Rett syndrome?