Back to search

Article

Advancing the understanding of cognitive phenotypes in Shwachman Diamond syndrome through a diagnostic taxonomy: the International Classification of Cognitive Disorders in SDS (IC-CoD-SDS)

2025-10-20

Abstract excerpt

<title>Abstract</title> <p> Purpose Shwachman Diamond syndrome (SDS) is a multisystemic autosomal recessive ribosomal disease (OMIM#260400) principally caused by biallelic variants in the <italic>SBDS</italic> gene. Although neuropsychological issues are prevalent, advancements in our understanding of associated cognitive phenotypes are impeded by the rarity of the disease and substantial heterogeneity patient...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
e9de1fda-8b64-525f-8eb9-720246917743
DOI
10.21203/rs.3.rs-7520736/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Advancing the understanding of cognitive phenotypes in Shwachman Diamond syndrome through a diagnostic taxonomy: the International Classification of Cognitive Disorders in SDS (IC-CoD-SDS)DOI 10.21203/rs.3.rs-7520736/v1
The International Classification of Cognitive Disorders in Epilepsy (IC-CoDE) Portal: An Open Source Resource for Neuropsychological Research in EpilepsySemantic proximity
Cognitive phenotypes in adults with temporal lobe epilepsy from South Africa - A contribution to the international classification of cognitive disorders in epilepsy (IC-CoDE).Semantic proximity
The cognitive phenotype of juvenile absence epilepsy and its heritability: An investigation of patients and unaffected siblingsSemantic proximity
Defining cognitive impairment in temporal lobe epilepsy with IC-CoDE phenotypes: A comparison of normative and ipsative approaches.Semantic proximity
A proposed new taxonomy of cognitive phenotypes in multiple sclerosis: The International Classification of Cognitive Disorders in MS (IC-CoDiMS).Semantic proximity
Comparing normative and ipsative methods of IC-CoDE phenotype classification in frontal lobe epilepsy.Semantic proximity
Cross-cultural application of the International Classification of Cognitive Disorders in Epilepsy (IC-CoDE): Cognitive phenotypes in people with temporal lobe epilepsy in India.Semantic proximity
Shared and distinct genetic influences between cognitive domains and psychiatric disorder risk based on genome-wide dataSemantic proximity
[Neuropsychological phenotypes of genetic diseases].Semantic proximity
Cognitive test performance in CLN3 Disease is associated with the CLN3 Staging System (CLN3SS)Semantic proximity
Cognitive phenotypes in frontal lobe epilepsy.Semantic proximity
Cognitive performance in functional neurological disorder: A systematic review and meta-analysisSemantic proximity
Select a neighboring publication to make it the new centre.