ArticleJournal of clinical medicine2022
Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.
Article in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Article
- Effectiveness of cognitive training on Lamb-Shaffer syndrome: a case report.Dementia & neuropsychologia · 2026Article
- Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.Molecular autism · 2025Article
- Precision medicine in neuropsychiatric disorders: Still a long way to go.Developmental medicine and child neurology · 2025Article
- Executive and Social Functioning in Children and Adolescents With Noonan Syndromes: Cognition and Behavior.JAACAP open · 2025Article
- Noonan syndrome withTranslational pediatrics · 2025Article
- Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- Experience-dependent MAPK/ERK signaling in glia regulates critical period remodeling of synaptic glomeruli.Cellular signalling · 2024Article
- PTPN11/Corkscrew Activates Local Presynaptic Mapk Signaling to Regulate Synapsin, Synaptic Vesicle Pools, and Neurotransmission Strength, with a Dual Requirement in Neurons and Glia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.American journal of medical genetics. Part A · 2024Article
- Molecular Determinants of Neurocognitive Deficits in Glioma: Based on 2021 WHO Classification.Journal of molecular neuroscience : MN · 2024Article
- Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.Frontiers in molecular neuroscience · 2024Review
- Cognition and behavior in adults with neurofibromatosis type 1.Frontiers in neurology · 2024Article
- Article
- The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.Orphanet journal of rare diseases · 2023Article
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Authors and funding
9 authors.
Funding
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Abstract
Cognitive difficulties are argued to be common in patients with Noonan syndrome spectrum disorders (NSSDs), but findings are based on studies in which patients with variants in PTPN11 (prevalence ~50%) were overrepresented. The current study, using a structured clinical approach, describes the cognitive phenotype and psychopathology of 100 patients (aged 6 to 61 years) with nine different gene variants in the Ras/MAPK pathway underlying NSSDs (PTPN11n = 61, PTPN11 Noonan syndrome with multiple lentigines n = 3, SOS1n = 14, KRASn = 7, LZTR1n = 5, RAF1n = 4, SHOC2n = 2, CBLn = 2, SOS2n = 2). After weighted assessment and bootstrapping of the results of individual neuropsychological assessments and measures of psychopathology, cognitive performances in most variant groups were within the ranges of expectation. IQs were significantly lower in patients with variants in PTPN11, KRAS, RAF1, and SHOC2, but no specific cognitive impairments were found. The performances of younger participants (<16 years of age) did not differ from those of adults. Alexithymia and internalizing problems were more frequent in patients with variants in PTPN11 and SOS1, while PTPN11 patients also showed higher levels of externalizing problems. These results stress the need to take intelligence into account when interpreting lower cognitive performances in individual neuropsychological assessments, which is crucial for an adequate understanding and guidance of patients with NSSDs.
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