Systematic review of MRI findings in children with developmental delay or cognitive impairment

Murias, Kara; Moir, Andrea; Myers, Kenneth A.; Liu, Irene; Wei, Xing‐Chang

doi:10.1016/j.braindev.2017.04.006

Cited by 20 publications

(24 citation statements)

References 39 publications

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“…16 All major recent studies do not recommend routine brain MRI in ID or developmental delay in the absence of other symptoms or comorbidities. 7,14,17 In a clinical report from the American Academy of Pediatrics, the authors stated that brain MRI should be done if patients have microcephaly, macrocephaly, or abnormal findings on neurologic examination. 17 An etiology has been found more often in severe than in the mild form of ID by neuroimaging.…”

Section: Discussionmentioning

confidence: 99%

“…12 Based on the literature, routine imaging studies are rarely suggested to be useful when identifying the etiology of ID or developmental delay. 7,8,10,12,13 In Finland, every child with ID undergoes MRI at the time of diagnosis regardless of the grade of ID or comorbidities. However, based on the earlier literature, it is known that significant MRI findings are not found in most cases with mild ID.…”

Section: Introductionmentioning

confidence: 99%

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Is Brain MRI Needed in Diagnostic Evaluation of Mild Intellectual Disability?

et al. 2020

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Aim The purpose of our study was to suggest an imaging strategy and guidelines for the selection of the children with mild intellectual disability (ID) for magnetic resonance imaging (MRI), to avoid unnecessary imaging. Methods The brain MRIs and patient reports of 471 children were reviewed for the imaging findings and ID severity. The correlation between the clinical and brain MRI findings was analyzed in the 305 children with mild ID. Results Thirty-eight (12.5%) of the children with mild ID had significant abnormal brain MRI findings. Thirty-five of these had other neurological symptoms or diseases in addition to ID, which were an indication for brain MRI. In the logistic regression analysis, seizures (in patients without an epilepsy diagnosis), epilepsy, movement disorders, dysmorphia, encephalitis, traumatic brain injury, and abnormal head size were statistically significant symptoms or comorbidities associated with abnormal MRI findings. Only three children (1.0%) with mild ID had a significant MRI finding without any other clinical symptoms or disease. Conclusion Routine MRI in children with mild ID without specific neurological symptoms, dysmorphic features, or related diseases is not suggested for revealing an etiology of mild ID. Since children with ID usually need to be sedated for MRI, routine imaging in the diagnostic evaluation of mild ID should be carefully considered. Clinical examination, other symptoms, and related diseases should be carefully assessed to decide the need for MRI.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Is Brain MRI Needed in Diagnostic Evaluation of Mild Intellectual Disability?

et al. 2020

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“…Limited evidence is available that the cerebral cortex and the hippocampus of ID children have structural differences. Neuroimaging data suggest differences with limited diagnostic and research value [ 79 , 80 , 81 ]. Conversely, genetically modified mice are currently the key in vivo approach to investigate the role of gene mutations in ID and related phenotypes, for determining the basic mechanisms, the neurobiological substrates and the neural basis of cognitive function as well as for testing the efficacy of potential therapeutic drugs [ 82 ].…”

Section: Rho Gtpases and Intellectual Disabilitymentioning

confidence: 99%

Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities

Zamboni

Jones

Umbach

et al. 2018

IJMS

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Rho-class small GTPases are implicated in basic cellular processes at nearly all brain developmental steps, from neurogenesis and migration to axon guidance and synaptic plasticity. GTPases are key signal transducing enzymes that link extracellular cues to the neuronal responses required for the construction of neuronal networks, as well as for synaptic function and plasticity. Rho GTPases are highly regulated by a complex set of activating (GEFs) and inactivating (GAPs) partners, via protein:protein interactions (PPI). Misregulated RhoA, Rac1/Rac3 and cdc42 activity has been linked with intellectual disability (ID) and other neurodevelopmental conditions that comprise ID. All genetic evidences indicate that in these disorders the RhoA pathway is hyperactive while the Rac1 and cdc42 pathways are consistently hypoactive. Adopting cultured neurons for in vitro testing and specific animal models of ID for in vivo examination, the endophenotypes associated with these conditions are emerging and include altered neuronal networking, unbalanced excitation/inhibition and altered synaptic activity and plasticity. As we approach a clearer definition of these phenotype(s) and the role of hyper- and hypo-active GTPases in the construction of neuronal networks, there is an increasing possibility that selective inhibitors and activators might be designed via PPI, or identified by screening, that counteract the misregulation of small GTPases and result in alleviation of the cognitive condition. Here we review all knowledge in support of this possibility.

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“…(h) Ressonância Magnética Nuclear (RMN) de encéfalo. Não há consenso sobre o papel dos exames de neuroimagem na investigação etiológica da DI 2,51 . Estima-se que cerca de 30% das crianças com DI ou atraso global de desenvolvimento tenham achados anormais na RMN de encéfalo; entretanto, somente em uma pequena fração dessas crianças a RMN leva a um diagnóstico etiológico.…”

Section: (E) Análise Cromossômica Por Microarrayunclassified

“…A RMN é defi nitivamente recomendada como exame de primeira linha quando existem alterações no exame neurológico. Nas demais situações, a RMN pode ser considerada um exame de segunda linha 2,51 . Novas técnicas de neuroimagem, como a Espectroscopia por Ressonância Magnética (ERM), podem ser particularmente úteis para diagnosticar EIM associados à DI, como os defeitos do metabolismo da creatina 16 .…”

Section: (E) Análise Cromossômica Por Microarrayunclassified

Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento

Melo

Pilotto

Rodrigues

et al. 2018

SDH

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Objetivos: Examinar estudos sobre diagnóstico etiológico nas situações de deficiência intelectual ou atraso global do desenvolvimento, racionalizando o processo de investigação causal em um fluxograma aplicável na prática clínica. Método: Revisão não sistemática da literatura nas bases de dados PubMed e SciELO, sem restrições de tempo ou idioma, com seleção de artigos relevantes, análise crítica e síntese dos resultados. Resultados: Causas ambientais de deficiência devem ser consideradas na história clínica, identificando-se fatores de risco pré, peri e pós-natais. A história familiar e os exames físico, dismorfológico e neurológico podem sugerir a etiologia e orientar a investigação. Para investigar causas genéticas, a análise cromossômica por microarray é indicada como teste de primeira linha, associada à pesquisa de erros inatos do metabolismo e à testagem para síndrome do X-frágil. Exames de neuroimagem são importantes em pacientes selecionados, assim como a investigação de outros genes localizados no cromossomo X. Há uma discussão emergente sobre o papel do sequenciamento completo do exoma nessa investigação. Conclusões: A frequência de definição etiológica tem aumentado com a incorporação de novas tecnologias genéticas na investigação da deficiência intelectual. Afora a investigação etiológica, a abordagem clínica deve considerar diferentes demandas e permitir a construção de um plano terapêutico individualizado.

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Systematic review of MRI findings in children with developmental delay or cognitive impairment

Cited by 20 publications

References 39 publications

Is Brain MRI Needed in Diagnostic Evaluation of Mild Intellectual Disability?

Is Brain MRI Needed in Diagnostic Evaluation of Mild Intellectual Disability?

Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities

Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento

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