Prefrontal Executive Function Syndromes in Children

Powell, Kristin B.; Voeller, Kytja K. S.

doi:10.1177/08830738040190100801

Cited by 93 publications

(67 citation statements)

References 77 publications

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“…Some research has indicated that Ras proteins (which are abnormally activated in these syndromes) may regulate interneuronal activity in prefrontal and striatal networks (Shilyansky et al 2010a). These regions of the brain are known to be critical for a number of higher-order cognitive processes such as working memory, response inhibition, and cognitive flexibility (Powell and Voeller 2004). Working memory abilities are known to be an area of weakness for children with other RASopathies, most notably NF1 (Rowbotham et al 2009;Shilyansky et al 2010a).…”

Section: Attention and Executive Functioningmentioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS is caused by gene mutations in a cellular signaling pathway that is essential for typical growth and development. Research in the past few decades has revealed that individuals with NS have highly variable neurocognitive and behavioral outcomes. To a certain extent, variability in cognitive functioning depends on the particular gene where a mutation is found; additionally, factors related to medical severity and environmental effects contribute substantially to outcomes. This article contains a systematic review of research on neuropsychological features of NS, including cognition, motor development, language, memory, attention, visual perception, adaptive behavior, social skills, and mental health concerns. Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. Suggested considerations for assessment of individuals with NS are provided. The paper concludes with recommendations for educational and therapeutic interventions, as well as suggestions for future research directions.

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Section: Attention and Executive Functioningmentioning

confidence: 99%

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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“…Executive functions, including working memory, are thought to depend on common corticostriatal networks (8)(9)(10)(11). Therefore, our experiments focused on frontal corticostriatal circuitry, with an emphasis on the dorsolateral prefrontal cortex (DLPFC) in humans, thought to be critical for working memory (12), and its functionally analogous structure in rodents, the medial prefrontal cortex (mPFC) (13,14).…”

mentioning

confidence: 99%

Neurofibromin regulates corticostriatal inhibitory networks during working memory performance

Shilyansky

Karlsgodt

Cummings

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

145

150

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Neurofibromatosis type I (NF1) is one of the most common singlegene causes of learning disabilities. Here, we use behavioral working memory probes and electrophysiological studies in a mouse model of NF1 (Nf1 heterozygous null mutants; Nf1 +/− ) to demonstrate that (i) Neurofibromin regulates prefrontal and striatal inhibitory networks, specifically activity-dependent GABA release and (ii) is required for working memory performance, with inhibitiondependent working memory deficits seen in Nf1 +/− mice. We find that increased inhibition in medial prefrontal cortex (mPFC) is sufficient to alter persistent activity in a biophysical model of an mPFC microcircuit, suggesting a possible mechanism for Nf1 +/− working memory deficits. Accordingly, working memory assays applied during functional MRI (fMRI) studies in human subjects with NF1 reveal hypoactivation of corticostriatal networks, which is associated with impaired working memory performance. Collectively, these integrative mouse and human studies reveal molecular and cellular mechanisms contributing to working memory deficits in NF1.GABA | Ras | prefrontal cortex | learning disability | neurofibromatosis type I N eurofibromatosis type 1 (NF1) is a valuable model for understanding mechanisms of learning disabilities (1). NF1 is a common genetic disorder (incidence 1:3,000) that results from mutations in a single gene (Nf1) that encodes the neurofibromin protein (2, 3). Specific deficits in the domains of visuospatial and executive functions are among the most common cognitive deficits associated with this syndrome (1,4,5). Previous mechanistic studies in a mouse model of NF1 (Nf1 heterozygous null mutants or Nf1 +/− ) demonstrated that neurofibromin modulates Rasdependent GABA release in the hippocampus, which in turn modulates long-term potentiation (LTP) and hippocampaldependent learning (6, 7). However, the mechanisms underlying frontal executive dysfunction in NF1, including prominent working memory deficits (5), are unknown. Therefore, to investigate mechanisms underlying working memory deficits associated with the NF1 mutation we carried out parallel experiments in mice and humans.Working memory is a cognitive construct involving the ability to hold and update information transiently in mind in the service of higher-order cognitive activities. Executive functions, including working memory, are thought to depend on common corticostriatal networks (8-11). Therefore, our experiments focused on frontal corticostriatal circuitry, with an emphasis on the dorsolateral prefrontal cortex (DLPFC) in humans, thought to be critical for working memory (12), and its functionally analogous structure in rodents, the medial prefrontal cortex (mPFC) (13,14).Here, we report Ras-dependent increases in GABA release in the mPFC and striatum of the Nf1 +/− mouse model. Increased GABAergic inhibition is likely to be responsible for the working memory deficits that we found in the Nf1 +/− mice because these deficits could be reversed with a drug that decreased inhibition. Further,...

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“…Un aspecto central en las diferentes definiciones que se encuentran se refiere a la distinción entre la funciones propiamente cognitivas, por una parte, y las funciones de segundo orden, que son las responsables de proporcionar una organización integral a las primeras. Los diferentes recursos cognitivos y emocionales se mantienen entonces controlados e integrados por las funciones ejecutivas (Cypel, 2006;Goldberg, 2002;Lezak et al, 2004;Powell y Voeller, 2004;Santos, 2004; Ylikoski y Hänninen, 2003 citados en Corso et al, 2013). Por lo tanto, estos procesos no sólo están presentes durante el procesamiento cognitivo, sino también en las decisiones personales y las interacciones sociales con la intervención, entre otros aspectos, del deseo y la motivación.…”

Section: Importancia De La Metacognición En Los Aprendizajes De Educaunclassified

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Elisondo

Barrera

Rigo

et al. 2016

REDU

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Prefrontal Executive Function Syndromes in Children

Cited by 93 publications

References 77 publications

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Neurofibromin regulates corticostriatal inhibitory networks during working memory performance

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