Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade

Alfieri, Paolo; Cesarini, Laura; Mallardi, Maria; Piccini, Giorgia; Caciolo, Cristina; Leoni, Chiara; Mirante, Nadia; Pantaleoni, Francesca; Digilio, María Cristina; Gambardella, Maria Luigia; Tartaglia, Marco; Vicari, Stefano; Mercuri, E.; Zampino, Giuseppe

doi:10.1007/s10519-011-9446-5

Cited by 27 publications

(41 citation statements)

References 30 publications

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“…Furthermore, within the verbal tasks, a significant advantage was seen in delayed recognition memory relative to delayed recall memory. These results are consistent with the finding from Alfieri et al (2011b) that verbal free recall tasks that depend heavily on prefrontal-hippocampal networks are more challenging for children with NS than recognition tasks that rely on more distributed temporal cortical regions. Interestingly, Wingbermühle et al (2012b) did not find significant deficits among adults with NS as compared to a comparison group with respect to verbal delayed recall on a list-learning task or delayed visual recall as measured by the Rey-Osterreith Complex Figure Test (Rey 1941).…”

Section: Memorysupporting

confidence: 91%

“…Alfieri et al (2011b) reported that 50 % of a cohort of children with genetically confirmed NS demonstrated impaired performance on a verbal free recall task, whereas only 5-20 % demonstrated impairments on visual and spatial recognition memory tasks. Although results of this study suggest that some aspects of memory may be disproportionately affected in NS, it is unclear from this data whether deficits on the verbal task were due to the retrieval (i.e., free recall) demands or the verbal nature of the task.…”

Section: Memorymentioning

confidence: 99%

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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: Memorysupporting

confidence: 91%

Section: Memorymentioning

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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“…44 Results of a survey 45 show that many patients with Noonan syndrome have impaired or below average performance in a delayed verbal free recall memory task, and that delayed visual recognition memory is recurrently compromised.…”

Section: Organ Dysfunctionmentioning

confidence: 99%

Noonan syndrome

et al. 2013

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Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

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“…, , ; Alfieri et al. ,b). It should be noted, however, that most studies in children with NS did not include controls matched on age, sex, and intelligence level.…”

Section: Introductionmentioning

confidence: 99%

Intellectual development in Noonan syndrome: a longitudinal study

et al. 2016

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IntroductionAlthough cognitive impairments in adults with Noonan syndrome seem to be limited to a low‐average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, attention, and executive functioning. This longitudinal study is the first to investigate intellectual development in a group of individuals with Noonan syndrome.MethodsSixteen patients with Noonan syndrome underwent intelligence assessment both in childhood and in adulthood, using Wechsler's intelligence scales. IQ scores and Wechsler standard scores achieved in childhood and adulthood were compared. Subsequently, verbal and performance IQ in childhood were used as predictors for adult IQ and index scores.ResultsCompared with childhood scores, adult full‐scale IQ and performance IQ significantly increased. Adult performance IQ was higher than verbal IQ. Childhood performance IQ and verbal IQ together predicted all adult IQ and index scores, except for the processing speed index.DiscussionChildhood IQ was a significant predictor of adult intelligence in patients with Noonan syndrome. Performance IQ advanced to a normal level in adulthood, while verbal IQ did not develop proportionately, resulting in a discrepancy between adult performance IQ and verbal IQ. This finding could suggest a delay in the development of executive functioning in patients with Noonan syndrome, which seems to be outgrown in adulthood.

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Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade

Cited by 27 publications

References 30 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

Noonan syndrome

Intellectual development in Noonan syndrome: a longitudinal study

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