Behavioral Profile in RASopathies

Alfieri, Paolo; Piccini, Giorgia; Caciolo, Cristina; Perrino, Francesca; Gambardella, Maria Luigia; Mallardi, Maria; Cesarini, Laura; Leoni, Chiara; Leone, Daniela; Fossati, C; Selicorni, Angelo; Digilio, María Cristina; Tartaglia, Marco; Mercuri, Eugenio; Zampino, Giuseppe; Vicari, Stefano

doi:10.1002/ajmg.a.36374

Cited by 76 publications

(103 citation statements)

References 42 publications

(44 reference statements)

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“…In contrast to these findings, studies using standardized symptoms checklists have not found a significant difference in anxiety and depression symptoms in adults with NS compared with unaffected adults (Wingbermühle et al 2012a). Similarly, most studies have found no differences in parent-reported levels of depression/anxiety symptoms between children with NS compared with typically developing children (Pierpont et al 2015;Wood et al 1995;van der Burgt et al 1999), although Alfieri et al (2014) reported a 32 % rate of clinically elevated depression/anxiety symptoms in their sample of children with NS. In terms of self-concept, Lee et al (2005) administered the Piers-Harris Children's SelfConcept Scale (Piers and Harris 1989) to assess self-esteem in 30 children with NS.…”

Section: Psychopathology/mental Healthmentioning

confidence: 84%

“…Earlier studies using parent report measures such as the Child Behavior Checklist have noted children with NS showed greater difficulties related to attention and hyperactivity relative to comparison groups or normative data, although statistically significant differences were not always reported (van der Burgt et al 1999;Wood et al 1995;D. A. Lee et al 2005;Sarimski 2000;Alfieri et al 2014). More recently, Pierpont et al (2015) compared a cohort of children with NS with a sibling comparison group on a range of measures examining attention skills.…”

Section: Attention and Executive Functioningmentioning

confidence: 91%

“…Aside from attention problems, another area in which clinically significant difficulties are consistently found on standardized behavioral checklists is social skills competence (Pierpont et al 2015;Alfieri et al 2014;Wood et al 1995;van der Burgt et al 1999). Individuals with NS have been described as having tendencies toward social immaturity, reduced interaction with peers, and diminished insight in social situations (Wingbermühle et al 2009;Sarimski 2000), although many of these characteristics have not been examined in depth.…”

Section: Social Functioningmentioning

confidence: 99%

“…One study by Alfieri et al (2014) analyzed data from standardized parent report checklist measures, including the Social Communication Questionnaire (SCQ; Rutter et al 2003) and the Modified Checklist for Autism in Toddlers (M-CHAT; Robins et al 2001). An elevated level of ASD symptoms (relative to a conventional cutoff score maximizing sensitivity and specificity to ASD) was reported among 12 % of children with NS and 25 % of children with NSML.…”

Section: Autism Spectrum Disordermentioning

confidence: 99%

“…In terms of behavioral symptoms, parents of children with NS reported more significant attention-seeking behaviors compared to the general population, which may result in mildly higher rates of parenting stress related to these behaviors (Sarimski 2000). One study reported a 34 % rate of clinically significant externalizing symptoms in a sample of children with NS (Alfieri et al 2014), but the threshold for significance was not described and scores were not compared to a control sample. In contrast, other studies have not found that aggressive behaviors and other externalizing symptoms are observed more frequently in individuals with NS than in typically developing individuals (Pierpont et al 2015;Wingbermühle et al 2009).…”

Section: Psychopathology/mental Healthmentioning

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: Psychopathology/mental Healthmentioning

confidence: 84%

Section: Attention and Executive Functioningmentioning

confidence: 91%

Section: Social Functioningmentioning

confidence: 99%

Section: Autism Spectrum Disordermentioning

confidence: 99%

Section: Psychopathology/mental Healthmentioning

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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Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

Roelofs

Wingbermühle

Freriks

et al. 2015

American J of Med Genetics Pt A

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Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans.

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Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome

Cabrera

Morel

Tartaglia

2016

American J of Med Genetics Pt A

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Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS. There is tremendous phenotypic heterogeneity in patients with CFCS and so confirmation of diagnosis requires genetic testing. Neurologic and/or cognitive symptoms are present in almost all CFCS individuals. Little is known about cognitive function in older patients with CFCS. In this report, we present the cognitive, neuropsychiatric, and imaging findings of a patient diagnosed with CFCS who after having remained stable developed progressive cognitive/behavioral and motor decline.

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Behavioral Profile in RASopathies

Cited by 76 publications

References 42 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

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome

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