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

Roelofs, R.L.; Wingbermühle, Ellen; Freriks, K.; Verhaak, Chris M.; Kessels, Roy P. C.; Egger, J.I.M.

doi:10.1002/ajmg.a.37006

Cited by 14 publications

(14 citation statements)

References 59 publications

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“…The NS group scored poorly on the scales measuring coherence, appropriate initiation, use of context and interests. This finding is consistent with earlier studies reporting related problems, such as social interaction, social cognition and alexithymia, making it problematic to meet the needs of the conversational partner, make correct inferences and give socially appropriate responses (Roelofs et al, 2015; Verhoeven et al, 2003; Wingbermühle et al, 2012). The results of this study revealed various language profiles in children with NS, including PLI profiles, SLI profiles and generally weak linguistic profiles.…”

Section: Discussionsupporting

confidence: 91%

“…According to Pierpont (2015), social aspects of language might be affected in NS, and it is not clear whether the prevalence of autistic features is a consequence of intellectual, communicatory or sensory impairments typical for NS. Other explanations of the autistic-like behaviour are deficits in social interaction (reciprocity) or social cognition, or alexithymia (problems talking about emotions) (Roelofs et al, 2015; Verhoeven et al, 2003; Wingbermühle et al, 2012). Pierpont (2015) asks for studies assessing pragmatic language and social communication in individuals with NS.…”

Section: Introductionmentioning

confidence: 99%

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Pragmatic language impairment in children with Noonan syndrome

Selås

Helland

2016

Clinical Linguistics & Phonetics

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Noonan syndrome (NS) is a disorder causing symptoms like short stature, characteristic facial features, congenital heart disease, possible mental retardation, and pragmatic difficulties. This study describes the pragmatic skills in NS and discusses the linguistic profile of 17 informants aged 6–15 years, by comparing the participants’ scores on the Children’s Communication Checklist, 2nd edition (CCC-2) (Bishop, 2011), with a group of typically developing children of matching age and gender. Language impairments were common in the NS group. The results show that children and adolescents with NS do not have one coherent pragmatic profile. However, 76.5% of the participants displayed communication impairments, and pragmatic skills were significantly lower than in the control group.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Pragmatic language impairment in children with Noonan syndrome

Selås

Helland

2016

Clinical Linguistics & Phonetics

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“…In addition to struggling to recognize emotional faces, girls with TS also demonstrate alexithymia, the inability to name and describe emotions (Roelofs et al, 2015). Poor emotion processing negatively impacts empathic accuracy, given the considerable overlap in self and other processing in this domain (Ochsner et al, 2008;.…”

Section: Discussionmentioning

confidence: 99%

“…Specifically, memory for faces , eye gaze (Elgar et al, 2002;Lawrence et al, 2003;Mazzola et al, 2006) and affect recognition (Anaki et al, 2016;Good et al, 2003;Hong et al, 2014;Lawrence et al, 2003b;Mazzola et al, 2006;Roelofs et al, 2015;Ross et al, 2004Ross et al, , 2002 deficits were found. For affect recognition tasks requiring participants to identify the emotions associated with static pictures of faces, girls with TS demonstrate impaired recognition for negative emotions, yet intact recognition for positive emotions (Hong et al, 2014;Lawrence et al, 2003b;Mazzola et al, 2006;McCauley et al, 1987;Skuse, 2005).…”

Section: Introductionmentioning

confidence: 98%

Empathic accuracy in adolescent girls with Turner Syndrome

Klabunde¹,

Piccirilli²,

Bruno³

et al. 2020

Preprint

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Objective: Girls and women with Turner Syndrome (TS) demonstrate social challenges and difficulties identifying negative emotions, specifically fear. Previous studies suggest that social deficits in TS could be associated with theory of mind (TOM) difficulties or visual-spatial processing abnormalities. To further examine the potential mechanisms underlying social deficits in TS, we administered the empathic accuracy task, a naturalistic social cognition task. Method: The performance of 14 girls with TS was compared to 12 age-matched typically developing girls (ages 12 to 17) on an empathic accuracy task and a (control) visual-motor line-tracking task. Empathic accuracy was compared across positive and negative emotionally valanced videos. Results: We found that girls with TS differ from typically developing girls on empathic accuracy ratings for negative videos; no differences were detected for the positive videos. No between group differences were found on the control line tracking task. Conclusion: Our findings expand upon the previously detected affect recognition problems in TS to also include impaired detection of negatively valanced empathic interactions. Such difficulties for girls with TS could contribute to their social deficits and anxiety. Results from this study provide important information about gene-body-brain interactions and their influence on emotion processing and empathic accuracy during adolescence.

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“…The decisive factor for the further development of the child and the planning of specialist care is the rapid identification of the disease. The fact is that the identified mutation in the RAF1 gene in patients with NS does not mean they are predestined to develop psychomotor disorders [22,23].…”

Section: Discussionmentioning

confidence: 99%

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

Kaczan

Śmigiel

Kazimierska-Zając

et al. 2019

PNIN

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Introduction. Noonan syndrome (NS) is a genetically determined disease, inherited from autosomal dominant. About 50% of patients have a mutation in the PTPN11 gene, and mutations in the other genes are much less frequent, up to 10-15% for SOS1, RAF1, and RIT1, as well as up to 1-2% for others. Aim. To present the clinical picture of a child with NS with a non-frequent mutation in the RAF1 gene and to describe a proposal of good practice based on the multi-specialty child care procedures used from birth to 3 years of age. Case Report. The paper presents a boy with NS and his psychomotor and linguistic development during the 36 months of his life. The infant was born by cesarean section in average general condition and with features of macrosomia. Castillo-Morales rehabilitation techniques were used to improve the coordination of suction, swallowing and breathing. Bobath Neurodevelopmental Treatment was also used on the hospital ward. The NS child's development was assessed using the Munich Functional Developmental Diagnostics (MFDD). At the age of 36 months, the boy presents psychomotor development appropriate for the age of a healthy child. He remains under multidisciplinary team care and is intensively rehabilitated accordingly to both movement and linguistic functions. Discussion. Management of NS should be comprehensive and multidisciplinary, and continuous monitoring of patients is crucial. Although a number of patients experience learning difficulties and a mild form of mental impairment, the diagnosis of NS does not predispose to mental disorders. Conclusions. NS is a multi-symptomatic disease that manifests itself in the expression of clinical symptoms requiring the interdisciplinary cooperation of many specialists. The fact is that the identified mutation in the RAF1 gene in patients with NS does not mean they are predestined to develop psychomotor disorders.

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

Cited by 14 publications

References 59 publications

Pragmatic language impairment in children with Noonan syndrome

Pragmatic language impairment in children with Noonan syndrome

Empathic accuracy in adolescent girls with Turner Syndrome

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

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