Social skills in children with RASopathies: A comparison of Noonan syndrome and neurofibromatosis type 1

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5 Citations (Scopus)

Abstract

Background: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. Methods: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. Results: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. Conclusions: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.

Original languageEnglish (US)
Article number21
JournalJournal of Neurodevelopmental Disorders
Volume10
Issue number1
DOIs
StatePublished - Jun 18 2018

Fingerprint

Noonan Syndrome
Neurofibromatosis 1
Language
Attention Deficit Disorder with Hyperactivity
Siblings
Adolescent Development
Social Skills
Aptitude
Child Development
Caregivers
Anxiety
Parents

Keywords

  • Language
  • NF1
  • Neurofibromatosis type 1
  • Neuropsychological
  • Noonan syndrome
  • RASopathies
  • Social

PubMed: MeSH publication types

  • Comparative Study
  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

Cite this

@article{77430e26c03b44ccac8537321cf29a7a,
title = "Social skills in children with RASopathies: A comparison of Noonan syndrome and neurofibromatosis type 1",
abstract = "Background: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. Methods: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. Results: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5{\%} of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. Conclusions: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.",
keywords = "Language, NF1, Neurofibromatosis type 1, Neuropsychological, Noonan syndrome, RASopathies, Social",
author = "Rene Pierpont and Rebekah Hudock and Foy, {Allison M.} and Semrud-Clikeman, {Margaret E} and Pierpont, {Mary Ella M} and Berry, {Susan A} and Shanley, {Ryan M} and Rubin, {Nathan T} and Katherine Sommer and Moertel, {Christopher L}",
year = "2018",
month = "6",
day = "18",
doi = "10.1186/s11689-018-9239-8",
language = "English (US)",
volume = "10",
journal = "Journal of Neurodevelopmental Disorders",
issn = "1866-1947",
publisher = "Springer New York",
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}

TY - JOUR

T1 - Social skills in children with RASopathies

T2 - A comparison of Noonan syndrome and neurofibromatosis type 1

AU - Pierpont, Rene

AU - Hudock, Rebekah

AU - Foy, Allison M.

AU - Semrud-Clikeman, Margaret E

AU - Pierpont, Mary Ella M

AU - Berry, Susan A

AU - Shanley, Ryan M

AU - Rubin, Nathan T

AU - Sommer, Katherine

AU - Moertel, Christopher L

PY - 2018/6/18

Y1 - 2018/6/18

N2 - Background: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. Methods: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. Results: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. Conclusions: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.

AB - Background: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. Methods: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. Results: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. Conclusions: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.

KW - Language

KW - NF1

KW - Neurofibromatosis type 1

KW - Neuropsychological

KW - Noonan syndrome

KW - RASopathies

KW - Social

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