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...
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| Format: | Article |
| Language: | English |
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BMC
2018-06-01
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| Series: | Journal of Neurodevelopmental Disorders |
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| Online Access: | http://link.springer.com/article/10.1186/s11689-018-9239-8 |
| _version_ | 1818332965358272512 |
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| author | Elizabeth I. Pierpont Rebekah L. Hudock Allison M. Foy Margaret Semrud-Clikeman Mary Ella Pierpont Susan A. Berry Ryan Shanley Nathan Rubin Katherine Sommer Christopher L. Moertel |
| author_facet | Elizabeth I. Pierpont Rebekah L. Hudock Allison M. Foy Margaret Semrud-Clikeman Mary Ella Pierpont Susan A. Berry Ryan Shanley Nathan Rubin Katherine Sommer Christopher L. Moertel |
| author_sort | Elizabeth I. Pierpont |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T13:44:07Z |
| format | Article |
| id | doaj.art-dc4f17387b084256b838f91f9dc422f9 |
| institution | Directory Open Access Journal |
| issn | 1866-1947 1866-1955 |
| language | English |
| last_indexed | 2024-12-13T13:44:07Z |
| publishDate | 2018-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-dc4f17387b084256b838f91f9dc422f92022-12-21T23:43:30ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552018-06-0110111110.1186/s11689-018-9239-8Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1Elizabeth I. Pierpont0Rebekah L. Hudock1Allison M. Foy2Margaret Semrud-Clikeman3Mary Ella Pierpont4Susan A. Berry5Ryan Shanley6Nathan Rubin7Katherine Sommer8Christopher L. Moertel9Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of MinnesotaDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of MinnesotaDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of MinnesotaDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of MinnesotaDivision of Genetics & Metabolism, Department of Pediatrics and Ophthalmology, University of MinnesotaDivision of Genetics & Metabolism, Department of Pediatrics and Ophthalmology, University of MinnesotaBiostatistics Core, University of MinnesotaBiostatistics Core, University of MinnesotaUniversity of Minnesota HealthDivision of Pediatric Hematology and Oncology, Department of Pediatrics, University of MinnesotaAbstract 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.http://link.springer.com/article/10.1186/s11689-018-9239-8RASopathiesNoonan syndromeNeurofibromatosis type 1NF1SocialNeuropsychological |
| spellingShingle | Elizabeth I. Pierpont Rebekah L. Hudock Allison M. Foy Margaret Semrud-Clikeman Mary Ella Pierpont Susan A. Berry Ryan Shanley Nathan Rubin Katherine Sommer Christopher L. Moertel Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 Journal of Neurodevelopmental Disorders RASopathies Noonan syndrome Neurofibromatosis type 1 NF1 Social Neuropsychological |
| title | Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 |
| title_full | Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 |
| title_fullStr | Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 |
| title_full_unstemmed | Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 |
| title_short | Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 |
| title_sort | social skills in children with rasopathies a comparison of noonan syndrome and neurofibromatosis type 1 |
| topic | RASopathies Noonan syndrome Neurofibromatosis type 1 NF1 Social Neuropsychological |
| url | http://link.springer.com/article/10.1186/s11689-018-9239-8 |
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