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

Rebekah L Hudock,Susan A Berry,Ryan Shanley,Christopher L Moertel,Elizabeth I Pierpont,Katherine Sommer,Mary Ella Pierpont,Allison M Foy,Nathan Rubin,Margaret Semrud-Clikeman

doi:10.1186/s11689-018-9239-8

Rebekah L Hudock, Susan A Berry + Show 8 more

Open Access

https://doi.org/10.1186/s11689-018-9239-8

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Abstract

BackgroundGene 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.MethodsParents 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.ResultsWith 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.ConclusionsAmidst 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.

Highlights

Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders
No studies have explored whether similar neuropsychological mechanisms underlie the heightened frequency of impaired social competence among children with these two biologically related genetic conditions, observations from our clinical experience working with children with NS and NF1 has suggested a high degree of overlap in the behavioral phenotype of the two most common RASopathies
Ten (26%) children with NS and 15 (38%) children with NF1 scored in the below average range on this measure, as compared to four (13%) unaffected siblings who scored in the below average range

Summary

Introduction

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, for children with NS. A higher prevalence of cognitive and learning disabilities, attention deficit hyperactivity disorder (ADHD), and characteristics of autism spectrum disorder (ASD) has been observed in both NS and NF1 [7,8,9,10] Aligned with this finding, there is an expanding literature documenting overall poorer social competence (i.e., impairment in daily life skills that affect interpersonal interactions) in children with NS [11] as well as children with NF1 [12,13,14].

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