Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

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4 Scopus citations


While neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are clinically distinct genetic syndromes, they have overlapping features because they are caused by pathogenic variants in genes encoding molecules within the Ras-mitogen-activated protein kinase signaling pathway. Increased risk for emotional and behavioral challenges has been reported in both children and adults with these syndromes. The current study examined parent-report and self-report measures of emotional functioning among children with NF1 and NS as compared to their unaffected siblings. Parents and children with NS (n = 39), NF1 (n = 39), and their siblings without a genetic condition (n = 32) completed well-validated clinical symptom rating scales. Results from parent questionnaires indicated greater symptomatology on scales measuring internalizing behaviors and symptoms of attention deficit hyperactivity disorder (ADHD) in both syndrome groups as compared with unaffected children. Frequency and severity of emotional and behavioral symptoms were remarkably similar across the two clinical groups. Symptoms of depression and anxiety were higher in children who were also rated as meeting symptom criteria for ADHD. While self-report ratings by children generally correlated with parent ratings, symptom severity was less pronounced. Among unaffected siblings, parent ratings indicated higher than expected levels of anxiety. Study findings may assist with guiding family-based interventions to address emotional challenges.

Original languageEnglish (US)
Pages (from-to)2433-2446
Number of pages14
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 1 2019

Bibliographical note

Funding Information:
The authors would like to express gratitude to the children and their families who participated in the research. Support for this study was provided by a University of Minnesota Department of Pediatrics fellowship award to the second and last authors, as well as a gift from the NF Midwest and NF Upper Midwest Foundations. Research reported in this publication was also supported by NIH Grant P30 CA77598 utilizing the Biostatistics and Bioinformatics Core shared resource of the Masonic Cancer Center, University of Minnesota and by the National Center for Advancing Translational Sciences of the National Institutes of Health Award Number UL1TR002494. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Publisher Copyright:
© 2019 Wiley Periodicals, Inc.


  • Noonan syndrome
  • RASopathies
  • anxiety
  • depression
  • emotional function
  • neurofibromatosis type 1


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