Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355–69.
Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141(1):71–4.
Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet. 1999;89(1):1–6.
Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985;21(3):493–506.
Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, et al. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A. 2012;158A(5):1083–94.
Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, et al. Autism traits in the RASopathies. J Med Genet. 2014;51(1):10–20.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, et al. Behavioral profile in RASopathies. Am J Med Genet A. 2014;164(4):934–42.
Green T, Naylor, P.E., & Davies, W.. Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: turner syndrome and the RASopathies. J Neurodev Disord 2017.
Wingbermuhle E, Egger JI, Verhoeven WM, van der Burgt I, Kessels RP. Affective functioning and social cognition in Noonan syndrome. Psychol Med. 2012;42(2):419–26.
Pierpont EI, Tworog-Dube E, Roberts AE. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Developmental Medicine & Child Neurology. 2015;57(4):385–92.
Cesarini L, Alfieri P, Pantaleoni F, Vasta I, Cerutti M, Petrangeli V, et al. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. Am J Med Genet A. 2009;149A(2):140–6.
Axelrad ME, Schwartz DD, Katzenstein JM, Hopkins E, Gripp KW. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review. Am J Med Genet C Semin Med Genet. 2011;157C(2):115–22.
Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, et al. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010;152A(3):591–600.
Garg S, Brooks A, Burns A, Burkitt-Wright E, Kerr B, Huson S, et al. Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway. Dev Med Child Neurol. 2017;59(5):544–9.
Pierpont EI, Hudock RL, Foy AM, Semrud-Clikeman M, Pierpont ME, Berry SA, et al. Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1. J Neurodev Disord. 2018;10(1):21.
Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, et al. Autism spectrum disorder in an unselected cohort of children with neurofibromatosis type 1 (NF1). J Autism Dev Disord. 2018:1–8.
Huijbregts S, Jahja R, De Sonneville L, de Breij S, Swaab-Barneveld H. Social information processing in children and adolescents with neurofibromatosis type 1. Dev Med Child Neurol. 2010;52(7):620–5.
Walsh KS, Rau S. Measurement considerations in pediatric research on autism spectrum disorders. Prog Brain Res. 2018;241:193–220.
Diagnostic and Statistical Manual of Mental Disorders: DSM-5. 5th ed., American Psychiatric Association, 2013.
Maenner MS, Shaw KA, Baio J. Prevalence of autism spectrum disorder among children aged 8 years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. MMWR Surveillance Summary. 2020;69(SS-4):1–12.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485(7397):237–41.
McDuffie A, Thurman AJ, Hagerman RJ, Abbeduto L. Symptoms of autism in males with fragile X syndrome: a comparison to nonsyndromic ASD using current ADI-R scores. J Autism Dev Disord. 2015;45(7):1925–37.
Lee M, Martin GE, Berry-Kravis E, Losh M. A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. J Neurodev Disord. 2016;8:47.
Dressler A, Perelli V, Bozza M, Bargagna S. The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone. Funct Neurol. 2011;26(3):151–8.
Packer A. RAS pathway, a potentially unifying theory of autism. Simons Foundation Autism Research Initiative. 2012;13.
Verhoeven W, Wingbermuhle E, Egger J, Van der Burgt I, Tuinier S. Noonan syndrome: psychological and psychiatric aspects. Am J Med Genet A. 2008;146A(2):191–6.
Noll RB, Reiter-Purtill J, Moore BD, Schorry EK, Lovell AM, Vannatta K, et al. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet A. 2007;143A(19):2261–73.
Axelrad ME, Glidden R, Nicholson L, Gripp KW. Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. Am J Med Genet A. 2004;128A(4):396–400.
Axelrad ME, Schwartz DD, Fehlis JE, Hopkins E, Stabley DL, Sol-Church K, et al. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. Am J Med Genet A. 2009;149A(12):2666–72.
Plasschaert E, Descheemaeker MJ, Van Eylen L, Noens I, Steyaert J, Legius E. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 2015;168(1):72–80.
Geoffray MM, Falissard B, Green J, Kerr B, Evans DG, Huson S, et al. Autism spectrum disorder symptom profile across the RASopathies. Front Psychiatry. 2020;11:585700.
Prinzie P, Descheemaeker MJ, Vogels A, Cleymans T, Haselager GJ, Curfs LM, et al. Personality profiles of children and adolescents with neurofibromatosis type 1. Am J Med Genet A. 2003;118A(1):1–7.
Gripp KW, Lin AE. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med. 2012;14(3):285–92.
Kawame H, Matsui M, Kurosawa K, Matsuo M, Masuno M, Ohashi H, et al. Further delineation of the behavioral and neurological features in Costello syndrome. Am J Med Genet A. 2003;118A(1):8–14.
Philip N, Sigaudy S. Costello syndrome. J Med Genet. 1998;35(3):238–40.
Goodman R. The strengths and difficulties questionnaire: a research note. J Child Psychol Psychiatry. 1997;38:581–6.
Goodman R, Meltzer H, Bailey V. The strengths and difficulties questionnaire: a pilot study on the validity of the self-report version. Eur Child Adolesc Psychiatry. 1998;7(3):125–30.
Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, et al. Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol. 2013;55(2):139–45.
Johnson H, Wiggs L, Stores G, Huson SM. Psychological disturbance and sleep disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2005;47(4):237–42.
Cohen R, Steinberg T, Kornreich L, Aharoni S, Halevy A, Shuper A. Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1. Eur J Pediatr. 2015;174(2):199–203.
Russell G, Rodgers LR, Ford T. The strengths and difficulties questionnaire as a predictor of parent-reported diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. PLoS One. 2013;8(12):e80247.
Baron-Cohen S, Wheelwright S. The empathy quotient: an investigation of adults with Asperger syndrome or high functioning autism, and normal sex differences. J Autism Dev Disord. 2004;34(2):163–75.
Randall M, Sciberras E, Brignell A, Ihsen E, Efron D, Dissanayake C, et al. Autism spectrum disorder: presentation and prevalence in a nationally representative Australian sample. Aust N Z J Psychiatry. 2016;50(3):243–53.
Salayev K, Sanne B. The strengths and difficulties questionnaire (SDQ) in autism spectrum disorders. Int J Dis Human Dev. 2016;16:3.
Lowe MR, Cautela JR. A self-report measure of social skill. Behav Ther. 1978;9:535–44.
Pride NA, Crawford H, Payne JM, North KN. Social functioning in adults with neurofibromatosis type 1. Res Dev Disabil. 2013;34(10):3393–9.
Blair RJ. Responding to the emotions of others: dissociating forms of empathy through the study of typical and psychiatric populations. Conscious Cogn. 2005;14(4):698–718.
Imuta K, Henry JD, Slaughter V, Selcuk B, Ruffman T. Theory of mind and prosocial behavior in childhood: a meta-analytic review. Dev Psychol. 2016;52(8):1192–205.
Garg S, Plasschaert E, Descheemaeker MJ, Huson S, Borghgraef M, Vogels A, et al. Autism spectrum disorder profile in neurofibromatosis type I. J Autism Dev Disord. 2015;45(6):1649–57.
Payne JM, Porter M, Pride NA, North KN. Theory of mind in children with neurofibromatosis type 1. Neuropsychology. 2016;30(4):439–48.
Pride NA, Korgaonkar MS, Barton B, Payne JM, Vucic S, North KN. The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1. Hum Brain Mapp. 2014;35(5):2372–82.
Roelofs RL, Wingbermuhle E, Freriks K, Verhaak CM, Kessels RPC, Egger JIM. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and turner syndromes. Am J Med Genet A. 2015;167(4):768–76.
Chisholm AK, Anderson VA, Pride NA, Malarbi S, North KN, Payne JM. Social function and autism spectrum disorder in children and adults with neurofibromatosis type 1: a systematic review and meta-analysis. Neuropsychol Rev. 2018;28(3):317–40.
Barton B, North K. Social skills of children with neurofibromatosis type 1. Dev Med Child Neurol. 2004;46(8):553–63.
Walsh KS, Velez JI, Kardel PG, Imas DM, Muenke M, Packer RJ, et al. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol. 2013;55(2):131–8.
Huijbregts S, de Sonneville L. Does cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1? Behav Genet. 2011;41(3):430–6.
Martin S, Wolters P, Baldwin A, Gillespie A, Dombi E, Walker K, et al. Social-emotional functioning of children and adolescents with neurofibromatosis type 1 and plexiform neurofibromas: relationships with cognitive, disease, and environmental variables. J Pediatr Psychol. 2012;37(7):713–24.
Plasschaert E, Van Eylen L, Descheemaeker MJ, Noens I, Legius E, Steyaert J. Executive functioning deficits in children with neurofibromatosis type 1: the influence of intellectual and social functioning. Am J Med Genet B Neuropsychiatr Genet. 2016;171(3):348–62.
Brei NG, Klein-Tasman BP, Schwarz GN, Casnar CL. Language in young children with neurofibromatosis-1: relations to functional communication, attention, and social functioning. Res Dev Disabil. 2014;35(10):2495–504.
Lewis AK, Porter MA, Williams TA, North KN, Payne JM. Social competence in children with neurofibromatosis type 1: relationships with psychopathology and cognitive ability. Journal of childhood and developmental disorders. 2016;2(2).
Eisenberg N, Mussen PH. The roots of prosocial behavior in children. Cambridge University press; 1989.
Rose-Krasnor L. The nature of social competence: a theoretical review. Soc Dev. 1997;6(1):111–35.
Merrell KW. Social emotional assets and resilience scales. FL: PAR: Lutz; 2011.
Merrell KM, Caldarella P. Home and community social behavior scales. Baltimore, MD: Paul H. Brookes Publishing; 2002.
Perry A, Taheri A, Ting V, Weiss J. The GO4KIDDS brief adaptive scale. J Appl Res Intellect Disabil. 2015;28(6):594–7.
Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81.
Pan X, Totsika V, Nicholls G, Paris A. Validating GO4KIDDS as a brief measure of adaptive skills in special education settings for children with severe intellectual disability. J Appl Res Intellect Disabil. 2019;32(2):280–7.
Gresham FM, Elliot SN. The social skills rating system. Circle Pines, MN: American Guidance Service; 1990.
Goodman R, Scott S. Comparing the strengths and difficulties questionnaire and the child behavior checklist: is small beautiful? J Abnorm Child Psychol. 1999;27(1):17–24.
Goodman R. The extended version of the strengths and difficulties questionnaire as a guide to child psychiatric caseness and consequent burden. J Child Psychol Psychiatry. 1999;40(5):791–9.
Goodman R. Psychometric properties of the strengths and difficulties questionnaire. J Am Acad Child Adolesc Psychiatry. 2001;40(11):1337–45.
McNeill AM, Hudock RL, Foy AMH, Shanley R, Semrud-Clikeman M, Pierpont ME, et al. Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome. Am J Med Genet A. 2019;179(12):2433–46.
Pierpont EI, Wolford M. Behavioral functioning in cardiofaciocutaneous syndrome: risk factors and impact on parenting experience. Am J Med Genet A. 2016;170(8):1974–88.
Simonoff E, Pickles A, Charman T, Chandler S, Loucas T, Baird G. Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. J Am Acad Child Adolesc Psychiatry. 2008;47(8):921–9.
Joshi G, Faraone SV, Wozniak J, Petty C, Fried R, Galdo M, et al. Examining the clinical correlates of autism spectrum disorder in youth by ascertainment source. J Autism Dev Disord. 2014;44(9):2117–26.
Dilts CV, Carey JC, Kircher JC, Hoffman RO, Creel D, Ward K, et al. Children and adolescents with neurofibromatosis 1: a behavioral phenotype. J Dev Behav Pediatr. 1996;17(4):229–39.
Perrino F, Licchelli S, Serra G, Piccini G, Caciolo C, Pasqualetti P, et al. Psychopathological features in Noonan syndrome. Eur J Paediatr Neurol. 2018;22(1):170–7.
Kerns CM, Kendall PC, Berry L, Souders MC, Franklin ME, Schultz RT, et al. Traditional and atypical presentations of anxiety in youth with autism spectrum disorder. J Autism Dev Disord. 2014;44(11):2851–61.
Salazar F, Baird G, Chandler S, Tseng E, O'Sullivan T, Howlin P, et al. Co-occurring psychiatric disorders in preschool and elementary school-aged children with autism spectrum disorder. J Autism Dev Disord. 2015;45(8):2283–94.
North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, et al. Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 cognitive disorders task force. Neurology. 1997;48(4):1121–7.
Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65(7):1037–44.
van der Burgt I, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr. 1999;135(6):707–13.
Kavamura MI, Peres CA, Alchorne MM, Brunoni D. CFC index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet. 2002;112(1):12–6.
Grebe TA, Clericuzio C. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Am J Med Genet. 2000;95(2):135–43.
Christensen DL, Baio J, Van Naarden BK, Bilder D, Charles J, Constantino JN, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years--autism and developmental disabilities monitoring network, 11 sites, United States, 2012. MMWR Surveill Summ. 2016;65(3):1–23.
Loomes R, Hull L, Mandy WPL. What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis. J Am Acad Child Adolesc Psychiatry. 2017;56(6):466–74.
Werling DM, Geschwind DH. Sex differences in autism spectrum disorders. Curr Opin Neurol. 2013;26(2):146–53.
Garg S, Heuvelman H, Huson S, Tobin H, Green J, Evans DG, et al. Sex bias in autism spectrum disorder in neurofibromatosis type 1. J Neurodev Disord. 2016;8(1):26.
Bizaoui V, Gage J, Brar R, Rauen KA, Weiss LA. RASopathies are associated with a distinct personality profile. Am J Med Genet B Neuropsychiatr Genet. 2018;177(4):434–46.
Gillespie-Lynch K, Sepeta L, Wang Y, Marshall S, Gomez L, Sigman M, et al. Early childhood predictors of the social competence of adults with autism. J Autism Dev Disord. 2012;42(2):161–74.
Mautner VF, Kluwe L, Thakker SD, Leark RA. Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol. 2002;44(3):164–70.
Factor RS, Ryan SM, Farley JP, Ollendick TH, Scarpa A. Does the presence of anxiety and ADHD symptoms add to social impairment in children with autism Spectrum disorder? J Autism Dev Disord. 2017;47(4):1122–34.
McVey AJ, Schiltz HK, Haendel AD, Dolan BK, Willar KS, Pleiss SS, et al. Social difficulties in youth with autism with and without anxiety and ADHD symptoms. Autism Res. 2018;11(12):1679–89.
McQuade JD, Hoza B. Peer problems in attention deficit hyperactivity disorder: current status and future directions. Dev Disabil Res Rev. 2008;14(4):320–4.
Koegel L, Ashbaugh K, Navab A, Koegel R. Improving verbal empathetic communication for adults with autism spectrum disorder. J Autism Dev Disord. 2017;46(3):921–33.
Rauen KA. Cardiofaciocutaneous syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); 1993.
Riggs NR, Greenberg MT, Kusche CA, Pentz MA. The mediational role of neurocognition in the behavioral outcomes of a social-emotional prevention program in elementary school students: effects of the PATHS curriculum. Prev Sci. 2006;7(1):91–102.
Arda RB, Sakire O. Social competence and promoting alternative thinking strategies—PATHS preschool curriculum. Educational Sciences; Theory and Practice. 2012;12(4):2691–8.
Golan O, Ashwin E, Granader Y, McClintock S, Day K, Leggett V, et al. Enhancing emotion recognition in children with autism spectrum conditions: an intervention using animated vehicles with real emotional faces. J Autism Dev Disord. 2010;40(3):269–79.
Baron-Cohen S, Golan O, Ashwin E. Can emotion recognition be taught to children with autism spectrum conditions? Philos Trans R Soc Lond Ser B Biol Sci. 2009;364(1535):3567–74.
Hadwin J, Baron-Cohen S, Howlin P, Hill K. Can a theory of mind be taught to children with autism? Development and Psychopathology.8:345–65.
Roelofs RL, Wingbermuhle E, Kessels RPC, Egger JIM. Social cognitive training for adults with Noonan syndrome: a feasibility study. Neuropsychiatr Dis Treat. 2019;15:611–26.
Wingbermuhle E, Roelofs RL, van der Burgt I, Souren PM, Verhoeven WM, Kessels RP, et al. Cognitive functioning of adults with Noonan syndrome: a case-control study. Genes Brain Behav. 2012;11(7):785–93.
Greenberg MT, Kusché CA. Promoting social and emotional development in deaf children: the PATHS project. Seattle: University of Washington Press; 1993.
Beauchamp MH, Anderson V. SOCIAL: an integrative framework for the development of social skills. Psychol Bull. 2010;136(1):39–64.