Autism traits in the RASopathies

Journal of Medical Genetics

Volumn 51, Issue 1, 2014, Pages 10-20

  Adviento, Brigid ^a   Corbin, Iris L ^a,b   Widjaja, Felicia ^a   Desachy, Guillaume ^a   Enrique, Nicole ^c   Rosser, Tena ^d   Risi, Susan ^a   Marco, Elysa J ^a   Hendren, Robert L ^a   Bearden, Carrie E ^c,e   Rauen, Katherine A ^a   Weiss, Lauren A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Sutter Pacific Medical Foundation   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CHILDREN S HOSPITAL LOS ANGELES   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; AUTISM DIAGNOSTIC INTERVIEW REVISED; AUTISM DIAGNOSTIC OBSERVATION SCHEDULE; CARDIO FACIO CUTANEOUS SYNDROME; CHILD; CONTROLLED STUDY; COSTELLO SYNDROME; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NEUROFIBROMATOSIS; NOONAN SYNDROME; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; QUESTIONNAIRE; RATING SCALE; SCHOOL CHILD; SIBLING; SOCIAL ADAPTATION;

AUTISM; COSTELLO SYNDROME; CRANIO-FACIO-CUTANEOUS SYNDROME; NEUROFIBROMATOSIS TYPE 1; NOONAN SYNDROME;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; COSTELLO SYNDROME; DIAGNOSIS, DIFFERENTIAL; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MIDDLE AGED; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION; NEUROPSYCHOLOGICAL TESTS; NOONAN SYNDROME; PATIENT OUTCOME ASSESSMENT; PHENOTYPE; PREVALENCE; QUANTITATIVE TRAIT, HERITABLE; QUESTIONNAIRES; RAS PROTEINS; SEX FACTORS; SIBLINGS; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84890859667     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101951     Document Type: Article

References (78)

1. Blumberg S, Bramlett M, Kogan MD, Schieve L, Jones J, Lu M. Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-Aged U.S. Children: 2007 to 2011-2012. CDC National Health and Statistics Reports 2013.
2. Baio J. Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, 14 sites, United States, 2008. Morb Mortal Wkly Rep 2012;61:1-19.
3. Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet 2013;83:399-407.
4. Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E. Autism spectrum disorders: the quest for genetic syndromes. Am J Med Genet 2013;162B:327-66.
5. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee Y-H, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. De novo gene disruptions in children on the autistic spectrum. Neuron 2012;74:285-99.
6. Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang L-S, Lin C-F, Valladares O, Gabriel SB, DePristo M, Altshuler DM, Purcell SM, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013;77:235-42.
7. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin C-F, Stevens C, Wang L-S, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs R, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012;485:242-5.
8. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011;43:585-9.
9. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012;485:237-41.
10. Stein JL, Parikshak NN, Geschwind DH. Rare inherited variation in autism: beginning to see the forest and a few trees. Neuron 2013;77:209-11.
11. Packer A. RAS Pathway, a potentially unifying theory of autism. 2012. http://sfari.org/news-and-opinion/directors-columns/2012/ras-pathway-a-potentially-unifying-theory-of-autism
12. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Brett S, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Susan E, Carson AR, Casallo G, Casey J, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Fombonne E, Freitag CM, Gilbert J, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Howe JL, Hughes G, Hus V, Igliozzi R, Klauck SM, Kolevzon A, Korvatska O. NIH Public Access. Nature 2010;466:368-72.
13. Comings DE, Wu S, Chiu C, Muhleman D, Sverd J. Studies of the c-Harvey-Ras gene in psychiatric disorders. Psychiatry Res 1996;63:25-32.
14. Kelleher DL, Mehta RS, Jean-Francois BM, Preece AF, Blowers J, Crater GD, Thomas P. Safety, tolerability, pharmacodynamics and pharmacokinetics of umeclidinium and vilanterol alone and in combination: a randomized crossover trial. PloS One 2012;7:e50716.
15. Levitt P, Campbell DB. Review series The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest 2009;119:747-54.
16. Urdinguio RG, Lopez-Serra L, Lopez-Nieva P, Alaminos M, Diaz-Uriarte R, Fernandez AF, Esteller M. Mecp2-null mice provide new neuronal targets for Rett syndrome. PloS One 2008;3:e3669.
17. Gillberg C, Forsell C. Childhood psychosis and neurofibromatosis-more than a coincidence? J Autism Dev Disord 1984;14:1-8.
18. Gaffney GR, Tsai LY. Brief report: Magnetic resonance imaging of high level autism. J Autism Dev Disord 1987;17:433-8.
19. Williams P, Hersh J. Brief report: the association of neurofibromatosis type 1 and autism. J Autism Dev Disord 1998;28:567-71.
20. Mouridsen S, Andersen L, Sorensen S, Rich B, Isager T. Neurofibromatosis in infantile autism and other types of childhood psychoses. Acta Paedopsychiatr 1992;55.
21. Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord 2003;33:365-82.
22. Walsh KS, Vélez JI, Kardel PG, Imas DM, Muenke M, Packer RJ, Castellanos FX, Acosta MT. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol 2013;55:131-8.
23. Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J. Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol 2013;55:139-45.
24. Hyman S, Shores A, North K. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 2005;65:1037-44.
25. Lehtonen A, Howie E, Trump D, Huson SM. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol 2013;55:111-25.
26. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav 2009;8:275-82.
27. Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson M-L, Cave H, Gripp KW, Kerr B, Nystrom A-M, Sol-Church K, Verloes A, Zenker M. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet 2011;157:129-35.
28. 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 2011;157:115-22.
29. Barton B, North K. Social skills of children with neurofibromatosis type 1. Dev Med Child Neurol 2004;46:553-63.
30. Noll RB, Reiter-purtill J, Moore BD, Schorry EK, Lovell AM, Vannatta K, Gerhardt CA. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet 2007;143A:2261-73.
31. Wingbermuehle E, Egger J, van der Burgt I, Verhoeven W. Neuropsychological and behavioral aspects of Noonan syndrome. Horm Res 2009;72:15-23.
32. Ghaziuddin M, Bolyard B, Alessi N. Autistic disorder in Noonan syndrome. J Intellect Disabil Res 1994;38(Pt 1):67-72.
33. Axelrad M, Nicholson L. Longitudinal assessment of cognitive characteristics in Costello syndrome. Am J Med Genet 2007;143A:3185-93.
34. Galera C, Delrue M, Goizet C, Etchegoyhen K, Taupiac E, Sigaudy S, Arveiler B, Philip N, Bouvard M, Lacombe D. Behavioral and temperamental features of children with Costello syndrome. Am J Med Genet A 2006;140:968-74.
35. Brown I. The boy in the moon: a father's journey to understand his extraordinary son. New York, NY: St. Martin's Press, 2011.
36. Hyman S, Gill D, Shores E, Steinberg A, Joy P, Gibikote S, North K. Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology 2003;60:1139-45.
37. Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol 2007;49:894-9.
38. Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet 2010;152A:1161-8.
39. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics 2009;123:124-33.
40. Rutter M, Bailey A, Lord C. Social Communication Questionnaire (SCQ). Los Angeles, CA: Western Psychological Services, 2003.
41. Charman T, Baird G, SimonoffE. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. Br J Psychiatry 2007;191:554-9.
42. Chandler S, Charman T, Baird G, SimonoffE, Loucas T, Meldrum D, Scott M, Pickles A. Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. J Am Acad Child Adolesc Psychiatry 2007;46:1324-32.
43. Van der Meer JMJ, Oerlemans AM, van Steijn DJ, Lappenschaar MGA, de Sonneville LMJ, Buitelaar JK, Rommelse NNJ. Are autism spectrum disorder and attention-deficit/hyperactivity disorder different manifestations of one overarching disorder? Cognitive and symptom evidence from a clinical and population-based sample. J Am Acad Child Adolesc Psychiatry 2012;51:1160-72.e3.
44. Martin J, Hamshere ML, O'Donovan MC, Rutter M, Thapar A. Factor structure of autistic traits in children with ADHD. J Autism Dev Disord 2013 (Epub ahead of print).
45. Constantino J, Przybeck T, Friesen D, Todd R. Reciprocal social behavior in children with and without pervasive developmental disorders. J Dev Behav Pediatr 2000;21:2-11.
46. Constantino J, Gruber C. The social responsiveness scale manual. Los Angeles, CA: Western Psychological Services, 2005.
47. Constantino J, Lajonchere C, Lutz M, Gray T, Abbacchi A, McKenna K, Singh D, Todd RD. Autistic social impairment in the siblings of children with pervasive developmental disorders. Am J Psychiatry 2006;163:294-6.
48. Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P. Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 2010;167:1349-56.
49. Constantino JN, Hudziak JJ, Todd RD. Deficits in reciprocal social behavior in male twins: evidence for a genetically independent domain of psychopathology. J Am Acad Child Adolesc Psychiatry 2003;42:458-67.
50. Constantino JN, Davis SA, Todd RD, Schindler MK, Gross MM, Brophy SL, Metzger LM, Shoushtari CS, Splinter R, Reich W. Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised. J Autism Dev Disord 2003;33:427-33.
51. Constantino JN, Todd RD. Intergenerational transmission of subthreshold autistic traits in the general population. Biol Psychiatry 2005;57:655-60.
52. Bölte S, Poustka F, Constantino JN. Assessing autistic traits: cross-cultural validation of the social responsiveness scale (SRS). Autism Res 2008;1:354-63.
53. Reiersen AM, Constantino JN, Volk HE, Todd RD. Autistic traits in a population-based ADHD twin sample. J Child Psychol Psychiatry 2007;48:464-72.
54. Wechsler D. Wechsler abbreviated scale of intelligence. Pearson, 1999.
55. Wechsler D. Wechsler intelligence scale for children-fourth edition. Pearson Psychological Corporation, 2003.
56. Lord C, Risi S, Lambrecht L, Cook E, Leventhal B, DiLavore P, Pickles A, Rutter M. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30:205-23.
57. Bastiaansen JA, Meffert H, Hein S, Huizinga P, Ketelaars C, Pijnenborg M, Bartels A, Minderaa R, Keysers C, de Bildt A. Diagnosing autism spectrum disorders in adults: the use of Autism Diagnostic Observation Schedule (ADOS) module 4. J Autism Dev Disord 2011;41:1256-66.
58. De Bildt A, Sytema S, Ketelaars C, Kraijer D, Mulder E, Volkmar F, Minderaa R. Interrelationship between Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) classification in children and adolescents with menta. J Autism Dev Disord 2004;34:129-37.
59. Gray KM, Tonge BJ, Sweeney DJ. Using the autism diagnostic interview-revised and the autism diagnostic observation schedule with young children with developmental delay: evaluating diagnostic validity. J Autism Dev Disord 2008;38:657-67.
60. Papanikolaou K, Paliokosta E, Houliaras G, Vgenopoulou S, Giouroukou E, Pehlivanidis A, Tomaras V, Tsiantis I. Using the autism diagnostic interview-revised and the autism diagnostic observation schedule-generic for the diagnosis of autism spectrum disorders in a Greek sample with a wide range of intellectual abilities. J Autism Dev Disord 2009;39:414-20.
61. Lord C, Rutter M, Couteur A. Autism Diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994;24:659-85.
62. Kim S, Lord C. Combining information from multiple sources for the diagnosis of autism spectrum disorders for toddlers and young preschoolers from 12 to 47 months of age. J Child Psychol Psychiatry 2012;53:143-51.
63. Sparrow S, Cicchetti D, Balla D. Vineland-II: Vineland Adaptive Behavior Scales, Second Edition. Survey Forms Manual. Pearson, 2005.
64. Burack J, Volkmar F. Development of low- and high-functioning autistic children. J Child Psychol Psychiatry 1992;33:607-16.
65. Liss M, Fein D, Allen D, Dunn M, Feinstein C, Morris R, Waterhouse L, Rapin I. Executive functioning in high-functioning children with autism. J Child Psychol Psychiatry 2001;42:261-70.
66. Kraijer D. Review of adaptive behavior studies in mentally retarded persons with autism/pervasive developmental disorder. J Autism Dev Disord 2000;30:39-47.
67. R: A language and environment for statistical computing. 2012. http://www.r-project.org/
68. Dray S, Dufour AB. The ade4 package: implementing the duality diagram for ecologists. J Stat Software 2007;22:1-20.
69. Moreno-De-Luca A, Myers S, Challman T, Moreno-De-Luca D, Evans D, Ledbetter D. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol 2013;12:406-14.
70. Fombonne E, Arthur Shores E, North KN. Epidemiology of pervasive developmental disorders. Pediatric Res 2009;65:591-8.
71. Hyman SL, Arthur Shores E, North KN. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit/hyperactivity disorder. Dev Med Child Neurol 2006;48:973-7.
72. Duvall JA, Lu A, Cantor RM, Todd RD, Constantino JN, Geschwind DH. A quantitative trait locus analysis of social responsiveness in multiplex autism families. Am J Psychiatry 2007;164:656-62.
73. Tidymann WE, Rauen KA. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev Mol Med 2008;10:1-16.
74. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009;19:230-6.
75. Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 2009;41:1022-6.
76. Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, Van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Med Genet 2010;87:250-7.
77. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2010;42:27-9.
78. Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 2007;44:763-71.