{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:04:23Z","timestamp":1790949863626,"version":"4.1.0"},"reference-count":91,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T00:00:00Z","timestamp":1652659200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009480","name":"Stichting Vrienden van het Sophia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009480","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Psychiatry"],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, <jats:italic>n<\/jats:italic> = 60), Angelman Syndrome (AS, <jats:italic>n<\/jats:italic> = 91), Neurofibromatosis Type 1 (NF1, <jats:italic>n<\/jats:italic> = 279) and Tuberous Sclerosis Complex (TSC, <jats:italic>n<\/jats:italic> = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, <jats:italic>n<\/jats:italic> = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fpsyt.2022.852208","type":"journal-article","created":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T16:32:59Z","timestamp":1661358779000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":21,"title":["Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison"],"prefix":"10.3389","volume":"13","author":[{"given":"Kyra","family":"Lubbers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eefje M.","family":"Stijl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bram","family":"Dierckx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doesjka A.","family":"Hagenaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leontine W.","family":"ten Hoopen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen S.","family":"Legerstee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pieter F. A.","family":"de Nijs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 B.","family":"Rietman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirstin","family":"Greaves-Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon H. J.","family":"Hillegers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwendolyn C.","family":"Dieleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine E.","family":"Mous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"ENCORE Expertise Center","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,5,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15585\/mmwr.ss6706a1","article-title":"Prevalence of Autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2014","volume":"67","author":"Baio","year":"2018","journal-title":"MMWR Surveill Summ."},{"key":"B2","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1038\/s41398-021-01378-8","article-title":"UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes","volume":"11","author":"Rodriguez-Fontenla","year":"2021","journal-title":"Transl Psychiatry."},{"key":"B3","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1111\/jcpp.12499","article-title":"Heritability of autism spectrum disorders: a meta-analysis of twin studies","volume":"57","author":"Tick","year":"2016","journal-title":"J Child Psychol Psychiatry."},{"key":"B4","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1016\/S2215-0366(15)00376-4","article-title":"Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis","volume":"2","author":"Richards","year":"2015","journal-title":"Lancet Psychiat."},{"key":"B5","doi-asserted-by":"publisher","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat Rev Dis Primers."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1070","DOI":"10.1016\/j.neuron.2019.02.041","article-title":"A synaptic perspective of fragile X syndrome and autism spectrum disorders","volume":"101","author":"Bagni","year":"2019","journal-title":"Neuron."},{"key":"B7","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1016\/j.beem.2010.02.002","article-title":"Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes","volume":"24","author":"Lodish","year":"2010","journal-title":"Best Pract Res Clin Endocrinol Metab."},{"key":"B8","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.neuropharm.2012.11.015","article-title":"An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy","volume":"68","author":"Millan","year":"2013","journal-title":"Neuropharmacology."},{"key":"B9","doi-asserted-by":"publisher","first-page":"2154","DOI":"10.1111\/febs.15258","article-title":"Angelman syndrome: a journey through the brain","volume":"287","author":"Maranga","year":"2020","journal-title":"FEBS J."},{"key":"B10","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.cell.2008.10.017","article-title":"The autistic neuron: troubled translation?","volume":"135","author":"Kelleher","year":"2008","journal-title":"Cell."},{"key":"B11","doi-asserted-by":"publisher","first-page":"2","DOI":"10.4172\/2165-7890.1000143","article-title":"Bridging the gap between genes and behavior: brain-derived neurotrophic factor and the mTOR pathway in idiopathic autism","volume":"5","author":"Fahnestock","year":"2015","journal-title":"Autism Open Access."},{"key":"B12","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1352\/1944-7558-121.6.465","article-title":"A comparative study of sociability in Angelman, Cornelia de Lange, fragile X, down and Rubinstein Taybi syndromes and autism spectrum disorder","volume":"121","author":"Moss","year":"2016","journal-title":"Am J Intellect Dev Disabil."},{"key":"B13","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1111\/jir.12702","article-title":"Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes","volume":"64","author":"Heald","year":"2020","journal-title":"J Intellect Disabil Res."},{"key":"B14","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1007\/s10803-018-3796-2","article-title":"ASD comorbidity in fragile X syndrome: symptom profile and predictors of symptom severity in adolescent and young adult males","volume":"49","author":"Abbeduto","year":"2019","journal-title":"J Autism Dev Disord."},{"key":"B15","doi-asserted-by":"publisher","first-page":"2278","DOI":"10.1007\/s10803-018-3478-0","article-title":"Autism spectrum disorder in an unselected cohort of children with neurofibromatosis type 1 (NF1)","volume":"48","author":"Eijk","year":"2018","journal-title":"J Autism Dev Disord."},{"key":"B16","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1177\/0883073817712875","article-title":"Autism symptoms in fragile X syndrome","volume":"32","author":"Niu","year":"2017","journal-title":"J Child Neurol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1212\/WNL.0000000000003002","article-title":"Symptom profiles of autism spectrum disorder in tuberous sclerosis complex","volume":"87","author":"Jeste","year":"2016","journal-title":"Neurology."},{"key":"B18","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G","article-title":"Prevalence of fragile X syndrome","volume":"64","author":"Turner","year":"1996","journal-title":"Am J Med Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1136\/jmg.2008.059055","article-title":"The fragile X prevalence paradox","volume":"45","author":"Hagerman","year":"2008","journal-title":"J Med Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-I","article-title":"Absence of expression of the FMR-1 gene in fragile X syndrome","volume":"66","author":"Pieretti","year":"1991","journal-title":"Cell."},{"key":"B21","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/nrn1667","article-title":"From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome","volume":"6","author":"Bagni","year":"2005","journal-title":"Nat Rev Neurosci."},{"key":"B22","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1523\/JNEUROSCI.1356-12.2015","article-title":"PDE-4 inhibition rescues aberrant synaptic plasticity in Drosophila and mouse models of fragile X syndrome","volume":"35","author":"Choi","year":"2015","journal-title":"J Neurosci."},{"key":"B23","doi-asserted-by":"publisher","first-page":"eaar4338","DOI":"10.1126\/scitranslmed.aar4338","article-title":"The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling","volume":"10","author":"Zhang","year":"2018","journal-title":"Sci Transl Med."},{"key":"B24","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.stemcr.2014.10.015","article-title":"Molecular mechanisms regulating the defects in fragile X syndrome neurons derived from human pluripotent stem cells","volume":"4","author":"Halevy","year":"2015","journal-title":"Stem Cell Rep."},{"key":"B25","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1002\/wcs.1296","article-title":"Cognitive aspects of fragile X syndrome","volume":"5","author":"Huddleston","year":"2014","journal-title":"Wiley Interdiscipl Rev Cogn Sci."},{"key":"B26","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/mrdd.20006","article-title":"Phenotypic variation and FMRP levels in fragile X","volume":"10","author":"Loesch","year":"2004","journal-title":"Ment Retard Dev Disabil Res Rev."},{"key":"B27","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00415-011-6161-3","article-title":"Fragile X-associated disorders: a clinical overview","volume":"259","author":"Gallagher","year":"2012","journal-title":"J Neurol."},{"key":"B28","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1097\/00004703-200112000-00008","article-title":"The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile x syndrome, idiopathic autism, and other developmental disorders","volume":"22","author":"Rogers","year":"2001","journal-title":"J Dev Behav Pediatr."},{"key":"B29","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1002\/ajmg.1320230128","article-title":"An analysis of autism in fifty males with the fragile X syndrome","volume":"23","author":"Hagerman","year":"1986","journal-title":"Am J Med Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s11689-021-09362-5","article-title":"Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence","volume":"13","author":"Marlborough","year":"2021","journal-title":"J Neurodev Disord."},{"key":"B31","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1023\/A:1005412111706","article-title":"Early development, temperament, and functional impairment in autism and fragile X syndrome","volume":"30","author":"Bailey","year":"2000","journal-title":"J Autism Dev Disord."},{"key":"B32","doi-asserted-by":"publisher","first-page":"1925","DOI":"10.1007\/s10803-013-2013-6","article-title":"Symptoms of autism in males with fragile X syndrome: a comparison to nonsyndromic ASD using current ADI-R scores","volume":"45","author":"McDuffie","year":"2015","journal-title":"J Autism Dev Disord."},{"key":"B33","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1007\/s10803-014-2246-z","article-title":"DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome","volume":"45","author":"Wheeler","year":"2015","journal-title":"J Autism Dev Disord."},{"key":"B34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1352\/1944-7558-117.1.1","article-title":"Behavioral phenotype of fragile X syndrome in adolescence and adulthood","volume":"117","author":"Smith","year":"2012","journal-title":"Am J Intellect Dev Disabil."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1324","DOI":"10.1016\/j.jaac.2012.09.001","article-title":"Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism","volume":"51","author":"Wolff","year":"2012","journal-title":"J Am Acad Child Adolesc Psychiatry."},{"key":"B36","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1038\/ng0197-70","article-title":"UBE3A\/E6-AP mutations cause Angelman syndrome","volume":"15","author":"Kishino","year":"1997","journal-title":"Nat Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/ajmg.a.31074","article-title":"Angelman syndrome 2005: updated consensus for diagnostic criteria","volume":"140","author":"Williams","year":"2006","journal-title":"Am J Med Genet A."},{"key":"B38","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/s13052-016-0301-4","article-title":"Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient","volume":"42","author":"Micheletti","year":"2016","journal-title":"Italian J Pediatr."},{"key":"B39","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/ajmg.a.30065","article-title":"Cognitive and adaptive behavior profiles of children with Angelman syndrome","volume":"128","author":"Peters","year":"2004","journal-title":"Am J Med Genet Part A."},{"key":"B40","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1177\/1362361304042720","article-title":"Autism in Angelman syndrome: an exploration of comorbidity","volume":"8","author":"Trillingsgaard","year":"2004","journal-title":"Autism."},{"key":"B41","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1007\/s10048-007-0086-0","article-title":"Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes","volume":"8","author":"Bonati","year":"2007","journal-title":"Neurogenetics."},{"key":"B42","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1136\/jmg.2005.036913","article-title":"Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations","volume":"43","author":"Sahoo","year":"2006","journal-title":"J Med Genet."},{"key":"B43","first-page":"928","article-title":"Autism or atypical autism in maternally but not paternally derived proximal 15q duplication","volume":"60","author":"Cook","year":"1997","journal-title":"Am J Hum Genet."},{"key":"B44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s12031-018-1073-7","article-title":"Meta-analysis of the association between GABA receptor polymorphisms and Autism Spectrum Disorder (ASD)","volume":"65","author":"Mahdavi","year":"2018","journal-title":"J Mol Neurosci."},{"key":"B45","doi-asserted-by":"publisher","first-page":"39","DOI":"10.3389\/fnana.2020.00039","article-title":"The neurodevelopmental pathogenesis of Tuberous Sclerosis Complex (TSC)","volume":"14","author":"Feliciano","year":"2020","journal-title":"Front Neuroanat."},{"key":"B46","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","article-title":"Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012. International Tuberous Sclerosis Complex Consensus Conference","volume":"49","author":"Northrup","year":"2013","journal-title":"Pediatr Neurol."},{"key":"B47","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1111\/j.1749-6632.1991.tb37743.x","article-title":"Neuropsychiatric aspects of tuberous sclerosis","volume":"615","author":"Curatolo","year":"1991","journal-title":"Ann N Y Acad Sci."},{"key":"B48","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1017\/S0033291702007092","article-title":"Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex","volume":"33","author":"Joinson","year":"2003","journal-title":"Psychol Med."},{"key":"B49","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1111\/dmcn.12044","article-title":"Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach","volume":"55","author":"Van Eeghen","year":"2013","journal-title":"Dev Med Child Neurol."},{"key":"B50","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1007\/s00787-006-0570-3","article-title":"The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC)","volume":"16","author":"de Vries","year":"2007","journal-title":"Eur Child Adolesc Psychiatry."},{"key":"B51","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.braindev.2018.07.003","article-title":"Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan","volume":"41","author":"Mizuguchi","year":"2019","journal-title":"Brain Dev."},{"key":"B52","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.1016\/S0140-6736(16)31419-2","article-title":"Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study","volume":"388","author":"French","year":"2016","journal-title":"Lancet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"1292","DOI":"10.1038\/ncomms2295","article-title":"Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex","volume":"3","author":"Sato","year":"2012","journal-title":"Nat Commun."},{"key":"B54","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s11689-021-09357-2","article-title":"mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus","volume":"13","author":"Petrasek","year":"2021","journal-title":"J Neurodev Disord."},{"key":"B55","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1146\/annurev-genom-091212-153523","article-title":"The RASopathies","volume":"14","author":"Rauen","year":"2013","journal-title":"Annu Rev Genomics Hum Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.spen.2006.01.005","article-title":"Clinical manifestations and management of neurofibromatosis type 1","volume":"13","author":"Tonsgard","year":"2006","journal-title":"Semin Pediatr Neurol."},{"key":"B57","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1242\/jcs.013912","article-title":"Neurofibromin as a regulator of melanocyte development and differentiation","volume":"121","author":"Diwakar","year":"2008","journal-title":"J Cell Sci."},{"key":"B58","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1086\/504441","article-title":"Double inactivation of NF1 in tibial pseudarthrosis","volume":"79","author":"Stevenson","year":"2006","journal-title":"Am J Hum Genet."},{"key":"B59","doi-asserted-by":"publisher","first-page":"1583","DOI":"10.1038\/nn.3822","article-title":"Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p21-activated kinase","volume":"17","author":"Molosh","year":"2014","journal-title":"Nat Neurosci."},{"key":"B60","unstructured":"Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity85737\n            BajenaruML\n            HernandezMR\n            PerryA\n            ZhuY\n            ParadaLF\n            GarbowJR\n          14695164Cancer Res.632003"},{"key":"B61","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1111\/dmcn.12043","article-title":"Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study","volume":"55","author":"Garg","year":"2013","journal-title":"Dev Med Child Neurol."},{"key":"B62","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1111\/dmcn.12038","article-title":"Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1","volume":"55","author":"Walsh","year":"2013","journal-title":"Dev Med Child Neurol."},{"key":"B63","doi-asserted-by":"publisher","first-page":"227","DOI":"10.3389\/fped.2017.00227","article-title":"Cognitive and behavioral disorders in children with neurofibromatosis type 1","volume":"5","author":"Torres Nupan","year":"2017","journal-title":"Front Pediatr."},{"key":"B64","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1038\/s41436-020-0752-2","article-title":"Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1","volume":"22","author":"Ottenhoff","year":"2020","journal-title":"Genet Med."},{"key":"B65","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1001\/jamapsychiatry.2016.2600","article-title":"Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the international NF1-ASD Consortium Team (INFACT)","volume":"73","author":"Morris","year":"2016","journal-title":"JAMA Psychiatry."},{"key":"B66","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s11065-018-9380-x","article-title":"Social function and autism spectrum disorder in children and adults with neurofibromatosis type 1: a systematic review and meta-analysis","volume":"28","author":"Chisholm","year":"2018","journal-title":"Neuropsychol Rev."},{"key":"B67","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1007\/s10803-014-2321-5","article-title":"Autism spectrum disorder profile in neurofibromatosis type I","volume":"45","author":"Garg","year":"2015","journal-title":"J Autism Dev Disord."},{"key":"B68","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/aur.1746","article-title":"Time to give up on autism spectrum disorder?","volume":"10","author":"M\u00fcller","year":"2017","journal-title":"Autism Res"},{"key":"B69","doi-asserted-by":"publisher","first-page":"P271","DOI":"10.1016\/S0140-6736(21)01541-5","article-title":"The Lancet Commission on the future of care and clinical research in autism","volume":"399","author":"Lord","year":"2021","journal-title":"Lancet"},{"key":"B70","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s10803-016-2919-x","article-title":"Design and cohort characteristics of the social spectrum study: a multicenter study of the autism spectrum among clinically referred children","volume":"47","author":"Duvekot","year":"2017","journal-title":"J Autism Dev Disord."},{"key":"B71","volume-title":"Social Responsiveness Scale Second Edition (SRS-2): Manual","author":"Constantino","year":"2012"},{"key":"B72","volume-title":"The Autism Diagnostic Observation Schedule (ADOS)","author":"Lord","year":"1999"},{"key":"B73","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1007\/s10803-006-0280-1","article-title":"The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity","volume":"37","author":"Gotham","year":"2007","journal-title":"J Autism Dev Disord."},{"key":"B74","volume-title":"Autism Diagnostic Observation Schedule","author":"Lord","year":"2012"},{"key":"B75","doi-asserted-by":"publisher","first-page":"2400","DOI":"10.1007\/s10803-012-1719-1","article-title":"Standardizing ADOS domain scores: separating severity of social affect and restricted and repetitive behaviors","volume":"44","author":"Hus","year":"2014","journal-title":"J Autism Dev Disord."},{"key":"B76","doi-asserted-by":"publisher","first-page":"1996","DOI":"10.1007\/s10803-014-2080-3","article-title":"The autism diagnostic observation schedule, module 4: revised algorithm and standardized severity scores","volume":"44","author":"Hus","year":"2014","journal-title":"J Autism Dev Disord."},{"key":"B77","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1177\/1362361310379241","article-title":"Use of the Autism Diagnostic Observation Schedule (ADOS) in a clinical setting","volume":"15","author":"Molloy","year":"2011","journal-title":"Autism."},{"key":"B78","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1111\/j.1469-7610.2012.02589.x","article-title":"Factors influencing scores on the social responsiveness scale","volume":"54","author":"Hus","year":"2013","journal-title":"J Child Psychol Psychiatry."},{"key":"B79","first-page":"224","volume-title":"The Wechsler Preschool and Primary Scale of Intelligence\u2014Third Edition, the Wechsler Intelligence Scale for Children\u2014Fourth Edition, and the Wechsler Individual Achievement Test\u2014Third Edition. Contemporary Intellectual Assessment: Theories, Tests, and Issues.","author":"Wahlstrom","year":"2012"},{"key":"B80","volume-title":"Weschler Intelligence Scale for Children: Third Edition Manual","author":"Wechsler","year":"1991"},{"key":"B81","volume-title":"WISC-V: Technical and Interpretive Manual","author":"Wechsler","year":"2014"},{"key":"B82","volume-title":"WAIS-III: Administration and Scoring Manual: Wechsler Adult Intelligence Scale","author":"Wechsler","year":"1997"},{"key":"B83","volume-title":"WNV: Wechsler Nonverbal Scale of Ability","author":"Wechsler","year":"2006"},{"key":"B84","volume-title":"Bayley Scales of Infant and Toddler Development","author":"Bayley","year":"2006"},{"key":"B85","volume-title":"Snijders-Oomen Niet-verbale Intelligentietest: Verantwoording","author":"Tellegen","year":"2011"},{"key":"B86","volume-title":"IBM SPSS Statistics 25 Step by Step: A Simple Guide and Reference","author":"Mallery","year":"2018"},{"key":"B87","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s11689-010-9067-y","article-title":"Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization","volume":"3","author":"Cordeiro","year":"2011","journal-title":"J Neurodev Disord."},{"key":"B88","doi-asserted-by":"publisher","first-page":"S183","DOI":"10.1542\/peds.2016-1159E","article-title":"FORWARD: a registry and longitudinal clinical database to study fragile X syndrome","volume":"139","author":"Sherman","year":"2017","journal-title":"Pediatrics."},{"key":"B89","doi-asserted-by":"publisher","first-page":"3276","DOI":"10.1007\/s10803-019-04148-0","article-title":"Improving the diagnosis of autism spectrum disorder in fragile X syndrome by adapting the social communication questionnaire and the social responsiveness scale-2","volume":"50","author":"Kidd","year":"2020","journal-title":"J Autism Dev Disord."},{"key":"B90","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1177\/1362361316672178","article-title":"Factors influencing the probability of a diagnosis of autism spectrum disorder in girls versus boys","volume":"21","author":"Duvekot","year":"2017","journal-title":"Autism."},{"key":"B91","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1111\/j.1365-2788.2009.01197.x","article-title":"Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population","volume":"53","author":"Moss","year":"2009","journal-title":"J Intellect Disabil Res."}],"container-title":["Frontiers in Psychiatry"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fpsyt.2022.852208\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T16:33:20Z","timestamp":1661358800000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fpsyt.2022.852208\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,16]]},"references-count":91,"alternative-id":["10.3389\/fpsyt.2022.852208"],"URL":"https:\/\/doi.org\/10.3389\/fpsyt.2022.852208","relation":{},"ISSN":["1664-0640"],"issn-type":[{"value":"1664-0640","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,16]]},"article-number":"852208"}}