{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:17:50Z","timestamp":1777868270196,"version":"3.51.4"},"reference-count":97,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Background\/objectives<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is a common genetic disorder often accompanied by cognitive, behavioral, and neurodevelopmental disorders. While tumor-related manifestations are well-documented, less attention has been paid to standardized assessment of neuropsychological profiles in affected children. This systematic review aimed to evaluate current assessment practices for cognitive, behavioral, and neurodevelopmental domains in pediatric NF1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A systematic search was conducted across PubMed, Scopus, Web of Science and Embase databases (April 2015\u2013April 2025) using predefined keywords and Boolean logic. Eligibility criteria included original studies assessing neurodevelopmental, cognitive, motor, behavioral, or social\u2013emotional outcomes in pediatric NF1 populations (0\u201318\u202fyears). Exclusion criteria comprised adult-only samples, reviews, non-English publications, and animal models. Study selection followed PRISMA guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      From 414 identified records, 84 studies met inclusion criteria. A total of 35 domains were explored, with cognitive functioning (\n                      <jats:italic>n<\/jats:italic>\n                      \u202f=\u202f41), executive functioning (\n                      <jats:italic>n<\/jats:italic>\n                      \u202f=\u202f33), behavior (\n                      <jats:italic>n<\/jats:italic>\n                      \u202f=\u202f28), and attention (\n                      <jats:italic>n<\/jats:italic>\n                      \u202f=\u202f22) most frequently assessed. Over 110 assessment tools were used, including the Wechsler Intelligence Scales, BRIEF, CBCL, and Conners Rating Scales. However, 52.4% of studies focused on children aged 6\u202fyears or older, indicating that preschool-aged children remain underrepresented in the literature and limiting opportunities for early identification. Few studies employed validated diagnostic instruments for ASD or ADHD (e.g., ADOS-2, ADI-R, and K-SADS), while most relied on symptom rating scales such as the CBCL or Conners questionnaires, which assess behavioral traits but do not establish a clinical diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Current assessment practices in pediatric NF1 are heterogeneous and often neglect early developmental windows. The integration of standardized, age-appropriate tools and early neurodevelopmental screening\u2014supported by interdisciplinary teams including neuropsychomotor therapists\u2014may improve detection and management of NF1-related neurocognitive phenotypes. A shared framework for assessment is essential to enhance clinical care and research comparability.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Systematic review registration<\/jats:title>\n                    <jats:p>\n                      <jats:ext-link>https:\/\/www.crd.york.ac.uk\/PROSPERO\/view\/CRD420251119558<\/jats:ext-link>\n                      , identifier CRD420251119558.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2026.1794510","type":"journal-article","created":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:41:36Z","timestamp":1777549296000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Is cognitive profiling in NF1 still optional? A systematic review of current assessment practices"],"prefix":"10.3389","volume":"17","author":[{"given":"Andrea","family":"Santangelo","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Department, IRCCS G. Gaslini Institute","place":["Genoa, Italy"]},{"name":"Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Sardi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Bergonzini","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell\u2019Et\u00e0 Pediatrica","place":["Bologna, Italy"]},{"name":"Department of Medical and Surgical Sciences (DIMEC), University of Bologna","place":["Bologna, Italy"]},{"name":"International PhD College, Collegio Superiore, University of Bologna","place":["Bologna, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Luongo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Mela","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"De Pasquale","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC), University of Bologna","place":["Bologna, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Cecconi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell\u2019Et\u00e0 Pediatrica","place":["Bologna, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Stella","family":"Vari","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Department, IRCCS G. Gaslini Institute","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duccio Maria","family":"Cordelli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell\u2019Et\u00e0 Pediatrica","place":["Bologna, Italy"]},{"name":"Department of Medical and Surgical Sciences (DIMEC), University of Bologna","place":["Bologna, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Diana","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Department, IRCCS G. Gaslini Institute","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Department, IRCCS G. Gaslini Institute","place":["Genoa, Italy"]},{"name":"Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.1111\/dmcn","article-title":"Neurodevelopmental disorders in children with neurofibromatosis type 1","volume":"59","author":"Vogel","year":"2017","journal-title":"Dev Med Child Neurol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/bs.pbr.2018.09.014","article-title":"Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms","volume":"241","author":"Molosh","year":"2018","journal-title":"Prog Brain Res"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1017\/S1355617713001227","article-title":"Cognitive and psychosocial phenotype of young children with neurofibromatosis-1","volume":"20","author":"Klein-Tasman","year":"2014","journal-title":"J Int Neuropsychol Soc"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.tins.2012.12.002","article-title":"Modeling cognitive dysfunction in neurofibromatosis-1","volume":"36","author":"Diggs-Andrews","year":"2013","journal-title":"Trends Neurosci"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"2555","DOI":"10.1002\/acn3.50952","article-title":"Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1","volume":"6","author":"Payne","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1212\/01.wnl.0000179303.72345.ce","article-title":"The nature and frequency of cognitive deficits in children with neurofibromatosis type 1","volume":"65","author":"Hyman","year":"2005","journal-title":"Neurology"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/S11910-003-0064-3","article-title":"Neurocognitive dysfunction in children with neurofibromatosis type 1","volume":"3","author":"Rosser","year":"2003","journal-title":"Curr Neurol Neurosci Rep"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1097\/RCT.0000000000001134","article-title":"Importance of thalamostriatal pathway associated with neurocognitive dysfunctions in children with neurofibromatosis type 1: diffusion tensor imaging findings","volume":"45","author":"Cesme","year":"2021","journal-title":"J Comput Assist Tomogr"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1080\/09297049.2010.542746","article-title":"Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior","volume":"17","author":"Payne","year":"2011","journal-title":"Child Neuropsychol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.ejpn.2024.05.016","article-title":"Distinct attentional and executive profiles in neurofibromatosis type 1: is there difference with primary attention deficit\u2013hyperactivity disorder?","volume":"51","author":"Routier","year":"2024","journal-title":"Eur J Paediatr Neurol"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1080\/21622965.2012.704185","article-title":"Is executive function specifically impaired in children with Neurofibromatosis type 1? 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