{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T08:11:38Z","timestamp":1778055098287,"version":"3.51.4"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"vor","delay-in-days":36,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-026-05892-5","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T18:54:47Z","timestamp":1772564087000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report"],"prefix":"10.1186","volume":"20","author":[{"given":"Corentin","family":"Tasu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Oppetit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Galbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9verine","family":"Ouaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Zammouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Gazzano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Mourao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1994-5779","authenticated-orcid":false,"given":"Xavier","family":"Benarous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,3]]},"reference":[{"issue":"D1","key":"5892_CR1","doi-asserted-by":"publisher","first-page":"D1243","DOI":"10.1093\/nar\/gkae974","volume":"53","author":"G Perez","year":"2025","unstructured":"Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, et\u00a0al. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025;53(D1):D1243\u20139.","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"5892_CR2","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","volume":"84","author":"HV Firth","year":"2009","unstructured":"Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, et\u00a0al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensemble resources. Am J Hum Genet. 2009;84(4):524\u201333.","journal-title":"Am J Hum Genet"},{"issue":"7616","key":"5892_CR3","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et\u00a0al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285\u201391.","journal-title":"Nature"},{"issue":"4","key":"5892_CR4","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/j.cell.2019.01.017","volume":"176","author":"AA Pollen","year":"2019","unstructured":"Pollen AA, Bhaduri A, Andrews MG, Nowakowski TJ, Meyerson OS, Mostajo-Radji MA, et\u00a0al. Establishing cerebral organoids as models of human-specific brain evolution. Cell. 2019;176(4):743-756.e17.","journal-title":"Cell"},{"issue":"1\u20132","key":"5892_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0166-4328(02)00272-3","volume":"140","author":"G Riedel","year":"2003","unstructured":"Riedel G, Platt B, Micheau J. Glutamate receptor function in learning and memory. Behav Brain Res. 2003;140(1\u20132):1\u201347.","journal-title":"Behav Brain Res"},{"issue":"3","key":"5892_CR6","volume":"2","author":"JJ Chmielewska","year":"2021","unstructured":"Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, et\u00a0al. PTPN4 germline variants result in aberrant neurodevelopment and growth. HGG Adv. 2021;2(3): 100033.","journal-title":"HGG Adv"},{"issue":"6","key":"5892_CR7","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1111\/cge.13450","volume":"94","author":"K Szcza\u0142uba","year":"2018","unstructured":"Szcza\u0142uba K, Chmielewska JJ, Sokolowska O, Rydzanicz M, Szyma\u0144ska K, Feleszko W, et\u00a0al. Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. Clin Genet. 2018;94(6):581\u20135.","journal-title":"Clin Genet"},{"issue":"9","key":"5892_CR8","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1038\/ejhg.2014.249","volume":"23","author":"SL Williamson","year":"2015","unstructured":"Williamson SL, Ellaway CJ, Peters GB, Pelka GJ, Tam PPL, Christodoulou J. Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype. Eur J Hum Genet. 2015;23(9):1171\u20135.","journal-title":"Eur J Hum Genet"},{"issue":"Pt 4","key":"5892_CR9","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1107\/S1744309106010062","volume":"62","author":"K Kitano","year":"2006","unstructured":"Kitano K, Yusa F, Hakoshima T. Structure of dimerized radixin FERM domain suggests a novel masking motif in C-terminal residues 295\u2013304. Acta Crystallograph Sect F Struct Biol Cryst Commun. 2006;62(Pt 4):340\u20135.","journal-title":"Acta Crystallograph Sect F Struct Biol Cryst Commun"},{"key":"5892_CR10","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-7-85","volume":"20;7(1)","author":"AJ Baines","year":"2006","unstructured":"Baines AJ. A FERM-adjacent (FA) region defines a subset of the 4.1 superfamily and is a potential regulator of FERM domain function. BMC Genomics. 2006;20;7(1): 85.","journal-title":"BMC Genomics"},{"issue":"1","key":"5892_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41746-018-0049-x","volume":"1","author":"T Asselborn","year":"2018","unstructured":"Asselborn T, Gargot T, Kidzi\u0144ski \u0141, Johal W, Cohen D, Jolly C, et\u00a0al. Automated human-level diagnosis of dysgraphia using a consumer tablet. Npj Digit Med. 2018;1(1):1\u20139.","journal-title":"Npj Digit Med"},{"key":"5892_CR12","doi-asserted-by":"publisher","unstructured":"Gargot T, Asselborn T, Zammouri I, Brunelle J, Johal W, Dillenbourg P, et\u00a0al. It is not the robot who learns, it is me. Treating Severe Dysgraphia Using Child\u2013Robot Interaction. Front Psychiatry [Internet]. 2021 Feb 23 [cited 2025 Feb 14];12. Available from: https:\/\/doi.org\/10.3389\/fpsyt.2021.596055\/full","DOI":"10.3389\/fpsyt.2021.596055\/full"},{"issue":"1","key":"5892_CR13","first-page":"43","volume":"134","author":"JL Whited","year":"2007","unstructured":"Whited JL, Robichaux MB, Yang JC, Garrity PA. Ptpmeg is required for the proper establishment and maintenance of axon projections in the central brain of Drosophila. Dev Camb Engl. 2007;134(1):43\u201353.","journal-title":"Dev Camb Engl"},{"issue":"5","key":"5892_CR14","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1101\/lm.221206","volume":"13","author":"DBG Akalal","year":"2006","unstructured":"Akalal DBG, Wilson CF, Zong L, Tanaka NK, Ito K, Davis RL. Roles for Drosophila mushroom body neurons in olfactory learning and memory. Learn Mem. 2006;13(5):659\u201368.","journal-title":"Learn Mem"},{"key":"5892_CR15","doi-asserted-by":"crossref","unstructured":"Xie X, Tabuchi M, Brown MP, Mitchell SP, Wu MN, Kolodkin AL. The laminar organization of the Drosophila ellipsoid body is semaphorin-dependent and prevents the formation of ectopic synaptic connections. eLife. 2017;6:e25328.","DOI":"10.7554\/eLife.25328"},{"issue":"8","key":"5892_CR16","doi-asserted-by":"publisher","first-page":"2269","DOI":"10.1111\/j.1460-9568.2007.05829.x","volume":"26","author":"S Kina","year":"2007","unstructured":"Kina S, Tezuka T, Kusakawa S, Kishimoto Y, Kakizawa S, Hashimoto K, et\u00a0al. Involvement of protein-tyrosine phosphatase PTPMEG in motor learning and cerebellar long-term depression. Eur J Neurosci. 2007;26(8):2269\u201378.","journal-title":"Eur J Neurosci"},{"issue":"13","key":"5892_CR17","doi-asserted-by":"publisher","first-page":"5867","DOI":"10.1073\/pnas.88.13.5867","volume":"88","author":"MX Gu","year":"1991","unstructured":"Gu MX, York JD, Warshawsky I, Majerus PW. Identification, cloning, and expression of a cytosolic megakaryocyte protein-tyrosine-phosphatase with sequence homology to cytoskeletal protein 4.1. Proc Natl Acad Sci. 1991;88(13):5867\u201371.","journal-title":"Proc Natl Acad Sci"},{"issue":"21","key":"5892_CR18","doi-asserted-by":"publisher","first-page":"16167","DOI":"10.1074\/jbc.M909302199","volume":"275","author":"K Hironaka","year":"2000","unstructured":"Hironaka K, Umemori H, Tezuka T, Mishina M, Yamamoto T. The protein-tyrosine phosphatase PTPMEG interacts with glutamate receptor delta 2 and epsilon subunits. J Biol Chem. 2000;275(21):16167\u201373.","journal-title":"J Biol Chem"},{"issue":"1","key":"5892_CR19","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1093\/brain\/awy304","volume":"142","author":"V Strehlow","year":"2019","unstructured":"Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, et\u00a0al. GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain J Neurol. 2019;142(1):80\u201392.","journal-title":"Brain J Neurol"},{"issue":"4","key":"5892_CR20","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1038\/ng.3789","volume":"49","author":"JA Kosmicki","year":"2017","unstructured":"Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, et\u00a0al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017;49(4):504\u201310.","journal-title":"Nat Genet"},{"issue":"3","key":"5892_CR21","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1089\/cap.2008.0108","volume":"19","author":"GA Carlson","year":"2009","unstructured":"Carlson GA, Potegal M, Margulies D, Gutkovich Z, Basile J. Rages\u2014What are they and who has them? J Child Adolesc Psychopharmacol. 2009;19(3):281\u20138.","journal-title":"J Child Adolesc Psychopharmacol"},{"issue":"10","key":"5892_CR22","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1007\/s00787-020-01636-y","volume":"30","author":"X Benarous","year":"2021","unstructured":"Benarous X, Iancu C, Guil\u00e9 JM, Consoli A, Cohen D. Missing the forest for the trees? A high rate of motor and language impairments in disruptive mood dysregulation disorder in a chart review of inpatient adolescents. Eur Child Adolesc Psychiatry. 2021;30(10):1579\u201390.","journal-title":"Eur Child Adolesc Psychiatry"},{"issue":"7809","key":"5892_CR23","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf\u00f6ldi J, Wang Q, et\u00a0al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434\u201343.","journal-title":"Nature"},{"issue":"3","key":"5892_CR24","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1007\/s00787-024-02528-1","volume":"34","author":"JE Bernabe-Zu\u00f1iga","year":"2025","unstructured":"Bernabe-Zu\u00f1iga JE, Rodriguez-Lucenilla MI, Alias-Castillo AJ, Rueda-Ruzafa L, Roman P, Del Mar Sanchez-Joya M. Early interventions with parental participation and their implications on the neurodevelopment of premature children: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry. 2025;34(3):853\u201365.","journal-title":"Eur Child Adolesc Psychiatry"},{"issue":"4","key":"5892_CR25","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1001\/jamapediatrics.2020.4730","volume":"175","author":"M Sandbank","year":"2021","unstructured":"Sandbank M, Bottema-Beutel K, Woynaroski T. Intervention recommendations for children with autism in light of a changing evidence base. JAMA Pediatr. 2021;175(4):341\u20132.","journal-title":"JAMA Pediatr"},{"issue":"4","key":"5892_CR26","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.jphysparis.2013.03.012","volume":"107","author":"J Xavier","year":"2013","unstructured":"Xavier J, Tilmont E, Bonnot O. Children\u2019s synchrony and rhythmicity in imitation of peers: toward a developmental model of empathy. J Physiol-Paris. 2013;107(4):291\u20137.","journal-title":"J Physiol-Paris"},{"issue":"3","key":"5892_CR27","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1111\/cdev.12027","volume":"84","author":"CKP Roben","year":"2013","unstructured":"Roben CKP, Cole PM, Armstrong LM. Longitudinal relations among language skills, anger expression, and regulatory strategies in early childhood. Child Dev. 2013;84(3):891\u2013905.","journal-title":"Child Dev"},{"issue":"8","key":"5892_CR28","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1001\/jamapediatrics.2024.1832","volume":"178","author":"M Sandbank","year":"2024","unstructured":"Sandbank M, Pustejovsky JE, Bottema-Beutel K, Caldwell N, Feldman JI, Crowley LaPoint S, et\u00a0al. Determining associations between intervention amount and outcomes for young autistic children: a meta-analysis. JAMA Pediatr. 2024;178(8):763\u201373.","journal-title":"JAMA Pediatr"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-026-05892-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-05892-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-05892-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T11:39:13Z","timestamp":1775648353000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13256-026-05892-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,3]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["5892"],"URL":"https:\/\/doi.org\/10.1186\/s13256-026-05892-5","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,3]]},"assertion":[{"value":"15 May 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient to publish any potentially identifiable images or data in this article. This manuscript follows the CARE guideline for publishing case reports, with the completed CARE 2013 checklist provided in the Supplementary Materials. Ethical committees\/internal review boards: not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"174"}}