{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:13:07Z","timestamp":1789812787239,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:00:00Z","timestamp":1789776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:00:00Z","timestamp":1789776000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To determine clinical features and evaluate the clinical utility of the term \u2018Rett\u2010like\u2019, which is commonly used to describe individuals who do not meet the clinical criteria for a Rett syndrome (RTT) diagnosis, but exhibit some features in keeping with the diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>A systematic review was conducted. Literature searches of Medline, CINAHL, and Embase (January 2010\u2013December 2025) were performed, identifying individuals described as Rett\u2010like, examining the extent to which they met major and minor RTT criteria, clinical features defined, and the linked genetic landscape.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In total, 166 individuals were described as Rett\u2010like; these were predominantly female, most with no period of typical development, and a minority experienced regression. Gait abnormalities and hand stereotypies were common; loss of hand skills and speech were not. Minor RTT criteria were uncommon. A wide genetic landscape emerged, encompassing 47 different genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>The term \u2018Rett\u2010like\u2019 commonly describes female individuals with developmental disability, typically with no period of regression, with stereotypies, abnormal gait, and seizures. The genetic landscape encompassing this disorder is broad. Clinical utility of this term is limited, with little to no evidence of diagnostic or prognostic use of \u2018Rett\u2010like\u2019.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.70534","type":"journal-article","created":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:40:31Z","timestamp":1789810831000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The utility of the term \u2018Rett\u2010like\u2019 in relation to Rett syndrome: A\u00a0systematic review"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2739-4092","authenticated-orcid":false,"given":"Anahita","family":"Khot","sequence":"first","affiliation":[{"name":"Rett Syndrome Clinic, Evelina London Children's Hospital Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5524-6177","authenticated-orcid":false,"given":"Daniel E","family":"Lumsden","sequence":"additional","affiliation":[{"name":"Rett Syndrome Clinic, Evelina London Children's Hospital Guy's and St Thomas' NHS Foundation Trust  London UK"},{"name":"Research Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences King's College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,19]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"723","article-title":"On a unusual brain atrophy syndrome in hyperammonemia in childhood","volume":"116","author":"Rett A.","year":"1966","journal-title":"Wien Med Wochenschr"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: Revised diagnostic criteria and nomenclature","volume":"68","author":"Neul JL","year":"2010","journal-title":"Annals of neurology"},{"key":"e_1_2_8_4_1","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ana.410230432","article-title":"The Rett Syndrome Diagnostic Criteria Work Group","volume":"23","author":"Diagnostic criteria for Rett syndrome","year":"1988","journal-title":"Ann Neurol"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s12017-014-8295-9","article-title":"Rett syndrome and MeCP2","volume":"16","author":"Liyanage VR","year":"2014","journal-title":"Neuromolecular Med"},{"key":"e_1_2_8_6_1","article-title":"Genetic landscape of rett syndrome spectrum: Improvements and challenges","author":"Vidal S","year":"2019","journal-title":"International Journal of Molecular Sciences"},{"key":"e_1_2_8_7_1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.ejpn.2019.04.006","article-title":"The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome","volume":"23","author":"Vidal S","year":"2019","journal-title":"European Journal of Paediatric Neurology"},{"key":"e_1_2_8_8_1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1097\/YCO.0000000000000389","article-title":"Current developments in the genetics of Rett and Rett\u2010like syndrome","volume":"31","author":"Ehrhart F","year":"2018","journal-title":"Curr Opin Psychiatry"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","DOI":"10.1136\/bmj.b2535","article-title":"Preferred reporting items for systematic reviews and meta\u2010analyses: the PRISMA statement","volume":"339","author":"Moher D","year":"2009","journal-title":"BMJ"},{"key":"e_1_2_8_10_1","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1111\/dmcn.14949","article-title":"Quality appraisal of systematic reviews of interventions for children with cerebral palsy reveals critically low confidence","volume":"63","author":"Kolaski K","year":"2021","journal-title":"Developmental medicine and child neurology"},{"key":"e_1_2_8_11_1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1136\/bmjebm-2017-110853","article-title":"Methodological quality and synthesis of case series and case reports","volume":"23","author":"Murad MH","year":"2018","journal-title":"BMJ Evid Based Med"},{"key":"e_1_2_8_12_1","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1186\/s12859-018-2533-3","article-title":"GOnet: a tool for interactive Gene Ontology analysis","volume":"19","author":"Pomaznoy M","year":"2018","journal-title":"BMC Bioinformatics"},{"key":"e_1_2_8_13_1","doi-asserted-by":"crossref","first-page":"D331","DOI":"10.1093\/nar\/gkw1108","article-title":"Expansion of the Gene Ontology knowledgebase and resources","volume":"45","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"e_1_2_8_14_1","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1080\/15622975.2019.1593501","article-title":"Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes","volume":"21","author":"Ehrhart F","year":"2020","journal-title":"World J Biol Psychiatry"},{"key":"e_1_2_8_15_1","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1101\/gad.992102","article-title":"Identification of a polymorphic, neuron\u2010specific chromatin remodeling complex","volume":"16","author":"Olave I","year":"2002","journal-title":"Genes & development"},{"key":"e_1_2_8_16_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101251","article-title":"Clinical and genetic delineation of autosomal recessive and dominant ACTL6B\u2010related developmental brain disorders","volume":"27","author":"Cali E","year":"2025","journal-title":"Genet Med"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/j.ajhg.2019.03.022","article-title":"Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons","volume":"104","author":"Bell S","year":"2019","journal-title":"American journal of human genetics"},{"key":"e_1_2_8_18_1","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.neuron.2007.06.001","article-title":"The role of the GluR2 subunit in AMPA receptor function and synaptic plasticity","volume":"54","author":"Isaac JT","year":"2007","journal-title":"Neuron"},{"key":"e_1_2_8_19_1","doi-asserted-by":"crossref","first-page":"3094","DOI":"10.1038\/s41467-019-10910-w","article-title":"AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders","volume":"10","author":"Salpietro V","year":"2019","journal-title":"Nat Commun"},{"key":"e_1_2_8_20_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006129","article-title":"Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome","volume":"12","author":"Li R","year":"2016","journal-title":"PLoS Genet"},{"key":"e_1_2_8_21_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1136\/jmg.2009.069732","article-title":"MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and\/or cerebral malformations","volume":"47","author":"Le Meur N","year":"2010","journal-title":"J Med Genet"},{"key":"e_1_2_8_22_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s10048-017-0535-3","article-title":"Monogenic disorders that mimic the phenotype of Rett syndrome","volume":"19","author":"Srivastava S","year":"2018","journal-title":"Neurogenetics"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.70534","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.70534","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.70534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:40:38Z","timestamp":1789810838000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.70534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,19]]},"references-count":21,"alternative-id":["10.1111\/dmcn.70534"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.70534","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,19]]},"assertion":[{"value":"2026-05-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"dmcn.70534"}}