{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T19:00:48Z","timestamp":1768244448538,"version":"3.49.0"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,1,2]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>The American College of Medical Genetics and Genomics (ACMG) and other professional organisations recommend whole exome sequencing (WES) as a first-tier genetic test for paediatric patients with congenital anomalies, developmental delay and\/or intellectual disability, which has contributed to rapidly increasing rates of genetic testing and diagnosis in this population. We present a case of Rett syndrome diagnosed in early childhood following an atypical presentation of the condition with no regression using WES. This diagnosis was facilitated by a multidisciplinary outpatient neurodevelopmental genetics programme. Non-genetics providers trained in consent for genetic testing allowed for ample access to a comprehensive genetics work-up. The subsequent diagnosis of Rett syndrome qualified this patient for additional resources, novel interventions and family support.<\/jats:p>","DOI":"10.1136\/bcr-2025-269337","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T15:31:00Z","timestamp":1768231860000},"page":"e269337","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic"],"prefix":"10.1136","volume":"19","author":[{"given":"Casaundra","family":"Gutowski","sequence":"first","affiliation":[{"name":"Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molly","family":"Lombard","sequence":"additional","affiliation":[{"name":"Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9418-7915","authenticated-orcid":false,"given":"Evangeline","family":"Kurtz-Nelson","sequence":"additional","affiliation":[{"name":"Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celanie","family":"Christensen","sequence":"additional","affiliation":[{"name":"Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,12]]},"reference":[{"key":"2026011207302188000_19.1.e269337.1","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.526779","article-title":"Genetic Testing in Neurodevelopmental Disorders","volume":"9","author":"Savatt","year":"2021","journal-title":"Front Pediatr"},{"key":"2026011207302188000_19.1.e269337.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6"},{"key":"2026011207302188000_19.1.e269337.3","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0622-4","article-title":"Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays","volume":"12","author":"Zurynski","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"2026011207302188000_19.1.e269337.4","unstructured":"Kaur S , Christodoulou J . MECP2 disorders. In: GeneReviews\u00ae. Seattle (WA): University of Washington, 1993-2025. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1497\/"},{"key":"2026011207302188000_19.1.e269337.5","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1080\/17518423.2017.1323970","article-title":"Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach","volume":"21","author":"Marschik","year":"2018","journal-title":"Dev Neurorehabil"},{"key":"2026011207302188000_19.1.e269337.6","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/s00109-003-0444-9","article-title":"Rett syndrome: the complex nature of a monogenic disease","volume":"81","author":"Renieri","year":"2003","journal-title":"J Mol Med (Berl)"},{"key":"2026011207302188000_19.1.e269337.7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.7.1119"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T15:31:05Z","timestamp":1768231865000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,12]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-269337"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269337","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}