{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T23:42:51Z","timestamp":1775691771308,"version":"3.50.1"},"reference-count":39,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T00:00:00Z","timestamp":1605225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\"><jats:title>Purpose<\/jats:title><jats:p>To report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between improvement in ocular alignment and changes in motor skills in this population.<\/jats:p><\/jats:sec><jats:sec id=\"sec002\"><jats:title>Design<\/jats:title><jats:p>Observational cross-sectional study.<\/jats:p><\/jats:sec><jats:sec id=\"sec003\"><jats:title>Methods<\/jats:title><jats:p>Medical records of pediatric patients with Angelman syndrome, who underwent strabismus surgery, were investigated. Collected data included: genotype, gender, age at the time of surgery, refractive error, pre-operative strabismus, surgical procedure, surgical outcome, gross and fine motor development assessment pre- and post-operatively.<\/jats:p><\/jats:sec><jats:sec id=\"sec004\"><jats:title>Results<\/jats:title><jats:p>Seventeen subjects, aged 3\u201315 years, were investigated. Fourteen patients were exotropic, three esotropic. Most patients presented astigmatism. Considering the exaggerated response to standard amounts of surgery and the risk of consecutive strabismus on long term follow-up reported by previous studies in children with developmental delay, a reduction of the amount of strabismus surgery was applied. Post-operatively, all patients presented with a significative reduction of the baseline deviation angle, with all esotropic patients and 7 exotropic patients (59%) achieving orthotropia. The surgical outcomes were variable according to the type and the amount of baseline strabismus, but no case presented with exaggerated surgical response. At baseline, patients showed important delays in all motor abilities, and, post-operatively, presented a significant improvement in walking and fine motor tasks. Pre- and post-operative motor abilities were negatively correlated to astigmatism, anisometropia, and amount of deviation.<\/jats:p><\/jats:sec><jats:sec id=\"sec005\"><jats:title>Conclusions<\/jats:title><jats:p>According to our data, the standard nomograms for strabismus surgery may be successfully applied in subjects with Angelman syndrome and exotropia. Our data suggest that the reduction of the deviation angle improves motor skills in strabismic pediatric patients with Angelman syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1371\/journal.pone.0242366","type":"journal-article","created":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T18:29:07Z","timestamp":1605292147000},"page":"e0242366","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":6,"title":["Strabismus surgery in Angelman syndrome: More than ocular alignment"],"prefix":"10.1371","volume":"15","author":[{"given":"Paola","family":"Michieletto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Pensiero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9039-8352","authenticated-orcid":true,"given":"Laura","family":"Diplotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Ronfani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Giangreco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Danieli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Bonanni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2020,11,13]]},"reference":[{"issue":"3","key":"pone.0242366.ref001","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1891\/0730-0832.36.3.142","article-title":"Angelman Syndrome: Identification and Management","volume":"36","author":"D Bonello","year":"2017","journal-title":"Neonatal Netw"},{"issue":"7","key":"pone.0242366.ref002","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.2217\/epi.15.70","article-title":"Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.","volume":"7","author":"JM Lasalle","year":"2015","journal-title":"Epigenomics"},{"key":"pone.0242366.ref003","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3389\/fnmol.2019.00109","article-title":"The Autism and Angelman Syndrome Protein Ube3A\/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions","volume":"12","author":"N Khatri","year":"2019","journal-title":"Front Mol Neurosci"},{"issue":"2","key":"pone.0242366.ref004","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/jcb.22958","article-title":"Neuronal chromatin dynamics of imprinting in development and disease","volume":"112","author":"KN Leung","year":"2011","journal-title":"J Cell Biochem"},{"issue":"3","key":"pone.0242366.ref005","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s13311-015-0361-y","article-title":"Angelman Syndrome","volume":"12","author":"SS Margolis","year":"2015","journal-title":"Neurotherapeutics"},{"issue":"11","key":"pone.0242366.ref006","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1111\/j.1528-1167.2009.02311.x","article-title":"Angelman syndrome: current understanding and research prospects","volume":"50","author":"B Dan","year":"2009","journal-title":"Epilepsia"},{"issue":"12","key":"pone.0242366.ref007","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1136\/jmg.38.12.834","article-title":"Distinct phenotypes distinguish the molecular classes of Angelman syndrome","volume":"38","author":"AC Lossie","year":"2001","journal-title":"J Med Genet"},{"issue":"4","key":"pone.0242366.ref008","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1590\/S1415-47572000000400004","article-title":"Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes","volume":"23","author":"C Fridman","year":"2000","journal-title":"Genet. Mol. Biol"},{"issue":"10","key":"pone.0242366.ref009","doi-asserted-by":"crossref","first-page":"647","DOI":"10.2165\/00148581-200305100-00001","article-title":"Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms","volume":"5","author":"R Guerrini","year":"2003","journal-title":"Paediatr Drugs"},{"issue":"5","key":"pone.0242366.ref010","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.a.31074","article-title":"Angelman syndrome 2005: updated consensus for diagnostic criteria","volume":"140","author":"CA Williams","year":"2006","journal-title":"Am J Med Genet A"},{"key":"pone.0242366.ref011","volume-title":"GeneReviews\u00ae","author":"AI Dagli","year":"1993\u20132020"},{"key":"pone.0242366.ref012","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3928\/0191-3913-19731101-10","article-title":"Ocular manifestations of the happy puppet syndrome","volume":"10","author":"JY Massey","year":"1973","journal-title":"J Pediatr Ophthalmol Strabismus"},{"issue":"1","key":"pone.0242366.ref013","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/13816819009012942","article-title":"Ocular findings in Angelman's (happy puppet) syndrome","volume":"11","author":"AJ Dickinson","year":"1990","journal-title":"Ophthalmic Paediatr Genet"},{"issue":"4","key":"pone.0242366.ref014","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1067\/mpa.2000.105305","article-title":"Ophthalmic manifestations of Angelman syndrome","volume":"4","author":"ML Mah","year":"2000","journal-title":"J AAPOS"},{"issue":"7","key":"pone.0242366.ref015","first-page":"502","article-title":"Angelman syndrome","volume":"64","author":"BB Schneider","year":"1993","journal-title":"J Am Optom Assoc"},{"issue":"2","key":"pone.0242366.ref016","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.jaapos.2010.12.013","article-title":"Ophthalmic findings in Angelman syndrome","volume":"15","author":"P Michieletto","year":"2011","journal-title":"J AAPOS"},{"issue":"2","key":"pone.0242366.ref017","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jaapos.2007.08.013","article-title":"Improvement in motor development following surgery for infantile esotropia","volume":"12","author":"JR Drover","year":"2008","journal-title":"J AAPOS"},{"issue":"3","key":"pone.0242366.ref018","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1080\/09273970903175896","article-title":"Predictability of strabismus surgery in children with developmental disorders and\/or psychomotor retardation","volume":"17","author":"LJ Van rijn","year":"2009","journal-title":"Strabismus"},{"issue":"6","key":"pone.0242366.ref019","doi-asserted-by":"crossref","first-page":"374","DOI":"10.3928\/0191-3913-19941101-06","article-title":"Exaggerated effect of bilateral medial rectus recession in developmentally delayed children","volume":"31","author":"JD Pickering","year":"1994","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"pone.0242366.ref020","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3928\/0191-3913-19950701-05","article-title":"Alignment Success following medial rectus recessions in normaland delayed children","volume":"32","author":"JD Pickering","year":"1995","journal-title":"J Pediatr Ophthalmol Strabismus"},{"issue":"3","key":"pone.0242366.ref021","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3109\/09273972.2014.907814","article-title":"Results of bilateral medial rectus recession for comitant esotropia in patients with developmental delay","volume":"22","author":"M Swaminathan","year":"2014","journal-title":"Strabismus"},{"issue":"1","key":"pone.0242366.ref022","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3109\/09273972.2015.1130064","article-title":"Long-Term Results of Bilateral Medial Rectus Muscle Recession in Children with Developmental Delay","volume":"24","author":"T Zehavi-Dorin","year":"2016","journal-title":"Strabismus"},{"issue":"1","key":"pone.0242366.ref023","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.jaapos.2011.10.013","article-title":"Long-term results of esotropia surgery in children with developmental delay","volume":"16","author":"Z Habot-Wilner","year":"2012","journal-title":"J AAPOS"},{"key":"pone.0242366.ref024","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.jaapos.2005.11.013","article-title":"Bilateral medial rectus muscle recession: Results in children with developmental delay compared with normally developed children","volume":"10","author":"Z Habot-Wilner","year":"2006","journal-title":"J AAPOS"},{"issue":"3","key":"pone.0242366.ref025","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1080\/09273972.2016.1210173","article-title":"Comparison of Surgical Success for Infantile Esotropia and Strabismus Associated with Neurological Impairment","volume":"24","author":"PB Kiziltunc","year":"2016","journal-title":"Strabismus"},{"issue":"51","key":"pone.0242366.ref026","doi-asserted-by":"crossref","first-page":"e18077","DOI":"10.1097\/MD.0000000000018077","article-title":"Ocular findings and strabismus surgery outcomes in Chinese children with Angelman syndrome: Three case reports","volume":"98","author":"H Ye","year":"2019","journal-title":"Medicine (Baltimore)"},{"issue":"5","key":"pone.0242366.ref027","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1097\/ICU.0000000000000086","article-title":"Strabismus surgery for children with developmental delay","volume":"25","author":"G Liu","year":"2014","journal-title":"Curr Opin Ophthalmol"},{"issue":"5","key":"pone.0242366.ref028","doi-asserted-by":"crossref","first-page":"e57826","DOI":"10.5812\/aapm.57826","article-title":"Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature","volume":"7","author":"ME Warner","year":"2017","journal-title":"Anesth Pain Med"},{"issue":"1","key":"pone.0242366.ref029","doi-asserted-by":"crossref","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":"S Micheletti","year":"2016","journal-title":"Ital J Pediatr"},{"issue":"7","key":"pone.0242366.ref030","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1097\/DBP.0b013e3181ee408e","article-title":"A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations","volume":"31","author":"JK Gentile","year":"2010","journal-title":"J Dev Behav Pediatr"},{"issue":"2","key":"pone.0242366.ref031","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ajmg.a.30065","article-title":"Cognitive and adaptive behavior profiles of children with Angelman syndrome","volume":"128A","author":"SU Peters","year":"2004","journal-title":"Am J Med Genet A"},{"key":"pone.0242366.ref032","volume-title":"Pediatric Ophthalmology and Strabismus","author":"D Taylor","year":"2005","edition":"3"},{"key":"pone.0242366.ref033","volume-title":"Gross Motor Function Measure (GMFM-66 E GMFM-88)\u2013Manuale dell\u2019utente","author":"DJ Russell","year":"2006","edition":"1"},{"key":"pone.0242366.ref034","volume-title":"Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)","author":"N Bayley","year":"2006"},{"key":"pone.0242366.ref035","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/mrdd.20076","article-title":"General measures of cognition for the preschool child","volume":"11","author":"EO Lichtenberger","year":"2005","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"pone.0242366.ref036","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1177\/112067210301300610","article-title":"Visual performances in specific syndromes associated with intellectual disability","volume":"13","author":"J Van Splunder","year":"2003","journal-title":"Eur J Ophthalmol"},{"key":"pone.0242366.ref037","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1320560224","article-title":"Angelman syndrome: Consensus for diagnostic criteria. Angelman Syndrome Foundation","volume":"56","author":"CA Williams","year":"1995","journal-title":"Am J Med Genet"},{"key":"pone.0242366.ref038","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/jmg.40.2.87","article-title":"Angelman syndrome:Areview of the clinical and genetic aspects","volume":"40","author":"J Clayton-Smith","year":"2003","journal-title":"J Med Genet"},{"issue":"4","key":"pone.0242366.ref039","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1469-8749.2004.tb00478.x","article-title":"Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome","volume":"46","author":"E Beckung","year":"2004","journal-title":"Dev Med Child Neurol"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0242366","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T01:05:36Z","timestamp":1669597536000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0242366"}},"subtitle":[],"editor":[{"given":"Ahmed","family":"Awadein","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2020,11,13]]},"references-count":39,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,11,13]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0242366","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,13]]}}}