{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:36:56Z","timestamp":1790905016833,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T00:00:00Z","timestamp":1692316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF\u20102019\u201012369368"],"award-info":[{"award-number":["RF\u20102019\u201012369368"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente 2022"],"award-info":[{"award-number":["Ricerca Corrente 2022"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      This retrospective cross\u2010sectional work included 59 patients (33 male; mean age 9\u2009years 2\u2009months, standard deviation 6\u2009years 3\u2009months, range 4\u2009months to 23\u2009years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro\u2010ophthalmological, developmental\/cognitive) and diagnostic (e.g. genetic testing, neuroimaging, systemic involvement) evaluations were collected in a data set during a review of medical records. Clinical and diagnostic variables were described in terms of raw counts and percentages. A\n                      <jats:italic>\u03c7<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      test was conducted to investigate their association with neuropsychological skills.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Ocular motor apraxia was highly represented in our cohort (75%), with a high prevalence of refractive defects and retinal abnormalities. Developmental delay\/intellectual disability was frequent (in 69.5% of the sample), associated with retinal dystrophy (\n                      <jats:italic>p\u2009=<\/jats:italic>\n                      \u20090.047) and reduced visual acuity both for near (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.014) and for far distances (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.017).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>On the basis of the relevance of oculomotor and perceptual alterations and their impact on overall and cognitive impairment, we encourage early and multidisciplinary assessment and follow\u2010up of visual function in children with Joubert syndrome. This would help in planning a personalized rehabilitation to sustain functional vision. Further studies will be important to explore the link between biological aspects and global functioning in children with Joubert syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>What this paper adds<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Perceptual deficits and oculomotor impairments frequently coexist in Joubert syndrome.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Retinal dysfunction may be present despite the absence of funduscopic abnormalities.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Both perceptual and oculomotor impairments negatively affect cognitive development in Joubert syndrome.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.15732","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T17:21:09Z","timestamp":1692638469000},"page":"379-388","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Visual function in children with Joubert syndrome"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1239-9904","authenticated-orcid":false,"given":"Federica","family":"Morelli","sequence":"first","affiliation":[{"name":"Department of Brain and Behavioural Sciences University of Pavia  Pavia Italy"},{"name":"Developmental Neuro\u2010ophthalmology Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Toni","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioural Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Saligari","sequence":"additional","affiliation":[{"name":"Developmental Neuro\u2010ophthalmology Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"D'Abrusco","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Serpieri","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Ballante","sequence":"additional","affiliation":[{"name":"Department of Political and Social Sciences University of Pavia  Pavia Italy"},{"name":"BioData Science Center IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Ruberto","sequence":"additional","affiliation":[{"name":"Developmental Neuro\u2010ophthalmology Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioural Sciences University of Pavia  Pavia Italy"},{"name":"Child Neuropsychiatry Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Neurogenetics Research Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Signorini","sequence":"additional","affiliation":[{"name":"Developmental Neuro\u2010ophthalmology Unit IRCCS Mondino Foundation  Pavia Italy"},{"name":"Child Neuropsychiatry Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Developmental Neuro\u2010ophthalmology Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70136-4"},{"key":"e_1_2_10_3_1","first-page":"1","article-title":"Get your molar tooth right: Joubert syndrome misdiagnosis unmasked by whole\u2010exome sequencing","author":"D'Abrusco F","year":"2021","journal-title":"The Cerebellum."},{"key":"e_1_2_10_4_1","volume-title":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","author":"Gana S"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4843"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-190041"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108114"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes9120605"},{"key":"e_1_2_10_9_1","article-title":"Joubert syndrome presenting with motor delay and oculomotor apraxia","volume":"2011","author":"Gill H","year":"2011","journal-title":"Case Rep Pediatr."},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20105\u201020"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2018.05.026"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61399"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.868974"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38272"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2018.12.003"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11030351"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41433\u2010018\u20100216\u2010y"},{"issue":"2","key":"e_1_2_10_18_1","first-page":"1","article-title":"Eye movements in children: characteristics in typical and atypical development and assessment in practice","volume":"19","author":"Vinuela\u2010Navarro V.","year":"2018","journal-title":"Optom Pract."},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755\u20103768.1980.tb08291.x"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(97)88335-6"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.78.10.795"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442\u20109071.2003.00691.x"},{"key":"e_1_2_10_23_1","volume":"2014","author":"Vervloed MPJ","year":"2000","journal-title":"New age levels of Reynell\u2010Zinkin developmental scales for young children with visual impairments."},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.1980.tb00792.x"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-0153-4_11"},{"key":"e_1_2_10_26_1","first-page":"10","volume-title":"Leiter international performance scale\u2010revised (Leiter\u2010R)","author":"Roid GH","year":"1997"},{"key":"e_1_2_10_27_1","volume-title":"Encyclopedia of Child Behavior and Development","author":"Vaughn\u2010Blount K","year":"2011"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2020.00768"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2016-309975"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103832"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2018.12.003"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-020-01432-9"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1682\/JRRD.2015.06.0113"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000000456"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2014.02.007"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102015\u2010213127"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol\u20102014\u2010305283"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3299"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2017.07.008"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.12.038"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.204"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37938"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb00983.x"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/opo.12854"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.3390\/children9060921"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2015.09.013"},{"issue":"5","key":"e_1_2_10_48_1","article-title":"Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders","volume":"15","author":"Mano H","year":"2023","journal-title":"Cureus."}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15732","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T00:11:47Z","timestamp":1723421507000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.15732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,18]]},"references-count":47,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/dmcn.15732"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.15732","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,18]]},"assertion":[{"value":"2022-08-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}