{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:35:38Z","timestamp":1778200538055,"version":"3.51.4"},"reference-count":34,"publisher":"SAGE Publications","issue":"3-4","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100000098","name":"Clinical Center","doi-asserted-by":"publisher","award":["K23NS114113"],"award-info":[{"award-number":["K23NS114113"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"Clinical Center","doi-asserted-by":"publisher","award":["U01 NS106845"],"award-info":[{"award-number":["U01 NS106845"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"Clinical Center","doi-asserted-by":"publisher","award":["U54TR002823"],"award-info":[{"award-number":["U54TR002823"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Cure Pennsylvania Grant"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>Aicardi-Gouti\u00e8res syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. Despite a recognition of overall motor impairment, fine and visual motor skills are undercharacterized. We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Gouti\u00e8res syndrome population as captured by a standard outcome measure, the Peabody Developmental Motor Scales (PDMS-2), which will be proportional to overall disease severity.<\/jats:p>\n                  <jats:p>In a cohort of 74 subjects, the Peabody Developmental Motor Scales\u20132 grasping and visual-motor integration subtests were administered concurrently with the Aicardi-Gouti\u00e8res syndrome Severity Scale (severe [range 0-3], moderate [range 4-8], and attenuated [range 9-11]). The cohort was also compared by genotype and performance as defined by raw scores. The distribution of Peabody Developmental Motor Scales\u20132 scores within a genotype was assessed by interquartile ranges (IQRs).<\/jats:p>\n                  <jats:p>Peabody Developmental Motor Scales\u20132 grasping and visual-motor integration performance was the least variable in the TREX1-cohort (IQR: 10.00-12.00) versus the SAMHD1 and IFIH1 cohorts (IQR: 51.00-132.00 and 48.50-134.00, respectively). Neurologic severity highly correlated with both fine and visual motor skills (Spearman correlation: r\u2009=\u20090.87, 0.91, respectively). A floor effect (lowest 10% of possible scores) was observed within the severe cohort (n\u2009=\u200932\/35), whereas a ceiling effect (top 10%) was observed in the attenuated cohort (n\u2009=\u200913\/17).<\/jats:p>\n                  <jats:p>This study characterized the spectrum of fine and visual motor function in the Aicardi-Gouti\u00e8res syndrome population, which correlated with overall neurologic dysfunction. The Peabody Developmental Motor Scales\u20132 grasping and visual-motor integration showed promise as potential assessment tools in moderate and attenuated Aicardi-Gouti\u00e8res syndrome cohorts. A better understanding of fine and visual motor function in this population will benefit clinical care and clinical trial design.<\/jats:p>","DOI":"10.1177\/08830738241241786","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T03:35:52Z","timestamp":1711510552000},"page":"147-154","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Characterization of Fine Motor and Visual Motor Skills in Aicardi-Gouti\u00e8res Syndrome"],"prefix":"10.1177","volume":"39","author":[{"given":"Stacy V.","family":"Cusack","sequence":"first","affiliation":[{"name":"Department of Occupational Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4908-8395","authenticated-orcid":false,"given":"Francesco","family":"Gavazzi","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella Peixoto","family":"de Barcelos","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholson B.","family":"Modesti","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Woidill","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3916-847X","authenticated-orcid":false,"given":"Brielle","family":"Formanowski","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara B.","family":"DeMauro","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott","family":"Lorch","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariel","family":"Vincent","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abbas F.","family":"Jawad","sequence":"additional","affiliation":[{"name":"Division of General Peds, Children's Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of 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