{"doi":"10.1177/08830738241241786","title":"Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome","abstract":"Aicardi-Goutières 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-Goutières syndrome population as captured by a standard outcome measure, the Peabody Developmental Motor Scales (PDMS-2), which will be proportional to overall disease severity. In a cohort of 74 subjects, the Peabody Developmental Motor Scales–2 grasping and visual-motor integration subtests were administered concurrently with the Aicardi-Goutières 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–2 scores within a genotype was assessed by interquartile ranges (IQRs). Peabody Developmental Motor Scales–2 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 = 0.87, 0.91, respectively). A floor effect (lowest 10% of possible scores) was observed within the severe cohort (n = 32/35), whereas a ceiling effect (top 10%) was observed in the attenuated cohort (n = 13/17). This study characterized the spectrum of fine and visual motor function in the Aicardi-Goutières syndrome population, which correlated with overall neurologic dysfunction. The Peabody Developmental Motor Scales–2 grasping and visual-motor integration showed promise as potential assessment tools in moderate and attenuated Aicardi-Goutières syndrome cohorts. A better understanding of fine and visual motor function in this population will benefit clinical care and clinical trial design.","journal":"Journal of Child Neurology","year":2024,"id":470743,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9308,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":274379,"name":"Francesco Gavazzi","orcid":"0000-0002-4908-8395","position":1,"is_corresponding":false},{"id":385125,"name":"Isabella Peixoto de Barcelos","orcid":"0000-0002-3843-4520","position":2,"is_corresponding":false},{"id":1096164,"name":"Nicholson Modesti","orcid":"0009-0006-4855-8478","position":3,"is_corresponding":false},{"id":763712,"name":"Sarah Woidill","orcid":null,"position":4,"is_corresponding":false},{"id":1055887,"name":"Brielle Formanowski","orcid":"0009-0009-3916-847X","position":5,"is_corresponding":false},{"id":355528,"name":"Sara B. DeMauro","orcid":"0000-0003-1647-4000","position":6,"is_corresponding":false},{"id":258995,"name":"Scott A. Lorch","orcid":"0000-0003-3855-6752","position":7,"is_corresponding":false},{"id":1096508,"name":"Ariel Vincent","orcid":null,"position":8,"is_corresponding":false},{"id":333012,"name":"Abbas F. Jawad","orcid":null,"position":9,"is_corresponding":false},{"id":424173,"name":"Timothy Estilow","orcid":"0000-0003-4859-0487","position":10,"is_corresponding":false},{"id":1093341,"name":"Allan M. Glanzman","orcid":"0000-0002-7145-2608","position":11,"is_corresponding":false},{"id":274411,"name":"Adeline Vanderver","orcid":"0000-0002-6290-6751","position":12,"is_corresponding":false},{"id":274380,"name":"Laura Adang","orcid":"0000-0002-8454-1116","position":13,"is_corresponding":false},{"id":331681,"name":"Stacy V. Cusack","orcid":"0009-0001-9164-3057","position":0,"is_corresponding":true}],"reference_count":32,"raw_metadata":null,"created_at":"2026-07-19T02:05:40.740958Z","pmid":"38532733","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}