Evidence map›Paper›PMID 38857477›Full record

ArticleNeurology2024

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, Brielle Formanowski, Isabella Peixoto de Barcelos, Anjana Sevagamoorthy, Nicholson B Modesti, Lauren Charlton, Stacy V Cusack, Ariel Vincent and 13 more

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Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 citing papers in PubMed.

  1. Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026
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5 · Who and what money

Authors and funding

23 authors.

Francesco GavazziFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Ylenia VaiaFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Sarah WoidillFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Brielle FormanowskiFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Isabella Peixoto de BarcelosFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Anjana SevagamoorthyFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Nicholson B ModestiFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Lauren CharltonFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Stacy V CusackFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Ariel VincentFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Russell D'AielloFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Abbas JawadFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Jessica GalliFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Costanza VaresioFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Elisa FazziFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Simona OrcesiFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Allan M GlanzmanFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Scott LorchFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Sara B DeMauroFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Danielle Guez-BarberFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Amy T WaldmanFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-1054-0815
Adeline VanderverFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-6290-6751
Laura A AdangFrom the Divisions of Neurology (F.G., Y.V., S.W., I.P.d.B., A.S., N.B.M., L.C., D.G.-B., A.T.W., A. Vanderver, L.A.A.), and Neonatology (B.F., S.L., S.B.D.), and Departments of Occupational Therapy (S.V.C., A. Vincent), Biomedical & Health Informatics (R.D.A.), Pediatrics (A.J.), and Physical Therapy (A.M.G.), Children's Hospital of Philadelphia, PA; University of Milan (Y.V.); Department of Clinical and Experimental Sciences (J.G., E.F.), University of Brescia; Unit of Child Neurology and Psychiatry (J.G., E.F.), ASST Spedali Civili of Brescia; Unit of Child Neurology and Psychiatry (C.V., S.O.), Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia; Department of Brain and Behavioral Sciences (S.O.), University of Pavia, Italy; and Department of Neurology (D.G.-B., A.T.W., A. Vanderver, L.A.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-8454-1116

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Adeline Lucie Vanderver · 2019 to 2026
$14.3M
Clinical Outcomes in Aicardi Goutières SyndromeU01NS106845 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2019 to 2023
$7.5M
Clinical measures in Aicardi Goutieres SyndromeK23NS114113 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI ADANG, LAURA ANN · 2019 to 2023
$947k
NINDS NIH HHS K23 NS114113NINDS NIH HHS U01 NS106845NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

BACKGROUND AND

objectivesAicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of receptive language impairment is uncharacterized. We sought to characterize cognitive function in AGS-affected children using assessment tools with reduced dependence on motor abilities and compare cognitive testing outcomes with overall severity and parental assessment of adaptive behavior.

methodsWe performed a cross-sectional study. Children were recruited as part of the Myelin Disorders Biorepository Project at the Children's Hospital of Philadelphia. We included individuals with a confirmed diagnosis of AGS. We administered the Leiter International Performance Scale, third edition (Leiter-3), and the Vineland Adaptive Behavior Scale, third edition (VABS-3), in the context of research encounters. Motor skills were categorized by AGS Severity Scale mobility levels. Descriptive statistics and Spearman's rank correlation were used to compare assessments. Mann-Whitney and Kruskal-Wallis tests with correction with Dunn's multiple comparison test were used to compare test performance between mobility groups.

resultsCognitive and adaptive behavior performance was captured in 57 children. The mean age at encounters was 8.51 (SD 5.15) years. The median (IQR) Leiter-3 score was 51 (interquartile range [IQR] 60), with administration failure in 20 of 57 (35%) individuals. On the VABS-3, the Motor Domain (median 29, IQR 36.25) was more impacted than the Communication (median 50, IQR 52), Daily Living Skills (median 52, IQR 31), and Socialization (median 54, IQR 40) Domains ( DISCUSSION: Parental assessment of function by the VABS-3 correlated with directly assessed performance measures. Our data underscore the potential value of VABS-3 and Leiter-3 as tools to assess psychometric function in AGS. With a deeper understanding of our patients' abilities, we can better guide clinicians and families to provide appropriate support and personalized interventions to empower children with leukodystrophies to maximize their communication and educational potential.

Indexed as

Autoimmune Diseases of the Nervous SystemNervous System MalformationsAdaptation, PsychologicalAdolescentChildChild, PreschoolCognitionCross-Sectional StudiesFemaleHumansMaleMotor SkillsNeuropsychological TestsSeverity of Illness Index

Identifiers

PMID38857477
PMCPMC11226315

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.