@article{9caf240790f640f1907e97c3c3fe4501,
title = "ARID1B-related disorder in 87 adults: Natural history and self-sustainability",
abstract = "Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents. Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients{\textquoteright} photographs taken at different ages clustered consistently, separate from matched controls. Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression.",
keywords = "Adult, ARID1B, Coffin–Siris syndrome, Developmental delay, Intellectual disability",
author = "{van der Sluijs}, {P. J.} and M. G{\"o}sgens and Dingemans, {A. J.M.} and P. Striano and A. Riva and C. Mignot and A. Faudet and G. Vasileiou and M. Walther and {Schrier Vergano}, {S. A.} and M. Alders and Alkuraya, {F. S.} and I. Alorainy and Alsaif, {H. S.} and B. Anderlid and I. Bache and {van Beek}, I. and M. Blanluet and {van Bon}, {B. W.} and T. Brunet and H. Brunner and Carriero, {M. L.} and P. Charles and N. Chatron and E. Coccia and C. Dubourg and Earl, {R. K.} and Eichler, {E. E.} and L. Faivre and N. Foulds and C. Graziano and Guerrot, {A. M.} and Hashem, {M. O.} and S. Heide and D. Heron and Hickey, {S. E.} and Hopman, {S. M.J.} and A. Kattentidt-Mouravieva and J. Kerkhof and {Klein Wassink-Ruiter}, {J. S.} and Kurtz-Nelson, {E. C.} and K. Ku{\v s}{\'i}kov{\'a} and M. Kvarnung and F. Lecoquierre and Leszinski, {G. S.} and L. Loberti and Magoulas, {P. L.} and F. Mari and I. Maystadt and D. Steenbeek and {Et al.}",
note = "Funding Information: Sequencing and analysis of individual 101 was provided by the Broad Institute Center for Mendelian Genomics funded by the National Human Genome Research Institute grants UM1HG008900 (with additional support from the National Eye Institute , and the National Heart, Lung and Blood Institute) and R01HG009141. Funding Information: This work was supported, in part, by US National Institutes of Health (NIH) grant MH101221 to E.E.E. (E.E.E. is an investigator of the Howard Hughes Medical Institute ), by \u201Cthe Fundamental Research Funds for the Central Universities\u201D starting fund (BMU2022RCZX038) to T.W., by the Ministero dell\u2019Istruzione, dell\u2019Universit\u00E0 e della Ricerca via PNRR-MUR-M4C2 PE0000006 Research Program \u201CMNESYS\u201D\u2014A multiscale integrated approach to the study of the nervous system in health and disease (to Pa.S.). IRCCS \u2018G. Gaslini\u2019 is a member of ERN-Epicare, and by the Dutch Organisation for Health Research and Development: ZON-MW grants 912-12-109 (to B.B.A.d.V.) and Donders Junior researcher grant 2019 (B.B.A.d.V.). Funding Information: We would like to thank Johan den Dunnen for his assistance in adding patient data to the Leiden Open Variant Database (LOVD). This work was supported, in part, by US National Institutes of Health (NIH) grant MH101221 to E.E.E. (E.E.E. is an investigator of the Howard Hughes Medical Institute), by \u201Cthe Fundamental Research Funds for the Central Universities\u201D starting fund (BMU2022RCZX038) to T.W. by the Ministero dell'Istruzione, dell'Universit\u00E0 e della Ricerca via PNRR-MUR-M4C2 PE0000006 Research Program \u201CMNESYS\u201D\u2014A multiscale integrated approach to the study of the nervous system in health and disease (to Pa.S.). IRCCS \u2018G. Gaslini\u2019 is a member of ERN-Epicare, and by the Dutch Organisation for Health Research and Development: ZON-MW grants 912-12-109 (to B.B.A.d.V.) and Donders Junior researcher grant 2019 (B.B.A.d.V.). Sequencing and analysis of individual 101 was provided by the Broad Institute Center for Mendelian Genomics funded by the National Human Genome Research Institute grants UM1HG008900 (with additional support from the National Eye Institute, and the National Heart, Lung and Blood Institute) and R01HG009141. Conceptualization: P.J.S. G.W.E.S.; Data curation: P.J.S. M.G.; Formal Analysis: P.J.S. M.G. A.J.M.D. G.W.E.S.; Funding acquisition: P.J.S. P.S. B.B.A.V. T.W. G.W.E.S.; Investigation: P.J.S. M.G.; Methodology: P.J.S. M.G. G.W.E.S.; Project administration: P.J.S. M.G.; Resources: P.J.S. M.G. A.J.M.D. P.S. A.R. C.M. A.F. N.D. G.V. M.W. S.A.S. M.A. F.S.A. I.A. H.S.A. B.A. I.B. I.B. M.B. B.W.B. T.B. H.B. M.L.C. P.C. N.C. E.C. C.D. R.K.E. E.E.E. L.F. N.F. C.G. A.M.G. M.O.H. S.H. D.H. S.E.H. S.M.J.H. A.K. J.S.K. E.C.K. K.K. M.K. F.L. G.S.L. L.L. P.L.M. F.M. I.M. G.M. J.M.M. S.M. G.N. M.O. S.O. J.R.O. K.P. R.P. M.P. A.M.P. B.P. A.P. H.L.R. An.R. A.R. J.A.R. M.R. E.S. P.S. M.S. G.S. F.M.S. G.S. K.E.S. E.U. H.V. B.B.A.V. D.W. T.W. P.Z. K.R.H. F.G.R. D.S. T.R. G.W.E.S.; Software: P.J.S. M.G. A.J.M.D.; Supervision: P.J.S. G.W.E.S.; Validation: P.J.S. A.J.M.D.; Visualization: P.J.S. M.G.; Writing-original draft: P.J.S.; Writing-review & editing: P.J.S. M.G. A.J.M.D. P.S. A.R. C.M. A.F. N.D. G.V. M.W. S.A.S. M.A. F.S.A. I.A. H.S.A. B.A. I.B. I.B. M.B. B.W.B. T.B. H.B. M.L.C. P.C. N.C. E.C. C.D. R.K.E. E.E.E. L.F. N.F. C.G. A.M.G. M.O.H. S.H. D.H. S.E.H. S.M.J.H. A.K. J.S.K. E.C.K. K.K. M.K. F.L. G.S.L. L.L. P.L.M. F.M. I.M. G.M. J.M.M. S.M. G.N. M.O. S.O. J.R.O. K.P. R.P. M.P. A.M.P. B.P. A.P. H.L.R. An.R. A.R. J.A.R. M.R. E.S. P.S. M.S. G.S. F.M.S. G.S. K.E.S. E.U. H.V. B.B.A.V. D.W. T.W. P.Z. K.R.H. F.G.R. D.S. T.R. G.W.E.S. The research included in this report was conducted in a manner consistent with the principles of research ethics. The Leiden University Medical Center's Institutional Review Board granted approval waivers for using de-identified and aggregated data (no: G18.098) without requiring specific informed consent. Patient data was de-identified using assigned numbers, and, when feasible, informed consent was obtained through the referring clinician. Written consent was obtained and archived for all included patient photos. Publisher Copyright: {\textcopyright} 2024 The Authors",
year = "2024",
month = jan,
day = "1",
doi = "10.1016/j.gimo.2024.101873",
language = "English",
volume = "2",
journal = "Genetics in Medicine Open",
issn = "2949-7744",
publisher = "Elsevier B.V.",
}