ARID1B-related disorder in 87 adults: Natural history and self-sustainability

van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SM, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO, Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BB, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GW (2024)


Publication Type: Journal article

Publication year: 2024

Journal

Book Volume: 2

Article Number: 101873

DOI: 10.1016/j.gimo.2024.101873

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’ 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.

Authors with CRIS profile

Involved external institutions

Maastricht University NL Netherlands (NL) Kleinwachau - Sächsisches Epilepsiezentrum Radeberg gGmbH DE Germany (DE) 's Heeren Loo NL Netherlands (NL) Leiden University Medical Center NL Netherlands (NL) King Faisal Specialist Hospital & Research Centre SA Saudi Arabia (SA) Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière FR France (FR) Assistance Publique-Hôpitaux de Paris (AP-HP) FR France (FR) Children's Hospital of The King's Daughters GB United Kingdom (GB) Karolinska Institute SE Sweden (SE) Rigshospitalet DK Denmark (DK) Amsterdam University Medical Centers (Amsterdam UMC) / Amsterdam Universitair Medische Centra NL Netherlands (NL) Institut Curie FR France (FR) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) NL Netherlands (NL) Klinikum rechts der Isar DE Germany (DE) King Khalid University Hospital (KKUH) SA Saudi Arabia (SA) Donders Institute for Brain, Cognition and Behaviour NL Netherlands (NL) Istituto Giannina Gaslini IT Italy (IT) University of Genova / Università degli Studi di Genova IT Italy (IT) Università degli Studi di Siena (UNISI) / University of Siena IT Italy (IT) CRNL - Center for Research in Neuroscience in Lyon FR France (FR) University of Bologna / Università di Bologna IT Italy (IT) Centre hospitalier universitaire de Rennes / CHU Rennes FR France (FR) Centre hospitalier universitaire (CHU) de Dijon Bourgogne FR France (FR) University of Washington US United States (USA) (US) Princess Anne Hospital GB United Kingdom (GB) Nationwide Children's Hospital US United States (USA) (US) University Medical Center Groningen (UMCG) / Universitair Medisch Centrum Groningen NL Netherlands (NL) Comenius University Bratislava SK Slovakia (SK) University of Rouen / Université de Rouen FR France (FR) Baylor College of Medicine US United States (USA) (US) Università degli Studi di Napoli Federico II IT Italy (IT) Institut de Génétique & Développement de Rennes (IGDR) FR France (FR) Dartmouth-Hitchcock Medical Center (DHMC) US United States (USA) (US) Eli and Edythe L. Broad Institute of MIT and Harvard US United States (USA) (US) Azienda Ospedaliera “Ospedali Riuniti Villa Sofia-Cervello” IT Italy (IT) Berliner Institut für Gesundheitsforschung (BIH) DE Germany (DE) London Health Sciences Centre CA Canada (CA) University Medical Centre Utrecht (UMC Utrecht) NL Netherlands (NL) Zuidwester NL Netherlands (NL) Karadeniz Technical University / Karadeniz Teknik Üniversitesi (KTU) TR Turkey (TR) Erasmus University Medical Center (MC) NL Netherlands (NL) Acibadem Labmed TR Turkey (TR) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven BE Belgium (BE)

How to cite

APA:

van der Sluijs, P.J., Gösgens, M., Dingemans, A.J., Striano, P., Riva, A., Mignot, C.,... Santen, G.W. (2024). ARID1B-related disorder in 87 adults: Natural history and self-sustainability. Genetics in Medicine Open, 2. https://doi.org/10.1016/j.gimo.2024.101873

MLA:

van der Sluijs, P. J., et al. "ARID1B-related disorder in 87 adults: Natural history and self-sustainability." Genetics in Medicine Open 2 (2024).

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