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

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

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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