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Author Notes:


Conceptualization, N.A; methodology, N.A., A.C. and D.L.; software, E.W.H.; formal analysis, E.W.H.; writing—original draft preparation, N.A.; writing review and editing, N.A., A.C., E.W.H. and D.L.; and funding acquisition, N.A. All authors have read and agreed to the published version of the manuscript.

The authors wish to thank all patients with Fabry who participate so generously in this research regarding Fabry disease and their lived experiences.


Research Funding:

This research was funded by Pfizer Inc., grant number WI194299.

Nadia Ali, Ph.D. received research support from Sanofi Genzyme, Shire Takeda, BioMarin, Amicus, and Pfizer, as well as lecturers’ honoraria from Sanofi Genzyme, BioMarin, Amicus, and Vitaflo. These activities were monitored and in compliance with the conflicts of interest policies at Emory University. Amanda Caceres, M.MSc, CGC received research support from Genzyme and Pfizer. Eric W Hall, Ph.D. has no conflicts of interest to report. Dawn Laney, M.S., CGC consults for Genzyme, Amicus, and Shire and is a study coordinator in clinical trials sponsored by Genzyme, Amicus, and Protalix. She is a co-founder of ThinkGenetic, Inc. She also received research funding from Alexion, Amicus, Genzyme, Pfizer, Retrophin, Shire, and Synageva. These activities are monitored and are in compliance with the conflicts of interest policies at Emory University. The funders had no role in the design of the study; in the collection, analyses, or interpretation of the data; in the writing of the manuscript; or in the decision to publish the results.


  • Science & Technology
  • Life Sciences & Biomedicine
  • Medicine, General & Internal
  • General & Internal Medicine
  • Fabry disease
  • attention
  • Attention Deficit
  • Hyperactivity
  • cognition

Attention Deficits and ADHD Symptoms in Adults with Fabry Disease-A Pilot Investigation


Journal Title:



Volume 10, Number 15


Type of Work:

Article | Final Publisher PDF


The present pilot study examines subjective reported symptoms of attention-deficit/ hyperactivity (AD/H) in adults with Fabry disease (FD) in comparison with existing normative control data. Existing data from 69 adults with FD via the Achenbach System of Empirically Based Assessment Adult Self-Report questionnaire were analyzed. The results demonstrated a higher prevalence of AD/H symptoms in adults with FD than in the general United States population, with a roughly equal endorsement of Inattention/Attention Deficit symptoms (AD), HyperactivityImpulsivity (H-I) symptoms, and Combined Inattention/hyperactivity-impulsivity (C) symptoms. No gender differences were observed. While all subjects endorsing H-I symptoms fell into the symptomatic range on the AD/H scale, only two-thirds of subjects endorsing AD did so. This suggests that attention difficulties with FD are not solely explained by ADHD. Adults with FD who endorsed the AD, H-I, and C symptoms were also more likely to report mean adaptive functioning difficulties. These findings support the growing literature regarding attention difficulties in adults with FD, as well as suggesting a previously unrecognized risk of AD/H symptoms. Future research involving the objective assessment of ADHD in adults with FD is recommended. When serving adults with FD clinically, healthcare professionals should address multiple areas of care, including physical, psychological, and cognitive arenas.

Copyright information:

© 2021 by the authors.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
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