Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.

Autor: Pierpont EI; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Isaia AR; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., McCoy E; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Brown SJ; Health Sciences Library, University of Minnesota, Minneapolis, Minnesota, USA., Gupta AO; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Eisengart JB; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Jazyk: angličtina
Zdroj: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 174-193. Date of Electronic Publication: 2022 Dec 26.
DOI: 10.1002/jimd.12581
Abstrakt: X-linked adrenoleukodystrophy (ALD) is a rare inherited neurological disorder that poses considerable challenges for clinical management throughout the lifespan. Although males are generally more severely affected than females, the time course and presentation of clinical symptoms are otherwise difficult to predict. Opportunities to improve outcomes for individuals with ALD are rapidly expanding due to the introduction of newborn screening programs for this condition and an evolving treatment landscape. The aim of this comprehensive review is to synthesize current knowledge regarding the neurocognitive and mental health effects of ALD. This review provides investigators and clinicians with context to improve case conceptualization, inform prognostic counseling, and optimize neuropsychological and mental health care for patients and their families. Results highlight key predictive factors and brain-behavior relationships associated with the diverse manifestations of ALD. The review also discusses considerations for endpoints within clinical trials and identifies gaps to address in future research.
(© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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