Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Elizabeth I PierpontAshley R IsaiaErin McCoySarah J BrownAshish O GuptaJulie B EisengartPublished in: Journal of inherited metabolic disease (2022)
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.
Keyphrases
- mental health
- clinical trial
- end stage renal disease
- healthcare
- public health
- chronic kidney disease
- ejection fraction
- newly diagnosed
- bipolar disorder
- mental illness
- prognostic factors
- randomized controlled trial
- smoking cessation
- adipose tissue
- genome wide
- gene expression
- metabolic syndrome
- combination therapy
- insulin resistance
- weight loss
- brain injury
- current status
- depressive symptoms
- resting state
- open label
- hepatitis c virus
- hiv infected
- phase iii