Sex‐specific newborn screening for <scp>X‐linked</scp> adrenoleukodystrophy

Albersen, Monique; Beek, Samantha L. van der; Dijkstra, Inge M. E.; Alders, Mariëlle; Barendsen, Rinse W.; Bliek, Jet; Boelen, Anita; Ebberink, Merel S.; Ferdinandusse, Sacha; Goorden, Susan; Heijboer, Annemieke C.; Jansen, M.C.J.F.; Jaspers, Yorrick R. J.; Metgod, Ingrid; Salomons, Gajja S.; Vaz, Frédéric M.; Verschoof-Puite, Rendelien K; Visser, W. J.; Dekkers, Eugènie; Engelen, Marc; Kemp, Stephan

doi:10.1002/jimd.12571

Cited by 12 publications

(8 citation statements)

References 49 publications

(140 reference statements)

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“…With X-ALD added to newborn screening in many states of the U.S.A and in The Netherlands, 17 , 18 more patients with a life-long risk for CALD conversion will be identified. To detect the onset and progression of CALD, asymptomatic boys undergo an arduous MRI screening programme, often requiring anaesthesia and repeated gadolinium administration.…”

Section: Introductionmentioning

confidence: 99%

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

Weinhofer,

Rommer,

Gleiss

et al. 2023

eBioMedicine

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Section: Introductionmentioning

confidence: 99%

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

Weinhofer,

Rommer,

Gleiss

et al. 2023

eBioMedicine

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“…In recent years, several countries including the United States, Taiwan and The Netherlands have incorporated ALD into their national newborn screening programme (NBS) and pilot studies are currently underway in Italy and Japan (Albersen et al, 2023; Bonaventura et al, 2022; Chen et al, 2022; Moser et al, 2016; Shimozawa et al, 2021). Families affected by ALD are supportive of including ALD within the NBS programme that would enable those at risk of disease to be identified and then screened prospectively so they can receive timely treatment (Schaller et al, 2007; Schwan et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy

Piercy,

Nutting

2023

Child

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BackgroundAdrenoleukodystrophy (ALD) is a rare X‐linked neurodegenerative disease, affecting the brain, spinal cord and adrenal cortex. Childhood cerebral ALD (CCALD) is the most severe form of disease, involving rapidly progressive neurological deterioration. The treatment option for CCALD is allogenic haemopoietic stem cell transplant, which is only successful for early‐stage disease. Parents' experiences of CCALD can inform healthcare delivery.Study aimTo detail the experiences of parents of children diagnosed with cerebral ALD.MethodsA descriptive qualitative study. Parents were recruited via a UK‐based community support organisation. Data collection involved single semi‐structured interviews structured around a topic guide and conducted remotely. Data were analysed using the thematic analysis approach.FindingsTwelve parents from 11 families with a total of 16 children with ALD contributed to the study. Their 16 children with ALD followed one of three disease pathways, determined by the extent of neurological damage at diagnosis. Three themes, and their respective sub themes, describe the pathways and what they meant for parents. ‘No possibility of treatment’ concerns situations when CCALD was diagnosed at an advanced stage, the landslide of deterioration parents witnessed and their efforts to maintain normality. ‘Close to the treatment threshold’ describes situations where a small treatment window required parents to make agonising treatment decisions. ‘Watching and waiting’ explains the challenges for parents when disease was detected early enabling children to benefit from timely treatment.DiscussionParents' experiences were largely defined by the extent of cerebral damage at diagnosis, which determined the availability and success of treatment. There were specific challenges related to the three situations, indicating areas where support from health and care services may help parents deal with this devastating diagnosis.ConclusionThis study indicates support needs of parents across the spectrum of CCALD diagnoses and highlights the critical importance of early diagnosis.

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“…1 ). To enable timely therapeutic intervention, X-ALD newborn screening has now been implemented in the United States, Taiwan, and the Netherlands (Barendsen et al 2020 ; Albersen et al 2023 ).…”

Section: Mysterious Disorders: the Loss Of Peroxisomal Functionsmentioning

confidence: 99%

The peroxisome: an update on mysteries 3.0

Kumar,

Islinger,

Worthy

et al. 2024

Histochem Cell Biol

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Peroxisomes are highly dynamic, oxidative organelles with key metabolic functions in cellular lipid metabolism, such as the β-oxidation of fatty acids and the synthesis of myelin sheath lipids, as well as the regulation of cellular redox balance. Loss of peroxisomal functions causes severe metabolic disorders in humans. Furthermore, peroxisomes also fulfil protective roles in pathogen and viral defence and immunity, highlighting their wider significance in human health and disease. This has sparked increasing interest in peroxisome biology and their physiological functions. This review presents an update and a continuation of three previous review articles addressing the unsolved mysteries of this remarkable organelle. We continue to highlight recent discoveries, advancements, and trends in peroxisome research, and address novel findings on the metabolic functions of peroxisomes, their biogenesis, protein import, membrane dynamics and division, as well as on peroxisome–organelle membrane contact sites and organelle cooperation. Furthermore, recent insights into peroxisome organisation through super-resolution microscopy are discussed. Finally, we address new roles for peroxisomes in immune and defence mechanisms and in human disorders, and for peroxisomal functions in different cell/tissue types, in particular their contribution to organ-specific pathologies.

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Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Cited by 12 publications

References 49 publications

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy

The peroxisome: an update on mysteries 3.0

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