Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.

Katharina Schwan,Janey Youngblom,Jessica Kianmahd,Joanna Fanos,Rebecca Waggoner,Kara Weisiger

doi:10.3390/ijns5040042

Abstract

X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene, resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated adrenal insufficiency and slowly progressive myelopathy to severe cerebral demyelination. Females who are heterozygous for ALD typically develop milder symptoms by late adulthood. Treatment for adrenal insufficiency associated with ALD exists in the form of cortisol, and cerebral ALD may be treated with stem cell transplantation. Currently, there is no treatment for myelopathy. Since 2013, at least 14 states have added ALD to their newborn screening (NBS) panel, including California in 2016. We examined the impact of a positive NBS result for ALD on families in California. Qualitative interviews were conducted with mothers of 10 children who were identified via NBS for ALD. Interviews were transcribed verbatim and analyzed using thematic analysis by two coders. Mothers felt strongly that ALD should be included on California’s NBS panel; however, many expressed concerns over their experience. Themes included stress at initial phone call, difficulty living with uncertainty, concerns regarding mental health support, and desire for more information on disease progression, treatments and clinical trials. Mothers exhibited diverse coping strategies, including relying on faith, information seeking, and maintaining hope. Mothers’ recommendations for healthcare providers included: educating providers making the initial phone call, providing patient-friendly resources, offering information about ongoing research, and streamlining care coordination. Advice for parents of children with ALD focused on staying hopeful and appreciating the time they have with their children. As more states add ALD to their NBS panel, it is important to improve the current model to promote family resiliency and autonomy.

Highlights

X-linked adrenoleukodystrophy (ALD) is a metabolic disorder caused by a pathogenic variant in the ABCD1 gene that results in a broad phenotype, including adrenal insufficiency and cerebral demyelination, leading to neurological deficits and progressive paralysis [1]
Five children were found to have a variant of uncertain significance (VUS); four were found to have a known pathogenic variant; and one had no variant identified but presented with elevated very long chain fatty acids (VLCFAs) only
This study contributes to the limited literature that exists about newborn screening (NBS) for ALD, and its findings may be used by health care providers (HCPs) and policymakers to tailor the support, counseling, and clinical needs of these unique patients and families

Summary

Introduction

X-linked adrenoleukodystrophy (ALD) is a metabolic disorder caused by a pathogenic variant in the ABCD1 gene that results in a broad phenotype, including adrenal insufficiency and cerebral demyelination, leading to neurological deficits and progressive paralysis [1]. It is estimated that all males and many females with ALD will develop progressive myelopathy. This may present as spastic gait, spastic paraparesis, and sensory ataxia [2]. The most severe form of-ALD is cerebral ALD (cALD), which affects approximately 38% of males with the ABCD1 gene variant [3]. It is estimated that more than 80% of females with the ABCD1 gene variant may develop symptoms of myelopathy or neuropathy by age 60. Females are usually not impacted by adrenal insufficiency or cALD [3]

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