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Assessing procedures followed in response to the initiation of newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD)

  • Author(s): DuBois, Makenna Nicole
  • Advisor(s): Smith, Moyra
  • et al.
Abstract

X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with variable expressivity, incomplete penetrance, and lack of genotype-phenotype correlation. Newborn screening (NBS) for X-ALD was only recently initiated and the follow-up and counseling methods are not yet well-defined. In addition, X‐ALD is the first condition on the recommended uniform screening panel with X‐linked inheritance and a largely adult-onset spectrum of disease for females, which poses new challenges for clinicians and families that must be explored. This study assessed informal protocols and expert opinions through survey questions on scenarios of newborns with X-ALD ascertained by NBS. Results showed points of consensus, including that insurance discrimination should be discussed during counseling for both an adult woman with X-ALD and families of a newborn female with X-ALD. Providers also agreed that a detailed, 3-generation pedigree should be taken and counseling should be performed in-person for both male and female newborns with X-ALD. Responses differed regarding discussion of adult-onset manifestations of X-ALD for adult females in comparison to families of a newborn. There was also disagreement regarding recommendation for evaluation of male and female newborns by metabolic specialists and whether the diagnosis should be included in the electronic medical record. The results of this study have the potential to prompt a new conversation among professionals and serve as the foundation to improve guidelines, resources, and outcomes for these families.

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