The impacts of adrenoleukodystrophy newborn screening on the evaluation of adrenal dysfunction in male children: An integrative literature review

• Published in: Journal of pediatric nursing 2023-09, Vol.72, p.e53-e70
• Main Authors: Pitts, Leslie, White, J. Michelle, Ladores, Sigrid, Wilson, Christina M.
• Format: Article
• Language: English
• Subjects: Adrenoleukodystrophy; And adrenal insufficiency; Newborn screening
• ISSN: 0882-5963; 1532-8449
• DOI: 10.1016/j.pedn.2023.06.005

Adrenoleukodystrophy (ALD) is an x-linked genetic condition with a high risk of adrenal dysfunction recommended for newborn screening. This review aims to critically appraise and synthesize existing literature identifying the impacts of ALD newborn screening in the United States on the evaluation and treatment of adrenal dysfunction in male children. An integrative literature review was conducted using the Embase, PubMed, and CINAHL databases. English-language primary source studies published in the past decade and seminal studies were included. Twenty primary sources met the inclusion criteria, including five seminal studies. Three major themes emerged from the review: 1) prevention of adrenal crisis, 2) unexpected outcomes, and 3) ethical impacts. ALD screening increases disease identification. Serial adrenal evaluation prevents adrenal crisis and death; data is needed to establish predictive outcomes in ALD prognosis. Disease incidence and prognosis will become more apparent as states increasingly add ALD screening to their newborn panel. Clinicians need awareness of ALD newborn screening and state screening protocols. Families first learning of ALD through newborn screening results will require education, support, and timely referrals for appropriate care. •Positive adrenoleukodystrophy (ALD) screening requires serial clinical surveillance.•Adrenal dysfunction typically precedes neurological symptoms in ALD.•Clinicians must educate and support individuals affected by ALD screening.•Infants are frequently diagnosed with ALD without a known family history.•Despite improved diagnostic ability, the prognosis of ALD remains unpredictable.