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ACTG: Assessment of Curricula in Teaching Genetics in Nursing

Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.

Books for neurocognitive, neuropsychiatric, neurological complications associated with phenylalanine hydroxylase (PAH) deficiency are reviewed to familiarize nurse practitioners with treatment and monitoring guidelines for persons living with the disorder.
PubMed (opens in a new tab)

GENE: Genetic Essentials in Undergraduate Nursing Education

Angelman Syndrome: Multidisciplinary Management.

The case presentation involves a nine-month-old who continues with developmental delays after working with an early intervention therapist and was later diagnosed with Angelman syndrome following several specialty referrals and genetic testing.
PubMed (opens in a new tab)

Providers’ Perspectives Related to Parents’ Choice of Pediatric Provider of Record and Newborn Screening: A Qualitative Study

Investment in future intervention programs is needed for reducing the number of infants without a designated pediatric provider of record and research is needed to understand social complexities and healthcare systems which affect parents’ choices of pediatric providers and newborn screening processes to optimize clinical outcomes for infants.
SAGE (opens in a new tab)

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

Comparing and contrast ACMG and European guidelines for PAH deficiency care found many similarities in their respective approaches but there were also a number of differences regarding the upper range for phenylalanine levels in adolescents and adults, the types of instruments used and frequency of neuropsychiatric examinations, and monitoring of bone health.
Springer Nature (opens in a new tab)

Online education for rare genetic diseases: a systematic review

A systematic literature review of what education for rare genetic disease is available online, describing its form, subject, and intended audience demonstrates the potential for online education as a vehicle for advancing the reach of rare disease education.
Springer Nature (opens in a new tab)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

The five known syndromes associated with the polyamine pathway share many similar clinical phenotypes, and yet patients with each syndrome present with distinctive syndromic features, serving as a valuable resource for clinicians diagnosing and caring for patients with these rare polyaminopathies.
PubMed (opens in a new tab)
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