Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening

PEDIATRICS, Journal Year: 2025, Volume and Issue: unknown

Published: March 19, 2025

OBJECTIVE Although newborn screening (NBS) programs were expanded with the implementation of tandem mass spectrometry in late 1990s, impact on long-term clinical and cognitive outcomes adolescents young adults inherited metabolic diseases (IMDs) has remained fairly unknown for most IMDs. METHODS A prospective, multicenter, observational study is performed Southwest Germany (NGS2025, DRKS-ID: DRKS00013329). For systematic follow-up from preschool up to adulthood, individuals IMDs identified by NBS between 1999 2014 included. RESULTS In total, 257 (124 boys, 133 girls) screened at least 1 visit adolescence followed until median age 13.7 years. During observation period, did not develop permanent disease-specific signs (70.1%) or decompensations (55.2% those risk), had normal outcome (81.4%; IQ mean [SD], 98 [15]), attended regular primary (91.2%) secondary schools (90.8%). Nonetheless, early start treatment prevent 69 (44.8%) risk, 33 them, decompensation occurred already before result was available. Permanent symptoms more frequently observed patients experiencing compared without (75% vs 12.8%). Reliable therapy adherence associated better outcome. CONCLUSION a highly successful program prevention early-diagnosed early-treated an IMD, allowing independent life; however, therapeutic effectiveness quality remain relevant limitation some diseases.

Language: Английский

---

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Journal Year: 2024, Volume and Issue: 47(5), P. 945 - 970

Published: May 16, 2024

Abstract Genomic newborn screening (gNBS) is on the horizon given decreasing costs of sequencing and advanced understanding impact genetic variants health diseases. Key to ongoing gNBS pilot studies selection target diseases associated genes be included. In this study, we present a comprehensive analysis seven published gene–disease lists from studies, evaluating count, composition, group proportions, ClinGen curations individual disorders. Despite shared criteria, observe substantial variation in total gene count (median 480, range 237–889) disease composition. An intersection was identified for 53 genes, primarily inherited metabolic (83%, 44/53). Each study investigated subset exclusive pairs, number pairs positively correlated with included per study. While most receive “Definitive” or “Strong” classifications, some are labeled as “Refuted” ( n = 5) “Disputed” 28), particularly cardiac Importantly, 17%–48% lack curation. This underscores current absence consensus recommendations criteria resulting diversity proposed their coupling variations use Our findings provide crucial insights into accompanying future program, emphasizing necessity collaboration discussion about harmonization panel ensure screening's objectivity, integrity, broad acceptance.

Language: Английский

---

Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion

European Journal of Paediatric Neurology, Journal Year: 2025, Volume and Issue: 56, P. 84 - 96

Published: April 24, 2025

Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic enabling early identification affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow will probably be extended further the future. However, implementing disease subject various preconditions maximize benefit children, while avoiding harm screened healthy cohort, their families society. Ideally, data on clinical long-term treatment collected prior implementation through observational studies registries. In addition, should implemented an iteratively evaluated public health collection accompanied intra-operable studies, ideally international cooperations. this review, current expertise NBS, strategies possible benefits are presented discussed several including propionic acidemia isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B12) deficiency, urea cycle disorders, tetrahydrobiopterin (BH4) primary neurotransmitter well lysosomal storage disorders. Given these prerequisites, diseases here might part future programs worldwide.

Language: Английский

---

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai

Clinica Chimica Acta, Journal Year: 2024, Volume and Issue: 558, P. 117893 - 117893

Published: April 5, 2024

Compare the differences between normal newborns and high-risk children with inherited metabolic diseases. The disease profile includes amino acidemias, fatty acid oxidation disorders, organic acidemias.

Language: Английский

---