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How to Obtain Reliable Visual Event-related Potentials in Newborns

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Published on: October 24, 2019

Newborn screening in mucopolysaccharidoses.

Maria Alice Donati¹, Elisabetta Pasquini¹, Marco Spada²

¹Metabolic and Muscular Unit, Regional Reference Centre Expanded Newborn Screening, Meyer Children Hospital, Florence, Italy.

Italian Journal of Pediatrics

|November 17, 2018

Summary

Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise due to improved therapies. However, high rates of pseudodeficiency alleles, particularly in certain populations, complicate screening interpretation.

Keywords:

Lysosomal storage disorders Mucopolysaccharidoses Mucopolysaccharidosis type I Newborn screening

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Area of Science:

Biochemistry and Genetics
Newborn Screening
Metabolic Disorders

Background:

Therapeutic options and newborn screening (NBS) methods for mucopolysaccharidoses (MPS) are advancing.
Early intervention in MPS significantly improves patient outcomes.
Mucopolysaccharidosis type I (MPS I) is being considered for inclusion in NBS panels globally.

Purpose of the Study:

To evaluate the feasibility and challenges of implementing MPS I newborn screening.
To assess the impact of pseudodeficiency alleles on MPS I screening results.
To inform future NBS strategies for MPS disorders.

Main Methods:

Analysis of data from two pilot MPS I newborn screening studies in Italy (Tuscany-Umbria and North East Italy).
Inclusion of alpha-L-iduronidase (IDUA) gene molecular analysis for pseudodeficiency alleles.
Monitoring of infants with abnormal screening results and variants of unknown significance (VUS).

Main Results:

In the Tuscany-Umbria pilot, seven out of eight positive infants had pseudodeficiency alleles (p.Ala79Thr, p.His82Gln), with a high prevalence in individuals of African origin.
The North East Italy experience identified one affected newborn out of 66,491 screened, with a high incidence of pseudodeficiency (1:6044), also noted in patients of African origin.
One infant showed transient elevation of urine glycosaminoglycans (GAGs) and is under follow-up.

Conclusions:

The high prevalence of pseudodeficiency alleles, especially in specific ethnic groups, presents a significant challenge for accurate MPS I newborn screening.
Long-term follow-up is crucial for infants with abnormal NBS results or VUS to determine true risks and benefits.
The development of combined MPS screening assays and the availability of early treatments for other MPS types may facilitate future NBS pilot studies.