Evidence map›Paper›PMID 39739235›Full record

ArticleJournal of applied genetics2025

Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.

Paulina Anikiej-Wiczenbach, Monika Limanówka, Maria Mazurkiewicz-Bełdzińska, Karolina Pierzynowska, Grzegorz Węgrzyn, Jolanta Wierzba, Katarzyna Milska-Musa, Arkadiusz Mański

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In one paragraph

Article in Journal of applied genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Paulina Anikiej-WiczenbachPsychological Counselling for Rare Genetic Diseases, Institute of Psychology, Faculty of Social Science, University of Gdansk, Bażynskiego, 4, 80-309, Gdańsk, Poland. paulina.anikiej@ug.edu.pl.ORCID http://orcid.org/0000-0002-7090-211X
Monika LimanówkaDepartment of Neurodevelopmental Neurology, Medical University of Gdansk, Dębinki, 7, 80-952, , Gdańsk, Poland.
Maria Mazurkiewicz-BełdzińskaDepartment of Neurodevelopmental Neurology, Medical University of Gdansk, Dębinki, 7, 80-952, , Gdańsk, Poland.
Karolina PierzynowskaDepartment of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308, Gdańsk, Poland.
Grzegorz WęgrzynDepartment of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308, Gdańsk, Poland.
Jolanta WierzbaDepartment of Internal and Paediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, Gdansk, Poland.
Katarzyna Milska-MusaDivision of Quality of Life Research, Department of Psychology, Faculty of Health Sciences With the Institute of Maritime and Tropical Medicine, Medical University of Gdańsk, Gdańsk, Poland.
Arkadiusz MańskiPsychological Counselling for Rare Genetic Diseases, Institute of Psychology, Faculty of Social Science, University of Gdansk, Bażynskiego, 4, 80-309, Gdańsk, Poland.

Funding

Narodowe Centrum Nauki 2022/45/N/HS6/00992
6 · The paper itself

Abstract

This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C > A), typically associated with severe neurodegeneration. However, her clinical presentation has been milder compared to the expected progression based on her genetic profile and residual enzyme levels. The child's current overall intellectual functioning was at the level of moderate intellectual disability; however, her developmental age has remained at the level of 5;3 for the last 3 years. The neuropsychological assessment showed some moderate difficulties in the patient's functioning, and brain magnetic resonance imaging showed no abnormalities. The results revealed that the child maintains the majority of her cognitive skills at a stable level, except for a marked decline in working memory. The study highlights the complexity and variability in the progression of MPS IIIC, emphasizing the need for early diagnosis, regular monitoring, and a multidisciplinary approach. This case highlights the need to consider individual variability in MPS IIIC progression, even when genetic and biochemical markers suggest a more severe course.

Indexed as

CognitionIntellectual DisabilityMucopolysaccharidosis IIIBrainChildDisease ProgressionFemaleHumansHydrolasesMagnetic Resonance ImagingNeuropsychological TestsHydrolasesN-sulfoglucosamine sulfohydrolaseHGSNAT geneLysosomal storage disordersNeurocognitive assessmentNeurodevelopmental disordersSanfilippo disease

Identifiers

PMID39739235

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.