Evidence map›Paper›PMID 40353386›Full record

ReviewPediatric endocrinology, diabetes, and metabolism2025

Autism spectrum disorder and inherited metabolic diseases: are there any common features?

Patryk Lipiński

Abstract readReview
In one paragraph

Review in Pediatric endocrinology, diabetes, and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

1 author.

Patryk LipińskiInstitute of Clinical Sciences, Maria-Sklodowska-Curie Medical Academy, Warsaw, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Given the increasing prevalence and knowledge of autism spectrum disorders (ASD) and inherited metabolic diseases (IMD), the aim of this manuscript was to provide practical implications of the molecular (metabolic) diagnostics of ASD and also give the rationale of selective screening of IMD in paediatric patients presenting with autistic features. A wide range of autistic features have been reported in patients with various IMD, including aminoacidopathies, organic acidurias, cerebral creatine deficiencies, and defects of purines and pyrimidines metabolism. A total of 9 cross-sectional studies reporting children diagnosed with ASD, who were subsequently screened for IMD, were identified. There is no cause-effect relationship be-tween autism spectrum disorders and inherited metabolic diseases; however, all neurometabolic diseases presenting with intellectual disability may meet the criteria for ASD diagnosis.

Indexed as

Autism Spectrum DisorderMetabolic DiseasesMetabolism, Inborn ErrorsChildCross-Sectional StudiesHumansautism spectrum disordersinherited metabolic diseasesselective screening

Identifiers

PMID40353386
PMCPMC12051103

What OpenQuestion holds

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Registered trials

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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.