Evidence map›Paper›PMID 33577628›Full record

ArticleCureus2021

Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome.

Fadila, Praveen Suman, Praveen Kumar, Faraz Omair

Abstract readCase Reports
In one paragraph

Article in Cureus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review of autism spectrum disorder databases for the identification of candidate genes.Database : the journal of biological databases and curation · 2025
    Review
  4. Article
  5. Article
  6. Review
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

4 authors.

FadilaInstitute of Child Health, Sir Ganga Ram Hospital, New Delhi, IND.
Praveen SumanChild Development Clinic, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, IND.
Praveen KumarDivision of Pediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, IND.
Faraz OmairDepartment of General Medicine, GreenLife Hospital, Patna, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder is an emerging public health issue. The core features of autism spectrum disorder are persistent impairment in reciprocal social communication and interaction and restricted, repetitive patterns of behavior or interests. We now know that it encompasses disorders previously referred to as early infantile autism, childhood autism, Kanner autism, high-functioning autism, atypical autism, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. While it is agreed that the etiology of autism spectrum disorder is largely unknown, certain environmental and genetic factors may be responsible for the disease. In particular, emerging evidence has suggested the role of C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene as a possible risk factor. We present the case of a two-year-old boy with high risk for autism who was found on advanced investigation to have heterozygous polymorphism for MTHFR. This prompted us to add folic acid to his therapeutic regime. He was treated with high-dose folic acid along with conventional intervention, and went on to make excellent recovery. We conclude that pharmacological intervention has the potential to improve outcome in a subgroup of autistic children.

Indexed as

autismautism spectrum disorderfolic acid supplementationmethylenetetrahydrofolate reductase

Identifiers

PMID33577628
PMCPMC7870120

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.