Evidence map›Paper›PMID 32343046›Full record

ArticleAnnals of clinical and translational neurology2020

Developmental regression and mitochondrial function in children with autism.

Kanwaljit Singh, Indrapal N Singh, Eileen Diggins, Susan L Connors, Mohammad A Karim, David Lee, Andrew W Zimmerman, Richard E Frye

Open access · goldAbstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 5% of its field
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

34 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.

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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 at 2 institutions in 1 country.

Kanwaljit SinghDepartment of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Indrapal N SinghDivision of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.
Eileen DigginsDepartment of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Susan L ConnorsDepartment of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Mohammad A KarimDivision of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.
David LeeDivision of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.
Andrew W ZimmermanDepartment of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Richard E FryeDivision of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.ORCID 0000-0003-4442-2937
Barrow Neurological Institute · USUniversity of Massachusetts Chan Medical School · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDevelopmental regression (DR) occurs in about one-third of children with Autism Spectrum Disorder (ASD) yet it is poorly understood. Current evidence suggests that mitochondrial function in not normal in many children with ASD. However, the relationship between mitochondrial function and DR has not been well-studied in ASD.

methodsThis cross-sectional study of 32 children, 2 to 8 years old with ASD, with (n = 11) and without (n = 12) DR, and non-ASD controls (n = 9) compared mitochondrial respiration and mtDNA damage and copy number between groups and their relation to standardized measures of ASD severity.

resultsIndividuals with ASD demonstrated lower ND1, ND4, and CYTB copy number (Ps < 0.01) as compared to controls. Children with ASD and DR had higher maximal oxygen consumption rate (Ps < 0.02), maximal respiratory capacity (P < 0.05), and reserve capacity (P = 0.01) than those with ASD without DR. Coupling Efficiency and Maximal Respiratory Capacity were associated with disruptive behaviors but these relationships were different for those with and without DR. Higher ND1 copy number was associated with better behavior.

conclusionsThis study suggests that individuals with ASD and DR may represent a unique metabolic endophenotype with distinct abnormalities in respiratory function that may put their mitochondria in a state of vulnerability. This may allow physiological stress to trigger mitochondrial decompensation as is seen clinically as DR. Since mitochondrial function was found to be related to ASD symptoms, the mitochondria could be a potential target for novel therapeutics. Additionally, identifying those with vulnerable mitochondrial before DR could result in prevention of ASD.

Indexed as

Problem BehaviorAutism Spectrum DisorderChildChild BehaviorChild, PreschoolCross-Sectional StudiesDNA Copy Number VariationsDNA, MitochondrialEndophenotypesFemaleHumansMaleMitochondriaNADH DehydrogenaseOxygen ConsumptionStress, PhysiologicalDNA, MitochondrialNADH DehydrogenaseNADH dehydrogenase subunit 1, human

Identifiers

PMID32343046
PMCPMC7261756
OpenAlexW3019325453

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.