Evidence map›Paper›PMID 36394118›Full record

ArticleAnnals of neurology2023

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.

Alexander L Cohen, Mallory R Kroeck, Juliana Wall, Peter McManus, Arina Ovchinnikova, Mustafa Sahin, Darcy A Krueger, E Martina Bebin, Hope Northrup, Joyce Y Wu and 4 more

Open access · greenAbstract read
In one paragraph

Article in Annals of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.6field-weighted citation impact, top 9% 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

6 citing papers in PubMed, 15 citations in OpenAlex.

  1. Tuberous sclerosis complex.Nature reviews. Disease primers · 2026
    Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 6 institutions in 1 country.

Alexander L CohenDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-6557-5866
Mallory R KroeckDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-7016-8664
Juliana WallDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-4152-0793
Peter McManusDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Arina OvchinnikovaDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Mustafa SahinDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-7044-2953
Darcy A KruegerDepartment of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID 0000-0002-7250-7391
E Martina BebinDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Hope NorthrupDepartment of Pediatrics, McGovern Medical School at University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, TX, USA.
Joyce Y WuDivision of Neurology & Epilepsy, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Simon K WarfieldComputational Radiology Laboratory, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-7659-3880
Jurriaan M PetersDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-6725-2814
Michael D FoxCenter for Brain Circuit Therapeutics, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-8848-6399
Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group
Brigham and Women's Hospital · USBoston Children's Hospital · USCincinnati Children's Hospital Medical Center · USMemorial Hermann · USNorthwestern University · USUniversity of Alabama at Birmingham · US

Funding

Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Joseph D. Buxbaum · 2014 to 2026
$20.1M
Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous SclerosisU01NS082320 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI KRUEGER, DARCY, SAHIN, MUSTAFA · 2012 to 2018
$13.3M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Using human brain connectivity to identify the causal neuroanatomical substrate of depression symptomsR01MH113929 · NIMH · BRIGHAM AND WOMEN'S HOSPITAL · PI MICHAEL D FOX · 2017 to 2026
$6.9M
Repetitive TMS-induced modulation of cortical excitability in ADR01MH115949 · NIMH · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SHAFI, MOUHSIN · 2018 to 2022
$3.2M
Treating hyperexcitability in Alzheimer’s disease with levetiracetam to improve brain function and cognitionR01AG060987 · NIA · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SHAFI, MOUHSIN · 2019 to 2023
$3.0M
Transdiagnostic memory, mood and motor circuits in Alzheimer's and neurodegenerative diseaseR56AG069086 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI FOX, MICHAEL D · 2021 to 2021
$873k
The neuroanatomical basis for face processing deficits in autism spectrum disorderK23MH120510 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI COHEN, ALEXANDER LI · 2020 to 2023
$779k
Targeted modulation of symptom-specific brain circuits with transcranial magnetic stimulationR21MH126271 · NIMH · BRIGHAM AND WOMEN'S HOSPITAL · PI FOX, MICHAEL D · 2021 to 2022
$492k
NIA NIH HHS R01 AG060987NIA NIH HHS R01AG060987NIA NIH HHS R56 AG069086NIA NIH HHS R56AG069086NICHD NIH HHS P50 HD105351NIMH NIH HHS K23 MH120510NIMH NIH HHS R01 MH113929NIMH NIH HHS R01MH113929NIMH NIH HHS R01 MH115949NIMH NIH HHS R01MH115949NIMH NIH HHS R21 MH126271NIMH NIH HHS R21MH126271NINDS NIH HHS U01 NS082320NINDS NIH HHS U01NS082320NINDS NIH HHS U54 NS092090NINDS NIH HHS U54NS092090
6 · The paper itself

Abstract

objectiveTuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptoms.

methodsWe delineated tuber locations for 115 TSC participants with ASD (n = 31) and without ASD (n = 84) from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network. We tested for associations between ASD diagnosis and tuber burden within the whole brain, specific lobes, and at 8 regions of interest derived from the ASD neuroimaging literature, including the anterior cingulate, orbitofrontal and posterior parietal cortices, inferior frontal and fusiform gyri, superior temporal sulcus, amygdala, and supplemental motor area. Next, we performed an unbiased data-driven voxelwise lesion symptom mapping (VLSM) analysis. Finally, we calculated the risk of ASD associated with positive findings from the above analyses.

resultsThere were no significant ASD-related differences in tuber burden across the whole brain, within specific lobes, or within a priori regions derived from the ASD literature. However, using VLSM analysis, we found that tubers involving the right fusiform face area (FFA) were associated with a 3.7-fold increased risk of developing ASD.

interpretationAlthough TSC is a rare cause of ASD, there is a strong association between tuber involvement of the right FFA and ASD diagnosis. This highlights a potentially causative mechanism for developing autism in TSC that may guide research into ASD symptoms more generally. ANN NEUROL 2023;93:577-590.

Indexed as

Autism Spectrum DisorderAutistic DisorderTuberous SclerosisBrainHumansMagnetic Resonance ImagingNeuroimaging

Identifiers

PMID36394118
PMCPMC9974824
OpenAlexW4309247425

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.