Evidence map›Paper›PMID 27734906›Full record

ArticleScientific reports2016

Early neuroimaging markers of FOXP2 intragenic deletion.

Frédérique J Liégeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, Melanie Bahlo, Alan Connelly, Angela T Morgan

Abstract read
In one paragraph

Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 2 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

19 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Interventions for childhood apraxia of speech.The Cochrane database of systematic reviews · 2018
    Pooled it
  3. Article
  4. Childhood motor speech disorders: who to prioritise for genetic testing.European journal of human genetics : EJHG · 2026
    Article
  5. Interventions for childhood apraxia of speech.The Cochrane database of systematic reviews · 2026
    Article
  6. Review
  7. A Novel Candidate Neuromarker of Central Motor Dysfunction in Childhood Apraxia of Speech.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
  8. Speech and language classification in the human phenotype ontology.European journal of human genetics : EJHG · 2024
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. FOXP transcription factors in vertebrate brain development, function, and disorders.Wiley interdisciplinary reviews. Developmental biology · 2020
    Review
  18. Article
  19. 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

8 authors.

Frédérique J LiégeoisUCL Institute of Child Health, London, UK.
Michael S HildebrandUniversity of Melbourne, Australia.
Alexandra BonthroneUCL Institute of Child Health, London, UK.
Samantha J TurnerUniversity of Melbourne, Australia.
Ingrid E SchefferUniversity of Melbourne, Australia.
Melanie BahloUniversity of Melbourne, Australia.
Alan ConnellyUniversity of Melbourne, Australia.
Angela T MorganUniversity of Melbourne, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in the original family in which a FOXP2 mutation was found showed volume reduction and reduced activation in core language and speech networks, there have been no imaging studies of different FOXP2 mutations. We conducted a multimodal MRI study in an eight-year-old boy (A-II) with a de novo FOXP2 intragenic deletion. A-II showed marked bilateral volume reductions in the hippocampus, thalamus, globus pallidus, and caudate nucleus compared with 26 control males (effect sizes from -1 to -3). He showed no detectable functional MRI activity when repeating nonsense words. The hippocampus is implicated for the first time in FOXP2 diseases. We conclude that FOXP2 anomaly is either directly or indirectly associated with atypical development of widespread subcortical networks early in life.

Indexed as

ChildCodon, NonsenseForkhead Transcription FactorsHippocampusHumansLanguageLanguage DisordersMagnetic Resonance ImagingMaleMutationNeuroimagingSequence DeletionSpeechCodon, NonsenseForkhead Transcription FactorsFOXP2 protein, human

Identifiers

PMID27734906
PMCPMC5062117

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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.