Evidence map›Paper›PMID 33892622›Full record

ReviewJournal of neurodevelopmental disorders2021

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Reymundo Lozano, Catherine Gbekie, Paige M Siper, Shubhika Srivastava, Jeffrey M Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D Buxbaum and 1 more

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Journal of neurodevelopmental disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06211673 (Psychiatric Phenotype Characterization of Individuals With FOXP1 Syndrome), which is not on this map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 1 pooled it
3.9field-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.

NCT06211673 completednot on this mapstarted 2024, after this paper: background citation

Psychiatric Phenotype Characterization of Individuals With FOXP1 Syndrome

TypeobservationalSponsorAssistance Publique - Hôpitaux de ParisRan2024 to 2025Enrolled25ConditionsFOXP1 SyndromeArmsSemi-structured interviews, Heteroquestionnaires
3 · Its place in the literature

Who cites it

35 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
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  6. Article
  7. Article
  8. Article
  9. Gait abnormalities in children with FOXP1 syndrome: A case series.Journal of pediatric rehabilitation medicine · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
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  17. Case Report of Suspected Gonadal Mosaicism inInternational journal of molecular sciences · 2024
    Article
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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

11 authors at 2 institutions in 1 country.

Reymundo LozanoDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Reymundo.lozano@mssm.edu.ORCID 0000-0002-5616-5854
Catherine GbekieDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Paige M SiperSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Shubhika SrivastavaDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jeffrey M SalandDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Swathi SethuramDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lara TangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Elodie DrapeauDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Yitzchak FrankSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Joseph D BuxbaumDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alexander KolevzonSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn School of Medicine at Mount Sinai · USAllen Institute for Brain Science · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome.

Indexed as

Autism Spectrum DisorderIntellectual DisabilityForkhead Transcription FactorsHumansIn Situ Hybridization, FluorescenceRepressor ProteinsForkhead Transcription FactorsFOXP1 protein, humanRepressor ProteinsASDAutism spectrum disorderForkhead box protein 1FOXP1FOXP1 syndrome

Identifiers

PMID33892622
PMCPMC8066957
OpenAlexW3154997353

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.