Evidence map›Paper›PMID 40612488›Full record

ArticleFrontiers in pediatrics2025

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in

V Napoli, S Guerrera, F Demaria, G Piccolo, A Cianfa, S Passarini, M G Logrieco, G Zanni, G Valeri, S Vicari

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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

1 citing paper in PubMed.

  1. 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

10 authors.

V Napoli *Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
S Guerrera *Child and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
F DemariaChild and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
G PiccoloLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
A CianfaChild and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
S PassariniChild and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
M G LogriecoDepartment of Humanites, University of Foggia, Foggia, Italy.
G ZanniRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
G ValeriChild and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
S VicariChild and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Rett Syndrome (RTT) is an X-linked progressive disease affecting 1 in 10,000 females. Material and methods: We report a 13.9-year-old girl, with a complex neurodevelopmental disorder including ASD, ID with the appearance, at 9 years of age, of vocal and motor tics involving the upper limbs and trunk, suggesting a diagnosis of Tourette's syndrome (TS). Tics were also present in the mother and grandmother. The patient was followed-up for approximately 10 years and underwent periodic clinical and neuropsychological evaluations. We performed Trio-based WES analysis and segregation analysis in relevant family members. Results: A Conclusion: We describe the developmental trajectory of an adolescent with overlapping features of Rett and Tourette syndromes, carrying

Indexed as

GABABintellectual disabilitymethyl cpG binding protein 2preserved speech variant (PSV)Rett syndrometics and Tourette syndromeZappella Rett syndrome clinical variant (Z-RTT)

Identifiers

PMID40612488
PMCPMC12222089

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.