Evidence map›Paper›PMID 41080814›Full record

ReviewNeurology. Genetics2025

Neurodevelopmental and Neurologic Manifestations of

Andrew Dhawan, Darren Liu, Sarah Baitamouni, Kristin Anthony, Siddharth Srivastava, Antonio Y Hardan, Mirko Uljarevic, Katherine L Lachlan, Thomas W Frazier, Robyn M Busch and 2 more

Abstract readReview
In one paragraph

Review in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Recognizing genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in PTEN-related patients: a case report and literature comprehension.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  2. Reversible exacerbation of parkinsonism during epirubicin-cyclophosphamide chemotherapy in a patient with PTEN hamartoma tumor syndrome and young-onset Parkinson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
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

12 authors.

Andrew DhawanRose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, OH.ORCID https://orcid.org/0000-0002-5027-1277
Darren LiuGenomic Medicine Institute, Cleveland Clinic Research, Cleveland Clinic, OH.ORCID https://orcid.org/0000-0002-6703-1843
Sarah BaitamouniGenomic Medicine Institute, Cleveland Clinic Research, Cleveland Clinic, OH.ORCID https://orcid.org/0000-0003-4476-3272
Kristin AnthonyPTEN Foundation, Huntsville, AL.ORCID https://orcid.org/0000-0003-3268-346X
Siddharth SrivastavaRosamund Stone Zander Translational Neuroscience Centre, Department of Neurology, Boston Children's Hospital and Harvard Medical School, MA.ORCID https://orcid.org/0000-0001-7008-1879
Antonio Y HardanDepartment of Child Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA.ORCID https://orcid.org/0000-0002-9860-8625
Mirko UljarevicDepartment of Child Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA.ORCID https://orcid.org/0000-0002-8414-4209
Katherine L LachlanWessex Clinical Genetics Service, University Hospitals Southampton NHS Trust, Southampton, United Kingdom.ORCID https://orcid.org/0000-0002-3816-7346
Thomas W FrazierDepartment of Psychology, John Carroll University, University Heights, OH.ORCID https://orcid.org/0000-0002-6951-2667
Robyn M BuschGenomic Medicine Institute, Cleveland Clinic Research, Cleveland Clinic, OH.ORCID https://orcid.org/0000-0002-5442-4912
Charis EngGenomic Medicine Institute, Cleveland Clinic Research, Cleveland Clinic, OH.ORCID https://orcid.org/0000-0002-3693-5145
as the PTEN Hamartoma Tumor Syndrome Consensus Guidelines Working Group

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Methods: The PHTS Consensus Guidelines Working Group was established, comprising a core group of seven experts in the diagnosis and management of PHTS, including genetics, neurology, neuropsychology, and neurodevelopment (including psychiatry and psychology). The Working Group held joint meetings with a Patient Advisory Group (PTEN Foundation), comprising patients with PHTS and their advocates. Informed by a comprehensive literature review, the Working Group met regularly between 2022 and 2024 to produce guideline statements, refined through iterative feedback. A modified Delphi approach was used with an independent extended panel of neurologists, neuropsychologists, and psychiatrists, to establish final consensus guidelines. Results: The first iteration of the clinical consensus recommendations for the management of ND and neurologic features in patients with PHTS was formed. Guidelines encompass ND challenges, mood disorders, ND screening, neuroimaging abnormalities, neurologic comorbidities, and tumors affecting the CNS. Discussion: While multiple efforts are ongoing to better characterize the natural history of PHTS, the clinical management of individuals with PHTS is complex and remains challenging because of variable expressivity and age-related specificities. As part of a comprehensive effort to develop consensus management guidelines, which cover all manifestations of PHTS, we present the first iteration of guidelines for the ND and neurologic manifestations of PHTS, aimed at improving care for affected individuals and families.

Identifiers

PMID41080814
PMCPMC12509708

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.