Evidence map›Paper›PMID 39526825›Full record

ArticleDevelopmental medicine and child neurology2025

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Eva Loth, Constance Smith-Hicks, Mustafa Sahin, Antonio Y Hardan, Mirko Uljarevic, NET Development Project Team

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Article in Developmental medicine and child neurology, 2025. 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
–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

6 citing papers in PubMed.

  1. Research Review: Emotion regulation in individuals with intellectual disability - an integrative review.Journal of child psychology and psychiatry, and allied disciplines · 2026
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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

10 authors.

Thomas W FrazierDepartment of Psychology, John Carroll University, University Heights, OH, USA.ORCID 0000-0002-6951-2667
Robyn M BuschDepartment of Neurology, Neurological Institute, Clinic Cleveland, Cleveland, OH, USA.
Patricia KlaasDepartment of Neurology, Neurological Institute, Clinic Cleveland, Cleveland, OH, USA.
Katherine LachlanHuman Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Eva LothDepartment of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience Kings College London, London, UK.
Constance Smith-HicksDepartment of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Mustafa SahinRosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Antonio Y HardanDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Mirko UljarevicDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
NET Development Project Team

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
ADNP Kids FoundationAutism Speaks 12776Malan Syndrome FoundationNICHD NIH HHS P50 HD105351PTEN Research JCU-20-001PTEN Research UOM-20-001Simons Foundation 971361SYNGAP Research Fund
6 · The paper itself

Abstract

aimTo examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1-related disorder), a mixed group of other neurodevelopmental genetic syndromes (NDGS), idiopathic neurodevelopmental disorder, and neurotypical control participants.

methodUsing a longitudinal case-control design, caregivers reported neurobehavioral information for 498 participants (PTEN hamartoma tumor syndrome n = 112, Malan syndrome n = 24, SYNGAP1-related disorder n = 47, other NDGS n = 72, idiopathic neurodevelopmental disorder n = 54, neurotypical siblings n = 74, and unrelated neurotypical control participants n = 115) at three timepoints (baseline, and 1-month and 4-month follow-ups) using the online-administered Neurobehavioral Evaluation Tool (NET).

resultsNET scales had good scale and test-retest reliability. Unique patterns of neurobehavioral findings emerged, with SYNGAP1-related disorder and Malan syndrome showing generally more severe symptom and skill patterns than for other groups of patients. Patterns could be partly accounted for by estimated cognitive level, speech level, and the presence of autism spectrum disorder. However, even when accounting for these factors, group differences remained. Reliable change indices are reported.

interpretationGenetic syndromes associated with neurodevelopmental disorders present with unique neurobehavioral profiles that can inform selection of outcome measures in future clinical trials. The NET may be a useful screening and monitoring instrument in clinical practice, where frequent in-person clinic attendance is difficult for many patients.

Indexed as

Neurodevelopmental DisordersAdolescentCase-Control StudiesChildChild, PreschoolFemaleHumansLongitudinal StudiesMaleNeuropsychological Testsras GTPase-Activating ProteinsReproducibility of Resultsras GTPase-Activating ProteinsSYNGAP1 protein, human

Identifiers

PMID39526825
PMCPMC11965975

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