Evidence map›Paper›PMID 41039063›Full record

ArticleJournal of molecular neuroscience : MN2025

Genetic Abnormalities in Neurodevelopmental Disorders with Multidimensional Impairment.

Cyril Hanin, Paloma Torres, Isabelle Millet, Joana Matos, Cora Cravero, Marianna Giannitelli, Anne-Sophie Pellen, Hugues Pellerin, Charline Grossard, Ingrid Zammouri and 3 more

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Article in Journal of molecular neuroscience : MN, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Cyril HaninDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Paloma TorresDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Isabelle MilletDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Joana MatosDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Cora CraveroDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Marianna GiannitelliDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Anne-Sophie PellenDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Hugues PellerinDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Charline GrossardDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Ingrid ZammouriDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Astrid De FoucaudDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
Claudine Laurent-LevinsonDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France.
David CohenDepartment of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris,, Sorbonne University, Paris, France. david.cohen@aphp.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesMany children with neurodevelopmental disorders (NDD) show complex, multidimensional impairments meeting criteria for multiple NDD, yet remain "diagnostically homeless" as DSM-5 lacks a Multidimensional Impairment (MDI) category. We investigated the prevalence of genetic abnormalities in such complex NDD cases.

methodsBetween 2017 and 2019, we diagnosed MDI in 666 patients. Among them, 122 (18%) underwent genetic assessment (DNA microarrays, karyotype, gene panels, FISH, FMR1 testing, exome/genome sequencing). We used univariate analyses and clustering to explore associations between clinical dimensions and genetic findings.

resultsGenetic abnormalities were identified in 78 patients. Of these: (1) 41 had known abnormalities usually linked to complex NDD (e.g., del22q11.2); (2) 16 had mutations associated with severe ASD/ID (e.g., GRIA3 on Xq25); (3) 11 showed novel abnormalities not previously linked to NDD (e.g., duplication Xq21.1 including POU3F4); (4) 10 had variants of uncertain significance. Depending on classification, prevalence ranged from 47% (57/122, definite or predisposition) to 64% (78/122, including uncertain/possible pathogenic variants). Neither clinical dimensions nor severity clusters were associated with the presence of genetic abnormalities.

conclusionDespite a referral bias toward severe cases, the high rate of genetic findings in this cohort underscores the need for more systematic genetic testing in complex NDD with multidimensional impairment.

Indexed as

Neurodevelopmental DisordersAdolescentChildChild, PreschoolFemaleHumansMaleMutationCopy number variationsGenome sequencingNeurodevelopmental disordersPhenotypePsychometrics

Identifiers

PMID41039063

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