Evidence map›Paper›PMID 40375465›Full record

ArticleJournal of intellectual disability research : JIDR2025

A Further Characterisation of the Neuropsychological Profile, Social Perception, and Academic Skills in Sotos Syndrome.

Niccolò Butti, Cosimo Urgesi, Alice Decio, Lidia Pezzani, Donatella Milani, Rosario Montirosso

Abstract read
In one paragraph

Article in Journal of intellectual disability research : JIDR, 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. 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

6 authors.

Niccolò ButtiScientific Institute, IRCCS E. Medea, 0-3 Centre for the at-risk infant, Bosisio Parini, Lecco, Italy.ORCID 0000-0002-5511-4342
Cosimo UrgesiScientific Institute, IRCCS E. Medea, Pasian di Prato, Udine, Italy.
Alice DecioScientific Institute IRCCS E. Medea, Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System Unit, Bosisio Parini, Lecco, Italy.
Lidia PezzaniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Donatella MilaniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Rosario MontirossoScientific Institute, IRCCS E. Medea, 0-3 Centre for the at-risk infant, Bosisio Parini, Lecco, Italy.

Funding

Associazione Sindrome di Sotos Italia (ASSI) GulliverBibliosanItalian Ministry of Health
6 · The paper itself

Abstract

backgroundSotos syndrome (SoS) is a rare genetic disorder characterised by physical overgrowth and by frequent intellectual disability and comorbidity with neurodevelopmental disorders. A recent study documented a specific cognitive profile of SoS. However, further research is needed to replicate and expand these findings to other neuropsychological domains, including social perception. Moreover, numeracy has long been considered as a weakness in SoS, but inconsistent evidence asks for a further assessment of academic skills.

methodThis single-cohort, cross-sectional study enrolled 28 participants with SoS aged 5-18 years, who underwent a comprehensive neuropsychological assessment. Moreover, a school-age subgroup was administered with standardised tests assessing academic skills.

resultsThe neuropsychological profile was characterised by lowest scores in both language and visuospatial abilities and highest scores in memory for faces. Greatest difficulties were observed in rapid verbal production, visuospatial memory and graphomotor control. Neither attention and executive functions nor social perception skills were relative weaknesses or strengths of the profile. An exploratory analysis revealed that the comorbidity with autism spectrum disorder and/or attention-deficit/hyperactivity disorder did not result in a different neuropsychological profile. A large part of the sample had poor mathematics skills, and only one participant did not display any difficulties in mathematics.

conclusionsThis study extends the previous characterisation of the SoS cognitive profile and documents a prevalent difficulty in mathematics skills. Notably, social perception does not emerge as selectively impaired in SoS. The results have important implications for tailoring rehabilitative interventions, school adjustment and daily living of children and adolescents with SoS.

Indexed as

Academic PerformanceCognitive DysfunctionSocial PerceptionSotos SyndromeAdolescentChildChild, PreschoolComorbidityCross-Sectional StudiesExecutive FunctionFemaleHumansMaleNeuropsychological Testsacademic skillsmathematicsneurodevelopmental disordersneuropsychological profilesocial perceptionSotos syndrome

Identifiers

PMID40375465
PMCPMC12245551

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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.