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Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

Overview

Authors: Fiona Journal1,2,3, Nada Kojovic1,2,3, Kenza Latrèche1,3, Stefania Solazzo1,3, Marie Schaer1,3
ORCID iDs: Fiona Journal, Nada Kojovic, Kenza Latrèche, Marie Schaer
  1. Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland
  2. Faculty of Psychology and Science of Education (FAPSE), University of Geneva, Geneva, Switzerland
  3. Fondation Pôle Autisme, Geneva, Switzerland
Institutions: University of Geneva (Switzerland); Fondation Pôle Autisme (Switzerland)
Journal: Clinical genetics, volume 110, issue 3, pages 347-357
Dates: received 24 March 2026; accepted 12 June 2026; published online 2 July 2026; in print September 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1111/cge.70204 · PMID 42392841 · PMCID PMC13432291 · OpenAlex W7167072261
Open access: hybrid, a free copy (OpenAlex)
Status: dead link
Categories: structural MRI / diffusion (modality), human (organism), other condition (population), autism (population), ADHD (population), developmental (subfield)
Methods: Statistics, Physiology & signal measures
Keywords: ADHD, ASD, developmental trajectories, eye‐tracking, MRI, PACS1 neurodevelopmental disorder, Schuurs–Hoeijmakers syndrome
MeSH: Brain*, Neurodevelopmental Disorders*, Vesicular Transport Proteins*, Autistic Disorder, Child, Child, Preschool, Female, Humans, Infant, Longitudinal Studies, Magnetic Resonance Imaging, Male, Mutation, Phenotype (* major topic)
Topic: Genomics and Rare Diseases (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: Swiss National Science Foundation (212653, 163859, 202235, 190084); Fondation Pôle Autisme; National Centre of Competence in Research (NCCR) Synapsy (51NF40-185897); NCCR Catalysis (51NF40‐185897); Fondation privée des Hôpitaux Universitaires de Genève
Citations: not cited yet (Europe PMC); 55 references in the paper

Abstract

PACS1 neurodevelopmental disorder (PACS1‐NDD), also known as Schuurs–Hoeijmakers syndrome, is a rare genetic condition caused by a recurrent de novo mutation in the PACS1 gene. Autistic traits have been reported in PACS1‐NDD, but systematic longitudinal assessments are lacking. We followed five children (3 females) with genetically confirmed PACS1‐NDD, aged 1.4–6.2 years at entry, over 2–3.5 years (29 assessments). Measures included standardized behavioral and cognitive assessments, eye‐tracking, and structural MRI. Data were compared to 357 autistic and 123 typically developing children from a longitudinal cohort. Children with PACS1‐NDD showed global developmental delays with heterogeneous trajectories. Adaptive and communication profiles overlapped with autistic children, while motor impairments were more pronounced. Vocabulary and grammar were delayed, but pragmatic skills were relatively preserved. All children with PACS1‐NDD exhibited autistic traits with elevated restricted and repetitive behaviors and milder social‐communication difficulties. ADHD symptoms were subthreshold and predominantly inattentive. Eye‐tracking revealed preserved social interest but reduced gaze typicality in naturalistic contexts. MRI showed globally reduced gray and white matter volumes. These findings provide the first longitudinal, multimodal characterization of PACS1‐NDD, informing clinical care and targeted outcome measures for therapeutic trials, and highlighting the need for larger studies to validate and extend these findings.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

No file of the authors' code could be read here: it is described below, and read at its source.

danizoeller/myMixed-ModelsTrajectories

License: none: the authors keep all their rights
State: the link is dead, verified on 27 September 2026
Evidence: found in the paper
Software Heritage: not archived
Found in: the text, “Developmental Trajectories”
Not found: README, license file, CITATION.cff, environment file, tests, continuous integration, documentation
Availability: 1 check, the latest on 27 September 2026: the link is dead
  • 27 September 2026: the link is dead
At the source: github.com/danizoeller/myMixed-ModelsTrajectories

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Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.

Data

No dataset and no data link were found in the paper.

Data Availability Statement

The raw data supporting the conclusions of this article will be made available by the authors on a reasonable request.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 2, 28 September 2026

  • Publisher: — → Wiley

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 5 authors, 7 keywords, 14 MeSH terms, 5 funders, 47 references.

Cite

This paper

Journal, F., Kojovic, N., Latrèche, K., Solazzo, S., & Schaer, M. (2026). Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain. Clinical genetics, 110(3), 347-357. https://doi.org/10.1111/cge.70204

BibTeX

@article{journal2026phenotypic,
author = {Journal, Fiona and Kojovic, Nada and Latrèche, Kenza and Solazzo, Stefania and Schaer, Marie},
title = {{Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain}},
journal = {Clinical genetics},
year = {2026},
month = jul,
volume = {110},
number = {3},
pages = {347--357},
publisher = {Wiley},
issn = {0009-9163},
doi = {10.1111/cge.70204},
url = {https://doi.org/10.1111/cge.70204},
pmid = {42392841},
pmcid = {PMC13432291}
}

RIS

TY - JOUR
AU - Journal, Fiona
AU - Kojovic, Nada
AU - Latrèche, Kenza
AU - Solazzo, Stefania
AU - Schaer, Marie
TI - Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain
T2 - Clinical genetics
J2 - Clin Genet
PY - 2026
DA - 2026/07/02
VL - 110
IS - 3
SP - 347
EP - 357
SN - 0009-9163
PB - Wiley
DO - 10.1111/cge.70204
UR - https://doi.org/10.1111/cge.70204
LA - en
ER -

CSL-JSON

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