Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report

Despite a severe communication disorder associated with sensory integration issues, anxiety, and elimination disorder, a diagnosis of autism spectrum disorder was ruled out, and remarkable progress was observed, which allowed our patient to attend same-age mainstream schools with personalized support at discharge. This case illustrates the effect of dimensional interventions to limit developmental impairments in a context of PTPN4 mutation and the benefit of providing an enriched environment in combination with individual re-education to improve developmental outcomes.

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Publication Details

Journal
Journal of Medical Case Reports
Published
2026-03-03
DOI
https://doi.org/10.1186/s13256-026-05892-5
Primary Topic
Protein Tyrosine Phosphatases
Type
article
Field-Weighted Citation Impact
0.00
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article

Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report

Odile Gazzano, Corentin Tasu, Alice Oppetit, Cyril Mignot et al.
Journal of Medical Case Reports
Protein Tyrosine Phosphatases
article

Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report

Odile Gazzano, Corentin Tasu, Alice Oppetit, Cyril Mignot, Jorge Mourao, Xavier Benarous, Séverine Ouaki, Chantal Galbert, Ingrid Zammouri, David J. Cohen
article en

Abstract

Despite a severe communication disorder associated with sensory integration issues, anxiety, and elimination disorder, a diagnosis of autism spectrum disorder was ruled out, and remarkable progress was observed, which allowed our patient to attend same-age mainstream schools with personalized support at discharge. This case illustrates the effect of dimensional interventions to limit developmental impairments in a context of PTPN4 mutation and the benefit of providing an enriched environment in combination with individual re-education to improve developmental outcomes.

Journal of Medical Case Reports
Centre National de la Recherche Scientifique (FR), Inserm (FR), Sorbonne Université (FR), Hôpital Armand-Trousseau (FR), Assistance Publique – Hôpitaux de Paris (FR), Pitié-Salpêtrière Hospital (FR), Institut Pierre Louis d‘Épidémiologie et de Santé Publique (FR), Institut Systèmes Intelligents et de Robotique (FR)
Quality Education
Openalex Percentile: Top 35%
Protein Tyrosine Phosphatases
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Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report — Odile Gazzano, Corentin Tasu, et al. · Journal of Medical Case Reports (2026) | TGRS Research Map | TGRS