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.
Authors
- Odile Gazzano
- Corentin Tasu (ORCID: https://orcid.org/0000-0002-1962-8573)
- Alice Oppetit
- Cyril Mignot
- Jorge Mourao
- Xavier Benarous
- Séverine Ouaki
- Chantal Galbert
- Ingrid Zammouri
- David J. Cohen
Institutions
- 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)
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