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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 - PubMed

4 hours ago
  • #PTPN4 gene
  • #Neurodevelopmental disorders
  • #Enriched environment
  • A 7-year-old boy with a PTPN4 gene mutation showed major clinical improvement through intensive re-education and an enriched environment in a day care hospital.
  • The PTPN4 gene is involved in glutamate downstream signaling and cerebral maturation, with loss-of-function linked to neurodevelopmental disorders.
  • The patient had a severe communication disorder, sensory integration issues, anxiety, and elimination disorder but was not diagnosed with autism spectrum disorder.
  • Over 4 years, the boy participated in educational, creative, and academic group activities, which helped generalize new developmental skills and improve social interactions.
  • Remarkable progress allowed the patient to attend mainstream school with personalized support, highlighting the benefits of dimensional interventions and enriched environments.