Scholarlink

Background <p>Protein tyrosine phosphatase, non-receptor type 4 (<i>PTPN4</i>) is a gene involved in glutamate downstream signaling contributing to cerebral maturation. Loss-of-function of this gene has been reported in patients showing various neurodevelopmental disorders, although the <i>PTPN4</i> gene is not clearly considered a disease-causing gene in the Online Mendelian Inheritance in Man catalogue.</p> Case presentation <p>Here, we report the case of a 7-year-old white boy with a homogeneous, heterozygous, 170&#xa0;kb chromosomal deletion encompassing several exons of the <i>PTPN4</i> gene. The mutation was transmitted by his father, who had an undiagnosed communication disorder. The patient was referred to a day care unit for complex neurodevelopmental disorders and a suspicion of autism spectrum disorder. He had a severe communication disorder associated with sensory integration issues, anxiety, and elimination disorder. During his 4&#xa0;years in the day care hospital, he received educational, creative, and academic group activities and specific re-education. Group activities help generalize the newly acquired developmental skills by providing social reinforcers and opportunities for positive peer interactions. In turn, achieving social activities positively influences the patient’s self-esteem, emotional insight, and motivation to make new progress.</p> Conclusion <p>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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月3日

查看全文
  • Corentin Tasu,
  • Alice Oppetit,
  • Chantal Galbert,
  • Séverine Ouaki,
  • Ingrid Zammouri,
  • Odile Gazzano,
  • Jorge Mourao,
  • Cyril Mignot,
  • David Cohen,
  • Xavier Benarous

摘要

Background

Protein tyrosine phosphatase, non-receptor type 4 (PTPN4) is a gene involved in glutamate downstream signaling contributing to cerebral maturation. Loss-of-function of this gene has been reported in patients showing various neurodevelopmental disorders, although the PTPN4 gene is not clearly considered a disease-causing gene in the Online Mendelian Inheritance in Man catalogue.

Case presentation

Here, we report the case of a 7-year-old white boy with a homogeneous, heterozygous, 170 kb chromosomal deletion encompassing several exons of the PTPN4 gene. The mutation was transmitted by his father, who had an undiagnosed communication disorder. The patient was referred to a day care unit for complex neurodevelopmental disorders and a suspicion of autism spectrum disorder. He had a severe communication disorder associated with sensory integration issues, anxiety, and elimination disorder. During his 4 years in the day care hospital, he received educational, creative, and academic group activities and specific re-education. Group activities help generalize the newly acquired developmental skills by providing social reinforcers and opportunities for positive peer interactions. In turn, achieving social activities positively influences the patient’s self-esteem, emotional insight, and motivation to make new progress.

Conclusion

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.