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.

A 7-year-old boy with a genetic change (PTPN4 deletion) had severe communication problems, sensory issues, and anxiety. After 4 years of intensive therapy in a specialized day program with group activities and individual support, he made remarkable progress. He was able to attend regular school with help when he finished the program. This shows how intensive, comprehensive therapy in a supportive environment may help children with complex developmental challenges.

This case report describes a 7-year-old boy with a heterozygous PTPN4 gene deletion who presented with severe communication disorder, sensory integration issues, anxiety, and elimination disorder. Despite initial suspicion of autism spectrum disorder, this diagnosis was ruled out. The child received 4 years of intensive intervention in a day care hospital setting, including educational, creative, and academic group activities plus specific re-education. The intervention approach emphasized dimensional treatments and an enriched environment.

Remarkable progress was achieved, enabling the child to attend mainstream school with support at discharge. The case illustrates potential benefits of comprehensive, intensive intervention for children with PTPN4 mutations and complex neurodevelopmental presentations.

Suggests intensive, multi-modal intervention in enriched environments may benefit children with PTPN4 mutations and complex neurodevelopmental presentations. Emphasizes importance of comprehensive assessment to distinguish between autism spectrum disorder and other neurodevelopmental conditions. Supports consideration of day care hospital models for intensive intervention.

Single case report with no control group or comparison intervention. Unable to determine which specific intervention components were most effective. Genetic mutation is rare, limiting generalizability. Long-term outcomes beyond discharge not reported.

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. 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. 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.