Beyond genetics: A rare case of childhood disintegrative disorder following psychosocial trauma

Samin Davoody; Mohammad Miryounesi; Neda Mazaheri; Maryam Abbasinejad; Rozita Davari-Ashtiani

doi:10.1016/j.pedn.2026.02.039

Beyond genetics: A rare case of childhood disintegrative disorder following psychosocial trauma

J Pediatr Nurs. 2026 Mar 9:88:337-341. doi: 10.1016/j.pedn.2026.02.039. Online ahead of print.

Authors

Samin Davoody¹, Mohammad Miryounesi², Neda Mazaheri³, Maryam Abbasinejad⁴, Rozita Davari-Ashtiani⁵

Affiliations

¹ Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: samindavoody@sbmu.ac.ir.
² Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
³ Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
⁴ Behavioral Sciences Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁵ Behavioral Sciences Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: rodavari@sbmu.ac.ir.

PMID: 41806544
DOI: 10.1016/j.pedn.2026.02.039

Abstract

Background: Childhood Disintegrative Disorder (CDD), or Heller's syndrome, is a rare neurodevelopmental condition characterized by late regression of language, social, and motor abilities after a period of normal development. Its etiology remains unclear, but may involve genetic, immunologic, or environmental factors. While biological causes are emphasized in most studies, psychosocial influences have been rarely examined. This report presents a case of CDD following severe psychosocial trauma, accompanied by comprehensive genetic testing and structured sleep assessment.

Methods: A multidisciplinary evaluation including neurological, neuroimaging, and psychiatric assessments, physical examination, laboratory investigations, and whole-exome sequencing (WES) were performed. Developmental regression was assessed with the Autism Diagnostic Interview-Revised (ADI-R), and sleep disturbances with the Persian version of the Children's Sleep Habits Questionnaire (CSHQ).

Case presentation: A 9-year-old girl showed progressive regression in cognitive, linguistic, and motor skills at age 5 after witnessing her mother's death and her brother's self-immolation. Self-immolation is the most tragic and violent method of suicide, and is considered a severe traumatic event. Neurological examination, EEG, and MRI were unremarkable. WES and CNV analyses revealed no pathogenic variants, making genetic etiology unlikely. ADI-R confirmed severe regression in social and communication domains. The CSHQ score was 69 (>41), indicating significant sleep disturbances. Treatment with aripiprazole (12.5 mg/day) yielded minimal improvement during one year of follow-up. She was also referred for behavioral and developmental rehabilitation.

Conclusion: This case highlights severe psychosocial trauma acting as a critical trigger for the onset of CDD. It emphasizes the need for pediatric nurses to recognize trauma-related regression, integrate trauma-informed care, and coordinate family assessment and support.

Keywords: Childhood disintegrative disorder (CDD); Heller's syndrome; Neurodevelopment; Regression; Sleep; Traumatic event.