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Pitt–Hopkins Syndrome: A Comprehensive Review for Healthcare and Nursing Practice

Gayathri R.

Abstract


Pitt–Hopkins syndrome (PTHS) is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability, distinctive facial dysmorphism, abnormal breathing patterns, epilepsy, and gastrointestinal dysfunction. The condition is caused by pathogenic variants in the TCF4 gene located on chromosome 18q21.2. Due to its rarity and phenotypic overlap with other neurodevelopmental disorders, Pitt–Hopkins syndrome is frequently underdiagnosed. Early identification and multidisciplinary intervention are essential to optimize developmental outcomes and improve quality of life. This article presents a plagiarism-safe, language-polished review of Pitt–Hopkins syndrome, focusing on etiology, clinical manifestations, diagnosis, management, and nursing implications relevant to healthcare professionals.


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References


Pitt, D., & Hopkins, I. (1978). A syndrome of mental retardation, wide mouth, and intermittent overbreathing. Australian Paediatric Journal, 14(3), 182–184. https://doi.org/10.1111/j.1440-1754.1978.tb02071.x

Amiel, J., Rio, M., de Pontual, L., Redon, R., Malan, V., Boddaert, N., et al. (2007). Mutations in TCF4, encoding a class I basic helix–loop–helix transcription factor, are responsible for Pitt–Hopkins syndrome. American Journal of Human Genetics, 80(5), 988–993. https://doi.org/10.1086/515583

Whalen, S., Héron, D., Gaillon, T., Moldovan, O., Rossi, M., Devillard, F., et al. (2012). Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the phenotype. American Journal of Medical Genetics Part A, 158A(12), 3069–3078. https://doi.org/10.1002/ajmg.a.35637

Zollino, M., Zweier, C., Van Balkom, I. D. C., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., et al. (2019). Diagnosis and management in Pitt–Hopkins syndrome: First international consensus statement. Clinical Genetics, 95(4), 462–478. https://doi.org/10.1111/cge.13424

Whalen, S., & Héron, D. (2023). Pitt–Hopkins syndrome. In M. P. Adam, J. A. Mirzaa, R. A. Pagon, et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/


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