Version 1
: Received: 22 September 2023 / Approved: 22 September 2023 / Online: 22 September 2023 (11:45:54 CEST)
How to cite:
Callea, M.; Scalisi, F.C.; Grimaldi, P. Multisystemic Manifestation in Treacher Collins Syndrome. Preprints2023, 2023091567. https://doi.org/10.20944/preprints202309.1567.v1
Callea, M.; Scalisi, F.C.; Grimaldi, P. Multisystemic Manifestation in Treacher Collins Syndrome. Preprints 2023, 2023091567. https://doi.org/10.20944/preprints202309.1567.v1
Callea, M.; Scalisi, F.C.; Grimaldi, P. Multisystemic Manifestation in Treacher Collins Syndrome. Preprints2023, 2023091567. https://doi.org/10.20944/preprints202309.1567.v1
APA Style
Callea, M., Scalisi, F.C., & Grimaldi, P. (2023). Multisystemic Manifestation in Treacher Collins Syndrome. Preprints. https://doi.org/10.20944/preprints202309.1567.v1
Chicago/Turabian Style
Callea, M., Francisco Cammarata Scalisi and Piercesare Grimaldi. 2023 "Multisystemic Manifestation in Treacher Collins Syndrome" Preprints. https://doi.org/10.20944/preprints202309.1567.v1
Abstract
Treacher Collins syndrome (TCS) is a rare congenital disorder characterized by craniofacial abnormalities due to underdeveloped facial bones. In addition to physical deformities, TCS also presents with several neurological disorders resulting from facial defects and brain malformations. This paper reviews the neurological manifestations of TCS with a focus on facial nerve paralysis, neurodevelopmental delay, intellectual disability, and autism spectrum disorder. Facial nerve hypoplasia leads to an inability to control facial muscles and expressions. Neurodevelopmental delays in motor function and language acquisition are commonly reported in infants with TCS due to hearing loss, facial impairments, poor nutrition, infections, and structural brain changes. Intellectual disability with below average IQ is also more prevalent in TCS, affecting about one third of patients. Brain imaging reveals abnormalities like white matter hypoplasia, cortical atrophy, and reduced grey matter volume which likely contribute to cognitive deficits. Additionally, the rate of autism spectrum disorder is significantly higher in TCS compared to the general population. The reasons are unclear but may involve hearing loss, facial dysmorphisms, and socio-emotional processing centers in the brain. Management is multidisciplinary, focusing on early interventions like speech, physical, feeding, and behavioral therapy to maximize developmental and functional outcomes. Further research on the neurological pathophysiology of TCS is needed to better elucidate the mechanisms linking craniofacial defects with adverse neurodevelopmental consequences.
Public Health and Healthcare, Public Health and Health Services
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
