Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

Abstract

Introduction Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race. The infant carrier may present neurological development. This rare syndrome requires documentation of its main clinical and kinetic-functional consequences.Objectives The purpose of this study was to describe the clinical and kinetic-functional findings for a child who has Treacher Collins syndrome and receives treatment in the Physiotherapy Department at the Pestalozzi Association in Goiania, and to present the evolution of motor function and psychomotor development during rehabilitation.Materials and methods The information was obtained through interviews with the mother, and evaluation of the child at nine and eleven months old, using the infant neurological assessment sheet, Inventory Operational Portage (IPO) and Gross Motor Function Measure (GMFM).Results The GMFM showed that the child had a higher trend in the items for lying and rolling, sitting, crawling and kneeling and minor changes in the items for standing, walking, running and jumping. In the IPO, the child progressed in all of the assessed areas: infant stimulation, motor development, socialization, self-care, cognition and language.Conclusion The child showed progress in psychomotor development in accordance with that expected for their age and initial assessment. It is suggested that children with this syndrome be treated by multidisciplinary teams in the first years of life, preventing delays and deviations in development.

Neurorehabilitation With Padovan Method in a Newborn With Treacher Collins Syndrome: A Case Report

“…From this, there is an extensive variability of surgical treatments for corrections of deformities, where the future effects of this early therapy must be considered, due to craniofacial development (Yoshida;Tonello;Alonso, 2012). The conduct may also be clinical and functional, to improve the motor function and neuropsychomotor development of the patient (Rodrigues et al, 2015).…”

“…However, speech disorders, chewing, swallowing and corneal exposure should be evaluated (Yoshida;Tonello;Alonso, 2012). The care of children with this disorder is multidisciplinary, requiring a team formed by an otorhinolaryngologist, ophthalmologist, neurologist, pediatrician, psychologist, dentist, social worker, occupational therapist and physiotherapist (Rodrigues et al, 2015). The rehabilitation of the patients can be done from a clinical or surgical process, depending on the extensiveness of the deformities (Lewillie, 2017).…”

A linguagem na Síndrome de Treacher Collins: uma análise dialógica

“…Ear deformities are also observed in the outer ear canal and middle ear (4) . Dental deformities are severe, causing facial nerve anteversion, open bite and contraction of the orbicular and mentonian muscles when the patient tries to close his/her mouth (5) .…”

“…A small lower jaw, associated with a posteriorly displaced tongue may cause breathing conditions, in addition to mobility disorders in the organs related to feeding and speech-sound production (5) . Therefore, although the observed malformations at birth do not develop, they frequently bring about conditions that harm the global development of the subjects with TCS, impairing their psychomotor, cognitive and linguistic performance (6) .…”

“…Due to the unique complexity of the craniofacial deformities caused by the TCS, and its outcomes, patients' treatment, affected by mandibulofacial dysostosis, must be multidisciplinar, comprising diverse knowledge fields, such as orthodontics,otorhinolaryngology, ophthalmology, speech-language therapy, neurology, psychology, among others, depending on the dynamics of each case (7,8) . However, despite the interest of several specialities, scientific publications on the clinical aspects of that syndrome are scarce, mainly the ones addressing therapeutic follow-up (5) .…”