3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII)

Author:

Pucciarelli Valentina1,Gibelli Daniele1,Mastella Chiara2,Bertoli Simona3,Alberti Katia2,De Amicis Ramona3,Codari Marina4,Dolci Claudia1,Battezzati Alberto3,Baranello Giovanni5,Sforza Chiarella1ORCID

Affiliation:

1. LAFAS, Laboratory of Functional Anatomy of the Stomatognathic System, Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy

2. SAPRE, Parents Early Habilitation Service, Fondazione IRCCS Ca’ Granda, Policlinico Hospital, Milan, Italy

3. ICANS, International Center for the Assessment of Nutritional Status, Department of Food Environmental and Nutritional Sciences, Università degli Studi di Milano, Milan, Italy

4. Unit of Radiology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy

5. Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

Abstract

Summary Objectives The main objective of this study was to assess the three-dimensional facial characteristics of children affected by spinal muscular atrophy (SMA), a severe muscular disorder characterized by hypotonia, areflexia, weakness, and respiratory impairment. Materials/Methods Stereophotogrammetric facial scans from 22 SMA type II patients aged 2–7 years were obtained. Data were analysed using both inter-landmark distances and principal component analysis and compared with data collected from matched control subjects. Results Patients had wider transverse facial diameters, but smaller biocular width. Middle and lower anterior face heights were increased, whereas the mandibular ramus was shorter, with a reduced posterior-to-anterior face height ratio. Facial width-to-length ratio was reduced. In the sagittal plane, mandibular body length, and facial divergence were increased, whereas the gonial angles were decreased. In the horizontal plane, lower facial convexity was greater in patients, whereas mandibular convexity was smaller. Patients had smaller and down-slanted eye fissures, with a larger and more vertically developed nose. Limitations This study assessed a relatively small number of patients, due to the rare frequency of SMA type II. Conclusions/Implications SMA type II children possess peculiar facial alterations that may be due to the altered muscular activity. As feeding problems may derive also by malocclusion and masticatory muscular alterations, a detailed assessment of the craniofacial individual alterations should be considered in the standards of care of these patients.

Publisher

Oxford University Press (OUP)

Subject

Orthodontics

Reference38 articles.

1. Spinal muscular atrophy;Lunn;Lancet,,2008

2. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem?;van den Engel-Hoek;Neurology,,2009

3. Spinal muscular atrophy;D’Amico;Orphanet Journal of Rare Diseases,,2011

4. Nusinersen for the treatment of spinal muscular atrophy;Chiriboga;Expert Review of Neurotherapeutics,,2017

5. Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene;Dlamini;Neuromuscular Disorders: NMD,,2013

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