Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders

BackgroundSome symptoms of orofacial dysfunction, such as dysphagia and dysarthria, are commonly encountered in congenital or childhood-onset neuromuscular diseases (NMD), while others, such as reduced saliva control and difficulties using facial expressions, are not as well researched. Overall, there is a lack of knowledge regarding the extents to which different orofacial functions are affected in persons with NMD.ObjectiveTo identify orofacial dysfunction profiles at group level for congenital or childhood-onset NMD.MethodsThis database study included 206 individuals in the age range of 3-48 years with 21 different congenital or childhood-onset NMD, categorized as anterior horn cell diseases, neuropathies and myopathies. Orofacial dysfunction profiles from the Nordic Orofacial Test - Screening were extracted from a national database of oral health and orofacial functions in rare health conditions.ResultsIn the study population, 70% presented with signs of orofacial dysfunction. Neuropathies had the lowest rate of orofacial dysfunctions (25%), followed by myopathies (72%). Anterior horn cell diseases had the highest rate of orofacial dysfunctions (82%). In all the groups, there were individuals without orofacial dysfunction, except for the subgroups of Spinal Muscular Atrophy type 1 and Duchenne Muscular Dystrophy with age range of 19-49 years in which all the participants (100%) demonstrated orofacial dysfunction according to NOT-S.ConclusionsThis study identifies a considerable proportion of individuals with congenital and childhood-onset NMD exhibiting signs of orofacial dysfunction, indicating the need for further investigation. It also shows to what extents different orofacial functions are affected in subgroups of NMD.