Redenlab pediatric specialist Prof Angela Morgan co-authors a new study on speech models in minimally verbal children with autism spectrum disorder. The collaboration with scientists from Boston and Melbourne provides preliminary evidence that subphenotypes of children with MV ASD may exist.
Acoustic features that predict healthy aging are different than those previously reported for the pathologic voice. We propose a model of healthy and pathologic voice development in which voice characteristics are mediated by the inability to monitor vocal productions associated with age-related hearing loss.
Miglustat is currently the only approved disease-specific treatment shown to be effective in stabilizing neurological symptoms. Miglustat has previously been reported to halt or improve early dysphagia and cognitive symptoms. Here we examine the characteristics of dysphagia, the relationship between dysphagia and the presence of cognitive impairment, and longitudinal changes in swallowing function during miglustat treatment in adult-and-adolescent-onset NPC.
FOXP1-related disorder is characterized by a complex speech and language phenotype with prominent dysarthria, broader motor planning and programming deficits, and linguistic-based phonological errors. Diagnosis of the speech phenotype associated with FOXP1-related dysfunction will inform early targeted therapy.
Published in the European Journal of Human Geneticswe expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.