Cristina Mei|Evelina Fedorenko|David J. Amor|Amber Boys|Caitlyn Hoeflin|Peter Carew|Trent Burgess|Simon E. Fisher|Angela Morgan
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
Murdoch Children's Research Institute|Massachusetts General Hospital|Murdoch Children's Research Institute|Murdoch Children's Research Institute|Massachusetts Institute of Technology|Murdoch Children's Research Institute|Victorian Clinical Genetics Services|Max Planck Institute for Psycholinguistics|University of Melbourne
recurrent deletions 600kb region 16p112 associated highly penetrant form childhood apraxia speech cas yet prior findings based small potentially biased sample using retrospectively collected data examine prevalence cas larger cohort individuals 16p112 deletion using prospectively designed assessment battery broader speech language phenotype associated carrying deletion also examined 55 participants 16p112 deletion 47 children 8 adults underwent deep phenotyping test presence cas speech language diagnoses standardized tests oral motor functioning speech production language nonverbal iq conducted majority children 77 half adults 50 met criteria cas speech outcomes observed including articulation phonological errors ie phonetic cognitivelinguistic errors respectively dysarthria ie neuromuscular speech disorder minimal verbal output even typical speech receptive expressive language impairment present 73 70 children respectively cooccurring neurodevelopmental conditions eg autism nonverbal iq correlate presence cas findings indicate cas highly prevalent children 16p112 deletion symptoms persisting adulthood many yet cas occurs context broader speech language profile neurobehavioral deficits research elucidate specific genetic neural pathways leading speech language deficits individuals 16p112 deletions resulting targeted speech therapies addressing etiological pathways