There was very little known about this speech disorder and, consequently, her parents were very limited in resources and information. She attended speech therapy for thirteen years at her public school as well as a local college that offered speech therapy, California State University of Northridge...
More Resources: Kaufman Program | Research > Jake's Journey with Apraxia > Videos for Parents & SLPs > Implementation and Training: The Kaufman Treatment Kit includes a 52-page manual fully explaining this approach. Also available is an optional 6-hour, in-depth online training course discussing...
De novo origin of the respective PRKAR1B variants has been confirmed in five individuals, and the parents of individual 2 were not available for testing. Four individuals carry the same variant c.1003C>T (p.Arg335Trp), while the other two carry the missense variants: c.586G>A (p.Glu...