The parents/guardians of nine participants completed the Children's Communication Checklist (CCC).30 The phenotyping data have been uploaded to the Simons Foundation Autism Research Initiative (SFARI) database (available at http://sfari.org/resources/sfari- base). RESULTS Speech results and diagnosis...
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...
The Apraxia RainbowBee app is a multi-step, multi-modality program with colorful graphic, photo, audio, and video targets and fun engaging games. The program is designed to help enhance motor planning for children with an apraxic component that impacts t
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...
determining if the CNV was present in either parent as well as the proband’s siblings. Table2shows the presence/absence of the CNV in all individuals in the family who had WGS data. In some cases, parents did not have sufficient DNA available for WGS, but were part of our GWAS study...