Fig. 1.

Individuals who lacked functional language (LEVELL = 2) or had poor speech intelligibility (CARTIC or ARTIC5 = 2 or 3) were AFFECTED for the NVMSD:ALL phenotype. If the language level was fair/good (LEVELL = 0 or 1) and current intelligibility was fair/good (CARTIC = 0 or 1) they were labeled UNAFFECTED, otherwise they were labeled UNKNOWN. Note the CARTIC ADI-R score took precedence over the ARTIC5 score (as long as ARTIC5 was not 2 or 3 which was established by the previous test) then its contribution was not considered for this distinction. Only those individuals that were affected according to the NVMSD:ALL phenotype were evaluated on their level of spoken language comprehension (NVMSD:C phenotype). Individuals with some language comprehension (CCOMPSL = 0, 1 or 2) were labeled AFFECTED, those with very little to no comprehension (CCOMPSL = 3 or 4) were labeled UNKNOWN, and the remainder as UNAFFECTED. * Note that individuals had to be at least 2 years old to have a LEVELL score and had to be at least 4 years old to have a CARTIC score but could potentially be older. Also, if an individual scored 2 for the LEVELL variable, they did not receive a score for CARTIC or ARTIC5 since they did not produce enough language to be evaluated.