Bronwyn Carrigg|Louise Parry|Elise Baker|Lawrence D. Shriberg|Kirrie J. Ballard
Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech
Sydney Children's Hospital|University of Sydney|Sydney Children's Hospital|University of Sydney|University of Wisconsin–Madison|University of Sydney
study describes phenotype large family strong multigenerational history severe speech sound disorder ssd persisting adolescence adulthood approximately half cases aims determine whether core phenotype broader speech separated persistent resolved ssd cases ascertain uniqueness phenotype relative published caseseleven members pm family 955 years assessed across cognitive language literacy speech phonological processing numeracy motor domains group comparisons made using mannwhitney utest p 001 participant performances compared normative data using standardized tests limited published data persistent ssd phenotypessignificant group differences evident multiple speech language literacy phonological processing verbal intellect measures without overlapping scores persistent cases performed within impaired range multiple measures phonological memory impairment subtle literacy weakness present resolved ssd casesa core phenotype distinguished persistent resolved ssd cases characterized multiple verbal trait disorder including childhood apraxia speech several phenotypic differences differentiated persistent ssd phenotype pm family previously reported studies large families ssd including absence comorbid dysarthria marked orofacial apraxia study highlights comprehensive phenotyping advance behavioral study disorders addition forming solid basis future genetic neural studies