title: Intrafamilial phenotypic variability of Specific Language Impairment.
abstract: We investigated language functions in 32 members of a four generation family with several members affected by Specific Language Impairment with an extensive language test battery in order to determine the prevalence, overlap, and homogeneity of linguistic deficits within one pedigree. In sum, one fourth of all family members tested fulfilled the criteria of Specific Language Impairment. Despite of some similarities in language abilities, different combinations of language deficits were observed, and individual language profiles varied substantially. Thus, though there is a high prevalence of language deficits in this family which raises the likelihood of a genetic origin of these deficits, and though all affected study participants displayed selective linguistic deficits with normal non-verbal functioning, language testing showed considerable variance in overlap and homogeneity of linguistic deficits. Thus, even in one genetic population, an underlying linguistic disorder manifests itself in different language abilities to a variant degree.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria. Electronic address: elisabeth.bartha-doering@meduniwien.ac.at.
authors.forename: Lisa
authors.initials: L
authors.lastname: Bartha-Doering
authors.affiliation: Department of Phoniatrics and Pedaudiology, University Hospital of Muenster, Kardinal-von-Galen Ring 10, 48149 Muenster, Germany. Electronic address: sabrina.regele@uni-muenster.de.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Regele
authors.affiliation: Department of Phoniatrics and Pedaudiology, University Hospital of Muenster, Kardinal-von-Galen Ring 10, 48149 Muenster, Germany. Electronic address: d.deuster@uni-muenster.de.
authors.forename: Dirk
authors.initials: D
authors.lastname: Deuster
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria. Electronic address: rainer.seidl@meduniwien.ac.at.
authors.forename: Rainer
authors.initials: R
authors.lastname: Seidl
authors.affiliation: Institute of Human Genetics, University Hospital Muenster, Vesaliusweg 12-14, 48149 Muenster, Germany. Electronic address: bogdano@uni-muenster.de.
authors.forename: Nadja
authors.initials: N
authors.lastname: Bogdanova
authors.affiliation: Institute of Human Genetics, University Hospital Muenster, Vesaliusweg 12-14, 48149 Muenster, Germany. Electronic address: albrecht.roepke@ukmuenster.de.
authors.forename: Albrecht
authors.initials: A
authors.lastname: Röpke
authors.affiliation: Institute of Human Genetics, University Hospital Muenster, Vesaliusweg 12-14, 48149 Muenster, Germany. Electronic address: wieacker@uni-muenster.de.
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
authors.affiliation: Department of Phoniatrics and Pedaudiology, University Hospital of Muenster, Kardinal-von-Galen Ring 10, 48149 Muenster, Germany. Electronic address: am.zehnhoff@uni-muenster.de.
authors.forename: Antoinette
authors.initials: A
authors.lastname: Am Zehnhoff-Dinnesen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D007806:Language Disorders / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D007807:Language Tests; D008037:Linguistics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult