title: Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children.
abstract: Childhood apraxia of speech (CAS) is a neurogenic Speech Sound Disorder whose etiology and neurobiological correlates are still unclear. In the present study, 32 Italian children with idiopathic CAS underwent a comprehensive speech and language, genetic and neuroradiological investigation aimed to gather information on the possible behavioral and neurobiological markers of the disorder. The results revealed four main aggregations of behavioral symptoms that indicate a multi-deficit disorder involving both motor-speech and language competence. Six children presented with chromosomal alterations. The familial aggregation rate for speech and language difficulties and the male to female ratio were both very high in the whole sample, supporting the hypothesis that genetic factors make substantial contribution to the risk of CAS. As expected in accordance with the diagnosis of idiopathic CAS, conventional MRI did not reveal macrostructural pathogenic neuroanatomical abnormalities, suggesting that CAS may be due to brain microstructural alterations.
authors.affiliation: Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Pisa, Italy. Electronic address: achilosi@fsm.unipi.it.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Chilosi
authors.affiliation: Laboratorio di Linguistica 'Giovanni Nencioni', Scuola Normale Superiore, Piazza dei Cavalieri 7, 56126 Pisa, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Lorenzini
authors.affiliation: Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Pisa, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Fiori
authors.affiliation: Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Pisa, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Graziosi
authors.affiliation: Unità di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica Consiglio Nazionale delle Richerche, Via G.Moruzzi 1, 56124 Pisa, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Rossi
authors.affiliation: Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Pisa, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Pasquariello
authors.affiliation: Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Pisa, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Cipriani
authors.affiliation: Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128 Pisa, Italy; Dipartimento di Medicina Clinica e Sperimentale, Università di Pisa, Via Roma 67, 56126 Pisa, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cioni
mesh_terms: D001072:Apraxias / Q000235:genetics / Q000473:pathology / Q000503:physiopathology* / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009446:Neurobiology; D013060:Speech; D066229:Speech Sound Disorder / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000523:psychology
keywords: Array-Comparative Genomic Hybridization; Childhood apraxia of speech; Language disorders; Magnetic resonance imaging; Maximum performance task; Speech Sound Disorders