BACKGROUND: To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS). METHODS: eight Italian-speaking children with GLUT1DS (aged 4.6-15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery. RESULTS: All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar. CONCLUSIONS: GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DS patients.
BACKGROUND: To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS). METHODS: eight Italian-speaking children with GLUT1DS (aged 4.6-15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery. RESULTS: All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar. CONCLUSIONS:GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DSpatients.
Authors: Marie Hully; Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Nathalie Boddaert; Anna Kaminska; Karine Lascelles; Pascale de Lonlay; Claude Cances; Vincent des Portes; Agathe Roubertie; Diane Doummar; Anne LeBihannic; Bertrand Degos; Anne de Saint Martin; Elisabeth Flori; Jean Michel Pedespan; Alice Goldenberg; Catherine Vanhulle; Soumeya Bekri; Anne Roubergue; Bénédicte Heron; Marie-Anne Cournelle; Alice Kuster; Alexis Chenouard; Marie-Noelle Loiseau; Vassili Valayannopoulos; Nicole Chemaly; Cyril Gitiaux; Nathalie Seta; Nadia Bahi-Buisson Journal: Eur J Med Genet Date: 2015-07-17 Impact factor: 2.708
Authors: Dong Wang; Juan M Pascual; Hong Yang; Kristin Engelstad; Sarah Jhung; Ruo Peng Sun; Darryl C De Vivo Journal: Ann Neurol Date: 2005-01 Impact factor: 10.422
Authors: Wilhelmina G Leen; Joerg Klepper; Marcel M Verbeek; Maike Leferink; Tom Hofste; Baziel G van Engelen; Ron A Wevers; Todd Arthur; Nadia Bahi-Buisson; Diana Ballhausen; Jolita Bekhof; Patrick van Bogaert; Inês Carrilho; Brigitte Chabrol; Michael P Champion; James Coldwell; Peter Clayton; Elizabeth Donner; Athanasios Evangeliou; Friedrich Ebinger; Kevin Farrell; Rob J Forsyth; Christian G E L de Goede; Stephanie Gross; Stephanie Grunewald; Hans Holthausen; Sandeep Jayawant; Katherine Lachlan; Vincent Laugel; Kathy Leppig; Ming J Lim; Grazia Mancini; Adela Della Marina; Loreto Martorell; Joe McMenamin; Marije E C Meuwissen; Helen Mundy; Nils O Nilsson; Axel Panzer; Bwee T Poll-The; Christian Rauscher; Christophe M R Rouselle; Inger Sandvig; Thomas Scheffner; Eamonn Sheridan; Neil Simpson; Parol Sykora; Richard Tomlinson; John Trounce; David Webb; Bernhard Weschke; Hans Scheffer; Michél A Willemsen Journal: Brain Date: 2010-02-02 Impact factor: 13.501