Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome

European Journal of Medical Genetics

Volumn 55, Issue 6-7, 2012, Pages 433-436

  Marignier, Stéphanie ^a   Lesca, Gaetan ^a,b,c   Marguin, Jessica ^a   Bussy, Gérald ^a   Sanlaville, Damien ^a,b,c   des Portes, Vincent ^a,b,d  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ DE LYON   (France)

^c LYON NEUROSCIENCE RESEARCH CENTER   (France)

^d CNRS   (France)

Author keywords

5p deletion; Childhood apraxia of speech; Cri du chat syndrome; Mental retardation

Indexed keywords

APRAXIA; ARTICLE; ATTENTION; CASE REPORT; CAT CRY SYNDROME; CHILD; CHILDHOOD DISEASE; CHROMOSOME 5; CHROMOSOME ANALYSIS; COGNITION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE SEVERITY; DYSPRAXIA; EXECUTIVE FUNCTION; FEMALE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; INTELLIGENCE; KARYOTYPE; LANGUAGE; LANGUAGE DISABILITY; LEARNING DISORDER; MENTAL DEFICIENCY; MOTOR PERFORMANCE; NEUROLOGIC EXAMINATION; PHENOTYPE; PSYCHOMETRY; SCHOOL CHILD; SCORING SYSTEM; SHORT TERM MEMORY; SPEECH DISORDER; TASK PERFORMANCE; WORKING MEMORY;

APRAXIAS; CHILD; COGNITION; COMPARATIVE GENOMIC HYBRIDIZATION; CRI-DU-CHAT SYNDROME; FEMALE; HUMANS; PHENOTYPE;

EID: 84862185946     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.03.008     Document Type: Article

References (15)

1. Lejeune J., Lafourcade J., Berger R., Vialatte J., Boeswillwald M., Seringe P., Turpin R. Trois cas de délétion partielle du bras court d'un chromosome 5. Comptes Rendus de l'Académie des Sciences 1963, 257:3098-3102.
2. Cerruti Mainardi P., Guala A., Pastore G., Pozzo G., Dagna Bricarelli F., Pierluigi M. Psychomotor development in Cri du Chat syndrome. Clin. Genet. 2000, 57:459-461.
3. Cornish K.M., Bramble D., Munir F., Pigram J. Cognitive functioning in children with typical cri du chat (5p-) syndrome. Dev. Med. Child. Neurol. 1999, 41:263-266.
4. Rodriguez-Caballero A., Torres-Lagares D., Rodriguez-Perez A., Serrera-Figallo M.A., Hernández-Guisado J.M., Machuca-Portillo G. Cri du chat syndrome: a critical review. Med. Oral Pathol. Oral Cir Bucal 2010, 15:e473-e478.
5. American Speech Language-Hearing Association (ASHA). Childhood Apraxia of Speech [Technical Report], 2007.
6. Perron-Borelli M. Echelles Différentielles D'efficience Intellectuelle-forme Révisée 1996, ECPA, Paris.
7. Forrest K. Diagnostic criteria of developmental apraxia of speech used by clinical speech-language pathologists. Am. J. Speech Lang. Pathol. 2003, 12:376-380.
8. Kristoffersen K.E. Speech and language development in cri du chat syndrome: a critical review. Clin. Linguist Phon 2008, 22:443-457.
9. Cornish K.M., Munir F. Receptive and expressive language skills in children with cri-du-chat syndrome. J. Commun. Disord. 1998, 31:73-80.
10. Cornish K., Bramble D. Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management. Dev. Med. Child. Neurol. 2002, 44:494-497.
11. Mainardi P.C., Perfumo C., Calì A., Coucourde G., Pastore G., Cavani S., Zara F., Overhauser J., Pierluigi M., Bricarelli F.D. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J. Med. Genet. 2001, 38:151-158.
12. Mainardi P.C. Cri du chat syndrome. Orphanet J. Rare Dis. 2006, 1:33.
13. Moreira L.M., de Carvalho A.F., Borja A.L., Pinto P.S., Silveira A., de Freitas L.M., Falcão Mde L. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J. Appl. Genet. 2008, 415-420.
14. Vargha-Khadem F., Watkins K., Alcock K., Fletcher P., Passingham R. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc. Natl. Acad. Sci. U. S. A. 1995, 92:930-933.
15. MacDermot K.D., Bonora E., Sykes N., Coupe A.M., Lai C.S., Vernes S.C., Vargha-Khadem F., McKenzie F., Smith R.L., Monaco A.P., Fisher S.E. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am. J. Hum. Genet. 2005, 76:1074-1080.