A longitudinal study in atypical Cri-du chat profile: A single case report

Maria Rosa Pizzamiglio, Cristino Volpe, Laura Piccardi

Centro Ricerche di Neuropsicologia, IRCCS Fondazione Santa Lucia, Rome, Italy.
Servizio di Riabilitazione Infantile, IRCCS Fondazione Santa Lucia, Rome, Italy.

DOI: 10.4236/crcm.2013.22027                

Abstract

Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disorder characterized by a severe mental delay, minimal verbal abilities and severe learning difficulties. Methods: Here, we report two neuropsychological assessments of an Italian girl (FS) with CdCS who was affected by a moderate mental delay. The first assessment was made at 2.3 years and second at 6.5 years. Results: Her cognitive profile was characterized by a discrepancy between social-communicative and visual-motor skills. Specifically, her linguistic skills were better than her ability to copy a drawing or play with a set of building blocks. FS showed good lexical competence in both comprehension and production. Differently, her grammatical skills (i.e. comprehension and production) were somewhat defective. Conclusion: The FS’s case, due to her moderate mental delay and her preserved linguistic skills, allowed investigating some aspects of this syndrome never explored before.

Keywords

Cat Cry Syndrome; 5p-Syndrome; Narrative Discourse; Longitudinal Study; Mental Delay

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	Neibuhr, E. (1978) The Cri-du-Chat syndrome. Epidemiology, cytogenetics and features. Human Genetics, 44, 227-275.
[2]	Udwin, O. and Dennis, J. (1995) Psychological and behaviour phenotypes in generally determined syndromes: A review of research findings. In: G. O’Brien and W. Yules, Eds., Behavioural phenotypes, Mac-Keeith Press, London, 90-208.
[3]	Wu, Q., Niebuhr, E., Yang, H. and Hansen, L. (2005) Determination of the “critical region” for cat-like cry of Cri-du-Chat syndrome and analysis of candidate genes by quantitative PCR. European Journal of Human Genetics, 13, 475-485. doi:10.1038/sj.ejhg.5201345
[4]	Cerruti Mainardi, P., Perfumo, C., Calì, A., Coucorde, G., Pastore, G., Cavani, S., Zara, F., Overhauser, J., Pierluigi, M. and Dagna Bricarelli, F. (2001) Clinical and molecular characterization of 80 patients with 5p deletion: Genotype-phenotype correlation. Journal of Medical Genetics, 38, 417-420.
[5]	Silber, D.L., Engel, E. and Merrill, R.E. (1966) So-called “cri du chat syndrome”. American Journal of Mental Deficiency, 71, 152-154.
[6]	Cornish, K.M. (1996) The neuropsychological profile of Cri-du-Chat syndrome without significant learning disabilities. Developmental Medicine & Child Neurology, 38, 941-944. doi:10.1111/j.1469-8749.1996.tb15050.x
[7]	Kristoffersen, K.L. (2008) Speech and language development in cri du chat syndrome: A critical review. Clinical Linguistics & Phonetics, 22, 443-457. doi:10.1080/02699200801892108
[8]	Cornish, K.M. and Pigram, J. (1996) Developmental and behavioural characteristics of Cri-du-Chat syndrome. Archives of Disease in Childhood, 75, 448-450. doi:10.1136/adc.75.5.448
[9]	Cornish, K.M. and Munir, F. (1998) Receptive and expressive language skills in children with Cri-du-Chat syndrome. Journal of Communication Disorders, 31, 73-81. doi:10.1016/S0021-9924(97)00052-X
[10]	Pizzamiglio, M.R., Piccardi, L. and Guariglia, C. (2002) Asymmetries in neuropsychological profile in Cri-du-Chat syndrome. Euresco Conference. Brain Development and Cognition in Human Infants. Emergence of Social Communication: Hands, Eyes, Ears, Mouth. Acquafredda Di Maratea, 7-12 June 2002.
[11]	Cornish, K.M. (1996) The neuropsychological profile of Cri-du-Chat syndrome without significant learning disabilities. Developmental Medicine & Child Neurology, 38, 941-944. doi:10.1111/j.1469-8749.1996.tb15050.x
[12]	Tamraz, J., Rethoré, M.O., Lejeune, J., Outin, C., Goepel, R., Stievenart, J.L., Iba-Zizen, M.T., Cabanis, E.A. and ARSEP (Association pour la recherche sur la sclérose en plaques, Paris) (1993). Morphométrie encéphalique en IRM dans la maladie du Cri du Chat. A propos de sept patients, avec revue de la littérature. Annales de Génétique, 36, 75-87.
[13]	Cornish, K.M., Cross, G., Green, A., Willatt. L. and Bradshaw, J.M. (1999) A neuropsychological-genetic profile of atypical cri du chat syndrome: Implications for prognosis. Journal of Medical Genetics, 36, 567-570.
[14]	Griffiths, R. (1986) The abilities of babies. The Test Agency, London.
[15]	Caselli, M.C. and Casadio, P. (1995) Il primo vocabolario del bambino. Guida all’uso del questionario MacArthur per la valutazione della comunicazione e del linguaggio nei primi due anni di vita. Franco Angeli Editore, Milano.
[16]	Wechsler, D. (1973) WPPSI scala wechsler a livello prescolare e di scuola elementare. Organizzazioni Speciali, Firenze.
[17]	Dunn, L.M. and Dunn, L. (1981) Peabody picture vocabulary test. American Guidance Service, Mimnesota.
[18]	Chilosi, A.M. and Cipriani, P. (1995) Test di Comprensione grammaticale per bambini. Edizioni del Cerro, Tirrenia.
[19]	Slobin, D.I. (1985) Crosslinguistic evidence for the language-making capacity. Lawrence Erlbaum Associates, Mahwah.
[20]	Bortolini, U. (1995) Prove per la valutazione fonologica del linguaggio infantile. Tipografia veronese, Padova.
[21]	Beery, K.E. and Buktenica, N.A. (1989) Developmental test of visual-motor integration: Administration, scoring and teaching manual. Modern Curriculum Press, Cleveland.
[22]	Preda, C. (2000) V.M.I. developmental test of visual motor integration. Firenze.
[23]	Sohner, L. and Mitchell, P. (1991). Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. Journal of Communication Disorders, 24, 13-20. doi:10.1016/0021-9924(91)90030-M