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We have to understand what is the point Diagnostic Evaluation of the Child Affected with Intellectual Disability 29 at practical level. As well outlined by R. Hennekam quite recently, the question is whether we have to face with the mutation or with the patient. I think that we can agree with the author when he states that “clinical genetics would not exist without patients” because all our efforts, also at research level, should be directed to improve heath of the patients and their families. Etiological Diagnosis: the Final or the Starting Point?
New York: Plenum Medical Book Co. Bankier, A. et al. (1988) Dysmorphology: problems in nomenclature. Dysmorph and Clin Genet, 2, 24-50. , Carey, J. (2003) Diagnostic evaluation of developmental delay/mental retardation. Am J Med Gen, 117C, 3-14. , Selicorni, A. & Larizza, L. (2006) Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Medical Genetic, 7, 77-81. 30 A. Cereda, A. Passarini, M. Cerutti et al. , Mandel, J. (2001) Monogenic causes of X-linked mental retardation.
1990) that might contribute to the widespread hearing disorders observed in Down’s syndrome (Vicari, 2004). This disorder, if organic, could be related to many of the subsequent difficulties seen in the learning of language. Karrer et al. (1998) have reported delayed development of cerebral inhibition using visual event related potentials (ERP) in a visual recognition memory paradigm. There is also evidence of a more widespread abnormality in EEG coherence that seems to reflect the generally impoverished dendritic environment (Nadel, 2003).