PROJECT OF STUDY OF THE LANGUAGE

All the syndromic conditions associated to structural or functional anomalies of the chromosome 14 present some constant signs and symptoms, others less frequent instead.

In the syndrome RING 14, the signs and more constant symptoms concern the central nervous system and the retina, nevertheless they vary in number and gravity in the single patients. The entity of the mental and motor delay and the hypotonicity is varying too, and also the microcephalism is not constant. The epilepsy is an almost regular clinical sign and some smaller physical anomalies are typical and recurrent. The language is generally compromised, it too in a varying way.

In the deletions of the chromosome 14, at least those that interest the terminal part of the long arm, there are usually absent the signs of “epilepsy” and “ pigmentary anomalies of the retina.”

The psycho-motory delay and the language represent two variants present in both the genetic conditions. For that reason and for the elaboration of diagnostic and rehabilitating protocols it is necessary to study with deeper attention the evolution of these particular abilities.

Targets of the study: analysis of the communicative function starting from the phonological development, both in production and in understanding, through the spontaneous language.

Method: transcription and coding of the spontaneous language through the direct observation in ecological environment, compilation from the parents of the questionnaire ‘The first dictionary of the child'

Instruments: protocols defined, test of evaluation of the intelligence, exercises of repetition of bisillabe with and without cluster and of trisillabe with and without cluster. “The first dictionary of the child",(Caselli and Casadio, 1995) Italian adaptation of the MacArthur CDI (Communicative Developmental Inventory)

Specimen: all the childrens in contact with the association.

Aim : to delineate a neuro-knowledge profile of these cromosopaties as regards the development of the communication and language. Starting from the phonological analysis for passing in a second time to the study of the other components of the language.

For any kind of information: martinelli.paola@ring14.it