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In many children suffering from Chromosome 14 syndromes verbal comunication is compromised: in some cases, kids develop good comprehension ability, but in others are not able to communicate, or, at least, comunication is really hard for them. Many of them are supported by speech-therapy activities, but in some cases they need to learn alternative language systems, such as the sign language or comunication through pictures or computer programs.  
Doctors, therapists and speech therapists cannot be supported by scientific documents about this issue, since, for the moment, the development of language in people suffering from Chromosome 14 syndromes has not been studied in any scientific paper or project.
Sometimes, the fact that these kids are able to understand simple conversations but can’t answer to other people’s questions and, above all, can’t express needs or desires, can result into a “problematic behavior” or in an introvert attitude. The possibility to understand this kind of problem and, as a consequence, to offer an effective therapy means to improve the child and his/her family’s everyday life. Because of material, cultural and linguistic reasons this project is based in Italy so far, but if there are foreign researches groups are interested into carry on the project in other countries, this Association is willing to share the study results.  

Project Objective

The project main aim is to provide a brief description of Chromosome 14 syndromes children’s linguistic characteristics, since, according to the researches; this aspect has been studied neither in Italy nor in foreign countries. 
Because of the great variety of language manifestation it is difficult to describe a homogenous situation, the aim of the research is to analyze case by case, in order to explore different language abilities, according to a kid’s age and his/her type of Chromosome 14 syndrome. In fact, a different genetic situation may mean a different linguistic situation. 


The project is patronized by the Psychology Department of Milano-Bicocca University.


The project began in 2010 and is still in progress.


Observation: at first, the researcher collects some examples of linguistic expression in semi-structurated situation in which the child has an interaction with his/her mother or other family members. In addition, the researcher has to submit the child standard tests in order to analyze his/her cognitive and linguistic competences. All the sessions are recorded and transcribed according to the research aim.

Evaluation: the first observations are used also in a second time, in order to improve the research methodology.

Elaboration: the datas are used to create a kid’s individual profile and to identify relevant aspects and characteristics in language development.

Operative phases, 2010 – 2011

The research has been based on three groups:
Group 1: observation of a two-year-old kids suffering Ring14 every three months;
Group 2: observation of a “borderline” kid, manifesting micro-deletions once a year; Group 3: observation of five kids (between five and eight years old) manifesting Chromosome 14 deletions every six months.
All the Italian families have filled a questionnaire about their child’s comunication abilities.


• Study introduction during national congresses
• Publication of an article in the Italian journal “Psichiatria dell’Infanzia e dell’Adolescenza”

Operative Phases 2012 - 2013

In this period the researches will carry on the observation of the same groups Verranno proseguite le valutazioni ai gruppi di studio presi in analisi in precedenza e saranno inserite nuove valutazioni:

Group 1: observation of a two-year-old kids suffering Ring14 every three months;
Group 2: observation of “borderline” children manifesting micro-deletions – expansion of the kids group
Group 3: observation of a group of kids suffering from deletions.
Researchers have decided to observe the oldest kids (two children) once a year and the youngest kids (3 children) twice a year. In addition, it has been decided to apply an ADOS observation in order to find any autistic-related aspects.
Group 4: the research includes new underage children. These kids will be observed once by the researches of Milano-Bicocca University. The observation will be based on linguistic and cognitive analysis, as well as ADOS tests.

Expected Results:

 redaction of a relation that can be useful not only to the kid’s family and his/her medical team, but also to everybody who ha sto deal with children suffering from  Chromosome 14 syndromes;

 description of the Association’s children’s linguistic profile;

 introduction of the study to an International journey.




Developing with ring 14 syndrome: A survey in different countries (276 KB)
Linguistic and psychomotor development in children with chromosome 14 deletions (452 KB)
Letĺs talk about language! (62 KB)
Linguistic and psychomotor development abstract (27 KB)
Linguistic and psychomotor development in children with chromosome 14 deletions (452 KB)
Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions (111 KB)
Interview with Prof. D'Odorico (29 KB)
Research report (45 KB)
Linguistic skills in Italian children with chromosome 14 aberrations (199 KB)
Presentation of language study (376 KB)

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