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Cri du Chat Syndrome Support Group



5p- Society



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These publications are the result of the job of the members

of our Scientific Committee in collaboration with the patients

and their families of Cri du chat Support Group of Italy.

These publications contain guidelines for the patients' families, physicians, therapists and other operators.

You can download the Pdf e-book.






On this pubblication there are the general guidelines about the syndrome. Is the result of the job of the members of A.B.C. Scientific Committee with the collaboration of the A.B.C. families.

In this guide you will find very useful information for the family, physicians and pediatricians, for therapists and for all the people who have a relationship with Cri du chat children.

This is the first pubblication by a Cri du chat patients organizzation for help the families.


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A.B.C. was founded in San Casciano Val di Pesa near Florence in Italy in November 1995, thanks to Maura Masini, the mother of Timothy. She had received little information on her son’s illness when it was diagnosed, and so decided to get in touch with other families who shared her own problems.
The purposes of the Association were to try to eliminate the families’ feeling of isolation by allowing them to talk about their experience and to exchange useful advice; to increase the knowledge of the children’s difficulties so that health-care providers would be better prepared to deal with them; to make public opinion and the medical services aware of the needs of the children’s families; to keep both the families and the caregivers informed of all new developments.
Since November 1995 much progress has been made thanks to the precious work of many voluntary helpers and professional people: at the moment the Association consists of almost 195 families, and the Italian Registry of Cri du Chat Syndrome, set up in the 1980’s by Prof. Paola Cerruti Mainardi, contains data on more than 200 children. Many of the aims of the Association have been achieved; there have been numerous Family Meetings and the study of the Syndrome has been promoted and financed.
A research project has been carried out thanks to the support of A.B.C. on a large number of Cri du Chat chil- dren, using the most recent techniques in cytogenetic- molecular analysis (FISH) and the collaboration of both national and international specialists. The project was
also supported by Telethon Italia, and the results have been presented at the most important Genetics Congresses in Italy and the United States, and the Cri du Chat Syndrome Support Group in the United Kingdom.
The studies published up to now regard the evaluation of the psychomotor development in a large group of Italian Cri du Chat children, and have permitted the elaboration of a chart which describes the specific development of the children, information not pre- viously available. An international study has managed to obtain specific development curves for weight, height and skull size.
The results of the study on the genotype-phenotype correlation of a large number of Cri du Chat children have shown a correlation between the clinical severity and the size and type of the deletion, and are impor- tant in a practical way because they permit far greater precision than before in diagnosis, treatment, rehabilitation and genetic counselling.
All the information collected from this and other on- going research is of great help to pediatricians, genetists, health-care providers and especially to the families.
This collaboration is the result of the efforts of the A.B.C. Association to coordinate the work of specialists and families. The bond that has been created and which becomes stronger with time, the gratitude and appreciation of the families, the feeling of hope that is so different from past despair are all comforting and stimulating factors that continue to make the work of the Association worthwhile.


Prof. Paola Cerruti Mainardi

Honorary President of A.B.C.

Scientific Committee






This work is dedicated to all those who are dealing with this rare disease, the Cri du Chat Syndrome (SCDC), and need to know a little more about it.
The book is the result of an experience that started some years ago, which had as its primary objective the training of a therapist within the scientific team of the association. A therapist that, for the first time, would have specialised in this rare genetic disease.
Afterwards, the second objective was to concretely start the therapist’s work on the field.


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A long series of home visits to the residence of the families with Cri du Chat children begun with the aims of assisting parents, various professionals involved in the children’s education and teachers. As well, the project was able to initiate a data collection on the intellectual, motor, language and especially behavioural development of Cri du Chat children.
The therapist conducting the first and second phase of this challenging project was Dr. Serena Nardi, who was trained with the indispensable help of Dr. Marilena Pedrinazzi, Dr. Luisa Maddalena Medolago Albani, Dr. Luigi Sangalli and under the supervision of Prof. Paola Cerruti Mainardi.

The result of this work, which lasted three years, has been summarised in this publication in the form of a “manual” providing important observations on the syndrome and useful information for us parents and for the people working with our children. This data, always associated with scientific methods, are the foundation for future updates and improvements, as the research will move forward.
The contribution made by all members of the A.B.C. Scientific Committee to this project, since its launch, has been unquestionably great and they all deserve our greater gratitude.
Those who have directly experienced the presence of the therapist in their homes are well aware of the usefulness of this project and will now be able to better understand some passages through reading this straightforward volume. New parents can instead enjoy the experience encountered by others in the past and start one foot head.
Last but not least, my gratitude goes to all those families that, moved by the same desire and need to learn more about their children, have offered so much of their personal experiences to complete this manual.
To them also goes a big encouragement to further pursue working with their children to neutralise, as much as possible, the damages caused by this rare disease.


Maura Masini,
Mother of Timothy
President of the A.B.C. Associazione Bambini Cri du Chat








E-mail: abc@criduchat.it