[The Cri du Chat syndrome: a study on the quality of care].
OBJECTIVE
The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference.


METHODS
We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients.


RESULTS
These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies.


CONCLUSIONS
Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.
SOC Pediatria-Genetica Clinica, Ospedale S. Andrea, Vercelli, Italia. genetica.clinica@aslvc.piemonte.it
P
P
Cerruti Mainardi
M
M
Spunton
V
V
Arcuri
G
G
Pastore
M
M
Pedrinazzi
S
S
Nardi
C
C
Castronovo
D
D
Alessi
A
A
Guala
D000293:Adolescent; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000534:rehabilitation*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008831:Microcephaly / Q000235:genetics; D011787:Quality of Health Care; D011788:Quality of Life; D011795:Surveys and Questionnaires; D055815:Young Adult