Abstract
Our objective is to collect data and information for a better care and follow up in Cri du Chat patients. We conducted a literature review in August 2017 and then discuss the outcomes within the ABC (Associazione Bambini Cri du Chat, Italian CdC families support group). A proposal for clinical, laboratory and imaging work up should be performed at various ages in CdC patients. Follow up and rehabilitation should continue lifelong as some improvements can be obtained also in older ages and not to lose acquired skills.
Highlights
A diagnosis of deletion of the short arm of chromosome 5 can be obtained serendipitously prenatally after chorionic villus sampling of amniocentesis; usually this is performed in consideration of maternal age or due to abnormal ultrasound findings
Pediatrics published recommendations on abnormalities in a minority of families ECG and ultrasound is suggested in order to how to manage and follow up in Cri du Chat
In patients with an unbalanced translocation, this percentage rises up to 55% and it is associated with more complex diagnoses, such as Fallot tetralogy and endocardial cushion defect.[8]
Summary
Pediatrics published recommendations on abnormalities in a minority of families ECG and ultrasound is suggested in order to how to manage and follow up in Cri du Chat (about 10% of cases). The first year of life is the most relevant to set up future development.[15] Regular clinical evaluations are important; the recurrence of controls currently applied in Italy (at 15 days, 2/3 months, 5/6 months, 12 months) seems appropriate for CdC patients. CdC patients will follow the same vaccinations scheduled as for unaffected children according to each national of life, so we would recommend the anesthesiology evaluation to take place in a hospital close to the patient’s home, where surgery or diagnostic tests will be performed. Infancy the Italian families will be performed.[12] therapists, teachers and various professionals
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