[22q11.2  microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis].

CONCLUSION: The present study highlights the difficulty of establishing the diagnosis when the major features of the 22q11.2DS are absent during the 1st months of life. This is particularly true when there is no congenital defect. Special attention must be given to speech disorders in childhood and neuropsychological disorders later in life. The association between 22q11.2DS and early-onset parkinson disease implies that adult neurologists should be aware of this diagnosis. For adult patients, familial occurrence is the most frequent cause of diagnosis in spite of clinical signs suggestive of 22q11.2DS. The management of these patients involves better information of medical and paramedical staff in order to refer them to the geneticist earlier in life. PMID: 28967605 [PubMed - as supplied by publisher]
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research