Cri du Chat syndrome: Characteristics of 73 Brazilian patients.

摘要: BACKGROUND Cri du Chat syndrome (CdCS) is a genetic caused by deletions in the short arm of chromosome 5. Although main clinical features CdCS are well known, neurocognitive and behavioural characteristics phenotype rarely described detail literature. In this study, we analysed phenotypic from parental perspective. METHOD A questionnaire was sent to 700 Brazilian families that were registered Association CdCS. The questions involved specific domains CdCS, such as pregnancy birth conditions, recurrence disease family, current major health problems, aspects cognitive development. RESULTS total, 73 questionnaires completed: 44 females 29 males, ranging 9.5 months old 40 years (mean = 13.8 years; median = 12 years). Most parents noticed typical cat-like cry at (94.4%). age diagnosis ranged time 180 months (mean = 14 months; median = 6 months), while one case diagnosed during pregnancy. all cases, made G-banding karyotype analysis. 66.2% underwent cytogenetic investigation. total 52.1% answered they did not remember what risk their family. problems reported follows: swallowing (80.3%), feeding congenital heart (31.5%), spine abnormalities (28.8%), neurological symptoms (20.5%), including seizures (11%). aggressive behaviour, stereotypies, anxiety, phobias, genital manipulation/masturbation. Neurodevelopmental delay cases. Independent walking achieved 72.2% patients. Approximately 50% patients never presented expressive language, most dependent on others for daily activities. CONCLUSIONS pioneer initiative support group, answers used study can improve care assistance these because focus attention demands addition, nearly half stated information regarding risk, which reinforces importance counselling follow-up need expansion services Brazil.