{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:13:41Z","timestamp":1762542821277,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,2,20]],"date-time":"2018-02-20T00:00:00Z","timestamp":1519084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS. The questions involved specific domains of CdCS, such as pregnancy and birth conditions, recurrence of the disease in the family, current major health problems, and aspects of cognitive development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 73 questionnaires were completed: 44 females and 29 males, ranging from 9.5\u00a0months old to 40\u00a0years old (mean\u00a0=\u00a013.8 years; median\u00a0=\u00a012 years). Most of the parents noticed the typical cat\u2010like cry at birth (94.4%). The age at diagnosis of CdCS ranged from the time of birth to 180\u00a0months (mean\u00a0=\u00a014\u00a0months; median\u00a0=\u00a06\u00a0months), while one case was diagnosed during pregnancy. In all of the cases, the diagnosis of CdCS was made by G\u2010banding karyotype analysis. In 66.2% of the cases, the parents underwent cytogenetic investigation. A total of 52.1% of the parents answered that they did not remember what the recurrence risk of CdCS was in their family. The main health problems that were reported were as follows: swallowing problems (80.3%), feeding problems (80.3%), congenital heart disease (31.5%), spine abnormalities (28.8%), and neurological symptoms (20.5%), including seizures (11%). The behavioural problems that were reported were as follows: aggressive behaviour, stereotypies, anxiety, phobias, and genital manipulation\/masturbation. Neurodevelopmental delay was reported in all of the cases. Independent walking was achieved in 72.2% of the patients. Approximately 50% of the patients never presented expressive language, and most of the patients are dependent on others for their daily activities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The questionnaire was a pioneer initiative in the CdCS support group, and the answers used in this study can improve the health care assistance to these patients because they focus attention on the demands from a parental perspective. In addition, nearly half of the families stated that they did not remember information regarding recurrence risk, which reinforces the importance of genetic counselling follow\u2010up and the need for the expansion of genetic services in Brazil<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.12476","type":"journal-article","created":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T18:46:02Z","timestamp":1519238762000},"page":"467-473","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Cri du Chat syndrome: Characteristics of 73 Brazilian patients"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9223-7341","authenticated-orcid":false,"given":"R. S.","family":"Honjo","sequence":"first","affiliation":[{"name":"Department of Pediatrics \u2010 Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a HCFMUSP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. B.","family":"Mello","sequence":"additional","affiliation":[{"name":"Departamento de Psicobiologia EPM\/UNIFESP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. S. E.","family":"Pimenta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. C.","family":"Nu\u00f1es\u2010Vaca","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2010 Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a HCFMUSP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. M.","family":"Benedetto","sequence":"additional","affiliation":[{"name":"Departamento de Psicobiologia EPM\/UNIFESP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. B. F.","family":"Khoury","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2010 Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a HCFMUSP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Befi\u2010Lopes","sequence":"additional","affiliation":[{"name":"Departamento de Fisioterapia Fonoaudiologia e Terapia Ocupacional FMUSP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. A.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2010 Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a HCFMUSP  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.75.5.448"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.02.005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcomdis.2010.03.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076985"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/02699206.2014.904442"},{"key":"e_1_2_8_7_1","first-page":"3098","article-title":"Trois cas de deletion partielle du bras court d'un chromosome 5","volume":"257","author":"Lejeune J.","year":"1963","journal-title":"Comptes Rendus de l'Acad\u00e9mie des Sciences"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-33"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.12.004"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<153::AID-AJMG8>3.0.CO;2-#"},{"key":"e_1_2_8_11_1","unstructured":"Minist\u00e9rio da Sa\u00fade \u2013 Brasil(2014)Pol\u00edtica Nacional de Aten\u00e7\u00e3o Integral \u00e0s Pessoas com Doen\u00e7as Raras. 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