Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Departamento de Psicobiologia, EPM/UNIFESP, Brazil.
J Intellect Disabil Res. 2018 Jun;62(6):467-473. doi: 10.1111/jir.12476. Epub 2018 Feb 20.
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.
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.
In total, 73 questionnaires were completed: 44 females and 29 males, ranging from 9.5 months old to 40 years old (mean = 13.8 years; median = 12 years). Most of the parents noticed the typical cat-like cry at birth (94.4%). The age at diagnosis of CdCS ranged from the time of birth to 180 months (mean = 14 months; median = 6 months), while one case was diagnosed during pregnancy. In all of the cases, the diagnosis of CdCS was made by G-banding 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.
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-up and the need for the expansion of genetic services in Brazil.
猫哭综合征（CdCS）是一种由 5 号染色体短臂缺失引起的遗传综合征。尽管 CdCS 的主要临床特征众所周知，但文献中很少详细描述其表型的神经认知和行为特征。在这项研究中，我们从父母的角度分析了 CdCS 的主要表型特征。
我们向在巴西猫哭综合征协会注册的 700 个巴西家庭发送了一份问卷。这些问题涉及 CdCS 的特定领域，例如妊娠和分娩情况、疾病在家庭中的复发、当前的主要健康问题以及认知发展方面。
共完成了 73 份问卷：44 名女性和 29 名男性，年龄从 9.5 个月到 40 岁（平均 13.8 岁；中位数 12 岁）。大多数父母在出生时就注意到了典型的猫叫声（94.4%）。CdCS 的诊断年龄从出生到 180 个月不等（平均 14 个月；中位数 6 个月），而有一个病例是在妊娠期间诊断出来的。在所有病例中，CdCS 的诊断均通过 G 带核型分析进行。在 66.2%的病例中，父母接受了细胞遗传学检查。共有 52.1%的父母回答说，他们不记得 CdCS 在其家庭中的复发风险是多少。报告的主要健康问题如下：吞咽问题（80.3%）、喂养问题（80.3%）、先天性心脏病（31.5%）、脊柱异常（28.8%）和神经系统症状（20.5%），包括癫痫发作（11%）。报告的行为问题如下：攻击性行为、刻板行为、焦虑、恐惧症和生殖器操作/自慰。所有病例均有神经发育迟缓。72.2%的患者能够独立行走。大约 50%的患者从未出现过表达性语言，大多数患者日常生活依赖他人。
该问卷是 CdCS 支持小组的首创举措，本研究中使用的答案可以改善对这些患者的医疗保健援助，因为它们从父母的角度关注需求。此外，近一半的家庭表示他们不记得有关复发风险的信息，这再次强调了遗传咨询随访的重要性，以及巴西扩大遗传服务的必要性。
