Departamento de Biologia Celular, Embriologia e Genética, Universidade Federal de Santa Catarina-UFSC, Florianópolis, SC, 88040-900, Brazil.
Hospital Infantil Joana de Gusmão, Florianópolis, SC, 88025-301, Brazil.
BMC Pediatr. 2020 Nov 4;20(1):506. doi: 10.1186/s12887-020-02382-5.
Intellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which directly interfere with interpersonal relationships and the environment. In Western countries, individuals with ID are overrepresented in the health system, often due to associated comorbidities, and its life-time cost places ID as one of the most expensive conditions of all diagnoses in the International Classification of Diseases. Most of the people affected (75%) live in low-income countries, suffer from malnutrition, lack health care, and do not have access to adequate treatment. The aim of this study was to obtain an estimate of the diagnostic status as well as the prevalence of familial ID among individuals with serious (moderate or severe) ID in a region of the State of Santa Catarina, investigating attendees of special education schools of the Florianópolis Macroregion.
This was a cross-sectional study conducted between August 2011 and August 2014, through a semi-structured screening questionnaire for the collection of relevant developmental, clinical, familial and educational data, applied in an interview to guardians of students of special education schools of the macroregion of Florianópolis.
The participant special schools enrolled close to 1700 students during the study period and the questionnaire was applied to 849 (50.5%). The male to female ratio of the participants was 1.39:1. Clear etiologic explanations were relatively scarce (24%); most diagnoses referring only to the type and the degree of impairment and for the majority (61.4%) the cause was unknown. About half were sporadic cases within their families (considering three generations). For 44.2% at least one other case of an ID-related condition in the extended family was mentioned, with 293 (34.5%) representing potential familial cases.
Here we describe the epidemiological profile, the available diagnostics, etiology, family history and possible parental consanguinity of participants with ID of special education schools in the South of Brazil. The main results show the need for etiological diagnosis and uncover the relevance of potential hereditary cases in a population where consanguineous unions have a relatively low frequency (0,6%) and highlight the need for public health actions.
智力障碍（ID）的特征是显著的限制，影响智力功能、适应行为和实际技能，直接干扰人际关系和环境。在西方国家，患有 ID 的个体在卫生系统中所占比例过高，这往往是由于相关的合并症所致，其终生费用使 ID 成为国际疾病分类中所有诊断中最昂贵的条件之一。大多数受影响的人（75%）生活在低收入国家，遭受营养不良，缺乏医疗保健，无法获得足够的治疗。本研究的目的是在圣卡塔琳娜州的一个地区获得严重（中度或重度）智力障碍个体的诊断状况以及家族性智力障碍的患病率估计，该地区调查了弗洛里亚诺波利斯大都市地区特殊教育学校的学生。
这是一项横断面研究，于 2011 年 8 月至 2014 年 8 月进行，通过半结构化筛查问卷收集相关的发育、临床、家族和教育数据，应用于对大都市弗洛里亚诺波利斯特殊教育学校学生监护人的访谈中。
在研究期间，参与的特殊学校招收了近 1700 名学生，共对 849 名（50.5%）学生应用了问卷。参与者中男性与女性的比例为 1.39:1。明确的病因解释相对较少（24%）；大多数诊断仅指类型和损害程度，而对于大多数（61.4%）患者，病因不明。大约一半是家庭内的散发性病例（考虑三代人）。在大家庭中至少有一例与智力障碍相关疾病的情况占 44.2%，其中 293 例（34.5%）代表潜在的家族病例。
在这里，我们描述了巴西南部特殊教育学校智力障碍患者的流行病学特征、可用的诊断、病因、家族史和潜在的遗传性病例。主要结果表明需要进行病因诊断，并揭示了在一个近亲结婚相对较低频率（0.6%）的人群中潜在遗传性病例的相关性，强调了需要采取公共卫生行动。
