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Published in: BMC Pediatrics 1/2020

01-12-2020 | Disorders of Intellectual Development | Research article

Etiology of intellectual disability in individuals from special education schools in the south of Brazil

Authors: Luan Freitas Oliveira, Tiago Fernando Chaves, Nathacha Baretto, Gisele Rozone de Luca, Ingrid Tremel Barbato, Jorge Humberto Barbato Filho, Maristela Ocampos, Angelica Francesca Maris

Published in: BMC Pediatrics | Issue 1/2020

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.
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Metadata
Title
Etiology of intellectual disability in individuals from special education schools in the south of Brazil
Authors
Luan Freitas Oliveira
Tiago Fernando Chaves
Nathacha Baretto
Gisele Rozone de Luca
Ingrid Tremel Barbato
Jorge Humberto Barbato Filho
Maristela Ocampos
Angelica Francesca Maris
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2020
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-020-02382-5

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