Abordagem diagnóstica de crianças com atraso do desenvolvimento e deficiência intelectual

Raquel Boy

Resumo


Atraso no desenvolvimento ou deficiência intelectual são motivos comuns de avaliação diagnóstica pelo pediatra. Existe uma multiplicidade de causas, muitas de origem genética, com comorbidades e implicações de manejo da criança e da família. O objetivo desta revisão narrativa é descrever uma abordagem diagnóstica sob a ótica da genética médica para a criança com atraso global no desenvolvimento ou deficiência intelectual, provendo um guia atualizado para auxiliar o pediatra. Aspectos conceituais e benefícios do diagnóstico precoce, também são abordados. Diversos e modernos métodos complementares têm contribuído para o aumento dos índices de diagnósticos causais e serão expostos sucintamente.Descritores: Atraso no desenvolvimento; Deficiência intelectual; Genética; Diagnóstico.

Referências


Victora CG, Aquino EML, Maternal and child health in Brazil: progress and challenges; Lancet 2011; 377:1863–76

Srour M, Shevell M . Genetics and the investigation of developmental delay/intellectual disability. Arch Dis Child 2014: 99-386-389). Arch Dis Child. 2014 Apr;99(4):386-9.

Boy Silva RT, Vasconcelos MM, Paiva IS. A criança com deficiência intelectual – aspectos genéticos, diagnósticos e terapêuticos. In:Campos Jr D, Burns ARB, Lopes FA, org. Tratado de Pediatria. São Paulo: Ed. Manole, 2014. p.1315-22.

Moeschler JB, Shevell M and COMMITTEE ON GENETICS. Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays. Pediatrics 2014;134;e903. Downloaded from pediatrics.aappublications.org by guest on March 6, 2016.

Shevell MI, Ashwal S, Donley D et al. Practice parameter: evaluation of the child with global developmental delay. Neurology 2003;60(3):367–80.

Sherr EH, Shevell MI. Global developmental delay and mental retardation/intellectual disability. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF.eds Pediatric neurology: principles and practice. 5th edn. Philadelphia: Elsevier Saunders, 2012:554–74

Boy Silva RT. Estudo clínico e epidemiológico de indivíduos portadores de retardo mental inseridos no programa de educação especial do Estado do Rio de Janeiro. Rio de Janeiro, Instituto Fernandes Figueira, Fundação Oswaldo Cruz, 1996. Dissertação,101p

Jacobs EA, Copperman SM, Joffe A et al. Fetal alcohol syndrome and alcohol-related neurodevelopmental disorders. Pediatrics 2000;106(2):358-361.

Jones KL, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet. 1973;2:999-1001.

Momino W, Sanseverino MTV, Schüler-Faccini L. A exposição pré-natal ao álcool como fator de risco para comportamentos disfuncionais: o papel do pediatra. J. Pediatr. (Rio J.) [Internet]. 2008 Aug [cited 2017 Apr 04] ; 84( 4 Suppl ): S76-S79. Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572008000500011&lng=en. http://dx.doi.org/10.1590/S0021-75572008000500011.

WHO. 2016 IHR Procedures concerning public health emergencies of international concern (PHEIC). http://www.who.int/ihr/procedures/pheic/en/. Accesso em 3 de fevereiro de 2016.

Oliveira WK, Cortez-Escalante J, De Oliveira WTG. 2016. Increase in Reported Prevalence of Microcephaly in Infants Born to Women Living in Areas with Confirmed Zika Virus Transmission During the First Trimester of Pregnancy – Brazil, 2015.

OMIM (Online Mendelian Inheritance in Man). Disponível em . Acesso em 15 de abril de 2016.

Wajner M, Wannmacher CMD, Gaidzinski D, et al. Detection of inborn errors of metabolism in patients of pediatric intensive care units of Porto Alegre, Brazil. Comparison between the prevalence of such disturbances in a selected and an unselected sample. Brazilian Journal of Genetics. 1986, IX: 331-340.

Scott K, Gadomski T, Kozicz T, et al. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014 May 15.

Boy RT, Guida G. Aspectos Diagnósticos dos Erros Inatos do Metabolismo na Infância. Revista Inovar Saúde. 2014;8:54-58.

Wada Y. Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls. 2016 Apr 20. [Epub ahead of print]. Acesso em 23 de abril de 2016.

van Karnebeek CDM, Jansweijer MCE. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. European Journal of Human Genetics. 2005;13:6-25.

Weise A, Mrasek K, Klein E, et al. Microdeletion and microduplicaton syndromes. J Histochem Cytochem. 2012 May;60(5):346-358.

Siggberg L, Ala-Mello S, Jaakkola E, et al. Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. Am J Med Genet A. 2010 Jun;152A(6):1398-410.

Tucker T, Montpetit A, Chai D, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics. 2011;4:25.

Xiang B, Zhu H, Shen Y, et a. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn. 2010 Mar;12(2):204-12

Cappuccio G, Vitiello F, Casertano A, et al. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr. 2016 Apr 12;42(1):39.

Battaglia A, Carey JC. Diagnostic evaluation of developmental delay-mental retardation: an overview. Am J Méd Genet2003;117C:3-14.

Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet. 2002;111:238-242.

Iglesias A, Anyane-Yeboa K, Wynn J et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014 Dec;16(12):922-31. Epub 2014 Jun 5. Acesso em 12 de abril de 2016.

Yavarna T, Al-Dewik N, Al-Mureikhi M, et al. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015 Sep;134(9):967-80. Epub 2015 Jun 16. Acesso em 10 de abril de 2016.

American Academy of Pediatrics. A Toolkit to Improve Care for Pediatric Patients with Genetic Conditions in Primary Care. Disponível em: htps://geneticsinprimarycare.aap.org/Documents/Think%20Genetics_FINAL.pdf Acesso em 23 de abril de 2016.