Importância do diagnóstico de síndrome syngap1 no transtorno do espectro autista para o tratamento odontológico

ZINK, Adriana Gledys; PINHO, Marcelo Diniz de; PINHO, Marcel Zink de; MARTINS, Fernando Baeder de

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RGO - Revista Gaúcha de Odontologia

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Sumário

CLINICAL • Rev Gaúch. Odontol. 69 • 2021 • https://doi.org/10.1590/1981-863720210004120190091 copiar

Importância do diagnóstico de síndrome syngap1 no transtorno do espectro autista para o tratamento odontológico

Autoria SCIMAGO INSTITUTIONS RANKINGS

RESUMO

Apresentamos um paciente com diagnóstico clínico inicial de Transtorno do Espectro Autista nível 3 e geneticamente confirmado como Síndrome Syngap1 (proteína ativadora Synaptic RasGTPase). O objetivo deste estudo foi mostrar a importância de exames genéticos e diagnósticos precisos associados a síndromes na elaboração do planejamento e condução de tratamentos odontológicos. O novo diagnóstico possibilitou a reorganização do plano e pôde ser útil na tomada de decisão para prática clínica do tratamento odontológico de pacientes com diagnóstico de Syngap1.

Termos de indexação
Transtorno do Espectro Autista; Odontologia; Genética

Severity level	Social Communication	Restricted and repetitive behaviors
Level 3	Serious deficits in verbal and non-verbal social communication skills; serious damage to operation; great limitation in initiating social interactions; minimal response to social openings that come from others.	Behavioral inflexibility; Extreme difficulty in dealing with change or other restricted behaviors; Great suffering / difficulty to change the focus.
Level 2	Serious deficits in verbal and non-verbal social communication skills; Apparent social damage even in the presence of support; Limitation in initiating social interactions and reduced or abnormal response to social openings that come from others.	Behavioral inflexibility Difficulty dealing with change or other restricted / repetitive behaviors. Suffering and / or difficulty changing focus or actions
Level 1	In the absence of support, deficits in the media cause notable losses. Difficulty in initiating social interactions and clear examples of atypical or unsuccessful responses to the social openings of others.	Behavioral inflexibility causes significant interference with functioning in one or more contexts. Difficulty in switching activities. Problems for organization and planning.

Genomic Position	Variant/Consequence	Presence in	Classification
Chr6:33.405.539	c.857 T>C (p.Leu286Pro) ENST00000629380	Heterozygosis (one copy)	Definitely pathogenic

Diagnosis	Nº OMIM
Cognitive behavioral deficit associated with the SYNGAP1 gene	612621

Location	Phenotype	Phenotype number MIM	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus number MIM
6p2132	Autosomal dominant mental retardation 5	612621	AD	3	SYNGAP1	603384

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[1] Correspondence to: AG ZINK. E-mail: zinkpinho@yahoo.com.br.