Importance of syngap1 syndrome diagnosis in autism spectrum disorder for dental treatment

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

doi:10.1590/1981-863720210004120190091

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Sumário

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

Importance of syngap1 syndrome diagnosis in autism spectrum disorder for dental treatment

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

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

This paper reports on a patient with initial clinical diagnosis of Autism Spectrum Disorder level 3 and genetically confirmed as Syngap1 Syndrome (Synaptic RasGTPase activating protein). This study aimed to show the importance of genetic testing and accurate diagnoses associated with syndromes for the planning and accomplishment of dental treatments. The new diagnosis allowed reorganization of the plan and was useful in decision-making for the clinical practice of dental treatment for patients diagnosed with Syngap1.

Indexing terms
Autism Spectrum Disorder; Dentistry; Genetics

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.