Genetics of autistic spectrum disorders

Santos, Camila Alves dos; Melo, Hugo Christiano Soares

doi:10.24862/cco.v13i3.756

Cited by 3 publications

(2 citation statements)

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“…A study by Santos et al [11] found significant involvement of genes SHANK3, NLGN3, NLGN4, NRXN1, MDGA2, FHIT, HTR2A, SHANK2, GRIA3, ZNF778, PRKCα, CDH15, DIAPH3, GCH1, GRM5, MARK1, SLC17A6, IMMP2L, BZRAP1, SYNGAP1, ANK3, MAP1A, GABRR2, LAMC3, LRRC7, LRRIQ3, CADPS1, NUFIP, SEMA3A, SNAP29, MBD2, GAD2, DGKH, PARD3, PIK3CG, RELN, NRCAM, LAMB1, WNT2, FOXP2, GRM8, UBE2H, A2BP1, ATP10A, CADPS2, CNTN4, CNTNAP2, DLGAP2, EGR2, EN2, GABRB3, MET, SLC4A10, DISC1, NPTX2, PCDH9, AUTS2 and RBFOX1 in patients with ASD. Attention should be paid to genetic mapping and accurate diagnosis of patients for better customized follow-up, both therapeutic and using drugs.…”

Section: Discussionmentioning

confidence: 99%

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

Zink

Pinho

et al. 2021

RGO, Rev. Gaúch. Odontol.

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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.

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Section: Discussionmentioning

confidence: 99%

“…Even though ASD is apparently highly heritable, the transmission does not conform to Mendelian laws, thus it is unlikely that the condition is simply linked to the X chromosome, dominant or recessive. Thus, the condition presumably involves several genes in different chromosomes interacting with moderate effect and composing the ASD [11].…”

Section: Introductionmentioning

confidence: 99%

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

Zink

Pinho

et al. 2021

RGO, Rev. Gaúch. Odontol.

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Transtorno do espectro do autismo e o uso materno e paterno de medicamentos, tabaco, álcool e drogas ilícitas

Costa,

Almeida,

Maia

et al. 2024

Ciênc. saúde coletiva

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Resumo O presente estudo objetivou investigar a associação entre o TEA e o uso materno e paterno de medicamentos, tabaco, álcool e drogas ilícitas. Trata-se de um estudo caso-controle realizado com crianças e adolescentes diagnosticados com TEA e indivíduos neurotípicos. Os dados foram colhidos por meio de entrevista com as mães ou responsáveis. Foram analisadas as variáveis sexo e idade das crianças/adolescentes; idade dos pais; uso de medicamentos antes e durante a gestação; classes de medicamentos usados na gestação; tabagismo materno e paterno; etilismo materno e paterno; uso de drogas ilícitas pelos pais. Para a análise das informações, utilizou-se o modelo de regressão logística, além da razão de chances (OR) bruta e ajustada. Os resultados mostraram que, após os ajustes, foi encontrada associação entre o uso materno na gestação de antitérmicos/analgésicos (OR = 2,26; IC95% 1,29-3,95; p < 0,040) com o TEA. Já o uso de tabaco, álcool e drogas ilícitas materno e paterno, antes e durante a gestação, não apontou relação com o TEA. Os dados encontrados sugerem que existe influência de fatores ambientais no desenvolvimento do TEA.

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Maternal and paternal licit and illicit drug use, smoking and drinking and autism spectrum disorder

Costa,

Almeida,

Maia

et al. 2024

Ciênc. saúde coletiva

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The aim of this study was to investigate the association between maternal and paternal licit and illicit drug use, smoking and drinking and autism spectrum disorder (ASD). We conducted a case-control study with children and adolescents diagnosed with ASD and neurotypical individuals. The data were collected using a semi-structured questionnaire administered during interviews with the children’s mothers or guardians. The following variables were analyzed: child sex and age; maternal and parental age; use of medicines before and during pregnancy; classes of medicines used during pregnancy; maternal and paternal smoking; maternal and paternal drinking; maternal and paternal illicit drug use. The data were analyzed using logistic regression and crude and adjusted odds ratios (OR). After adjustment, the results showed an association between maternal use of antipyretics/pain killers during pregnancy (OR = 2.26; 95%CI 1.29-3.95; p < 0.040) and ASD. No association was found between maternal and paternal smoking, drinking and illicit drug use before and during pregnancy and ASD. The findings suggest that the development of ASD is influenced by environmental factors.

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Genetics of autistic spectrum disorders

Cited by 3 publications

References 0 publications

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

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

Transtorno do espectro do autismo e o uso materno e paterno de medicamentos, tabaco, álcool e drogas ilícitas

Maternal and paternal licit and illicit drug use, smoking and drinking and autism spectrum disorder

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