Facial emotion recognition deficits in relatives of children with autism are not associated with 5HTTLPR

Neves, Maila de Castro Lourenço das; Trémeau, Fabien; Nicolato, Rodrigo; Lauar, Hélio; Romano-Silva, Marco Aurélio; Corrêa, Humberto

doi:10.1590/s1516-44462011000300009

Cited by 12 publications

(7 citation statements)

References 38 publications

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“…No difference is seen in serotonin levels in the autism cases with various HTTLPR genotyping. Serotonin levels could be influenced by other genetic markers than HTTLPR in SLC6A4, as this is supported by a recent study on autism in families that did not show any association of some social impairment tests with 5-HTTLPR polymorphism (Neves Mde, et al , 2011),[ 31 ] while another study found an association between SLC6A4 SNP rs16965628, located in intron one, and some behavioral problems (Lindholm Carlstrφm et al , 2012). [ 32 ] It was also found that vitamin D (calcitriol) activates the transcription of the serotonin-synthesizing gene tryptophan hydroxylase 2 (TPH 2) in the brain (Patrick and Ames, 2014).…”

Section: Discussionmentioning

confidence: 92%

A study of blood serotonin and serotonin transporter promoter variant (5-HTTLPR) polymorphism in Egyptian autistic children

2015

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Background:Autism spectrum disorder (ASD) is a complex, heterogeneous neurodevelopmental disorder with onset during early childhood. Most studies have reported an elevation in platelet serotonin in persons with autism. The serotonin (5-hydroxytryptamine; 5-HT) transporter in the brain uptakes 5-HT from extracellular spaces. It is also present in platelets, where it takes up 5-HT from plasma. Polymorphisms in serotonin transporter gene (SLC6A4) were frequently studied in many neuropsychiatric disorders.Materials and Methods:We have measured the plasma 5-HT levels in 20 autistic male children and 20 control male children by the enzyme-linked immunosorbent assay (ELISA) method. In addition, the SLC6A4 promoter region (5-HTTLPR) insertion/deletion (I/D) polymorphism was studied, using whole genomic DNA.Results:Plasma serotonin was significantly low in autistic children compared to control (P = 0.001), although correlation to severity of autism was not significant. The frequency of short (S) allele in autism cases was 10% and in the control group it was absent.Conclusion:Our study demonstrated an increased prevalence of 5-HTTLPR S allele in autism subjects. Significantly decreased plasma serotonin was detected in autism subjects, with no significant relationship between 5-HTTLPR genotype and plasma 5-HT being evident.

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Section: Discussionmentioning

confidence: 92%

A study of blood serotonin and serotonin transporter promoter variant (5-HTTLPR) polymorphism in Egyptian autistic children

2015

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“…Emotion recognition is an important aspect of social cognition. It was shown that there was an inability to recognize emotions in unaffected first-degree relatives of children with ASD [16,17].…”

Section: Introductionmentioning

confidence: 99%

Broad autism phenotype: theory of mind and empathy skills in unaffected siblings of children with autism spectrum disorder

Eyüboğlu

Baykara

Eyüboğlu

2017

Psychiatry and Clinical Psychopharmacology

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To cite this article: Murat Eyuboglu, Burak Baykara & Damla Eyuboglu (2018) Broad autism phenotype: theory of mind and empathy skills in unaffected siblings of children with autism spectrum disorder, Psychiatry and Clinical Psychopharmacology, 28:1, 36-42, ABSTRACT OBJECTIVE: Difficulties in social communication is core syptoms of autism spectrum disorder (ASD), and it is often present in first-degree relatives in varying degrees. However, these subclinical autistic traits, which are thought to be related to genetic susceptibility factors, may be heterogeneous in family members. This prospective, the aim of this study was to compare unaffected siblings of children with ASD in terms of theory of mind, empathy skills, and broad autism phenotype (BAP). METHODS: Fourty-one children who were diagnosed Autistic Disorder, Asperger Disorder and Pervasive Developmental Disorder-not otherwise specified according to Diagnostic and Statistical Manual of Mental Disorders, 4th Edition and their unaffected siblings and 43 controls of typically developing children were included. The Schedule for Affective Disorders and Schizophrenia for School-age Children -Present and Lifetime Version was conducted all children with the aim of excluding a psychiatric diagnosis. False-belief tasks and Emotion Recognition Scales were used to evaluate theory of mind and empathy skills. The Social Communication Questionnaire was administered by the clinician in order to evaluate subthreshold autistic symptoms. RESULTS: Unaffected siblings of ASD children exhibited worse performance in theory of mind and emotion recognition tasks. Additionally, these children had more autistic symptoms and there was a correlation with autism symptoms and social cognition tasks. DISCUSSION: In compatible with BAP, the results indicated that the siblings of children with ASD showed a neurocognitive profile associated with ASD at a slight level, and they had more subsyndromal autism symptoms compared with healthy children. The findings also indicated that there was a weakness in skills of empathy and theory of mind ability of siblings of ASD. ARTICLE HISTORY

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“…In a similar way several studies have indicated also that parents or siblings of children with ASD showed lower scores in recognize emotions tasks [34,39,42,59,61,64,65] than Down syndrome or typically developing children relatives. However, Sucksmith with colleagues [62], after controlling for age and non-verbal IQ, did not detect differences in recognizing the basic emotions between parents of children with ASD and controls.…”

Section: Participantsmentioning

confidence: 54%

Social Communication and Language Deficits in Parents and Siblings of Children with ASD — A Short Review

Pisula¹,

Ziegart-Sadowska²

2015

Autism Spectrum Disorder - Recent Advances

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Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders associated with severe deficits in social communication, often accompanied by restricted patterns of behaviour, activity and interests [1]. ASD prevalence has been on the rise and is currently estimated to be 1:68 with higher rates for boys (1:42) than girls (1:189) [2]. Social, communication and cognitive deficits typical for ASD can affect individual sufferers with various severity and in many different combinations, which prompted the concept of autistic continuum, later replaced by autistic spectrum [3, 4] Already in the earliest publications on autism, Kanner [5] and Asperger [6] identified certain similarities in the untypical severity of certain traits and behaviours in children with autism and their parents, such as tendency to social withdrawal, limited interest in people, late speech development and pedantry. Further research demonstrated that autistic traits are more prevalent in the closest relatives of individuals with ASD than in other groups [7-11]. Subtle, subclinical traits or characteristics that parallel the defining features of autism, present in non-affected individuals, in particular the first-degree relatives of people with autism, are referred to as "Broader Autism Phenotype" (BAP) [10-13]. The presence of specific characteristics in terms of social and communication skills, cognitive processes and personality in parents and siblings of individuals with ASD may suggest genetic involvement in the aetiology of autism, what is strongly supported by evidence obtained from twin and family studies. Research in this area may expand our knowledge of the nature of autism and the mechanisms underlying the emergence of its characteristic symptoms [14]. It has been estimated that BAP characteristics may be presented in at least 10-20% of parents and siblings of children with these disorders [12, 15]. For instance, Bolton et al. [12] found out

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Facial emotion recognition deficits in relatives of children with autism are not associated with 5HTTLPR

Cited by 12 publications

References 38 publications

A study of blood serotonin and serotonin transporter promoter variant (5-HTTLPR) polymorphism in Egyptian autistic children

A study of blood serotonin and serotonin transporter promoter variant (5-HTTLPR) polymorphism in Egyptian autistic children

Broad autism phenotype: theory of mind and empathy skills in unaffected siblings of children with autism spectrum disorder

Social Communication and Language Deficits in Parents and Siblings of Children with ASD — A Short Review

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