scholarly journals How cognitive, social, and emotional profiles impact humor appreciation: sense of humor in autism spectrum disorder and Williams syndrome

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Noémie Treichel ◽  
Daniel Dukes ◽  
Koviljka Barisnikov ◽  
Andrea C. Samson
Keyword(s):  
Autism Spectrum Disorder ◽  
Williams Syndrome ◽  
Positive Emotions ◽  
Genetic Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Social Approach ◽  
Social And Emotional ◽  
Emotional Processes ◽  
Humor Appreciation

Abstract Humor is a complex and multi-faceted phenomenon composed of a variety of cognitive, social, and emotional processes. This paper will discuss humor appreciation in individuals with autism spectrum disorder (ASD) and individuals with Williams syndrome (WS), a rare genetic disorder mainly characterized by intellectual disabilities, high social approach tendencies and high positive emotions. Drawing on research on the comprehension and appreciation of humor in individuals with ASD, this paper aims to better understand how the particular cognitive, social, and emotional profile of individuals with WS might affect their appreciation of humor and how such research could ultimately lead to a greater understanding of the nature of humor.

Effects of familiarization on odor hedonic responses and food choices in children with autism spectrum disorders

Autism ◽  
2018 ◽  
Vol 23 (6) ◽  
pp. 1460-1471 ◽  
Author(s):  
Anne-Claude Luisier ◽  
Genevieve Petitpierre ◽  
Annick Clerc Bérod ◽  
David Garcia-Burgos ◽  
Moustafa Bensafi
Keyword(s):  
Autism Spectrum Disorder ◽  
Positive Emotions ◽  
Time Window ◽  
Children With Autism ◽  
Food Choices ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Food Education ◽  
Food Odors ◽  
Specific Increase

This study assessed whether olfactory familiarization can render food odors more pleasant, and consequently food more attractive, to children with autism spectrum disorder. Participants were first presented with a series of food odors (session 1). Then, they were familiarized on four occasions (time window: 5 weeks) with one of the two most neutral odors (the other neutral odor was used as control) (session 2). In session 3, participants smelled the entire series of odors again. Both verbal and facial responses were compared from session 1 to session 3. After session 3, the children were presented with two identical foods (one containing the familiarized odor and one the control odor) and were asked to choose between these foods. Results revealed (1) a specific increase in positive emotions for the familiarized odor and (2) that 68% of the children chose the food associated with the “familiarized odor” (children who chose the “familiarized odor” food exhibited significantly more sensory particularities). These findings suggest that it is possible to modulate olfactory emotions and expand the dietary repertoire of children with autism spectrum disorder. Application of this paradigm may enable innovative prospects for food education in autism.

scholarly journals First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

2019 ◽  
Vol 9 (6) ◽  
pp. 137 ◽  
Author(s):  
José Guevara-Campos ◽  
Lucía González-Guevara ◽  
José Guevara-González ◽  
Omar Cauli
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Genetic Disorder ◽  
Autism Spectrum ◽  
Carnitine Deficiency ◽  
Spectrum Disorder ◽  
Physical Growth ◽  
Metabolic Decompensation ◽  
Reye Syndrome ◽  
Primary Carnitine Deficiency

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene SLC22A5, located in exon 8. PCD can be accompanied by less common clinical signs, which may delay its diagnosis because the resulting global clinical picture can closely resemble other metabolic disorders. In this case, the patient was prescribed a carnitine-enriched diet, as well as oral carnitine at a dose of 100 mg/kg/day. PCD has a better prognosis if it is diagnosed and treated early; however, a high level of clinical suspicion is required for its timely and accurate diagnosis.

scholarly journals Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Autism ◽  
2020 ◽  
pp. 136236132096507
Author(s):  
Amy Niego ◽  
Antonio Benítez-Burraco
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Williams Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cognitive Domain ◽  
Cognitive Profiles ◽  
The Social ◽  
Spectrum Disorders ◽  
And Function

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of subjects with these two conditions. We found a significant overlap between differentially expressed genes compared to neurotypical controls, with most of them exhibiting a similar trend in both conditions, but with genes being more dysregulated in Williams syndrome than in autism spectrum disorders. These genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Lay abstract Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.

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