Broad autism phenotype

广泛的自闭症表型
  • 文章类型: Journal Article
    In the recent years, growing attention has been paid to the use of camouflaging strategies by adult populations suffering from autism spectrum disorder (ASD) with milder manifestations and without intellectual impairment, which may lead to a delay in diagnosis or even a misdiagnosis. In fact, high-functioning ASD individuals were reported to be more aware of their communication difficulties and were more likely make considerable efforts to adjust their behavior to conventional rules of non-autistic individuals, learning to imitate other non-ASD individuals. Moreover, females reported a higher frequency of camouflaging strategies, suggesting a role of camouflaging in the gender gap of the ASD diagnosis. Although camouflaging strategies can sometimes grant a better level of adjustment, even resulting in a hyper-adaptive behavior, they are also often correlated with negative mental health consequences due to the long-term stress associated with continuous attempts to adapt in day-to-day life. In this framework, the aim of the present work was to review the available studies that assessed the presence and correlates of camouflaging strategies in individuals with ASD. Although the literature available on the topic is still scarce, some interesting correlations between camouflaging and anxious and depressive symptoms, as well as suicidality, were highlighted. In particular, the controversial and sometime opposite thoughts and results about camouflaging may be clarified and integrated in light of a dimensional approach to psychopathology.
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  • 文章类型: Case Reports
    The demographics, weight statuses, and dietary patterns of people with autism or the broad autism phenotype who experience a severe nutrient deficiency disease due to symptoms of avoidant/restrictive food intake disorder have not been well established.
    The primary objective of this review was to examine the relationship between the demographics, weight statuses, dietary patterns, and nutrient deficiency diseases that characterize the most severe manifestations of avoidant/restrictive food intake disorder symptomology associated with autism or the broad autism phenotype.
    A systematic review of English and non-English articles published up to August 29, 2019, on the Scopus, PubMed, and Cumulative Index to Nursing and Allied Health Literature Plus electronic databases was conducted. Additional cases were identified through the reference list of all included articles. The search terms used were \"autis∗ AND (deficiency OR scurvy)\". Only case reports or case series in which a person of any age who had been identified as having a formal diagnosis of autism or autism symptoms and a disease of nutritional deficiency due to self-imposed dietary restrictions were included. Data were independently extracted by 8 authors using predefined data fields.
    A total of 76 cases (patients were aged 2.5 to 17 years) from 63 articles that were published from 1993 through 2019 were found. More than 85% cases (65 of 76 patients) were from articles published in the past 10 years. The largest percentage of published cases (69.7% [53 of 76]) involved scurvy, a vitamin C deficiency. The second-largest percentage of published cases (17.1% [13 of 76]) involved eye disorders secondary to vitamin A deficiency. Other primary nutrient deficiencies reported were thiamin, vitamin B-12, and vitamin D. In 62.9% (22 of 35) of the patients for which a body mass index or a weight percentile for age was provided, the patient was within normal weight parameters, per Centers for Disease Control weight status categories.
    Based on the 63 articles extracted for this systematic review, nutritional deficiency diseases related to inadequate intakes of vitamin A, thiamin, vitamin B-12, vitamin C, and vitamin D were found in individuals with autism and the broad autism phenotype who had severe self-imposed dietary restrictions. When weight information was provided, most of the youth in these cases were not reported to be underweight. Individuals of any weight who present with symptoms of avoidant/restrictive food intake disorder can benefit from early and frequent screening for adequacy of micronutrient intake, regardless of whether they have a clinical diagnosis of autism.
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  • 文章类型: Journal Article
    Although less pronounced, social, cognitive, and personality characteristics associated with autism spectrum disorders (ASD) may be present in people who do not meet ASD diagnostic criteria, especially in first-degree relatives of individuals with ASD. Research on these characteristics, referred to as broader autism phenotype (BAP), provides valuable data on potential expressions of autism-specific deficits in the context of family relations. This paper offers a review of research on BAP in siblings of individuals with ASD, focusing on reports regarding social, communication, and cognitive deficits, published from 1993 to 2014. The studies are divided into two groups based on participants\' age: papers on preschool and older siblings of individuals with ASD; and publications on infants at risk for ASD. On the basis of this review, suggestions are offered for further research and its significance for our understanding of the genetic determinants of autism.
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