On the mechanisms of the occurrence of autism spectrum disorders: a family case report

Tyushkevich, Svetlana; Mamokhina, Uliana; Danilina, Kamilla; Pereverzeva, Darya; Salimova, Ksenia; Gorbachevskaya, N. L.

doi:10.17759/autdd.2020180205

Autism and Developmental Disorders

2020

DOI: 10.17759/autdd.2020180205

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On the mechanisms of the occurrence of autism spectrum disorders: a family case report

Svetlana Tyushkevich

Uliana Mamokhina

Kamilla Danilina³

et al.

Abstract: Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis. However, the mechanisms of the occurrence of these genetic abnormalities remain unclear. This is connected to the particular interest in the description of family cases in which ASD in combination with various genome features are observed. The data of a five-year comprehensive psychological and neuroph… Show more

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Cited by 2 publications

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High-Functioning Autism and its Understanding in Modern Literature

Danilina,

Salimova

2024

Autism and Developmental Disorders

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Objective. Among autism spectrum disorders (ASD), high functional autism (HFA) is not considered a separate nosological entity. However, a number of foreign studies have shown that 10% of people with ASD are diagnosed with HFA. We discuss the characteristics of HFA as well as its differences from other ASD subgroups. The article also summarizes the current state of research on the HFA issue. A clearer understanding of both psychology and neurophysiology of high-functioning autism will help ensure accurate diagnosis, avoiding errors in therapy planning and support. Methods. We reviewed literature sources in the PubMed, MedLine, and Scientific Electronic Library databases. The main search terms were: high-functioning autism, HFA, Asperger’s syndrome, autism spectrum disorders (ASD), diagnosis and speech disorders. Forty-two articles by foreign and domestic specialists were included in the analysis. Results. The developmental profile of individuals with high-functioning autism differs from that of individuals with autism and cognitive or speech impairments. It is characterized by a distinctive style of social interaction and a higher level of speech and cognitive development. A high level of intelligence helps people with HFA master social rules and adapt more effectively. Conclusions. Social impairments in individuals with high-functioning autism are difficult to identify in early childhood, partly due to the lack of developed diagnostic tools. Therefore, there is a need for more careful assessment of children suspected of having high-functioning autism, as well as the development of reliable, sensitive assessment tools for follow-up therapy and support.

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High-Functioning Autism and its Understanding in Modern Literature

Danilina,

Salimova

2024

Autism and Developmental Disorders

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Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia

Dubinski,

Pozza,

Debor

et al. 2023

Jcrpe

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Objective: Patients with congenital adrenal hyperplasia (CAH) require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An important aspect of care is the prevention of metabolic sequelae. In infants, potentially lethal nocturnal hypoglycaemia has been described. In adolescence, visceral obesity, hypertension, hyperinsulinism and insulin resistance are reported. To date, systematic studies of glucose profiles in this age group with CAH are lacking. Methods: This was a monocentric, prospective, observational study to determine the glucose profiles under different treatment regimens in a cohort of young patients with CAH. The continuous glucose monitoring device used was the latest generation FreeStyle Libre 3 ® sensor in blinded mode. Therapeutic and auxological data were obtained. Results: The cohort consisted of 10 children/adolescents with a mean age of 11 years. Three patients exhibited morning fasting hyperglycaemia. Overall, 6 out of 10 patients had unacceptably few total values in the desired range of 70-120 mg/dL. Tissue glucose values above 140-180 mg/dL were found in 5 of 10 patients. The mean value for glycosylated haemoglobin for the cohort was of 5.8%. All pubertal adolescents with reverse circadian regimens had significantly higher glucose levels at night. Two adolescents showed asymptomatic nocturnal hypoglycaemia. Conclusion: Most of the patients exhibited abnormalities in glucose metabolism. Two-thirds had elevated total 24h glucose values outside the age-appropriate reference values. Thus, this aspect may need to be addressed early in life by adjusting the doses, treatment regimen or dietary measures. Consequently, reverse circadian therapy regimens should be critically indicated and closely monitored due to the potential metabolic risk.

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On the mechanisms of the occurrence of autism spectrum disorders: a family case report

Cited by 2 publications

References 20 publications

High-Functioning Autism and its Understanding in Modern Literature

High-Functioning Autism and its Understanding in Modern Literature

Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia

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