Serum amino acid spectrum in children with autism spectrum disorder (ASD)

Skalny, Anatoly V.; Skalny, Andrey A.; Korobeinikova, Tatiana V.; Ajsuvakova, Olga P.; Нотова, С. В.; Burtseva, T. I.; Skalnaya, Margarita G.; Tinkov, Alexey A.

doi:10.1016/j.rasd.2020.101605

Cited by 8 publications

(5 citation statements)

References 40 publications

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“…Moreover, connective tissue disorders are also closely associated with other neurodevelopmental disorders ( 26 ). These data also corroborate our earlier findings on increased Hypro levels in autism spectrum disorder ( 27 ) and cerebral palsy ( 28 ). In addition, in ADHD subjects, Pro levels were found to be reduced with a decreased Pro/Hypro ratio, and levels were found to be inversely associated with S100B and positively related to IL-10 levels ( 29 ), indicative of the potential contribution of dysregulated Pro metabolism in this neurodevelopmental disorder.…”

Section: Discussionsupporting

confidence: 92%

Alterations in serum amino acid profiles in children with attention deficit/hyperactivity disorder

et al. 2021

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The objective of the present study was to evaluate the circulating serum amino acid levels in children with attention deficit/hyperactivity disorder (ADHD). A total of 71 children with untreated ADHD and 31 neurotypical controls aged 7-14 years old were examined. Serum amino acid levels were evaluated using high-performance liquid chromatography (HPLC) with UV-detection. Laboratory quality control was performed with reference materials of human plasma amino acid levels. The obtained data demonstrated that children with ADHD were characterized by 29, 10 and 20% lower serum histidine (His), glutamine (Gln) and proline (Pro) levels compared with neurotypical children, respectively. In contrast, circulating aspartate (Asp), glutamate (Glu) and hydroxyproline (Hypro) levels exceeded the respective control values by 7, 7 and 42%. Correspondingly, the Gln-to-Glu and Pro-to-Hypro ratios were 28% and 49%, respectively, lower in ADHD cases compared with the controls. Total Gln/Glu levels were also significantly lower in ADHD patients. No significant group differences were observed between the groups in the other amino acids analyzed, including phenylalanine. Multiple linear regression analysis revealed significant associations between circulating serum Gln, lysine (Lys) (both negative) and Glu (positive) levels with total ADHD Rating Scale-IV scores. The observed alterations in Pro/Hypro and Gln/Glu levels and ratios are likely associated with the coexisting connective tissue pathology and alterations in glutamatergic neurotransmission in ADHD, respectively. Altered circulating levels of His, Lys and Asp may also be implicated in ADHD pathogenesis. However, further in vivo and in vitro studies are required in order to investigate the detailed mechanisms linking amino acid metabolism with ADHD pathogenesis.

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Section: Discussionsupporting

confidence: 92%

Alterations in serum amino acid profiles in children with attention deficit/hyperactivity disorder

et al. 2021

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“…Neurodevelopment disorders (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) Anorexia nervosa (12,(23)(24)(25)(26)(27)(28)(29)(30) Addiction (33,34) Anxiety disorders (35)(36)(37)(38)(39)(40)(41)(42)(43) Mood disorders (17,37,(45)(46)(47)(48)(49)(50) Personality disorder (42,49,64)…”

Section: Disease Referencesmentioning

confidence: 99%

“…Baeza-Velasco et al reported the overrepresentation of ASD in patients with EDS ( 21 ). Regarding the biological interaction between hEDS and ASD, elevation of serum tyrosine and hydroxyproline levels in patients with ASD may provide evidence for a link between them, considering the association between hydroxyproline levels and collagen damage ( 22 ). Although shared clinical features and phenotypes between EDS and ASD are not rare, we need to specify the possible common causative genetic factors for both disorders to arrive at a conclusion.…”

Section: Neurodevelopment Disorders and Edsmentioning

confidence: 99%

Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review

2022

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Ehlers-Danlos syndrome (EDS) comprises a series of rare hereditary connective tissue diseases characterized by joint hypermobility, joint dislocation, and hyperextensibility of the skin, as well as cardiovascular involvement. EDS is often associated with chronic widespread physical pain, which can lead to psychological pain. Poor awareness and limited diagnosis of EDS and related symptoms result in decreased self-esteem and confusion regarding physical sensation. Furthermore, EDS imposes substantial psychological burden on patients due to exercise restriction, scars, keloids, and subcutaneous fat accumulation on the extremities, which leads to parental overprotection and bullying experiences from other children at school age. Recent large-scale studies have suggested that patients with EDS have a higher risk of mood disorders than the general population. Other cohort studies indicated high prevalence of anorexia nervosa, addiction, obsessive compulsive disorder, and anxiety disorder were found in patients with EDS. Case reports instead indicated that some psychiatric disorders were secondary symptoms due to physical problems from EDS. Therefore, psychiatrists must be more knowledgeable and proactive about EDS in their practice. We review the previous case reports and literature for patients with EDS, along with our own case of complicated psychiatric problems, which are strongly related to early stressful situations through childhood and adolescence. This is to aid general psychiatrists in the discussion of appropriate medical management in such infrequent, yet challenging conditions.

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“…Recently, Skalny et al (2020) reported metabolic alterations in serum amino acid levels in children with ASD (n = 64). Specifically, they observed an elevation of serum tyrosine and hydroxyproline levels in this population.…”

Section: Autism Spectrum Disordermentioning

confidence: 99%

Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes

Baeza-Velasco

2021

American J of Med Genetics Pt C

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Joint hypermobility (JHM), defined as an increased range of joint motion, is a frequent somatic trait in the general population but also the hallmark of many of the hereditary disorders of connective tissue. Ehlers-Danlos syndromes (EDS) belong to this group of diseases and are characterized by tissue fragility, skin abnormalities, and JHM. Between JHM and EDS, there are the so-called hypermobility spectrum disorders (HSD), which is an umbrella term referring to people with symptomatic JHM who do not fulfill criteria for a syndromic connective tissue disorder such as EDS.Among the variety of clinical correlates of JHM/HSD/EDS, neurodevelopmental atypisms are common although often not screened for and identified in the clinical setting. This article reviews the pertinent literature concerning neurodevelopmental conditions for which there is some evidence of an association with JHM/HSD/EDS. These include hyperactivity and attention deficit, learning, communication, and motor problems including tic disorders such as Tourette syndrome and autism spectrum disorders. Underlying mechanism hypotheses for such interconnections are also reviewed. The coexistence of connective tissue-altered conditions and neurodevelopmental atypisms increases disability in patients from an early age. Thus, increased awareness among clinicians and researchers is necessary to promote assessment, diagnosis, and develop management strategies to meet the specific needs of those affected.

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Serum amino acid spectrum in children with autism spectrum disorder (ASD)

Cited by 8 publications

References 40 publications

Alterations in serum amino acid profiles in children with attention deficit/hyperactivity disorder

Alterations in serum amino acid profiles in children with attention deficit/hyperactivity disorder

Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review

Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes

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