Biomarkers in autism spectrum disorder: the old and the new

Ruggeri, Barbara; Sarkans, Ugis; Schumann, Günter; Persico, Antonio M.

doi:10.1007/s00213-013-3290-7

Cited by 146 publications

(117 citation statements)

References 179 publications

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“…Given the heterogeneity of ASD and the specific etiopathogenic underpinnings present in each patient, multiple-biomarker panels able to foster earlier diagnoses and to predict clinical prognosis as well as treatment response will be very useful in clinical practice (Walsh et al, 2011). ASD complexity requires sexand age-specific panels, including biomarkers from different biological and physiological domains (Ruggeri et al, 2014). Furthermore, some racial and ethnic groups may require specific biomarker panels, accounting not only for genetic markers conferring ASD vulnerability, but also for differences in gut-derived compounds (Persico & Napolioni, 2012).…”

Section: Discussionmentioning

confidence: 99%

Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

et al. 2014

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The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex-and age-matched controls (p50.05). This increase was limited to ASD children aged 8 years (p50.01), and not older (p ¼ 0.17). Urinary levels of p-cresol and p-cresylsulfate were associated with stereotypic, compulsive/repetitive behaviors (p50.05), although not with overall autism severity. These results confirm the elevation of urinary p-cresol in a sizable set of small autistic children and spur interest into biomarker roles for p-cresol and p-cresylsulfate in autism.

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Section: Discussionmentioning

confidence: 99%

Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

et al. 2014

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“…The complexities that make autism hard to understand, from the diagnostic criteria and clinical heterogeneity to the genetic/ environmental causes that provoke communication and behavioral problems to the innovative therapies to be applied in order to give patients the best quality of life, encourage scientists to look at predictive biomarkers and/or therapeutic targets for the pharmacological management of this disorder [90,91]. It is now clear that eCB system is altered in several neurodegenerative diseases and, very interestingly, that distinct elements of the eCB system in peripheral blood mirror these perturbations, providing novel and noninvasive diagnostic tools for several neuroinflammatory diseases [92,93].…”

Section: Alterations Of the Ecb System In Autismmentioning

confidence: 99%

Endocannabinoid Signaling in Autism

et al. 2015

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Autism spectrum disorder (ASD) is a complex behavioral condition with onset during early childhood and a lifelong course in the vast majority of cases. To date, no behavioral, genetic, brain imaging, or electrophysiological test can specifically validate a clinical diagnosis of ASD. However, these medical procedures are often implemented in order to screen for syndromic forms of the disorder (i.e., autism comorbid with known medical conditions). In the last 25 years a good deal of information has been accumulated on the main components of the Bendocannabinoid (eCB) system^, a rather complex ensemble of lipid signals (Bendocannabinoids^), their target receptors, purported transporters, and metabolic enzymes. It has been clearly documented that eCB signaling plays a key role in many human health and disease conditions of the central nervous system, thus opening the avenue to the therapeutic exploitation of eCB-oriented drugs for the treatment of psychiatric, neurodegenerative, and neuroinflammatory disorders. Here we present a modern view of the eCB system, and alterations of its main components in human patients and animal models relevant to ASD. This review will thus provide a critical perspective necessary to explore the potential exploitation of distinct elements of eCB system as targets of innovative therapeutics against ASD.Key Words Autism spectrum disorder . endocannabinoid system . fragile X syndrome . metabolic regulation . reward system The Endocannabinoid SystemTwenty-five years after the cloning and expression of a complementary DNA that encoded a G protein-coupled receptor, named type-1 cannabinoid (CB 1 ) receptor [1], there is a good deal of information on the main components of the so-called Bendocannabinoid (eCB) system^, as well as on its role in controlling cannabinergic signaling in human health and disease [2][3][4]. Anandamide (AEA) and 2-arachidonoylglycerol (2-AG) are the most active eCBs as yet identified, although this family of bioactive lipids includes other arachidonic acid (AA) derivatives with cannabimimetic properties (i.e., noladin ether, virodhamine, N-arachidonoyldopamine, to name but a few). The classical dogma that eCBs are synthesized and released Bon demand^upon (patho)physiological stimuli has been recently revisited on the basis of unexpected evidence for intracellular reservoirs and transporters of eCBs. These new entities have been shown to drive intracellular trafficking of eCBs, adding a new dimension to the regulation of their biological activity [5]. To date, several metabolic routes have B. Chakrabarti, A. Persico and N. Battista are equal first authors.

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“…The problem has been approached from different perspectives: behavioral, biochemical, neuroanatomical, neurophysiological, immunological, and even hormonal. While some biochemical biomarkers have been clearly identified, research is now focused on the possibility of finding genetic, metabolic and neurological markers [8]. About the neurological markers, some encouraging data is emerging.…”

Section: Introductionmentioning

confidence: 99%

An Abnormal Cerebellar Network in Children with Autistic Spectrum Disorder: A Morphometric Study

Pappaianni

Grecucci²,

Siugzdaite³

2016

Autism Open Access

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Autism is a neurodevelopmental disorder characterized by poor social abilities, communication deficiency and restricted behavioural patterns. Recently, scholars started to consider the possibility of detecting biological markers for better and faster diagnosing autism. This problem has been approached from different perspectives considering biochemical, neurophysiological, and neuroanatomical markers. Following this perspective, our intent was to investigate whether a structural brain signature of autism can be detected in children by using a whole brain morphological analysis. To this aim, we selected 43 male children with autistic spectrum disorder and 46 male controls, matched for age. Structural brain images (T1 image), intelligence scores (Full IQ, Verbal IQ, Performance IQ), and Autism Diagnostic Observation Schedule (ADOS) scores were considered for analyses. Source-Based Morphometry, a multivariate method based on Independent Component Analysis to detect maximally independent cortical networks of gray matter differences was applied to autistic and control brains. Results showed a statistically different network between ASD children and controls, including several cerebellar regions (Inferior Semi-lunar lobule, Tuble, Uvula, Pyramis, Declive, Cerebellar Tonsil) and the Fusiform Gyrus, confirming, but, also expanding previous results. In addition, separate temporal, frontal, and parietal networks were found to be significantly correlated with the Stereotyped Behaviour ADOS scores. These morphologic differences may be particularly useful in paving the way for future objective methods to diagnose autism.

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Biomarkers in autism spectrum disorder: the old and the new

Abstract: Biomarker research has great heuristic potential in targeting autism diagnosis and treatment.

Cited by 146 publications

References 179 publications

Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

Endocannabinoid Signaling in Autism

An Abnormal Cerebellar Network in Children with Autistic Spectrum Disorder: A Morphometric Study

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