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      The serotonin- N-acetylserotonin–melatonin pathway as a biomarker for autism spectrum disorders

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          Abstract

          Elevated whole-blood serotonin and decreased plasma melatonin (a circadian synchronizer hormone that derives from serotonin) have been reported independently in patients with autism spectrum disorders (ASDs). Here, we explored, in parallel, serotonin, melatonin and the intermediate N-acetylserotonin (NAS) in a large cohort of patients with ASD and their relatives. We then investigated the clinical correlates of these biochemical parameters. Whole-blood serotonin, platelet NAS and plasma melatonin were assessed in 278 patients with ASD, their 506 first-degree relatives (129 unaffected siblings, 199 mothers and 178 fathers) and 416 sex- and age-matched controls. We confirmed the previously reported hyperserotonemia in ASD (40% (35–46%) of patients), as well as the deficit in melatonin (51% (45–57%)), taking as a threshold the 95th or 5th percentile of the control group, respectively. In addition, this study reveals an increase of NAS (47% (41–54%) of patients) in platelets, pointing to a disruption of the serotonin-NAS–melatonin pathway in ASD. Biochemical impairments were also observed in the first-degree relatives of patients. A score combining impairments of serotonin, NAS and melatonin distinguished between patients and controls with a sensitivity of 80% and a specificity of 85%. In patients the melatonin deficit was only significantly associated with insomnia. Impairments of melatonin synthesis in ASD may be linked with decreased 14-3-3 proteins. Although ASDs are highly heterogeneous, disruption of the serotonin-NAS–melatonin pathway is a very frequent trait in patients and may represent a useful biomarker for a large subgroup of individuals with ASD.

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          Most cited references 72

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          A new method for measuring daytime sleepiness: the Epworth sleepiness scale.

           Murray Johns (1991)
          The development and use of a new scale, the Epworth sleepiness scale (ESS), is described. This is a simple, self-administered questionnaire which is shown to provide a measurement of the subject's general level of daytime sleepiness. One hundred and eighty adults answered the ESS, including 30 normal men and women as controls and 150 patients with a range of sleep disorders. They rated the chances that they would doze off or fall asleep when in eight different situations commonly encountered in daily life. Total ESS scores significantly distinguished normal subjects from patients in various diagnostic groups including obstructive sleep apnea syndrome, narcolepsy and idiopathic hypersomnia. ESS scores were significantly correlated with sleep latency measured during the multiple sleep latency test and during overnight polysomnography. In patients with obstructive sleep apnea syndrome ESS scores were significantly correlated with the respiratory disturbance index and the minimum SaO2 recorded overnight. ESS scores of patients who simply snored did not differ from controls.
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            The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research.

            Despite the prevalence of sleep complaints among psychiatric patients, few questionnaires have been specifically designed to measure sleep quality in clinical populations. The Pittsburgh Sleep Quality Index (PSQI) is a self-rated questionnaire which assesses sleep quality and disturbances over a 1-month time interval. Nineteen individual items generate seven "component" scores: subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, use of sleeping medication, and daytime dysfunction. The sum of scores for these seven components yields one global score. Clinical and clinimetric properties of the PSQI were assessed over an 18-month period with "good" sleepers (healthy subjects, n = 52) and "poor" sleepers (depressed patients, n = 54; sleep-disorder patients, n = 62). Acceptable measures of internal homogeneity, consistency (test-retest reliability), and validity were obtained. A global PSQI score greater than 5 yielded a diagnostic sensitivity of 89.6% and specificity of 86.5% (kappa = 0.75, p less than 0.001) in distinguishing good and poor sleepers. The clinimetric and clinical properties of the PSQI suggest its utility both in psychiatric clinical practice and research activities.
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              The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.

              The Autism Diagnostic Observation Schedule-Generic (ADOS-G) is a semistructured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorders. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language. Psychometric data are presented for 223 children and adults with Autistic Disorder (autism), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or nonspectrum diagnoses. Within each module, diagnostic groups were equivalent on expressive language level. Results indicate substantial interrater and test-retest reliability for individual items, excellent interrater reliability within domains and excellent internal consistency. Comparisons of means indicated consistent differentiation of autism and PDDNOS from nonspectrum individuals, with some, but less consistent, differentiation of autism from PDDNOS. A priori operationalization of DSM-IV/ICD-10 criteria, factor analyses, and ROC curves were used to generate diagnostic algorithms with thresholds set for autism and broader autism spectrum/PDD. Algorithm sensitivities and specificities for autism and PDDNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS.
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                Author and article information

                Journal
                Transl Psychiatry
                Transl Psychiatry
                Translational Psychiatry
                Nature Publishing Group
                2158-3188
                November 2014
                11 November 2014
                1 November 2014
                : 4
                : 11
                : e479
                Affiliations
                [1 ]Service de Biochimie et Biologie Moléculaire, Department of Biochemistry, University Hospital Lariboisière, AP-HP, INSERM U942 , Paris, France
                [2 ]University Paris Descartes, Sorbonne Paris Cité , Paris, France
                [3 ]Human Genetics and Cognitive Functions, CNRS URA 2182 « Genes, Synapses and Cognition », Institut Pasteur , Paris, France
                [4 ]Fondation FondaMental , Créteil, France
                [5 ]Department of Child and Adolescent Psychiatry, Robert-Debré Hospital, AP-HP , Paris, France
                [6 ]University Paris Diderot, Sorbonne Paris Cité , Paris, France
                [7 ]INSERM U955, Psychiatry Genetic , Créteil, France
                [8 ]Department of Psychiatry, University Hospital Henri Mondor, AP-HP, University Paris-Est Créteil , Créteil, France
                [9 ]INSERM, CIC 1430 and Biological Resource Platform, Henri Mondor Hospital, AP-HP , Créteil, France
                [10 ]Gillberg Neuropsychiatry Centre, University of Gothenburg , Goteborg, Sweden
                [11 ]Institute of Child Health, University College London , London, UK
                Author notes
                [* ]Service de Biochimie et Biologie Moléculaire, Department of Biochemistry, University Hospital Lariboisière, AP-HP, INSERM U942, 2 rue Ambroise Paré, 75010 Paris, France. E-mail: jean-marie.launay@ 123456lrb.aphp.fr
                [12]

                Present address: Service des maladies héréditaires du métabolisme, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677 Bron, France.

                [13]

                Present address: Service d'Explorations Fonctionnelles, CHU de Poitiers, 86021 Poitiers, France.

                Article
                tp2014120
                10.1038/tp.2014.120
                4259991
                25386956
                Copyright © 2014 Macmillan Publishers Limited

                This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/

                Categories
                Original Article

                Clinical Psychology & Psychiatry

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