arnaud fernandez

Dr. arnaud fernandez

Pediatrician, Child and Adolescent Psychiatrist, Université Côte d'Azur, Nice, France
orcid
Assistant Professor, MD, PhD, Pediatrician, Child and Adoles...

Research Focus & Metrics

Academic Career Length

13Years (2014-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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15 April 2014 in British Journal of Dermatology
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Journal Article
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CCC. Chiaverini
C. Chiaverini
ACA. Charlesworth
A. Charlesworth
AFarnaud fernandez
arnaud fernandez
SBSebastien Barbarot
Sebastien Barbarot
DBD. Bessis
D. Bessis
JLJ.-P. Lacour
J.-P. Lacour

18 December 2019 in Frontiers in Genetics
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Journal Article
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AFarnaud fernandez
arnaud fernandez
MDMalgorzata Marta Drozd
Malgorzata Marta Drozd
STSusanne Thümmler
Susanne Thümmler
EDEmmanuelle Dor
Emmanuelle Dor
MCMaria Capovilla
Maria Capovilla
Barbara BardoniBarbara Bardoni
Barbara Bardoni
Childhood-onset schizophrenia (COS), a very rare and severe chronic psychiatric condition, is defined by an onset of positive symptoms (delusions, hallucinations and disorganized speech or behavior) before the age of 13. COS is associated with other neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder. Copy number variations (CNVs) represent well documented neurodevelopmental disorder risk factors and, recently, de novo single nucleotide variations (SNVs) in genes involved in brain development have also been implicated in the complex genetic architecture of COS. Here, we aim to review the genetic changes (CNVs and SNVs) reported for COS, going from previous studies to the whole genome sequencing era. We carried out a systematic review search in PubMed using the keywords “childhood(early)-onset schizophrenia(psychosis)” and “genetic(s) or gene(s) or genomic(s)” without language and date limitations. The main inclusion criteria are COS (onset before 13 years old) and all changes/variations at the DNA level (CNVs or SNVs). Thirty-six studies out of 205 met the inclusion criteria. Cytogenetic abnormalities (n = 72, including 66 CNVs) were identified in 16 autosomes and 2 sex chromosomes (X, Y), some with a higher frequency and clinical significance than others (e.g., 2p16.3, 3q29, 15q13.3, 22q11.21 deletions; 2p25.3, 3p25.3 and 16p11.2 duplications). Thirty-one single nucleotide mutations in genes principally involved in brain development and/or function have been found in 12 autosomes and one sex chromosome (X). We also describe five SNVs in X-linked genes inherited from a healthy mother, arguing for the X-linked recessive inheritance hypothesis. Moreover, ATP1A3 (19q13.2) is the only gene carrying more than one SNV in more than one patient, making it a strong candidate for COS. Mutations were distributed in various chromosomes illustrating the genetic heterogeneity of COS. More than 90% of CNVs involved in COS are also involved in ASD, supporting the idea that there may be genetic overlap between these disorders. Different mutations associated with COS are probably still unknown, and pathogenesis might also be explained by the association of different genetic variations (two or more CNVs or CNVs and SNVs) as well as association with early acquired brain lesions such as infection, hypoxia, or early childhood trauma.

1 March 2017 in The Lancet
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HHHervé Haas
Hervé Haas
AFarnaud fernandez
arnaud fernandez
JBJean Bréaud
Jean Bréaud
ADAudrey Dupont
Audrey Dupont
ATAntoine Tran
Antoine Tran
Federico SollaFederico Solla
Federico Solla

1 May 2021 in Neuropsychiatrie de l'Enfance et de l'Adolescence
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MGM. Gindt
M. Gindt
AFarnaud fernandez
arnaud fernandez
MBM. Battista
M. Battista
FAF. Askenazy
F. Askenazy

1 May 2018 in Academic Pediatrics
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Journal Article
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Federico SollaFederico Solla
Federico Solla
JCJoseph Carboni
Joseph Carboni
JBJean Bréaud
Jean Bréaud
PBPhilippe Babe
Philippe Babe
GBGilles Brézac
Gilles Brézac
AFarnaud fernandez
arnaud fernandez

20 August 2021 in Frontiers in Psychiatry
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Journal Article
Open access
MGMorgane Gindt
Morgane Gindt
ARAurelien Richez
Aurelien Richez
MBMichèle Battista
Michèle Battista
RFRoxane Fabre
Roxane Fabre
STSusanne Thümmler
Susanne Thümmler
FAFlorence Askenazy
Florence Askenazy
Background: The child posttraumatic stress disorder checklist (CPC) updated to DSM-5 is a questionnaire aimed to assess posttraumatic stress disorder (PTSD) symptoms in children. It is available in both parents and child versions. The back-translation method has been used for the French translation of the CPC. It has not been yet validated in French-speaking populations. The aim of this study was to assess the psychometric properties and the validity of the CPC in a sample of French-speaking schoolchildren and their parents.Methods: The sample was composed by 176 children outpatients implicated in the Nice terrorist attack (14 July 2016) aged 7–17 (mean = 11.68 years, SD = 2.63 months) and 122 parents. Cronbach's alpha was used to test CPC internal consistency. The Spearman-correlation coefficient was performed between the French version of the CPC and the Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime version (K-SADS-PL) to assess the convergent validity. An ROC curve was constructed to verify the validity of the cutoff scores. An evaluation of the sensitivity and specificity of each score and a comparison with the diagnosis of the K-SADS-PL were made. Finally, a principal component analysis with varimax rotation was computed to analyze the structure of the French version of the CPC.Results: Cronbach's alpha coefficient was 0.90 for child version and 0.91 for parent version of the CPC. There was a statistical correlation between the K-SADS-PL for PTSD and the total score of CPC for the child version (r = 0.62; p < 0.001) and for the parent version (r = 0.55; p < 0.001). The sensitivity and specificity of the children version with a threshold of >20 were 73.1 and 84.7%, respectively, using the K-SADS-PL as the diagnostic reference for PTSD. Concerning the parent version, using the same recommended cutoff score, the sensitivity, and specificity were 77 and 80.5%, respectively.Conclusions: The psychometric properties of the French CPC are good. This questionnaire appears to be valid and should be used in French-speaking children.