Evidence map›Paper›PMID 28287497›Full record

ReviewInternational journal of molecular sciences2017

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.

Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.8field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 32 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. Natural IgG Anti-F (ab')Biomedicines · 2023
    Article
  7. Article
  8. Perceptions of Autism Spectrum Disorder (ASD) Etiology among Parents of Children with ASD.International journal of environmental research and public health · 2021
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Epilepsy in Children with Autistic Spectrum Disorder.Children (Basel, Switzerland) · 2019
    Article
  16. Article
  17. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 5 institutions in 2 countries.

Cyrille RobertPôle Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (PHUPEA), University of Rennes 1 and Centre Hospitalier Guillaume Régnier, 35200 Rennes, France. robertcyrille@live.fr.
Laurent PasquierService de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. laurent.pasquier@chu-rennes.fr.
David CohenHospital-University Department of Child and Adolescent Psychiatry, Pitié-Salpétrière Hospital, Paris 6 University, 75013 Paris, France. david.cohen@psl.aphp.fr.
Mélanie FradinService de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. Melanie.FRADIN@chu-rennes.fr.
Roberto CanitanoDivision of Child and Adolescent Neuropsychiatry, University Hospital of Siena, 53100 Siena, Italy. r.canitano@ao-siena.toscana.it.
Léna DamajService de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. Lena.DAMAJ@chu-rennes.fr.
Sylvie OdentService de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. Sylvie.Odent@chu-rennes.fr.
Sylvie TordjmanPôle Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (PHUPEA), University of Rennes 1 and Centre Hospitalier Guillaume Régnier, 35200 Rennes, France. s.tordjman@yahoo.fr.
Centre Hospitalier Universitaire de Rennes · FRCentre Hospitalier Guillaume Régnier · FRSorbonne Université · FRUniversité Paris Cité · FRUniversity of Siena · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. The first step is a clinical investigation involving: (i) a child psychiatric and psychological evaluation confirming autism diagnosis from different observational sources and assessing autism severity; (ii) a neuropediatric evaluation examining neurological symptoms and developmental milestones; and (iii) a genetic evaluation searching for dysmorphic features and malformations. The second step involves laboratory and if necessary neuroimaging and EEG studies oriented by clinical results based on clinical genetic and neuropediatric examinations. The identification of genetic disorders associated with ASD has practical implications for diagnostic strategies, early detection or prevention of co-morbidity, specific treatment and follow up, and genetic counseling.

Indexed as

Autism Spectrum DisorderGenetic Diseases, InbornGenetic Predisposition to DiseaseHumansautismchild psychiatric and psychological assessmentclinical geneticsgenetic disordershierarchical diagnostic strategyneuropediatric evaluation

Identifiers

PMID28287497
PMCPMC5372633
OpenAlexW2597338110

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.