Genetisk udredning ved autismespektrumforstyrrelse

Janni Majgaard Jensen; Ulla Schierup Nielsen; Allan Bayat; Malene Bøgehus Rasmussen; Rikke Steensbjerre Møller; Anne Marie Bisgaard; Trine Bjørg Hammer

Genetisk udredning ved autismespektrumforstyrrelse

Janni Majgaard Jensen^*, Ulla Schierup Nielsen, Allan Bayat, Malene Bøgehus Rasmussen, Rikke Steensbjerre Møller, Anne Marie Bisgaard, Trine Bjørg Hammer

^*Kontaktforfatter

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Abstract

Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

Bidragets oversatte titel	Genetic testing in autism spectrum disorder
Originalsprog	Dansk
Artikelnummer	V04220253
Tidsskrift	Ugeskrift for laeger
Vol/bind	184
ISSN	0041-5782
Status	Udgivet - 22 aug. 2022

Bibliografisk note

Trykt udgave: Ugeskr Laeger. 2023; 185(1):43-46.

Emneord

Autism Spectrum Disorder/diagnosis
Genetic Predisposition to Disease
Genetic Testing
Genomics
Humans

Adgang til dokumentet

Jensen et al. (2022). Genetisk udredning ved autismespektrumforstyrrelseForlagets udgivne version, 509 KBLicens: CC BY-NC-ND 4.0

https://ugeskriftet.dk/videnskab/genetisk-udredning-ved-autismespektrumforstyrrelseLicens: CC BY-NC-ND 4.0

AUB Link

Søg efter materialet i Aalborg Universitetsbiblioteks søgemaskine

Citationsformater

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abstract = "Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.",

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year = "2022",

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T1 - Genetisk udredning ved autismespektrumforstyrrelse

AU - Jensen, Janni Majgaard

AU - Nielsen, Ulla Schierup

AU - Bayat, Allan

AU - Rasmussen, Malene Bøgehus

AU - Møller, Rikke Steensbjerre

AU - Bisgaard, Anne Marie

AU - Hammer, Trine Bjørg

N1 - Trykt udgave: Ugeskr Laeger. 2023; 185(1):43-46.

PY - 2022/8/22

Y1 - 2022/8/22

N2 - Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

AB - Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

KW - Autism Spectrum Disorder/diagnosis

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Genomics

KW - Humans

M3 - Tidsskriftartikel

C2 - 36065862

SN - 0041-5782

VL - 184

JO - Ugeskrift for laeger

JF - Ugeskrift for laeger

M1 - V04220253

ER -

Genetisk udredning ved autismespektrumforstyrrelse

Abstract

Bibliografisk note

Emneord

Adgang til dokumentet

AUB Link

Fingeraftryk

Citationsformater