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Autism spectrum disorder(ASD)

MedGen UID:
307153
Concept ID:
C1510586
Mental or Behavioral Dysfunction
Synonym: Autism spectrum disorders
 
Genes (locations): PTCHD1 (Xp22.11); RPL10 (Xq28); SHANK2 (11q13.3-13.4)
Related genes: NLGN4X, TBR1, SNRPN, MECP2
 
Monarch Initiative: MONDO:0005258
OMIM®: 209850
Orphanet: ORPHA106

Definition

Autism spectrum disorder (ASD) is a condition that appears very early in childhood development, varies in severity, and is characterized by impaired social skills, communication problems, and repetitive actions. These difficulties can interfere with affected individuals' ability to function in social, academic, and employment settings. People with ASD also have an increased risk of psychiatric problems such as anxiety, depression, obsessive-compulsive disorder, and eating disorders.

From as early as 1 to 2 years of age, people with ASD have an impaired ability to interact with other people; they are often more comfortable dealing with objects. Affected individuals have difficulty understanding and using non-verbal social cues such as eye contact, facial expressions, gestures, and body language. Inability to recognize and use these cues makes it hard for affected individuals to understand the feelings of others or communicate their own feelings appropriately. Signs of ASD, such as reduced eye contact and social interaction, can sometimes be detected before age 2. However, the condition is usually diagnosed between ages 2 and 4, when more advanced communication and social skills, such as learning to play with others, typically begin to develop.

Repetitive actions in ASD can include simple actions such as rocking, hand-flapping, or repetition of words or noises (echolalia). Affected individuals often dwell on or repeatedly express particular thoughts; this trait is called perseveration. People with ASD tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as loud noises or bright lights.

While social and communication difficulties and unusual actions define ASD, affected individuals can have a wide range of intellectual abilities and language skills. A majority of people with ASD have mild to moderate intellectual disability, while others have average to above-average intelligence. Some have particular cognitive abilities that greatly surpass their overall level of functioning, often in areas such as music, mathematics, or memory.

Some people with ASD do not speak at all, while others use language fluently. However, fluent speakers with ASD often have problems associated with verbal communication. They might speak in a monotone voice, have unusual vocal mannerisms, or choose unusual topics of conversation.

Several diagnoses that used to be classified as separate conditions are now grouped together under the diagnosis of ASD. For example, autistic disorder was a term that was used when affected individuals had limited or absent verbal communication, often in combination with intellectual disability. By contrast, Asperger syndrome was a diagnosis formerly applied to affected individuals of average or above-average intelligence who were not delayed in their language development. The broader diagnosis of ASD was established because many affected individuals fall outside of the strict definitions of the narrower diagnoses, and their intellectual and communication abilities may change over time. However, some individuals who were previously diagnosed with one of the subtypes now do not meet all the criteria of the new umbrella diagnosis. [from MedlinePlus Genetics]

Term Hierarchy

Professional guidelines

PubMed

Styles M, Alsharshani D, Samara M, Alsharshani M, Khattab A, Qoronfleh MW, Al-Dewik NI
Front Biosci (Landmark Ed) 2020 Jun 1;25(9):1682-1717. doi: 10.2741/4873. PMID: 32472753
Hyman SL, Levy SE, Myers SM; COUNCIL ON CHILDREN WITH DISABILITIES, SECTION ON DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
Pediatrics 2020 Jan;145(1) Epub 2019 Dec 16 doi: 10.1542/peds.2019-3447. PMID: 31843864
Sanchack KE, Thomas CA
Am Fam Physician 2016 Dec 15;94(12):972-979. PMID: 28075089

Curated

UK NICE Guideline CG170, Autism spectrum disorder in under 19s: support and management, 2021

UK NICE Guideline CG142, Autism spectrum disorder in adults: diagnosis and management, 2021

Recent clinical studies

Etiology

Kwon CS, Wirrell EC, Jetté N
Neurol Clin 2022 Nov;40(4):831-847. Epub 2022 Sep 28 doi: 10.1016/j.ncl.2022.03.011. PMID: 36270694
Salari N, Rasoulpoor S, Rasoulpoor S, Shohaimi S, Jafarpour S, Abdoli N, Khaledi-Paveh B, Mohammadi M
Ital J Pediatr 2022 Jul 8;48(1):112. doi: 10.1186/s13052-022-01310-w. PMID: 35804408Free PMC Article
Genovese A, Butler MG
Int J Mol Sci 2020 Jul 2;21(13) doi: 10.3390/ijms21134726. PMID: 32630718Free PMC Article
Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J
Lancet 2018 Aug 11;392(10146):508-520. Epub 2018 Aug 2 doi: 10.1016/S0140-6736(18)31129-2. PMID: 30078460Free PMC Article
Ramaswami G, Geschwind DH
Handb Clin Neurol 2018;147:321-329. doi: 10.1016/B978-0-444-63233-3.00021-X. PMID: 29325621

Diagnosis

Ochoa-Lubinoff C, Makol BA, Dillon EF
Neurol Clin 2023 May;41(2):381-397. Epub 2023 Feb 19 doi: 10.1016/j.ncl.2022.10.006. PMID: 37030965
Kwon CS, Wirrell EC, Jetté N
Neurol Clin 2022 Nov;40(4):831-847. Epub 2022 Sep 28 doi: 10.1016/j.ncl.2022.03.011. PMID: 36270694
Braconnier ML, Siper PM
Curr Psychiatry Rep 2021 Jul 30;23(10):63. doi: 10.1007/s11920-021-01277-1. PMID: 34331144Free PMC Article
Genovese A, Butler MG
Int J Mol Sci 2020 Jul 2;21(13) doi: 10.3390/ijms21134726. PMID: 32630718Free PMC Article
Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J
Lancet 2018 Aug 11;392(10146):508-520. Epub 2018 Aug 2 doi: 10.1016/S0140-6736(18)31129-2. PMID: 30078460Free PMC Article

Therapy

Baribeau D, Vorstman J, Anagnostou E
Curr Opin Psychiatry 2022 Mar 1;35(2):101-110. doi: 10.1097/YCO.0000000000000775. PMID: 35044968
Wood JJ, Kendall PC, Wood KS, Kerns CM, Seltzer M, Small BJ, Lewin AB, Storch EA
JAMA Psychiatry 2020 May 1;77(5):474-483. doi: 10.1001/jamapsychiatry.2019.4160. PMID: 31755906Free PMC Article
Adams JB, Audhya T, Geis E, Gehn E, Fimbres V, Pollard EL, Mitchell J, Ingram J, Hellmers R, Laake D, Matthews JS, Li K, Naviaux JC, Naviaux RK, Adams RL, Coleman DM, Quig DW
Nutrients 2018 Mar 17;10(3) doi: 10.3390/nu10030369. PMID: 29562612Free PMC Article
Kang DW, Adams JB, Gregory AC, Borody T, Chittick L, Fasano A, Khoruts A, Geis E, Maldonado J, McDonough-Means S, Pollard EL, Roux S, Sadowsky MJ, Lipson KS, Sullivan MB, Caporaso JG, Krajmalnik-Brown R
Microbiome 2017 Jan 23;5(1):10. doi: 10.1186/s40168-016-0225-7. PMID: 28122648Free PMC Article
Geretsegger M, Elefant C, Mössler KA, Gold C
Cochrane Database Syst Rev 2014 Jun 17;2014(6):CD004381. doi: 10.1002/14651858.CD004381.pub3. PMID: 24936966Free PMC Article

Prognosis

Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S
JAMA Psychiatry 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. PMID: 32374377Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bölte S
Br J Psychiatry 2016 Mar;208(3):232-8. Epub 2015 Nov 5 doi: 10.1192/bjp.bp.114.160192. PMID: 26541693
Baxter AJ, Brugha TS, Erskine HE, Scheurer RW, Vos T, Scott JG
Psychol Med 2015 Feb;45(3):601-13. Epub 2014 Aug 11 doi: 10.1017/S003329171400172X. PMID: 25108395
Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, Vestergaard M
JAMA 2013 Apr 24;309(16):1696-703. doi: 10.1001/jama.2013.2270. PMID: 23613074Free PMC Article

Clinical prediction guides

Marteleto MRF, Perissinoto J
Sao Paulo Med J 2024;142(5):e2023184. Epub 2024 Apr 22 doi: 10.1590/1516-3180.2023.0184.R1.16022024. PMID: 38655981Free PMC Article
Eig KB, Brandkvist M, Lydersen S, Høyland AL
Tidsskr Nor Laegeforen 2022 Mar 22;142(5) doi: 10.4045/tidsskr.21.0673. PMID: 35324132
Johnson M, Åsberg Johnels J, Östlund S, Cedergren K, Omanovic Z, Hjalmarsson K, Jakobsson K, Högstedt J, Billstedt E
J Psychiatr Res 2021 Oct;142:204-209. Epub 2021 Aug 2 doi: 10.1016/j.jpsychires.2021.07.055. PMID: 34375772
Au AH, Shum KK, Cheng Y, Tse HM, Wong RM, Li J, Au TK
Autism 2021 Feb;25(2):516-528. Epub 2020 Nov 5 doi: 10.1177/1362361320967529. PMID: 33153314Free PMC Article
Arthur T, Vine S, Brosnan M, Buckingham G
Brain 2020 Oct 1;143(10):3151-3163. doi: 10.1093/brain/awaa243. PMID: 32974646

Recent systematic reviews

Salari N, Rasoulpoor S, Rasoulpoor S, Shohaimi S, Jafarpour S, Abdoli N, Khaledi-Paveh B, Mohammadi M
Ital J Pediatr 2022 Jul 8;48(1):112. doi: 10.1186/s13052-022-01310-w. PMID: 35804408Free PMC Article
Jutla A, Foss-Feig J, Veenstra-VanderWeele J
Autism Res 2022 Mar;15(3):384-412. Epub 2021 Dec 29 doi: 10.1002/aur.2659. PMID: 34967130Free PMC Article
Silva EAD Junior, Medeiros WMB, Torro N, Sousa JMM, Almeida IBCM, Costa FBD, Pontes KM, Nunes ELG, Rosa MDD, Albuquerque KLGD
Trends Psychiatry Psychother 2022 Jun 13;44:e20200149. doi: 10.47626/2237-6089-2020-0149. PMID: 34043900Free PMC Article
Boltri M, Sapuppo W
Psychiatry Res 2021 Dec;306:114271. Epub 2021 Nov 10 doi: 10.1016/j.psychres.2021.114271. PMID: 34798485
Loomes R, Hull L, Mandy WPL
J Am Acad Child Adolesc Psychiatry 2017 Jun;56(6):466-474. Epub 2017 Apr 5 doi: 10.1016/j.jaac.2017.03.013. PMID: 28545751

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline CG170, Autism spectrum disorder in under 19s: support and management, 2021
    • NICE, 2021
      UK NICE Guideline CG142, Autism spectrum disorder in adults: diagnosis and management, 2021

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