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Autism with high cognitive abilities

MedGen UID:
871340
Concept ID:
C4025832
Mental or Behavioral Dysfunction
HPO: HP:0000753

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autism with high cognitive abilities

Conditions with this feature

Asperger syndrome, susceptibility to, 1
MedGen UID:
325218
Concept ID:
C1837646
Disease or Syndrome
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. Genetic Heterogeneity of Susceptibility to Asperger Syndrome ASPG1 maps to chromosome 3q. Other autosomal loci include ASPG2 (608631) on chromosome 17p, ASPG3 (608781) on 1q21-q22, and ASPG4 (609954) on 3p24-p21.

Professional guidelines

PubMed

de Lima TA, Zuanetti PA, Nunes MEN, Hamad APA
World J Pediatr 2023 Aug;19(8):715-726. Epub 2022 Oct 25 doi: 10.1007/s12519-022-00629-y. PMID: 36282408
Greenslade KJ, Coggins TE
Int J Lang Commun Disord 2022 Jul;57(4):782-795. Epub 2022 Apr 3 doi: 10.1111/1460-6984.12718. PMID: 35373426
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255

Recent clinical studies

Etiology

Ostrolenk A, Courchesne V, Mottron L
Brain Cogn 2023 Dec;173:106099. Epub 2023 Oct 13 doi: 10.1016/j.bandc.2023.106099. PMID: 37839243
de Lima TA, Zuanetti PA, Nunes MEN, Hamad APA
World J Pediatr 2023 Aug;19(8):715-726. Epub 2022 Oct 25 doi: 10.1007/s12519-022-00629-y. PMID: 36282408
Drmic IE, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, Bassett AS, Speevak M, Stavropoulos DJ, Carter MT
Am J Med Genet A 2022 Oct;188(10):2999-3008. Epub 2022 Jul 28 doi: 10.1002/ajmg.a.62916. PMID: 35899837
Yu L, Wang S
Sci China Life Sci 2021 Jun;64(6):861-878. Epub 2021 Jan 22 doi: 10.1007/s11427-020-1863-6. PMID: 33492640
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255

Diagnosis

de Lima TA, Zuanetti PA, Nunes MEN, Hamad APA
World J Pediatr 2023 Aug;19(8):715-726. Epub 2022 Oct 25 doi: 10.1007/s12519-022-00629-y. PMID: 36282408
Mottron L
Handb Clin Neurol 2020;174:127-136. doi: 10.1016/B978-0-444-64148-9.00010-7. PMID: 32977873
des Portes V
Handb Clin Neurol 2020;174:113-126. doi: 10.1016/B978-0-444-64148-9.00009-0. PMID: 32977872
Rynkiewicz A, Janas-Kozik M, Słopień A
Psychiatr Pol 2019 Aug 31;53(4):737-752. doi: 10.12740/PP/OnlineFirst/95098. PMID: 31760407
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255

Therapy

Ratsapbhayakul T, Keeratitanont K, Chonprai C, Auvichayapat N, Suphakunpinyo C, Patjanasoontorn N, Tiamkao S, Tunkamnerdthai O, Punjaruk W, Auvichayapat P
Dev Med Child Neurol 2024 Sep;66(9):1244-1254. Epub 2024 Feb 2 doi: 10.1111/dmcn.15874. PMID: 38308445
Ornoy A, Echefu B, Becker M
Int J Mol Sci 2023 Dec 27;25(1) doi: 10.3390/ijms25010390. PMID: 38203562Free PMC Article
Williams ZJ, Schaaf R, Ausderau KK, Baranek GT, Barrett DJ, Cascio CJ, Dumont RL, Eyoh EE, Failla MD, Feldman JI, Foss-Feig JH, Green HL, Green SA, He JL, Kaplan-Kahn EA, Keçeli-Kaysılı B, MacLennan K, Mailloux Z, Marco EJ, Mash LE, McKernan EP, Molholm S, Mostofsky SH, Puts NAJ, Robertson CE, Russo N, Shea N, Sideris J, Sutcliffe JS, Tavassoli T, Wallace MT, Wodka EL, Woynaroski TG
Mol Autism 2023 Aug 28;14(1):31. doi: 10.1186/s13229-023-00563-4. PMID: 37635263Free PMC Article
Ibrahim K, Soorya LV, Halpern DB, Gorenstein M, Siper PM, Wang AT
Autism Res 2021 Dec;14(12):2495-2511. Epub 2021 Sep 6 doi: 10.1002/aur.2603. PMID: 34486810
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255

Prognosis

Casten LG, Thomas TR, Doobay AF, Foley-Nicpon M, Kramer S, Nickl-Jockschat T, Abel T, Assouline S, Michaelson JJ
Neurobiol Learn Mem 2023 Jan;197:107698. Epub 2022 Nov 28 doi: 10.1016/j.nlm.2022.107698. PMID: 36450307Free PMC Article
LeBeau B, Schabilion K, Assouline SG, Foley Nicpon M, Doobay AF, Mahatmya D
Neurobiol Learn Mem 2022 Oct;194:107671. Epub 2022 Jul 29 doi: 10.1016/j.nlm.2022.107671. PMID: 35908656
Shu C, Green Snyder L, Shen Y, Chung WK; SPARK Consortium
Autism Res 2022 Jan;15(1):156-170. Epub 2021 Oct 11 doi: 10.1002/aur.2622. PMID: 34636158
Scheerer NE, Curcin K, Stojanoski B, Anagnostou E, Nicolson R, Kelley E, Georgiades S, Liu X, Stevenson RA
Mol Autism 2021 Oct 12;12(1):67. doi: 10.1186/s13229-021-00471-5. PMID: 34641960Free PMC Article
Watanabe T, Rees G
Nat Commun 2017 Jul 5;8:16048. doi: 10.1038/ncomms16048. PMID: 28677689Free PMC Article

Clinical prediction guides

LeBeau B, Schabilion K, Assouline SG, Foley Nicpon M, Doobay AF, Mahatmya D
Neurobiol Learn Mem 2022 Oct;194:107671. Epub 2022 Jul 29 doi: 10.1016/j.nlm.2022.107671. PMID: 35908656
Drmic IE, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, Bassett AS, Speevak M, Stavropoulos DJ, Carter MT
Am J Med Genet A 2022 Oct;188(10):2999-3008. Epub 2022 Jul 28 doi: 10.1002/ajmg.a.62916. PMID: 35899837
Semino S, Zanobini M, Usai MC
Appl Neuropsychol Child 2021 Jan;10(1):26-36. Epub 2019 Apr 18 doi: 10.1080/21622965.2019.1594231. PMID: 30998085
Rolf R, Sokolov AN, Rattay TW, Fallgatter AJ, Pavlova MA
Schizophr Res 2020 Apr;218:138-145. Epub 2020 Feb 10 doi: 10.1016/j.schres.2020.01.019. PMID: 32057538
Rynkiewicz A, Janas-Kozik M, Słopień A
Psychiatr Pol 2019 Aug 31;53(4):737-752. doi: 10.12740/PP/OnlineFirst/95098. PMID: 31760407

Recent systematic reviews

Luckhardt C, Boxhoorn S, Schütz M, Fann N, Freitag CM
Prog Brain Res 2021;264:233-257. Epub 2021 Apr 16 doi: 10.1016/bs.pbr.2021.03.002. PMID: 34167658
Koly KN, Martin-Herz SP, Islam MS, Sharmin N, Blencowe H, Naheed A
PLoS One 2021;16(3):e0247432. Epub 2021 Mar 11 doi: 10.1371/journal.pone.0247432. PMID: 33705420Free PMC Article
Casassus M, Poliakoff E, Gowen E, Poole D, Jones LA
Autism Res 2019 Oct;12(10):1440-1462. Epub 2019 Jul 23 doi: 10.1002/aur.2170. PMID: 31336032Free PMC Article
Holwerda A, van der Klink JJ, Groothoff JW, Brouwer S
J Occup Rehabil 2012 Sep;22(3):333-52. doi: 10.1007/s10926-011-9347-8. PMID: 22270229
Millward C, Ferriter M, Calver S, Connell-Jones G
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003498. doi: 10.1002/14651858.CD003498.pub3. PMID: 18425890Free PMC Article

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