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Sensory seeking

MedGen UID:
1814422
Concept ID:
C5676859
Mental or Behavioral Dysfunction
HPO: HP:4000079

Definition

Unusual interest in sensory aspects of the environment. [from HPO]

Conditions with this feature

Marbach-Schaaf neurodevelopmental syndrome
MedGen UID:
1794260
Concept ID:
C5562050
Disease or Syndrome
Marbach-Schaaf neurodevelopmental syndrom (MASNS) is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia. More variable features include high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features (summary by Marbach et al., 2021).

Professional guidelines

PubMed

Walinga M, Jesse S, Alhambra N; European Phelan-McDermid syndrome consortium, Van Buggenhout G
Eur J Med Genet 2023 May;66(5):104726. Epub 2023 Feb 14 doi: 10.1016/j.ejmg.2023.104726. PMID: 36796507

Recent clinical studies

Etiology

van den Boogert F, Klein K, Spaan P, Sizoo B, Bouman YHA, Hoogendijk WJG, Roza SJ
J Psychiatr Res 2022 Jul;151:173-180. Epub 2022 Apr 21 doi: 10.1016/j.jpsychires.2022.04.020. PMID: 35489177
Feldman JI, Raj S, Bowman SM, Santapuram P, Golden AJ, Daly C, Dunham K, Suzman E, Augustine AE, Garla V, Muhumuza A, Cascio CJ, Williams KL, Kirby AV, Keceli-Kaysili B, Woynaroski TG
J Speech Lang Hear Res 2021 Jun 4;64(6):1964-1976. Epub 2021 May 18 doi: 10.1044/2021_JSLHR-20-00196. PMID: 34003699Free PMC Article
Coulter KL, Barton ML, Robins DL, Stone WL, Fein DA
Autism 2021 Aug;25(6):1653-1665. Epub 2021 Mar 27 doi: 10.1177/13623613211000160. PMID: 33779335Free PMC Article
Buyuktaskin D, Iseri E, Guney E, Gunendi Z, Cengiz B
Autism Res 2021 Apr;14(4):656-667. Epub 2021 Feb 1 doi: 10.1002/aur.2479. PMID: 33522138
MacLennan K, Roach L, Tavassoli T
Autism Res 2020 May;13(5):785-795. Epub 2020 Jan 7 doi: 10.1002/aur.2259. PMID: 31909874

Diagnosis

Walinga M, Jesse S, Alhambra N; European Phelan-McDermid syndrome consortium, Van Buggenhout G
Eur J Med Genet 2023 May;66(5):104726. Epub 2023 Feb 14 doi: 10.1016/j.ejmg.2023.104726. PMID: 36796507
van den Boogert F, Klein K, Spaan P, Sizoo B, Bouman YHA, Hoogendijk WJG, Roza SJ
J Psychiatr Res 2022 Jul;151:173-180. Epub 2022 Apr 21 doi: 10.1016/j.jpsychires.2022.04.020. PMID: 35489177
Zetler NK, Cermak SA, Engel-Yeger B, Baranek G, Gal E
Am J Occup Ther 2022 May 1;76(3) doi: 10.5014/ajot.2022.048082. PMID: 35471501
Coulter KL, Barton ML, Robins DL, Stone WL, Fein DA
Autism 2021 Aug;25(6):1653-1665. Epub 2021 Mar 27 doi: 10.1177/13623613211000160. PMID: 33779335Free PMC Article
Bass MM, Duchowny CA, Llabre MM
J Autism Dev Disord 2009 Sep;39(9):1261-7. Epub 2009 Apr 7 doi: 10.1007/s10803-009-0734-3. PMID: 19350376

Therapy

Nielsen AN, la Cour K, Brandt Å
BMC Pediatr 2022 Jun 2;22(1):325. doi: 10.1186/s12887-022-03380-5. PMID: 35655147Free PMC Article
Siper PM, Layton C, Levy T, Lurie S, Benrey N, Zweifach J, Rowe M, Tang L, Guillory S, Halpern D, Giserman-Kiss I, Del Pilar Trelles M, Foss-Feig JH, De Rubeis S, Tavassoli T, Buxbaum JD, Kolevzon A
Genes (Basel) 2021 Feb 27;12(3) doi: 10.3390/genes12030351. PMID: 33673501Free PMC Article
Piccardi ES, Johnson MH, Gliga T
Infancy 2020 Sep;25(5):677-698. Epub 2020 Aug 3 doi: 10.1111/infa.12356. PMID: 32748567Free PMC Article
Gándara-Gafo B, Santos-Del Riego S, Muñiz J
Am J Occup Ther 2019 Sep/Oct;73(5):7305205040p1-7305205040p8. doi: 10.5014/ajot.2019.028712. PMID: 31484028
Bass MM, Duchowny CA, Llabre MM
J Autism Dev Disord 2009 Sep;39(9):1261-7. Epub 2009 Apr 7 doi: 10.1007/s10803-009-0734-3. PMID: 19350376

Prognosis

van den Boogert F, Klein K, Spaan P, Sizoo B, Bouman YHA, Hoogendijk WJG, Roza SJ
J Psychiatr Res 2022 Jul;151:173-180. Epub 2022 Apr 21 doi: 10.1016/j.jpsychires.2022.04.020. PMID: 35489177
Zetler NK, Cermak SA, Engel-Yeger B, Baranek G, Gal E
Am J Occup Ther 2022 May 1;76(3) doi: 10.5014/ajot.2022.048082. PMID: 35471501
Keating J, Bramham J, Downes M
Res Dev Disabil 2021 May;112:103904. Epub 2021 Feb 24 doi: 10.1016/j.ridd.2021.103904. PMID: 33639605
Damiano-Goodwin CR, Woynaroski TG, Simon DM, Ibañez LV, Murias M, Kirby A, Newsom CR, Wallace MT, Stone WL, Cascio CJ
Dev Cogn Neurosci 2018 Jan;29:41-53. Epub 2017 Aug 14 doi: 10.1016/j.dcn.2017.08.005. PMID: 28889988Free PMC Article
Boyd BA, Baranek GT, Sideris J, Poe MD, Watson LR, Patten E, Miller H
Autism Res 2010 Apr;3(2):78-87. doi: 10.1002/aur.124. PMID: 20437603Free PMC Article

Clinical prediction guides

Walinga M, Jesse S, Alhambra N; European Phelan-McDermid syndrome consortium, Van Buggenhout G
Eur J Med Genet 2023 May;66(5):104726. Epub 2023 Feb 14 doi: 10.1016/j.ejmg.2023.104726. PMID: 36796507
Zetler NK, Cermak SA, Engel-Yeger B, Baranek G, Gal E
Am J Occup Ther 2022 May 1;76(3) doi: 10.5014/ajot.2022.048082. PMID: 35471501
Buyuktaskin D, Iseri E, Guney E, Gunendi Z, Cengiz B
Autism Res 2021 Apr;14(4):656-667. Epub 2021 Feb 1 doi: 10.1002/aur.2479. PMID: 33522138
MacLennan K, Roach L, Tavassoli T
Autism Res 2020 May;13(5):785-795. Epub 2020 Jan 7 doi: 10.1002/aur.2259. PMID: 31909874
Parham LD, Roush S, Downing DT, Michael PG, McFarlane WR
Early Interv Psychiatry 2019 Apr;13(2):264-271. Epub 2017 Aug 25 doi: 10.1111/eip.12475. PMID: 28840977

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