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Complex neurodevelopmental disorder

MedGen UID:
1800189
Concept ID:
C5568766
Mental or Behavioral Dysfunction
Synonyms: complex neurodevelopmental disorder; Non-specific syndromic intellectual disability
SNOMED CT: Complex neurodevelopmental disorder (1187038009); Non-specific syndromic intellectual disability (1187038009)
 
Monarch Initiative: MONDO:0100038

Definition

A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems. [from SNOMEDCT_US]

Professional guidelines

PubMed

Dargenio VN, Dargenio C, Castellaneta S, De Giacomo A, Laguardia M, Schettini F, Francavilla R, Cristofori F
Nutrients 2023 Mar 27;15(7) doi: 10.3390/nu15071620. PMID: 37049461Free PMC Article
Cammarata-Scalisi F, Callea M, Martinelli D, Willoughby CE, Tadich AC, Araya Castillo M, Lacruz-Rengel MA, Medina M, Grimaldi P, Bertini E, Nevado J
Genes (Basel) 2022 Mar 12;13(3) doi: 10.3390/genes13030504. PMID: 35328058Free PMC Article
Brian J, Doyle-Thomas K, Baribeau D, Anagnostou E
Discov Med 2016 Aug;22(119):47-54. PMID: 27585230

Recent clinical studies

Etiology

Jiang CC, Lin LS, Long S, Ke XY, Fukunaga K, Lu YM, Han F
Signal Transduct Target Ther 2022 Jul 11;7(1):229. doi: 10.1038/s41392-022-01081-0. PMID: 35817793Free PMC Article
Deb S, Phukan BC, Dutta A, Paul R, Bhattacharya P, Manivasagam T, Thenmozhi AJ, Babu CS, Essa MM, Borah A
Adv Neurobiol 2020;24:601-614. doi: 10.1007/978-3-030-30402-7_22. PMID: 32006376
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF
Biol Psychiatry 2019 Feb 15;85(4):287-297. Epub 2018 Mar 15 doi: 10.1016/j.biopsych.2018.02.1173. PMID: 29724491Free PMC Article
Marchezan J, Winkler Dos Santos EGA, Deckmann I, Riesgo RDS
Neuroimmunomodulation 2018;25(5-6):300-319. Epub 2018 Sep 5 doi: 10.1159/000492225. PMID: 30184549
Coghill D, Banaschewski T
Expert Rev Neurother 2009 Oct;9(10):1547-65. doi: 10.1586/ern.09.78. PMID: 19831843

Diagnosis

Kilpatrick S, Irwin C, Singh KK
Transl Psychiatry 2023 Jun 21;13(1):217. doi: 10.1038/s41398-023-02510-6. PMID: 37344450Free PMC Article
Jiang CC, Lin LS, Long S, Ke XY, Fukunaga K, Lu YM, Han F
Signal Transduct Target Ther 2022 Jul 11;7(1):229. doi: 10.1038/s41392-022-01081-0. PMID: 35817793Free PMC Article
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S
Neurology 2016 Mar 8;86(10):954-62. Epub 2016 Feb 10 doi: 10.1212/WNL.0000000000002457. PMID: 26865513
Belger A, Carpenter KL, Yucel GH, Cleary KM, Donkers FC
Neurotox Res 2011 Oct;20(3):201-14. Epub 2011 Jan 7 doi: 10.1007/s12640-010-9234-7. PMID: 21213096Free PMC Article
Bertoglio K, Hendren RL
Psychiatr Clin North Am 2009 Mar;32(1):1-14. doi: 10.1016/j.psc.2008.10.004. PMID: 19248913

Therapy

Dargenio VN, Dargenio C, Castellaneta S, De Giacomo A, Laguardia M, Schettini F, Francavilla R, Cristofori F
Nutrients 2023 Mar 27;15(7) doi: 10.3390/nu15071620. PMID: 37049461Free PMC Article
Deb S, Phukan BC, Dutta A, Paul R, Bhattacharya P, Manivasagam T, Thenmozhi AJ, Babu CS, Essa MM, Borah A
Adv Neurobiol 2020;24:601-614. doi: 10.1007/978-3-030-30402-7_22. PMID: 32006376
Marchezan J, Winkler Dos Santos EGA, Deckmann I, Riesgo RDS
Neuroimmunomodulation 2018;25(5-6):300-319. Epub 2018 Sep 5 doi: 10.1159/000492225. PMID: 30184549
Brian J, Doyle-Thomas K, Baribeau D, Anagnostou E
Discov Med 2016 Aug;22(119):47-54. PMID: 27585230
Flashner BM, Russo ME, Boileau JE, Leong DW, Gallicano GI
Neuromolecular Med 2013 Jun;15(2):339-50. Epub 2013 Mar 7 doi: 10.1007/s12017-013-8222-5. PMID: 23468062

Prognosis

Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E
Medicina (Kaunas) 2023 Jun 29;59(7) doi: 10.3390/medicina59071225. PMID: 37512036Free PMC Article
Bonaventura E, Purpura G, Pasquariello R, Da Prato S, Di Lieto MC, Barsotti J, Paolicelli PB, Cioni G, Tinelli F
Appl Neuropsychol Child 2022 Oct-Dec;11(4):915-920. Epub 2021 Jun 8 doi: 10.1080/21622965.2021.1935256. PMID: 34100324
Anitha A, Thanseem I
Adv Exp Med Biol 2015;888:71-83. doi: 10.1007/978-3-319-22671-2_5. PMID: 26663179
Bertoglio K, Hendren RL
Psychiatr Clin North Am 2009 Mar;32(1):1-14. doi: 10.1016/j.psc.2008.10.004. PMID: 19248913
Barbaresi WJ, Katusic SK, Voigt RG
Arch Pediatr Adolesc Med 2006 Nov;160(11):1167-75. doi: 10.1001/archpedi.160.11.1167. PMID: 17088521

Clinical prediction guides

Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E
Medicina (Kaunas) 2023 Jun 29;59(7) doi: 10.3390/medicina59071225. PMID: 37512036Free PMC Article
Nabetani M, Mukai T, Taguchi A
Cell Transplant 2023 Jan-Dec;32:9636897231163217. doi: 10.1177/09636897231163217. PMID: 36999673Free PMC Article
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D; Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS); EMTICS collaborative group, Dietrich A; TS-EUROTRAIN Network, Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P
Transl Psychiatry 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. PMID: 36823209Free PMC Article
Anitha A, Thanseem I
Adv Exp Med Biol 2015;888:71-83. doi: 10.1007/978-3-319-22671-2_5. PMID: 26663179
Shastry BS
Int J Mol Med 2002 Mar;9(3):207-12. PMID: 11836624

Recent systematic reviews

Aman LCS, Lester SD, Holland AJ, Fletcher PC
Orphanet J Rare Dis 2024 Feb 15;19(1):69. doi: 10.1186/s13023-024-03026-y. PMID: 38360662Free PMC Article
Main PA, Angley MT, Thomas P, O'Doherty CE, Fenech M
Am J Clin Nutr 2010 Jun;91(6):1598-620. Epub 2010 Apr 21 doi: 10.3945/ajcn.2009.29002. PMID: 20410097

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