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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

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Baizabal-Carvallo JF, Cavanna AE, Jankovic J
Neurosci Biobehav Rev 2024 Apr;159:105609. Epub 2024 Mar 4 doi: 10.1016/j.neubiorev.2024.105609. PMID: 38447821
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

Recent clinical studies

Etiology

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
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
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
Coghill D, Banaschewski T
Expert Rev Neurother 2009 Oct;9(10):1547-65. doi: 10.1586/ern.09.78. PMID: 19831843
Palermo MT
Int J Offender Ther Comp Criminol 2003 Feb;47(1):47-57. doi: 10.1177/0306624X02239274. PMID: 12613431

Diagnosis

Baizabal-Carvallo JF, Cavanna AE, Jankovic J
Neurosci Biobehav Rev 2024 Apr;159:105609. Epub 2024 Mar 4 doi: 10.1016/j.neubiorev.2024.105609. PMID: 38447821
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
Sudarshan S, Gupta N, Kabra M
Indian J Pediatr 2016 Oct;83(10):1133-40. Epub 2016 Mar 3 doi: 10.1007/s12098-015-1989-7. PMID: 26935198
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
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
Veselinović A, Petrović S, Žikić V, Subotić M, Jakovljević V, Jeremić N, Vučić V
Medicina (Kaunas) 2021 Aug 28;57(9) doi: 10.3390/medicina57090893. PMID: 34577816Free PMC Article
Carbone E, Manduca A, Cacchione C, Vicari S, Trezza V
Neurosci Biobehav Rev 2021 Feb;121:128-143. Epub 2020 Dec 21 doi: 10.1016/j.neubiorev.2020.12.009. PMID: 33358985
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

Prognosis

Jiang R, Huang W, Qiu X, Chen J, Luo R, Zeng R, Tong S, Lyu Y, Sun P, Lian Q, Leung FW, Liu Y, Sha W, Chen H
Brief Bioinform 2024 May 23;25(4) doi: 10.1093/bib/bbae353. PMID: 39038939Free PMC Article
Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL
J Neurodev Disord 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. PMID: 38658850Free PMC Article
Kurahashi H, Kunisawa K, Mouri A
Methods Mol Biol 2024;2794:331-340. doi: 10.1007/978-1-0716-3810-1_28. PMID: 38630242
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

Clinical prediction guides

Schubert T, Schaaf CP
Dev Med Child Neurol 2025 Jan;67(1):35-48. Epub 2024 Jul 1 doi: 10.1111/dmcn.16018. PMID: 38950199Free PMC Article
Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL
J Neurodev Disord 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. PMID: 38658850Free 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

Recent systematic reviews

Mohammedsaeed W, Alharbi M
J Mol Neurosci 2025 Feb 6;75(1):17. doi: 10.1007/s12031-024-02306-3. PMID: 39913064
Mansour MEM, Alsaadany KR, Ahmed MAE, Elmetwalli AE
Psychopharmacology (Berl) 2025 Jan;242(1):45-62. Epub 2024 Dec 19 doi: 10.1007/s00213-024-06723-5. PMID: 39702840
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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