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Spastic diplegia and intellectual disability

MedGen UID:
376526
Concept ID:
C1849139
Disease or Syndrome
Synonyms: Hereditary spastic diplegia with mental retardation; Spastic diplegia and mental retardation; Spastic diplegia infantile type
 
Monarch Initiative: MONDO:0010042
OMIM®: 270600

Clinical features

From HPO
Spastic diplegia
MedGen UID:
44181
Concept ID:
C0023882
Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Professional guidelines

PubMed

van de Loo M, van Kaam A, Offringa M, Doyle LW, Cooper C, Onland W
Cochrane Database Syst Rev 2024 Apr 10;4(4):CD013271. doi: 10.1002/14651858.CD013271.pub2. PMID: 38597338Free PMC Article
Adams JB, Sorenson JC, Pollard EL, Kirby JK, Audhya T
Nutrients 2021 May 28;13(6) doi: 10.3390/nu13061849. PMID: 34071548Free PMC Article
Hauer J, Houtrow AJ; SECTION ON HOSPICE AND PALLIATIVE MEDICINE, COUNCIL ON CHILDREN WITH DISABILITIES
Pediatrics 2017 Jun;139(6) doi: 10.1542/peds.2017-1002. PMID: 28562301

Recent clinical studies

Etiology

van Eyk CL, Fahey MC, Gecz J
Nat Rev Neurol 2023 Sep;19(9):542-555. Epub 2023 Aug 3 doi: 10.1038/s41582-023-00847-6. PMID: 37537278
Li N, Zhou P, Tang H, He L, Fang X, Zhao J, Wang X, Qi Y, Sun C, Lin Y, Qin F, Yang M, Zhang Z, Liao C, Zheng S, Peng X, Xue T, Zhu Q, Li H, Li Y, Liu L, Huang J, Liu L, Peng C, Kaindl AM, Gecz J, Han D, Liu D, Xu K, Hu H
Brain 2022 Mar 29;145(1):119-141. doi: 10.1093/brain/awab209. PMID: 34077496Free PMC Article
Stadskleiv K
Dev Med Child Neurol 2020 Mar;62(3):283-289. Epub 2020 Jan 9 doi: 10.1111/dmcn.14463. PMID: 32010976
Scherer N, Verhey I, Kuper H
PLoS One 2019;14(7):e0219888. Epub 2019 Jul 30 doi: 10.1371/journal.pone.0219888. PMID: 31361768Free PMC Article
Hauer J, Houtrow AJ; SECTION ON HOSPICE AND PALLIATIVE MEDICINE, COUNCIL ON CHILDREN WITH DISABILITIES
Pediatrics 2017 Jun;139(6) doi: 10.1542/peds.2017-1002. PMID: 28562301

Diagnosis

van Eyk CL, Fahey MC, Gecz J
Nat Rev Neurol 2023 Sep;19(9):542-555. Epub 2023 Aug 3 doi: 10.1038/s41582-023-00847-6. PMID: 37537278
Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL
JAMA 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148. PMID: 33528536Free PMC Article
Zablotsky B, Black LI, Maenner MJ, Schieve LA, Danielson ML, Bitsko RH, Blumberg SJ, Kogan MD, Boyle CA
Pediatrics 2019 Oct;144(4) doi: 10.1542/peds.2019-0811. PMID: 31558576Free PMC Article
Hauer J, Houtrow AJ; SECTION ON HOSPICE AND PALLIATIVE MEDICINE, COUNCIL ON CHILDREN WITH DISABILITIES
Pediatrics 2017 Jun;139(6) doi: 10.1542/peds.2017-1002. PMID: 28562301
Pini DM, Fröhlich PC, Rigo L
Einstein (Sao Paulo) 2016 Oct-Dec;14(4):501-507. doi: 10.1590/S1679-45082016AO3712. PMID: 28076597Free PMC Article

Therapy

Kaya Y, Saka S, Tuncer D
Eur J Pediatr 2023 Jul;182(7):3147-3155. Epub 2023 Apr 26 doi: 10.1007/s00431-023-04959-5. PMID: 37186034
Adams JB, Sorenson JC, Pollard EL, Kirby JK, Audhya T
Nutrients 2021 May 28;13(6) doi: 10.3390/nu13061849. PMID: 34071548Free PMC Article
Lopes JBP, Duarte NAC, Lazzari RD, Oliveira CS
J Bodyw Mov Ther 2020 Oct;24(4):479-483. Epub 2018 Jun 28 doi: 10.1016/j.jbmt.2018.06.006. PMID: 33218550
Valentín-Gudiol M, Mattern-Baxter K, Girabent-Farrés M, Bagur-Calafat C, Hadders-Algra M, Angulo-Barroso RM
Cochrane Database Syst Rev 2017 Jul 29;7(7):CD009242. doi: 10.1002/14651858.CD009242.pub3. PMID: 28755534Free PMC Article
Hauer J, Houtrow AJ; SECTION ON HOSPICE AND PALLIATIVE MEDICINE, COUNCIL ON CHILDREN WITH DISABILITIES
Pediatrics 2017 Jun;139(6) doi: 10.1542/peds.2017-1002. PMID: 28562301

Prognosis

Gonzalez-Mantilla PJ, Hu Y, Myers SM, Finucane BM, Ledbetter DH, Martin CL, Moreno-De-Luca A
JAMA Pediatr 2023 May 1;177(5):472-478. doi: 10.1001/jamapediatrics.2023.0008. PMID: 36877506Free PMC Article
Williams MJ, Ramson JA, Brownfoot FC
Cochrane Database Syst Rev 2022 Aug 9;8(8):CD006764. doi: 10.1002/14651858.CD006764.pub4. PMID: 35943347Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Rogers EE, Hintz SR
Semin Perinatol 2016 Dec;40(8):497-509. Epub 2016 Nov 16 doi: 10.1053/j.semperi.2016.09.002. PMID: 27865437
Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR
Pediatr Neurol 2004 Mar;30(3):151-62. doi: 10.1016/j.pediatrneurol.2003.08.004. PMID: 15033196

Clinical prediction guides

Kaya Y, Saka S, Tuncer D
Eur J Pediatr 2023 Jul;182(7):3147-3155. Epub 2023 Apr 26 doi: 10.1007/s00431-023-04959-5. PMID: 37186034
Lopes JBP, Duarte NAC, Lazzari RD, Oliveira CS
J Bodyw Mov Ther 2020 Oct;24(4):479-483. Epub 2018 Jun 28 doi: 10.1016/j.jbmt.2018.06.006. PMID: 33218550
Scherer N, Verhey I, Kuper H
PLoS One 2019;14(7):e0219888. Epub 2019 Jul 30 doi: 10.1371/journal.pone.0219888. PMID: 31361768Free PMC Article
Pini DM, Fröhlich PC, Rigo L
Einstein (Sao Paulo) 2016 Oct-Dec;14(4):501-507. doi: 10.1590/S1679-45082016AO3712. PMID: 28076597Free PMC Article
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA
Am J Hum Genet 2013 Feb 7;92(2):210-20. Epub 2013 Jan 17 doi: 10.1016/j.ajhg.2012.12.011. PMID: 23332918Free PMC Article

Recent systematic reviews

Olusanya BO, Smythe T, Ogbo FA, Nair MKC, Scher M, Davis AC
Front Public Health 2023;11:1122009. Epub 2023 Feb 16 doi: 10.3389/fpubh.2023.1122009. PMID: 36891340Free PMC Article
Gonzalez-Mantilla PJ, Hu Y, Myers SM, Finucane BM, Ledbetter DH, Martin CL, Moreno-De-Luca A
JAMA Pediatr 2023 May 1;177(5):472-478. doi: 10.1001/jamapediatrics.2023.0008. PMID: 36877506Free PMC Article
Williams MJ, Ramson JA, Brownfoot FC
Cochrane Database Syst Rev 2022 Aug 9;8(8):CD006764. doi: 10.1002/14651858.CD006764.pub4. PMID: 35943347Free PMC Article
Scherer N, Verhey I, Kuper H
PLoS One 2019;14(7):e0219888. Epub 2019 Jul 30 doi: 10.1371/journal.pone.0219888. PMID: 31361768Free PMC Article
Valentín-Gudiol M, Mattern-Baxter K, Girabent-Farrés M, Bagur-Calafat C, Hadders-Algra M, Angulo-Barroso RM
Cochrane Database Syst Rev 2017 Jul 29;7(7):CD009242. doi: 10.1002/14651858.CD009242.pub3. PMID: 28755534Free PMC Article

Supplemental Content

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