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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
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
Evidence-Based Recommendations for an Optimal Prenatal Supplement for Women in the U.S., Part Two: Minerals.
Adams JB, Sorenson JC, Pollard EL, Kirby JK, Audhya T
Nutrients 2021 May 28;13(6) doi: 10.3390/nu13061849. PMID: 34071548Free PMC Article
Pain Assessment and Treatment in Children With Significant Impairment of the Central Nervous System.
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

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.
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
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
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
Cognitive functioning in children with cerebral palsy.
Stadskleiv K
Dev Med Child Neurol 2020 Mar;62(3):283-289. Epub 2020 Jan 9 doi: 10.1111/dmcn.14463. PMID: 32010976
Depression and anxiety in parents of children with intellectual and developmental disabilities: A systematic review and meta-analysis.
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
Pain Assessment and Treatment in Children With Significant Impairment of the Central Nervous System.
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

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.
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
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
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
Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009-2017.
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
Pain Assessment and Treatment in Children With Significant Impairment of the Central Nervous System.
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
Oral health evaluation in special needs individuals.
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

Effect of hippotherapy on balance, functional mobility, and functional independence in children with Down syndrome: randomized controlled trial.
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
Different corticosteroids and regimens for accelerating fetal lung maturation for babies at risk of preterm birth.
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
Evidence-Based Recommendations for an Optimal Prenatal Supplement for Women in the U.S., Part Two: Minerals.
Adams JB, Sorenson JC, Pollard EL, Kirby JK, Audhya T
Nutrients 2021 May 28;13(6) doi: 10.3390/nu13061849. PMID: 34071548Free PMC Article
Virtual reality in the rehabilitation process for individuals with cerebral palsy and Down syndrome: A systematic review.
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
Pain Assessment and Treatment in Children With Significant Impairment of the Central Nervous System.
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

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
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
Different corticosteroids and regimens for accelerating fetal lung maturation for babies at risk of preterm birth.
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
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N
Nat Rev Neurol 2020 Nov;16(11):618-635. Epub 2020 Sep 7 doi: 10.1038/s41582-020-0395-6. PMID: 32895508Free PMC Article
Genetic mimics of cerebral palsy.
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
Early neurodevelopmental outcomes of extremely preterm infants.
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

Clinical prediction guides

Effect of hippotherapy on balance, functional mobility, and functional independence in children with Down syndrome: randomized controlled trial.
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
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
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
Virtual reality in the rehabilitation process for individuals with cerebral palsy and Down syndrome: A systematic review.
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
Depression and anxiety in parents of children with intellectual and developmental disabilities: A systematic review and meta-analysis.
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
Oral health evaluation in special needs individuals.
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

Recent systematic reviews

Global prevalence of developmental disabilities in children and adolescents: A systematic umbrella review.
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
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
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
Virtual reality in the rehabilitation process for individuals with cerebral palsy and Down syndrome: A systematic review.
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
Depression and anxiety in parents of children with intellectual and developmental disabilities: A systematic review and meta-analysis.
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
Treadmill interventions in children under six years of age at risk of neuromotor delay.
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

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