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Global developmental delay with or without impaired intellectual development(GDDI)

MedGen UID:
1675328
Concept ID:
C5193032
Disease or Syndrome
Synonyms: GDDI; GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
 
Gene (location): CUX1 (7q22.1)
 
Monarch Initiative: MONDO:0032680
OMIM®: 618330

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).

Professional guidelines

PubMed

Yang L, Shu X, Mao S, Wang Y, Du X, Zou C
Genes (Basel) 2021 Jun 28;12(7) doi: 10.3390/genes12070987. PMID: 34203304Free PMC Article
Rawlinson WD, Boppana SB, Fowler KB, Kimberlin DW, Lazzarotto T, Alain S, Daly K, Doutré S, Gibson L, Giles ML, Greenlee J, Hamilton ST, Harrison GJ, Hui L, Jones CA, Palasanthiran P, Schleiss MR, Shand AW, van Zuylen WJ
Lancet Infect Dis 2017 Jun;17(6):e177-e188. Epub 2017 Mar 11 doi: 10.1016/S1473-3099(17)30143-3. PMID: 28291720
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Gómez-Roig MD, Pascal R, Cahuana MJ, García-Algar O, Sebastiani G, Andreu-Fernández V, Martínez L, Rodríguez G, Iglesia I, Ortiz-Arrabal O, Mesa MD, Cabero MJ, Guerra L, Llurba E, Domínguez C, Zanini MJ, Foraster M, Larqué E, Cabañas F, Lopez-Azorín M, Pérez A, Loureiro B, Pallás-Alonso CR, Escuder-Vieco D, Vento M
Fetal Diagn Ther 2021;48(4):245-257. Epub 2021 Mar 18 doi: 10.1159/000514884. PMID: 33735860
Martiniuk AL, Vujovich-Dunn C, Park M, Yu W, Lucas BR
J Dev Behav Pediatr 2017 Jan;38(1):67-78. doi: 10.1097/DBP.0000000000000376. PMID: 28009719
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
Bailey RL, West KP Jr, Black RE
Ann Nutr Metab 2015;66 Suppl 2:22-33. Epub 2015 Jun 2 doi: 10.1159/000371618. PMID: 26045325
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Diagnosis

Choo YY, Agarwal P, How CH, Yeleswarapu SP
Singapore Med J 2019 Mar;60(3):119-123. doi: 10.11622/smedj.2019025. PMID: 30997518Free PMC Article
Vasudevan P, Suri M
Clin Med (Lond) 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558. PMID: 29196358Free PMC Article
Marrus N, Hall L
Child Adolesc Psychiatr Clin N Am 2017 Jul;26(3):539-554. doi: 10.1016/j.chc.2017.03.001. PMID: 28577608Free PMC Article
Moeschler JB, Shevell M; Committee on Genetics
Pediatrics 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. PMID: 25157020Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Therapy

Samanta D
Pediatr Neurol 2020 Apr;105:3-9. Epub 2019 Nov 30 doi: 10.1016/j.pediatrneurol.2019.10.009. PMID: 32057594
Lucas BR, Elliott EJ, Coggan S, Pinto RZ, Jirikowic T, McCoy SW, Latimer J
BMC Pediatr 2016 Nov 29;16(1):193. doi: 10.1186/s12887-016-0731-6. PMID: 27899082Free PMC Article
Bailey RL, West KP Jr, Black RE
Ann Nutr Metab 2015;66 Suppl 2:22-33. Epub 2015 Jun 2 doi: 10.1159/000371618. PMID: 26045325
Colver A, Fairhurst C, Pharoah PO
Lancet 2014 Apr 5;383(9924):1240-9. Epub 2013 Nov 20 doi: 10.1016/S0140-6736(13)61835-8. PMID: 24268104
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948

Prognosis

Zengin-Akkuş P, Çelen-Yoldaş T, Kurtipek G, Özmert EN
Turk J Pediatr 2018;60(2):165-172. doi: 10.24953/turkjped.2018.02.008. PMID: 30325123
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
Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF
Ital J Pediatr 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article
Amaral DG, Schumann CM, Nordahl CW
Trends Neurosci 2008 Mar;31(3):137-45. Epub 2008 Feb 6 doi: 10.1016/j.tins.2007.12.005. PMID: 18258309

Clinical prediction guides

Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY
Am J Hum Genet 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. PMID: 35395208Free PMC Article
Sacchi C, Marino C, Nosarti C, Vieno A, Visentin S, Simonelli A
JAMA Pediatr 2020 Aug 1;174(8):772-781. doi: 10.1001/jamapediatrics.2020.1097. PMID: 32453414Free PMC Article
Fakhro KA
Adv Neurobiol 2020;24:83-96. doi: 10.1007/978-3-030-30402-7_3. PMID: 32006357
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article
Amaral DG, Schumann CM, Nordahl CW
Trends Neurosci 2008 Mar;31(3):137-45. Epub 2008 Feb 6 doi: 10.1016/j.tins.2007.12.005. PMID: 18258309

Recent systematic reviews

Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586Free PMC Article
Sacchi C, Marino C, Nosarti C, Vieno A, Visentin S, Simonelli A
JAMA Pediatr 2020 Aug 1;174(8):772-781. doi: 10.1001/jamapediatrics.2020.1097. PMID: 32453414Free PMC Article
Martiniuk AL, Vujovich-Dunn C, Park M, Yu W, Lucas BR
J Dev Behav Pediatr 2017 Jan;38(1):67-78. doi: 10.1097/DBP.0000000000000376. PMID: 28009719
Lucas BR, Elliott EJ, Coggan S, Pinto RZ, Jirikowic T, McCoy SW, Latimer J
BMC Pediatr 2016 Nov 29;16(1):193. doi: 10.1186/s12887-016-0731-6. PMID: 27899082Free PMC Article
Moeschler JB, Shevell M; Committee on Genetics
Pediatrics 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. PMID: 25157020Free PMC Article

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