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Stuttering, familial persistent, 2(STUT2)

MedGen UID:
332218
Concept ID:
C1836484
Disease or Syndrome
Synonym: Stuttering, Familial Persistent 2
 
Monarch Initiative: MONDO:0012232
OMIM®: 609261

Definition

Stuttering is a speech disorder characterized by the presence of syllable repetitions, syllable prolongations, and interruptions in the smooth flow of speech known as blocks (summary by Riaz et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial persistent stuttering, see 184450. [from OMIM]

Professional guidelines

PubMed

Gembäck C, McAllister A, Femrell L, Lagerberg TE
Int J Lang Commun Disord 2025 Mar-Apr;60(2):e70008. doi: 10.1111/1460-6984.70008. PMID: 39977729Free PMC Article

Recent clinical studies

Etiology

Gembäck C, McAllister A, Femrell L, Lagerberg TE
Int J Lang Commun Disord 2025 Mar-Apr;60(2):e70008. doi: 10.1111/1460-6984.70008. PMID: 39977729Free PMC Article
Costa JB, Juste F, Ritto AP, Sassi FC, Andrade CRF
Codas 2023;35(6):e20220206. Epub 2023 Nov 13 doi: 10.1590/2317-1782/20232022206pt. PMID: 37971052Free PMC Article
Costa JB, Ritto AP, Juste F, Sassi FC, de Andrade CRF
Int J Environ Res Public Health 2022 Apr 25;19(9) doi: 10.3390/ijerph19095225. PMID: 35564619Free PMC Article
Boyce JO, Jackson VE, van Reyk O, Parker R, Vogel AP, Eising E, Horton SE, Gillespie NA, Scheffer IE, Amor DJ, Hildebrand MS, Fisher SE, Martin NG, Reilly S, Bahlo M, Morgan AT
Dev Med Child Neurol 2022 Oct;64(10):1297-1306. Epub 2022 Mar 21 doi: 10.1111/dmcn.15211. PMID: 35307825
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D
N Engl J Med 2010 Feb 25;362(8):677-85. Epub 2010 Feb 10 doi: 10.1056/NEJMoa0902630. PMID: 20147709Free PMC Article

Diagnosis

Costa JB, Juste F, Ritto AP, Sassi FC, Andrade CRF
Codas 2023;35(6):e20220206. Epub 2023 Nov 13 doi: 10.1590/2317-1782/20232022206pt. PMID: 37971052Free PMC Article
Costa JB, Ritto AP, Juste F, Sassi FC, de Andrade CRF
Int J Environ Res Public Health 2022 Apr 25;19(9) doi: 10.3390/ijerph19095225. PMID: 35564619Free PMC Article
Howell P, Davis S
J Dev Behav Pediatr 2011 Apr;32(3):196-205. doi: 10.1097/DBP.0b013e31820fd4a9. PMID: 21336144
Howell P, Davis S, Williams R
Arch Dis Child 2009 Jan;94(1):42-6. Epub 2008 Sep 9 doi: 10.1136/adc.2007.134114. PMID: 18782846Free PMC Article
Suresh R, Ambrose N, Roe C, Pluzhnikov A, Wittke-Thompson JK, Ng MC, Wu X, Cook EH, Lundstrom C, Garsten M, Ezrati R, Yairi E, Cox NJ
Am J Hum Genet 2006 Apr;78(4):554-63. Epub 2006 Feb 1 doi: 10.1086/501370. PMID: 16532387Free PMC Article

Prognosis

Costa JB, Juste F, Ritto AP, Sassi FC, Andrade CRF
Codas 2023;35(6):e20220206. Epub 2023 Nov 13 doi: 10.1590/2317-1782/20232022206pt. PMID: 37971052Free PMC Article
Boyce JO, Jackson VE, van Reyk O, Parker R, Vogel AP, Eising E, Horton SE, Gillespie NA, Scheffer IE, Amor DJ, Hildebrand MS, Fisher SE, Martin NG, Reilly S, Bahlo M, Morgan AT
Dev Med Child Neurol 2022 Oct;64(10):1297-1306. Epub 2022 Mar 21 doi: 10.1111/dmcn.15211. PMID: 35307825
Koenraads SPC, Jansen PW, Baatenburg de Jong RJ, van der Schroeff MP, Franken MC
J Speech Lang Hear Res 2021 Dec 13;64(12):4563-4579. Epub 2021 Nov 4 doi: 10.1044/2021_JSLHR-20-00252. PMID: 34735297
Kefalianos E, Onslow M, Packman A, Vogel A, Pezic A, Mensah F, Conway L, Bavin E, Block S, Reilly S
J Speech Lang Hear Res 2017 Oct 17;60(10):2828-2839. doi: 10.1044/2017_JSLHR-S-16-0205. PMID: 28979988
Howell P, Davis S, Williams R
Arch Dis Child 2009 Jan;94(1):42-6. Epub 2008 Sep 9 doi: 10.1136/adc.2007.134114. PMID: 18782846Free PMC Article

Clinical prediction guides

Costa JB, Juste F, Ritto AP, Sassi FC, Andrade CRF
Codas 2023;35(6):e20220206. Epub 2023 Nov 13 doi: 10.1590/2317-1782/20232022206pt. PMID: 37971052Free PMC Article
Costa JB, Ritto AP, Juste F, Sassi FC, de Andrade CRF
Int J Environ Res Public Health 2022 Apr 25;19(9) doi: 10.3390/ijerph19095225. PMID: 35564619Free PMC Article
Koenraads SPC, Jansen PW, Baatenburg de Jong RJ, van der Schroeff MP, Franken MC
J Speech Lang Hear Res 2021 Dec 13;64(12):4563-4579. Epub 2021 Nov 4 doi: 10.1044/2021_JSLHR-20-00252. PMID: 34735297
Raza MH, Amjad R, Riazuddin S, Drayna D
Hum Genet 2012 Feb;131(2):311-3. Epub 2011 Dec 29 doi: 10.1007/s00439-011-1134-2. PMID: 22205390Free PMC Article
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D
N Engl J Med 2010 Feb 25;362(8):677-85. Epub 2010 Feb 10 doi: 10.1056/NEJMoa0902630. PMID: 20147709Free PMC Article

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