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Stuttering, familial persistent, 1(STUT1)

MedGen UID:
483580
Concept ID:
C3489627
Disease or Syndrome
Synonym: STAMMERING
 
Gene (location): AP4E1 (15q21.2)
 
Monarch Initiative: MONDO:0008483
OMIM®: 184450

Definition

Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010). Stuttering typically arises in young children, where it affects at least 15% of those in age range 4 to 6 years (Bloodstein, 1995). Stuttering usually resolves spontaneously before adolescence, leading to a population prevalence of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 (Yairi et al., 1996). Genetic Heterogeneity of Familial Persistent Stuttering Also see STUT2 (609261), mapped to chromosome 12q24; STUT3 (614655), mapped to chromosome 3q; and STUT4 (614668) mapped to chromosome 16q. [from OMIM]

Clinical features

From HPO
Stuttering
MedGen UID:
20981
Concept ID:
C0038506
Mental or Behavioral Dysfunction
Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.

Professional guidelines

PubMed

Laiho A, Elovaara H, Kaisamatti K, Luhtalampi K, Talaskivi L, Pohja S, Routamo-Jaatela K, Vuorio E
J Commun Disord 2022 Sep-Oct;99:106242. Epub 2022 Jun 16 doi: 10.1016/j.jcomdis.2022.106242. PMID: 35751980
Junuzovic-Zunic L, Sinanovic O, Majic B
Med Arch 2021 Dec;75(6):456-461. doi: 10.5455/medarh.2021.75.456-461. PMID: 35169374Free PMC Article
Shenker RC, Santayana G
Semin Speech Lang 2018 Sep;39(4):313-323. Epub 2018 Aug 24 doi: 10.1055/s-0038-1667160. PMID: 30142642

Recent clinical studies

Etiology

Laiho A, Elovaara H, Kaisamatti K, Luhtalampi K, Talaskivi L, Pohja S, Routamo-Jaatela K, Vuorio E
J Commun Disord 2022 Sep-Oct;99:106242. Epub 2022 Jun 16 doi: 10.1016/j.jcomdis.2022.106242. PMID: 35751980
Shenker RC, Santayana G
Semin Speech Lang 2018 Sep;39(4):313-323. Epub 2018 Aug 24 doi: 10.1055/s-0038-1667160. PMID: 30142642
de Sonneville-Koedoot C, Stolk E, Rietveld T, Franken MC
PLoS One 2015;10(7):e0133758. Epub 2015 Jul 28 doi: 10.1371/journal.pone.0133758. PMID: 26218228Free PMC Article
Kraaimaat FW, Vanryckeghem M, Van Dam-Baggen R
J Fluency Disord 2002 Winter;27(4):319-30; quiz 330-1. doi: 10.1016/s0094-730x(02)00160-2. PMID: 12506449
Ardila A, Bateman JR, Niño CR, Pulido E, Rivera DB, Vanegas CJ
J Commun Disord 1994 Mar;27(1):37-48. doi: 10.1016/0021-9924(94)90009-4. PMID: 8006205

Diagnosis

Junuzovic-Zunic L, Sinanovic O, Majic B
Med Arch 2021 Dec;75(6):456-461. doi: 10.5455/medarh.2021.75.456-461. PMID: 35169374Free PMC Article
Sander RW, Osborne CA
Am Fam Physician 2019 Nov 1;100(9):556-560. PMID: 31674746
Perez HR, Stoeckle JH
Can Fam Physician 2016 Jun;62(6):479-84. PMID: 27303004Free PMC Article
Leung AK, Robson WL
Clin Pediatr (Phila) 1990 Sep;29(9):498-502. doi: 10.1177/000992289002900901. PMID: 2242640
Perkins WH
J Speech Hear Disord 1990 Aug;55(3):370-82; discussion 394-7. doi: 10.1044/jshd.5503.370. PMID: 2199728

Therapy

Reddy HM, Poole JS, Maguire GA, Stahl SM
Psychiatr Clin North Am 2020 Jun;43(2):399-413. Epub 2020 Apr 8 doi: 10.1016/j.psc.2020.02.008. PMID: 32439029
Trenque T, Claustre G, Herlem E, Djerada Z, Trenque A, Morel A, Azzouz B
Br J Clin Pharmacol 2019 Nov;85(11):2634-2637. Epub 2019 Sep 12 doi: 10.1111/bcp.14097. PMID: 31418914Free PMC Article
Perez HR, Stoeckle JH
Can Fam Physician 2016 Jun;62(6):479-84. PMID: 27303004Free PMC Article
de Sonneville-Koedoot C, Stolk E, Rietveld T, Franken MC
PLoS One 2015;10(7):e0133758. Epub 2015 Jul 28 doi: 10.1371/journal.pone.0133758. PMID: 26218228Free PMC Article
Chen HC, Marsharani U
South Med J 2000 May;93(5):504-6. PMID: 10832952

Prognosis

de Sonneville-Koedoot C, Stolk E, Rietveld T, Franken MC
PLoS One 2015;10(7):e0133758. Epub 2015 Jul 28 doi: 10.1371/journal.pone.0133758. PMID: 26218228Free PMC Article
Hickok G, Houde J, Rong F
Neuron 2011 Feb 10;69(3):407-22. doi: 10.1016/j.neuron.2011.01.019. PMID: 21315253Free PMC Article
Büchel C, Sommer M
PLoS Biol 2004 Feb;2(2):E46. Epub 2004 Feb 17 doi: 10.1371/journal.pbio.0020046. PMID: 14966540Free PMC Article
Chen HC, Marsharani U
South Med J 2000 May;93(5):504-6. PMID: 10832952
Ardila A, Bateman JR, Niño CR, Pulido E, Rivera DB, Vanegas CJ
J Commun Disord 1994 Mar;27(1):37-48. doi: 10.1016/0021-9924(94)90009-4. PMID: 8006205

Clinical prediction guides

Lee H, Sim H, Lee E, Choi D
J Commun Disord 2017 Jan-Feb;65:54-64. Epub 2016 Dec 21 doi: 10.1016/j.jcomdis.2016.12.001. PMID: 28038762
de Sonneville-Koedoot C, Stolk E, Rietveld T, Franken MC
PLoS One 2015;10(7):e0133758. Epub 2015 Jul 28 doi: 10.1371/journal.pone.0133758. PMID: 26218228Free PMC Article
Kraaimaat FW, Vanryckeghem M, Van Dam-Baggen R
J Fluency Disord 2002 Winter;27(4):319-30; quiz 330-1. doi: 10.1016/s0094-730x(02)00160-2. PMID: 12506449
Lebrun Y, Leleux C, Retif J
Acta Neurochir (Wien) 1987;85(3-4):103-9. doi: 10.1007/BF01456105. PMID: 2438907
Timmons BA, Boudreau JP
Percept Mot Skills 1978 Apr;46(2):551-5. doi: 10.2466/pms.1978.46.2.551. PMID: 662555

Recent systematic reviews

Lunardelo PP, Fukuda MTH, Stefanelli ACGF, Zanchetta S
Codas 2023;35(2):e20220044. Epub 2023 May 1 doi: 10.1590/2317-1782/20232022044pt. PMID: 37132698Free PMC Article
Laiho A, Elovaara H, Kaisamatti K, Luhtalampi K, Talaskivi L, Pohja S, Routamo-Jaatela K, Vuorio E
J Commun Disord 2022 Sep-Oct;99:106242. Epub 2022 Jun 16 doi: 10.1016/j.jcomdis.2022.106242. PMID: 35751980
Burnett AL
Fertil Steril 2020 Jan;113(1):6-12. doi: 10.1016/j.fertnstert.2019.11.013. PMID: 32033724
Nippold MA
Int J Speech Lang Pathol 2019 Aug;21(4):368-376. Epub 2018 Apr 11 doi: 10.1080/17549507.2018.1457721. PMID: 29642734
Nye C, Vanryckeghem M, Schwartz JB, Herder C, Turner HM 3rd, Howard C
J Speech Lang Hear Res 2013 Jun;56(3):921-32. Epub 2012 Dec 28 doi: 10.1044/1092-4388(2012/12-0036). PMID: 23275413

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