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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
Donaldson JF, Rees RW, Steinbrecher HA
J Pediatr Urol 2014 Feb;10(1):11-24. Epub 2013 Sep 8 doi: 10.1016/j.jpurol.2013.07.024. PMID: 24135215

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
Anderson JD, Ofoe LC
Semin Speech Lang 2019 Aug;40(4):305-319. Epub 2019 Jul 16 doi: 10.1055/s-0039-1692965. PMID: 31311055Free PMC Article
Ward D
J Fluency Disord 2013 Jun;38(2):134-40. Epub 2013 Mar 1 doi: 10.1016/j.jfludis.2013.02.007. PMID: 23773666
Howell P, Lu C
J Fluency Disord 2013 Jun;38(2):63-5. Epub 2013 Mar 21 doi: 10.1016/j.jfludis.2013.03.003. PMID: 23773661
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

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
Anderson JD, Ofoe LC
Semin Speech Lang 2019 Aug;40(4):305-319. Epub 2019 Jul 16 doi: 10.1055/s-0039-1692965. PMID: 31311055Free PMC Article
Perez HR, Stoeckle JH
Can Fam Physician 2016 Jun;62(6):479-84. PMID: 27303004Free PMC Article
Perkins WH
J Speech Hear Disord 1990 Aug;55(3):370-82; discussion 394-7. doi: 10.1044/jshd.5503.370. PMID: 2199728
Webster M
Can Med Assoc J 1978 Aug 26;119(4):305. PMID: 688114Free PMC Article

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
Bjørklund G, Chartrand MS, Aaseth J
Environ Res 2017 May;155:380-384. Epub 2017 Mar 10 doi: 10.1016/j.envres.2017.03.003. PMID: 28282629
Perez HR, Stoeckle JH
Can Fam Physician 2016 Jun;62(6):479-84. PMID: 27303004Free PMC Article
Chen HC, Marsharani U
South Med J 2000 May;93(5):504-6. PMID: 10832952

Prognosis

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
Christman SS, Boutsen FR, Buckingham HW
Semin Speech Lang 2004 Nov;25(4):295-307. doi: 10.1055/s-2004-837243. PMID: 15599820
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

Aydin Uysal A, Fidan D, Al-Tamimi FY, Howell P
Clin Linguist Phon 2021 Oct 3;35(10):996-1009. Epub 2021 Jan 4 doi: 10.1080/02699206.2020.1866674. PMID: 33393379
Jafari R, Baziar M, Bleek B, Reuter M, Montag C
J Commun Disord 2015 Nov-Dec;58:119-25. Epub 2015 Oct 17 doi: 10.1016/j.jcomdis.2015.10.001. PMID: 26547120
Kell CA, Neumann K, von Kriegstein K, Posenenske C, von Gudenberg AW, Euler H, Giraud AL
Brain 2009 Oct;132(Pt 10):2747-60. Epub 2009 Aug 26 doi: 10.1093/brain/awp185. PMID: 19710179
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

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
Muneer A, Minhas S, Arya M, Ralph DJ
Int J Clin Pract 2008 Aug;62(8):1265-70. Epub 2008 May 8 doi: 10.1111/j.1742-1241.2008.01780.x. PMID: 18479367

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