U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Sønsterud H, Howells K, Ward D
J Commun Disord 2022 Sep-Oct;99:106246. Epub 2022 Jul 12 doi: 10.1016/j.jcomdis.2022.106246. PMID: 35858497
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
Walsh B, Usler E, Bostian A, Mohan R, Gerwin KL, Brown B, Weber C, Smith A
Semin Speech Lang 2018 Sep;39(4):299-312. Epub 2018 Aug 24 doi: 10.1055/s-0038-1667159. PMID: 30142641Free 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

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
Prasse JE, Kikano GE
Am Fam Physician 2008 May 1;77(9):1271-6. PMID: 18540491
Perkins WH
J Speech Hear Disord 1990 Aug;55(3):370-82; discussion 394-7. doi: 10.1044/jshd.5503.370. PMID: 2199728

Therapy

Rissardo JP, Fornari Caprara AL
Neurol India 2021 Nov-Dec;69(6):1524-1538. doi: 10.4103/0028-3886.333440. PMID: 34979637
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
Kheirandish P, Chinegwundoh F, Kulkarni S
BJU Int 2011 Oct;108(7):1068-72. doi: 10.1111/j.1464-410X.2011.10367.x. PMID: 21914108

Prognosis

Naz H, Kausar R
J Pak Med Assoc 2022 Sep;72(9):1704-1707. doi: 10.47391/JPMA.925. PMID: 36280960
Walsh B, Usler E, Bostian A, Mohan R, Gerwin KL, Brown B, Weber C, Smith A
Semin Speech Lang 2018 Sep;39(4):299-312. Epub 2018 Aug 24 doi: 10.1055/s-0038-1667159. PMID: 30142641Free PMC Article
Smith A, Weber C
J Speech Lang Hear Res 2017 Sep 18;60(9):2483-2505. doi: 10.1044/2017_JSLHR-S-16-0343. PMID: 28837728Free 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
Jones R, Choi D, Conture E, Walden T
Semin Speech Lang 2014 May;35(2):114-31. Epub 2014 Apr 29 doi: 10.1055/s-0034-1371755. PMID: 24782274Free PMC Article

Clinical prediction guides

Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS
Brain 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. PMID: 37977818Free PMC Article
Walsh B, Usler E, Bostian A, Mohan R, Gerwin KL, Brown B, Weber C, Smith A
Semin Speech Lang 2018 Sep;39(4):299-312. Epub 2018 Aug 24 doi: 10.1055/s-0038-1667159. PMID: 30142641Free PMC Article
Mawson AR, Radford NT, Jacob B
Eur Neurol 2016;76(5-6):244-251. Epub 2016 Oct 18 doi: 10.1159/000452215. PMID: 27750253
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
Jones R, Choi D, Conture E, Walden T
Semin Speech Lang 2014 May;35(2):114-31. Epub 2014 Apr 29 doi: 10.1055/s-0034-1371755. PMID: 24782274Free PMC Article

Recent systematic reviews

Johnson G, Onslow M, Horton S, Kefalianos E
J Fluency Disord 2023 Dec;78:106015. Epub 2023 Sep 22 doi: 10.1016/j.jfludis.2023.106015. PMID: 37776613
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
Hofslundsengen H, Kirmess M, Guttormsen LS, Næss KB, Kefalianos E
J Fluency Disord 2022 Mar;71:105884. Epub 2021 Nov 10 doi: 10.1016/j.jfludis.2021.105884. PMID: 34798495
Kornisch M
J Fluency Disord 2021 Mar;67:105819. Epub 2020 Dec 3 doi: 10.1016/j.jfludis.2020.105819. PMID: 33296800
Burnett AL
Fertil Steril 2020 Jan;113(1):6-12. doi: 10.1016/j.fertnstert.2019.11.013. PMID: 32033724

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...