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Stuttering, familial persistent, 4(STUT4)

MedGen UID:
766317
•Concept ID:
C3553403
•
Disease or Syndrome
Synonym: STUT4
 
Monarch Initiative: MONDO:0013844
OMIM®: 614668

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). For a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 (184450). [from OMIM]

Professional guidelines

PubMed

Online indirect group treatment for preschool children who stutter-Effects on stuttering severity and the impact of stuttering on child and parents.
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

Analysis of cumulative risk predictors for persistent stuttering: family perception and amount of speech disruptions.
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
Self-reported impact of developmental stuttering across the lifespan.
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
What Are Predictors for Persistence in Childhood Stuttering?
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
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D
Am J Hum Genet 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007. PMID: 26544806Free PMC Article
Classification of child stuttering: Part I. Transient developmental, neurogenic acquired, and persistent child stuttering.
Gemelli RJ
Child Psychiatry Hum Dev 1982 Summer;12(4):220-53. doi: 10.1007/BF01812587. PMID: 6751710

Diagnosis

Analysis of cumulative risk predictors for persistent stuttering: family perception and amount of speech disruptions.
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
Exploring Relationships Among Risk Factors for Persistence in Early Childhood Stuttering.
Walsh B, Christ S, Weber C
J Speech Lang Hear Res 2021 Aug 9;64(8):2909-2927. Epub 2021 Jul 14 doi: 10.1044/2021_JSLHR-21-00034. PMID: 34260279Free PMC Article
What Are Predictors for Persistence in Childhood Stuttering?
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
The effects of bilingualism on stuttering during late childhood.
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
New complexities in the genetics of stuttering: significant sex-specific linkage signals.
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

Therapy

Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance.
Raza MH, Gertz EM, Mundorff J, Lukong J, Kuster J, Schäffer AA, Drayna D
Hum Genet 2013 Apr;132(4):385-96. Epub 2012 Dec 13 doi: 10.1007/s00439-012-1252-5. PMID: 23239121Free PMC Article

Prognosis

Analysis of cumulative risk predictors for persistent stuttering: family perception and amount of speech disruptions.
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
Self-reported impact of developmental stuttering across the lifespan.
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
Bidirectional Associations of Childhood Stuttering With Behavior and Temperament.
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
What Are Predictors for Persistence in Childhood Stuttering?
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
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D
Am J Hum Genet 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007. PMID: 26544806Free PMC Article

Clinical prediction guides

Analysis of cumulative risk predictors for persistent stuttering: family perception and amount of speech disruptions.
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
Bidirectional Associations of Childhood Stuttering With Behavior and Temperament.
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
What Are Predictors for Persistence in Childhood Stuttering?
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
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D
Am J Hum Genet 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007. PMID: 26544806Free PMC Article
Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q.
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

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