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Hyperacusis

MedGen UID:
20497
Concept ID:
C0034880
Sign or Symptom
Synonym: Low tolerance to sound
SNOMED CT: Sounds seem unnaturally loud (25289003); Oversensitive hearing (25289003); Loudness recruitment (194399009); Hyperacusis (25289003)
 
HPO: HP:0010780
Monarch Initiative: MONDO:0043303

Definition

Over-sensitivity to certain frequency ranges of sound. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperacusis

Conditions with this feature

5p partial monosomy syndrome
MedGen UID:
41345
Concept ID:
C0010314
Disease or Syndrome
Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Tay-Sachs disease, variant AB
MedGen UID:
78657
Concept ID:
C0268275
Disease or Syndrome
Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.
Chiari type I malformation
MedGen UID:
196689
Concept ID:
C0750929
Congenital Abnormality
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Chromosome 8q21.11 deletion syndrome
MedGen UID:
481861
Concept ID:
C3280231
Disease or Syndrome
The chromosome 8q21.11 deletion syndrome is characterized by impaired intellectual development and common facial dysmorphic features (summary by Palomares et al., 2011).
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
MedGen UID:
934707
Concept ID:
C4310740
Disease or Syndrome
TRIO-related intellectual disability (ID) is characterized by delay in acquisition of motor and language skills, mild to borderline intellectual disability, and neurobehavioral problems (including autistic traits or autism spectrum disorder, attention-deficit/hyperactivity disorder, and/or aggression). Neonatal or infantile feeding difficulties including poor suck, impaired bottle feeding, and failure to thrive are common and are often the presenting finding. Other findings can include microcephaly, variable hand and dental abnormalities, and suggestive facial features. Only ten of the 20 individuals with a TRIO pathogenic variant reported to date had sufficient information to make preliminary generalizations about clinical manifestations; it is anticipated that the phenotype of this newly described disorder will continue to evolve.
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
MedGen UID:
1385744
Concept ID:
C4479517
Disease or Syndrome
Jansen-de Vries syndrome (JDVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Professional guidelines

PubMed

Kil J, Harruff EE, Longenecker RJ
Hear Res 2022 Jan;413:108209. Epub 2021 Feb 19 doi: 10.1016/j.heares.2021.108209. PMID: 33678494
Ward BK, van de Berg R, van Rompaey V, Bisdorff A, Hullar TE, Welgampola MS, Carey JP
J Vestib Res 2021;31(3):131-141. doi: 10.3233/VES-200004. PMID: 33522990Free PMC Article
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704

Recent clinical studies

Etiology

Dodick DW, Lipton RB, Ailani J, Lu K, Finnegan M, Trugman JM, Szegedi A
N Engl J Med 2019 Dec 5;381(23):2230-2241. doi: 10.1056/NEJMoa1813049. PMID: 31800988
Jafari Z, Kolb BE, Mohajerani MH
Ageing Res Rev 2019 Dec;56:100963. Epub 2019 Sep 23 doi: 10.1016/j.arr.2019.100963. PMID: 31557539
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Baguley DM, Hoare DJ
HNO 2018 May;66(5):358-363. doi: 10.1007/s00106-017-0464-3. PMID: 29392341Free PMC Article
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article

Diagnosis

Ward BK, van de Berg R, van Rompaey V, Bisdorff A, Hullar TE, Welgampola MS, Carey JP
J Vestib Res 2021;31(3):131-141. doi: 10.3233/VES-200004. PMID: 33522990Free PMC Article
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Baguley DM, Hoare DJ
HNO 2018 May;66(5):358-363. doi: 10.1007/s00106-017-0464-3. PMID: 29392341Free PMC Article
Ralli M, Greco A, Cialente F, Di Stadio A, de Virgilio A, Longo L, Ciofalo A, Turchetta R, Cianfrone G, Vincentiis M
Int Tinnitus J 2017 Dec 1;21(2):112-121. doi: 10.5935/0946-5448.20170022. PMID: 29336129
Levine RA, Oron Y
Handb Clin Neurol 2015;129:409-31. doi: 10.1016/B978-0-444-62630-1.00023-8. PMID: 25726282

Therapy

Dodick DW, Lipton RB, Ailani J, Lu K, Finnegan M, Trugman JM, Szegedi A
N Engl J Med 2019 Dec 5;381(23):2230-2241. doi: 10.1056/NEJMoa1813049. PMID: 31800988
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Pienkowski M
Neuroscience 2019 May 21;407:120-134. Epub 2018 Sep 20 doi: 10.1016/j.neuroscience.2018.09.012. PMID: 30244031
Sereda M, Xia J, El Refaie A, Hall DA, Hoare DJ
Cochrane Database Syst Rev 2018 Dec 27;12(12):CD013094. doi: 10.1002/14651858.CD013094.pub2. PMID: 30589445Free PMC Article
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article

Prognosis

Sereda M, Xia J, Scutt P, Hilton MP, El Refaie A, Hoare DJ
Cochrane Database Syst Rev 2022 Nov 16;11(11):CD013514. doi: 10.1002/14651858.CD013514.pub2. PMID: 36383762Free PMC Article
Bramhall N, Beach EF, Epp B, Le Prell CG, Lopez-Poveda EA, Plack CJ, Schaette R, Verhulst S, Canlon B
Hear Res 2019 Jun;377:88-103. Epub 2019 Mar 9 doi: 10.1016/j.heares.2019.02.016. PMID: 30921644
Sedley W
Neuroscience 2019 May 21;407:213-228. Epub 2019 Jan 26 doi: 10.1016/j.neuroscience.2019.01.027. PMID: 30690137
Eggermont JJ
Eur J Neurosci 2015 Mar;41(5):665-76. doi: 10.1111/ejn.12759. PMID: 25728183
Gilchrist JM
Semin Neurol 2009 Feb;29(1):5-13. Epub 2009 Feb 12 doi: 10.1055/s-0028-1124018. PMID: 19214928

Clinical prediction guides

Ng JH, Kuthubutheen J
Otol Neurotol 2022 Oct 1;43(9):e1020-e1023. Epub 2022 Sep 1 doi: 10.1097/MAO.0000000000003676. PMID: 36047684
Potgieter I, Fackrell K, Kennedy V, Crunkhorn R, Hoare DJ
BMC Pediatr 2020 Jun 29;20(1):319. doi: 10.1186/s12887-020-02223-5. PMID: 32600446Free PMC Article
Sedley W
Neuroscience 2019 May 21;407:213-228. Epub 2019 Jan 26 doi: 10.1016/j.neuroscience.2019.01.027. PMID: 30690137
Sereda M, Xia J, El Refaie A, Hall DA, Hoare DJ
Cochrane Database Syst Rev 2018 Dec 27;12(12):CD013094. doi: 10.1002/14651858.CD013094.pub2. PMID: 30589445Free PMC Article
Rosing SN, Schmidt JH, Wedderkopp N, Baguley DM
BMJ Open 2016 Jun 3;6(6):e010596. doi: 10.1136/bmjopen-2015-010596. PMID: 27259524Free PMC Article

Recent systematic reviews

Parmar A, Prabhu PP
Eur Arch Otorhinolaryngol 2023 Mar;280(3):985-1004. Epub 2022 Nov 9 doi: 10.1007/s00405-022-07724-w. PMID: 36350369
Sereda M, Xia J, Scutt P, Hilton MP, El Refaie A, Hoare DJ
Cochrane Database Syst Rev 2022 Nov 16;11(11):CD013514. doi: 10.1002/14651858.CD013514.pub2. PMID: 36383762Free PMC Article
Sereda M, Xia J, El Refaie A, Hall DA, Hoare DJ
Cochrane Database Syst Rev 2018 Dec 27;12(12):CD013094. doi: 10.1002/14651858.CD013094.pub2. PMID: 30589445Free PMC Article
Di Stadio A, Dipietro L, Ricci G, Della Volpe A, Minni A, Greco A, de Vincentiis M, Ralli M
Int J Environ Res Public Health 2018 Sep 26;15(10) doi: 10.3390/ijerph15102120. PMID: 30261653Free PMC Article
Rosing SN, Schmidt JH, Wedderkopp N, Baguley DM
BMJ Open 2016 Jun 3;6(6):e010596. doi: 10.1136/bmjopen-2015-010596. PMID: 27259524Free PMC Article

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