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Self-biting

MedGen UID:
603118
Concept ID:
C0424375
Finding
Synonyms: Bites self; Biting self
SNOMED CT: Biting self (248072009); Bites self (248072009)
 
HPO: HP:0012169

Definition

Habitual biting of one's own body. [from HPO]

Conditions with this feature

Fragile X syndrome
MedGen UID:
8912
Concept ID:
C0016667
Disease or Syndrome
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
MedGen UID:
482290
Concept ID:
C3280660
Disease or Syndrome
Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016). Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission See also EMPF2 (617086), caused by mutation in the MFF gene (614785) on chromosome 2q36.
X-linked intellectual disability, Cantagrel type
MedGen UID:
813060
Concept ID:
C3806730
Disease or Syndrome
X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).
Hypomagnesemia, seizures, and intellectual disability 2
MedGen UID:
1675904
Concept ID:
C5193023
Disease or Syndrome
Hypomagnesemia, seizures, and impaired intellectual development-2 (HOMGSMR2) is characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significantly impaired intellectual development (Schlingmann et al., 2018). For a discussion of genetic heterogeneity of hypomagnesemia, seizures, and impaired intellectual development, see HOMGSMR1 (616418).
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
MedGen UID:
1808159
Concept ID:
C5676961
Disease or Syndrome
Autosomal recessive intellectual developmental disorder-75 with neuropsychiatric features and variant lissencephaly (MRT75) is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development. Most affected individuals have behavioral abnormalities, including aggression and ADHD; a few have psychiatric manifestations, including psychosis. More variable additional features include well-controlled seizures and dysmorphic facial features. Brain imaging often shows frontal predominant pachygyria or other gyri/sulci abnormalities, consistent with a variant of lissencephaly and a malformation of cortical development (MCD) (summary by Zaki et al., 2021).
Intellectual developmental disorder, autosomal recessive 77
MedGen UID:
1823966
Concept ID:
C5774193
Mental or Behavioral Dysfunction
Autosomal recessive intellectual developmental disorder-77 (MRT77) is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay with variably impaired cognitive development apparent from infancy. Affected individuals usually have delayed walking, sometimes with an unsteady gait, and may have poor speech and communication. Brain imaging is normal, and there are no additional significant neurologic abnormalities (Khoshbakht et al., 2021). Mutation in the CEP104 gene also causes a form of Joubert syndrome (JBTS25; 616781).

Professional guidelines

PubMed

Garcia-Romero MDM, Torres RJ, Garcia-Puig J, Pascual-Pascual SI
Pediatr Neurol 2022 Feb;127:6-10. Epub 2021 Nov 1 doi: 10.1016/j.pediatrneurol.2021.10.018. PMID: 34891105

Recent clinical studies

Etiology

Heise CO, Zaccariotto M, Martins RS, Sterman-Neto H, Siqueira MG
Childs Nerv Syst 2022 Sep;38(9):1773-1776. Epub 2022 Jun 20 doi: 10.1007/s00381-022-05574-9. PMID: 35723725
Buono S, Zagaria T, Recupero M, Elia M, Kerr M, Di Nuovo S, Ferri R
Seizure 2020 Nov;82:99-104. Epub 2020 Sep 16 doi: 10.1016/j.seizure.2020.09.009. PMID: 33045542
Baizabal-Carvallo JF, Jankovic J
J Neurol 2017 Jul;264(7):1482-1487. Epub 2017 Jun 26 doi: 10.1007/s00415-017-8551-7. PMID: 28653211
Buono S, Scannella F, Palmigiano MB, Elia M, Kerr M, Di Nuovo S
Seizure 2012 Apr;21(3):160-4. Epub 2012 Jan 13 doi: 10.1016/j.seizure.2011.10.008. PMID: 22244737
Favaro A, Ferrara S, Santonastaso P
J Clin Psychiatry 2007 Jan;68(1):122-31. doi: 10.4088/jcp.v68n0117. PMID: 17284140

Diagnosis

Danish N, Khawaja IS, Schenck CH
J Clin Sleep Med 2018 May 15;14(5):889-891. doi: 10.5664/jcsm.7134. PMID: 29734991Free PMC Article
Tordjman S, Anderson GM, Charrier A, Oriol C, Kermarrec S, Canitano R, Botbol M, Coulon N, Antoine C, Brailly-Tabard S, Cohen D, Haidar H, Trabado S, Carlier M, Bronsard G, Mottron L
J Clin Psychiatry 2018 Mar/Apr;79(2) doi: 10.4088/JCP.16m10889. PMID: 29617065
Baizabal-Carvallo JF, Jankovic J
J Neurol 2017 Jul;264(7):1482-1487. Epub 2017 Jun 26 doi: 10.1007/s00415-017-8551-7. PMID: 28653211
Favazza AR
J Nerv Ment Dis 1998 May;186(5):259-68. doi: 10.1097/00005053-199805000-00001. PMID: 9612442
Brasic JR, Barnett JY, Ahn SC, Nadrich RH, Will MV, Clair A
Psychol Rep 1997 Feb;80(1):155-60. doi: 10.2466/pr0.1997.80.1.155. PMID: 9122322

Therapy

Garcia-Romero MDM, Torres RJ, Garcia-Puig J, Pascual-Pascual SI
Pediatr Neurol 2022 Feb;127:6-10. Epub 2021 Nov 1 doi: 10.1016/j.pediatrneurol.2021.10.018. PMID: 34891105
Danish N, Khawaja IS, Schenck CH
J Clin Sleep Med 2018 May 15;14(5):889-891. doi: 10.5664/jcsm.7134. PMID: 29734991Free PMC Article
Khasnavis T, Torres RJ, Sommerfeld B, Puig JG, Chipkin R, Jinnah HA
Mol Genet Metab 2016 Jul;118(3):160-166. Epub 2016 Apr 24 doi: 10.1016/j.ymgme.2016.04.012. PMID: 27179999
Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA
Mol Genet Metab 2016 Apr;117(4):401-6. Epub 2016 Feb 18 doi: 10.1016/j.ymgme.2016.02.005. PMID: 26922636
Favazza AR
J Nerv Ment Dis 1998 May;186(5):259-68. doi: 10.1097/00005053-199805000-00001. PMID: 9612442

Prognosis

Buono S, Zagaria T, Recupero M, Elia M, Kerr M, Di Nuovo S, Ferri R
Seizure 2020 Nov;82:99-104. Epub 2020 Sep 16 doi: 10.1016/j.seizure.2020.09.009. PMID: 33045542
Arhakis A, Topouzelis N, Kotsiomiti E, Kotsanos N
Dent Traumatol 2010 Dec;26(6):496-500. doi: 10.1111/j.1600-9657.2010.00930.x. PMID: 21078074
Favaro A, Ferrara S, Santonastaso P
J Clin Psychiatry 2007 Jan;68(1):122-31. doi: 10.4088/jcp.v68n0117. PMID: 17284140

Clinical prediction guides

Buono S, Zagaria T, Recupero M, Elia M, Kerr M, Di Nuovo S, Ferri R
Seizure 2020 Nov;82:99-104. Epub 2020 Sep 16 doi: 10.1016/j.seizure.2020.09.009. PMID: 33045542
Riera-Punet N, Martinez-Gomis J, Zamora-Olave C, Willaert E, Peraire M
J Prosthet Dent 2019 Apr;121(4):631-636. Epub 2018 Nov 30 doi: 10.1016/j.prosdent.2018.06.010. PMID: 30503152
Tordjman S, Anderson GM, Charrier A, Oriol C, Kermarrec S, Canitano R, Botbol M, Coulon N, Antoine C, Brailly-Tabard S, Cohen D, Haidar H, Trabado S, Carlier M, Bronsard G, Mottron L
J Clin Psychiatry 2018 Mar/Apr;79(2) doi: 10.4088/JCP.16m10889. PMID: 29617065
Baizabal-Carvallo JF, Jankovic J
J Neurol 2017 Jul;264(7):1482-1487. Epub 2017 Jun 26 doi: 10.1007/s00415-017-8551-7. PMID: 28653211
Buono S, Scannella F, Palmigiano MB, Elia M, Kerr M, Di Nuovo S
Seizure 2012 Apr;21(3):160-4. Epub 2012 Jan 13 doi: 10.1016/j.seizure.2011.10.008. PMID: 22244737

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