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Self-mutilation

MedGen UID:
88371
Concept ID:
C0085271
Mental or Behavioral Dysfunction
Synonyms: Deliberate self-harm
SNOMED CT: Deliberate self-harm (248062006); Self-abusive behavior (248062006); Self-destructive behavior (248062006); SIB - Self-injurious behavior (248062006); Self-injurious behavior (248062006)
 
HPO: HP:0100716

Definition

Aggression towards oneself. [from HPO]

Term Hierarchy

Conditions with this feature

Hyperlysinuria with hyperammonemia
MedGen UID:
120650
Concept ID:
C0268555
Disease or Syndrome
Succinate-semialdehyde dehydrogenase deficiency
MedGen UID:
124340
Concept ID:
C0268631
Disease or Syndrome
Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by infantile-onset hypotonia, developmental delay, cognitive impairment, expressive language deficit, and mild ataxia. Epilepsy is present in about half of affected individuals and is more common in adults. Hyperkinetic behavior, aggression, self-injurious behaviors, hallucinations, and sleep disturbances have been reported in nearly half of all affected individuals, more commonly in those who are older. Basal ganglia signs including choreoathetosis, dystonia, and myoclonus have been reported in a few individuals with earlier-onset, more severe disease. Involvement beyond the central nervous system has not been described. Individuals with SSADH deficiency typically have 4-hydroxybutyric aciduria present on urine organic acid analysis. Head MRI reveals T2 hyperintensities in multiple regions, involving the globus pallidi, cerebellar dentate nuclei, subthalamic nuclei, subcortical white matter, and brain stem, as well as cerebral and sometimes cerebellar atrophy. EEG findings include background slowing and spike discharges that are usually generalized.
De Lange syndrome
MedGen UID:
78752
Concept ID:
C0270972
Disease or Syndrome
Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS.
Gomez Lopez Hernandez syndrome
MedGen UID:
163201
Concept ID:
C0795959
Disease or Syndrome
Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).
Pettigrew syndrome
MedGen UID:
162924
Concept ID:
C0796254
Disease or Syndrome
Pettigrew syndrome is characterized by mental retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by Cacciagli et al., 2014). See 311510 for another X-linked mental retardation syndrome associated with basal ganglia disease (Waisman syndrome). See 220219 for another mental retardation syndrome with Dandy-Walker malformation.
Monoamine oxidase A deficiency
MedGen UID:
208683
Concept ID:
C0796275
Disease or Syndrome
Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency (Brunner et al., 1993).
Mental retardation, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Disease or Syndrome
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by global developmental delay/intellectual disability (ID), severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in about 80%; onset is usually around age two years. Sleep disturbances, present in about 80% can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (60%).
Chromosome 19p13.13 deletion syndrome
MedGen UID:
462244
Concept ID:
C3150894
Disease or Syndrome
19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13.Features commonly associated with this chromosomal change include an unusually large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, including speech, and children may speak few or no words. Weak muscle tone (hypotonia) and problems with coordinating muscle movement (ataxia) contribute to delays in gross motor skills (such as sitting and walking) and fine motor skills (such as holding a pencil).Other signs and symptoms that can occur with 19p13.13 deletion syndrome include seizures, abnormalities of brain structure, and mild differences in facial features (such as a prominent forehead). Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. These include eyes that do not point in the same direction (strabismus) and underdevelopment of the optic nerves, which carry visual information from the eyes to the brain.The signs and symptoms of 19p13.13 deletion syndrome vary among affected individuals. In part, this variation occurs because the size of the deletion, and the number of genes it affects, varies from person to person.
White-sutton syndrome
MedGen UID:
897984
Concept ID:
C4225351
Mental or Behavioral Dysfunction
White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by White et al., 2016). A significant number of patients have autism or autistic features (summary by Stessman et al., 2016).
Neurodevelopmental disorder with hypotonia, seizures, and absent language
MedGen UID:
934610
Concept ID:
C4310643
Disease or Syndrome
Short stature, developmental delay, and congenital heart defects
MedGen UID:
934718
Concept ID:
C4310751
Disease or Syndrome

Recent clinical studies

Etiology

Meijer KA, Russo RR, Adhvaryu DV
Orthopedics 2014 Apr;37(4):e391-4. doi: 10.3928/01477447-20140401-62. PMID: 24762846
Ciorba I, Farcus O, Giger R, Nisa L
Postgrad Med J 2014 Apr;90(1062):191-200. Epub 2014 Feb 10 doi: 10.1136/postgradmedj-2013-132036. PMID: 24516174
Mishra KK, Reddy S, Khairkar P
Int J STD AIDS 2014 Mar;25(4):312-4. Epub 2013 Sep 10 doi: 10.1177/0956462413501647. PMID: 24021211
Zanarini MC, Laudate CS, Frankenburg FR, Wedig MM, Fitzmaurice G
J Pers Disord 2013 Dec;27(6):783-94. Epub 2013 Jun 24 doi: 10.1521/pedi_2013_27_115. PMID: 23795756Free PMC Article
Gahr M, Plener PL, Kölle MA, Freudenmann RW, Schönfeldt-Lecuona C
Psychiatry Res 2012 Dec 30;200(2-3):977-83. Epub 2012 Jul 28 doi: 10.1016/j.psychres.2012.06.028. PMID: 22841344

Diagnosis

Veeder TA, Leo RJ
Gen Hosp Psychiatry 2017 Jan - Feb;44:43-50. Epub 2016 Sep 14 doi: 10.1016/j.genhosppsych.2016.09.003. PMID: 28041576
Gebresellassie HW
J Med Case Rep 2016 Sep 17;10(1):257. doi: 10.1186/s13256-016-1044-y. PMID: 27639977Free PMC Article
Chick J
Alcohol Alcohol 2015 Jul;50(4):377-8. Epub 2015 May 5 doi: 10.1093/alcalc/agv041. PMID: 25947629
Kharbach Y, Amiroune D, Ahsaini M, Bout A, Riyach O, Stuurman-Wieringa RE, Mellas S, Tazi MF, Khallouk A, El Fassi MJ, Rammouz I, Farih MH
J Med Case Rep 2014 Jul 7;8:246. doi: 10.1186/1752-1947-8-246. PMID: 25000934Free PMC Article
Fantuzzo JJ, Rogér JM, Barroner MD, Karp JM
J Oral Maxillofac Surg 2014 Jul;72(7):1327.e1-4. Epub 2014 Feb 16 doi: 10.1016/j.joms.2014.02.016. PMID: 24679955

Therapy

Anand JS, Habrat B, Barwina M, Waldman W
J Forensic Leg Med 2015 Feb;30:1-3. Epub 2014 Dec 13 doi: 10.1016/j.jflm.2014.12.003. PMID: 25623185
Meijer KA, Russo RR, Adhvaryu DV
Orthopedics 2014 Apr;37(4):e391-4. doi: 10.3928/01477447-20140401-62. PMID: 24762846
Fantuzzo JJ, Rogér JM, Barroner MD, Karp JM
J Oral Maxillofac Surg 2014 Jul;72(7):1327.e1-4. Epub 2014 Feb 16 doi: 10.1016/j.joms.2014.02.016. PMID: 24679955
Hong JM, Eun SC
J Craniofac Surg 2014;25(2):e116-8. doi: 10.1097/SCS.0000000000000447. PMID: 24621750
Gahr M, Plener PL, Kölle MA, Freudenmann RW, Schönfeldt-Lecuona C
Psychiatry Res 2012 Dec 30;200(2-3):977-83. Epub 2012 Jul 28 doi: 10.1016/j.psychres.2012.06.028. PMID: 22841344

Prognosis

Mowafy YN, Wahba NA, Sharaf AA
J Clin Pediatr Dent 2017;41(1):66-69. doi: 10.17796/1053-4628-41.1.66. PMID: 28052210
Tatu L, Bogousslavsky J
Front Neurol Neurosci 2016;38:143-54. Epub 2016 Apr 1 doi: 10.1159/000442653. PMID: 27035133
Kharbach Y, Amiroune D, Ahsaini M, Bout A, Riyach O, Stuurman-Wieringa RE, Mellas S, Tazi MF, Khallouk A, El Fassi MJ, Rammouz I, Farih MH
J Med Case Rep 2014 Jul 7;8:246. doi: 10.1186/1752-1947-8-246. PMID: 25000934Free PMC Article
Ciorba I, Farcus O, Giger R, Nisa L
Postgrad Med J 2014 Apr;90(1062):191-200. Epub 2014 Feb 10 doi: 10.1136/postgradmedj-2013-132036. PMID: 24516174
Zanarini MC, Laudate CS, Frankenburg FR, Wedig MM, Fitzmaurice G
J Pers Disord 2013 Dec;27(6):783-94. Epub 2013 Jun 24 doi: 10.1521/pedi_2013_27_115. PMID: 23795756Free PMC Article

Clinical prediction guides

Veeder TA, Leo RJ
Gen Hosp Psychiatry 2017 Jan - Feb;44:43-50. Epub 2016 Sep 14 doi: 10.1016/j.genhosppsych.2016.09.003. PMID: 28041576
Anand JS, Habrat B, Barwina M, Waldman W
J Forensic Leg Med 2015 Feb;30:1-3. Epub 2014 Dec 13 doi: 10.1016/j.jflm.2014.12.003. PMID: 25623185
Kharbach Y, Amiroune D, Ahsaini M, Bout A, Riyach O, Stuurman-Wieringa RE, Mellas S, Tazi MF, Khallouk A, El Fassi MJ, Rammouz I, Farih MH
J Med Case Rep 2014 Jul 7;8:246. doi: 10.1186/1752-1947-8-246. PMID: 25000934Free PMC Article
Schwerkoske JP, Caplan JP, Benford DM
Psychosomatics 2012 Jul-Aug;53(4):327-33. Epub 2012 May 30 doi: 10.1016/j.psym.2012.01.007. PMID: 22652302
Munerato MC, Moure SP, Machado V, Gomes FG
Clin Med Res 2011 Mar;9(1):42-5. Epub 2010 Sep 17 doi: 10.3121/cmr.2010.930. PMID: 20852088Free PMC Article

Recent systematic reviews

Veeder TA, Leo RJ
Gen Hosp Psychiatry 2017 Jan - Feb;44:43-50. Epub 2016 Sep 14 doi: 10.1016/j.genhosppsych.2016.09.003. PMID: 28041576
Gahr M, Plener PL, Kölle MA, Freudenmann RW, Schönfeldt-Lecuona C
Psychiatry Res 2012 Dec 30;200(2-3):977-83. Epub 2012 Jul 28 doi: 10.1016/j.psychres.2012.06.028. PMID: 22841344
Rissanen ML, Kylma J, Laukkanen E
Issues Ment Health Nurs 2011;32(9):575-83. doi: 10.3109/01612840.2011.578785. PMID: 21859408
Large M, Babidge N, Andrews D, Storey P, Nielssen O
Schizophr Bull 2009 Sep;35(5):1012-21. Epub 2008 May 20 doi: 10.1093/schbul/sbn040. PMID: 18495646Free PMC Article
Parrott HJ, Murray BJ
Int J Clin Pract 2001 Jun;55(5):317-9. PMID: 11452679

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