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Polyembolokoilamania

MedGen UID:
1701959
Concept ID:
C5139392
Mental or Behavioral Dysfunction
HPO: HP:0032508

Definition

Habitual insertion of foreign bodies into bodily orifices. [from HPO]

Term Hierarchy

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

Conditions with this feature

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.

Professional guidelines

PubMed

Poisson A, Nicolas A, Cochat P, Sanlaville D, Rigard C, de Leersnyder H, Franco P, Des Portes V, Edery P, Demily C
Orphanet J Rare Dis 2015 Sep 4;10:111. doi: 10.1186/s13023-015-0330-x. PMID: 26336863Free PMC Article
Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH
Clin Genet 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. PMID: 17539903

Recent clinical studies

Etiology

Donaruma-Kwoh MM, Weary CE, Cruz AT
Pediatr Emerg Care 2022 Aug 1;38(8):386-391. Epub 2022 Feb 23 doi: 10.1097/PEC.0000000000002669. PMID: 35904952
Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH
Clin Genet 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. PMID: 17539903

Diagnosis

Donaruma-Kwoh MM, Weary CE, Cruz AT
Pediatr Emerg Care 2022 Aug 1;38(8):386-391. Epub 2022 Feb 23 doi: 10.1097/PEC.0000000000002669. PMID: 35904952
Dunphy L, Sheridan G
BMJ Case Rep 2021 Mar 2;14(3) doi: 10.1136/bcr-2020-239461. PMID: 33653848Free PMC Article
Sharma D, Pandey S, Garg G, Sankhwar S
BMJ Case Rep 2018 May 26;2018 doi: 10.1136/bcr-2018-224494. PMID: 29804080Free PMC Article
Gropman AL, Duncan WC, Smith AC
Pediatr Neurol 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. PMID: 16647992
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR
Am J Hum Genet 1991 Dec;49(6):1207-18. PMID: 1746552Free PMC Article

Therapy

Sharma D, Pandey S, Garg G, Sankhwar S
BMJ Case Rep 2018 May 26;2018 doi: 10.1136/bcr-2018-224494. PMID: 29804080Free PMC Article
Ingves MV, Lau T, Fedoroff JP, Levine S
Arch Sex Behav 2014 Aug;43(6):1203-7. Epub 2014 Feb 26 doi: 10.1007/s10508-014-0264-8. PMID: 24569921
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR
Am J Hum Genet 1991 Dec;49(6):1207-18. PMID: 1746552Free PMC Article

Prognosis

Sharma D, Pandey S, Garg G, Sankhwar S
BMJ Case Rep 2018 May 26;2018 doi: 10.1136/bcr-2018-224494. PMID: 29804080Free PMC Article
Ingves MV, Lau T, Fedoroff JP, Levine S
Arch Sex Behav 2014 Aug;43(6):1203-7. Epub 2014 Feb 26 doi: 10.1007/s10508-014-0264-8. PMID: 24569921

Clinical prediction guides

Gropman AL, Duncan WC, Smith AC
Pediatr Neurol 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. PMID: 16647992
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR
Am J Hum Genet 1991 Dec;49(6):1207-18. PMID: 1746552Free PMC Article

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