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Impaired social interactions

MedGen UID:
57707
Concept ID:
C0150080
Mental or Behavioral Dysfunction
Synonyms: Impaired social interaction; Poor social interactions
SNOMED CT: Social interaction disorder (88598008); Social communication disorder (88598008); Impaired social interaction (88598008)
 
HPO: HP:0000735

Definition

Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V) [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired social interactions

Conditions with this feature

X-linked mental retardation with marfanoid habitus syndrome
MedGen UID:
167096
Concept ID:
C0796022
Disease or Syndrome
The phenotypic spectrum of MED12-related disorders, which is still being defined, includes at a minimum the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), and X-linked Ohdo syndrome. FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. X-linked Ohdo syndrome (XLOS) is characterized by intellectual disability, blepharophimosis, and facial coarsening. A number of individuals with nonsyndromic intellectual disability – including some affected females – have been described.
Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%).
Creatine deficiency, X-linked
MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
The cerebral creatine deficiency syndromes (CCDS), inborn errors of creatine metabolism, include the two creatine biosynthesis disorders, guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency, and the creatine transporter (CRTR) deficiency. Intellectual disability and seizures are common to all three CCDS. The majority of individuals with GAMT deficiency have a behavior disorder that can include autistic behaviors and self-mutilation; about 40% have movement disorder. Onset is between ages three months and three years. Only 14 individuals with AGAT deficiency have been reported. The phenotype of CRTR deficiency in affected males ranges from mild intellectual disability and speech delay to severe intellectual disability, seizures, movement disorder and behavior disorder; age at diagnosis ranges from two to 66 years. Clinical phenotype of females heterozygous for CRTR deficiency ranges from asymptomatic to severe phenotype resembling male phenotype.
Cortical dysplasia-focal epilepsy syndrome
MedGen UID:
355859
Concept ID:
C1864887
Disease or Syndrome
Pitt-Hopkins-like syndrome 1
MedGen UID:
413258
Concept ID:
C2750246
Disease or Syndrome

Recent clinical studies

Etiology

Liu L, Zhang D, Rodzinka-Pasko JK, Li YM
Nervenarzt 2016 Dec;87(Suppl 2):55-61. doi: 10.1007/s00115-016-0172-3. PMID: 27531204
Kim KN, Kwon HJ, Hong YC
Neurotoxicology 2016 Mar;53:193-200. Epub 2016 Feb 11 doi: 10.1016/j.neuro.2016.02.004. PMID: 26877220
Via E, Soriano-Mas C, Sánchez I, Forcano L, Harrison BJ, Davey CG, Pujol J, Martínez-Zalacaín I, Menchón JM, Fernández-Aranda F, Cardoner N
PLoS One 2015;10(7):e0133539. Epub 2015 Jul 21 doi: 10.1371/journal.pone.0133539. PMID: 26197051Free PMC Article
Gaynor JW, Nord AS, Wernovsky G, Bernbaum J, Solot CB, Burnham N, Zackai E, Heagerty PJ, Clancy RR, Nicolson SC, Jarvik GP, Gerdes M
Pediatrics 2009 Jul;124(1):241-50. doi: 10.1542/peds.2008-2281. PMID: 19564306Free PMC Article
Coco P
Adv Clin Care 1990 May-Jun;5(3):45. PMID: 2328078

Diagnosis

Liu L, Zhang D, Rodzinka-Pasko JK, Li YM
Nervenarzt 2016 Dec;87(Suppl 2):55-61. doi: 10.1007/s00115-016-0172-3. PMID: 27531204
Via E, Soriano-Mas C, Sánchez I, Forcano L, Harrison BJ, Davey CG, Pujol J, Martínez-Zalacaín I, Menchón JM, Fernández-Aranda F, Cardoner N
PLoS One 2015;10(7):e0133539. Epub 2015 Jul 21 doi: 10.1371/journal.pone.0133539. PMID: 26197051Free PMC Article
Parma V, Bulgheroni M, Tirindelli R, Castiello U
Biol Psychiatry 2013 Aug 1;74(3):220-6. Epub 2013 Feb 13 doi: 10.1016/j.biopsych.2013.01.010. PMID: 23414594
Venkat A, Jauch E, Russell WS, Crist CR, Farrell R
Postgrad Med J 2012 Aug;88(1042):472-81. Epub 2012 Mar 16 doi: 10.1136/postgradmedj-2011-130727. PMID: 22427366
Coco P
Adv Clin Care 1990 May-Jun;5(3):45. PMID: 2328078

Therapy

Gaynor JW, Jarvik GP, Gerdes M, Kim DS, Rajagopalan R, Bernbaum J, Wernovsky G, Nicolson SC, Spray TL, Clancy RR
J Thorac Cardiovasc Surg 2013 Jul;146(1):132-7. doi: 10.1016/j.jtcvs.2013.04.002. PMID: 23768805Free PMC Article
McLaughlin L, Mahon SM
Clin J Oncol Nurs 2012 Apr;16(2):171-8. doi: 10.1188/12.CJON.171-178. PMID: 22459526
Venkat A, Jauch E, Russell WS, Crist CR, Farrell R
Postgrad Med J 2012 Aug;88(1042):472-81. Epub 2012 Mar 16 doi: 10.1136/postgradmedj-2011-130727. PMID: 22427366
Alcantara J, Alcantara JD, Alcantara J
Explore (NY) 2011 Nov-Dec;7(6):384-90. doi: 10.1016/j.explore.2011.08.001. PMID: 22051563
Liu ZH, Chuang DM, Smith CB
Int J Neuropsychopharmacol 2011 Jun;14(5):618-30. Epub 2010 May 25 doi: 10.1017/S1461145710000520. PMID: 20497624Free PMC Article

Prognosis

Liu L, Zhang D, Rodzinka-Pasko JK, Li YM
Nervenarzt 2016 Dec;87(Suppl 2):55-61. doi: 10.1007/s00115-016-0172-3. PMID: 27531204
Via E, Soriano-Mas C, Sánchez I, Forcano L, Harrison BJ, Davey CG, Pujol J, Martínez-Zalacaín I, Menchón JM, Fernández-Aranda F, Cardoner N
PLoS One 2015;10(7):e0133539. Epub 2015 Jul 21 doi: 10.1371/journal.pone.0133539. PMID: 26197051Free PMC Article
Danzer E, Gerdes M, Bebbington MW, Koh J, Adzick NS, Johnson MP
Fetal Diagn Ther 2011;30(3):174-9. Epub 2011 Sep 8 doi: 10.1159/000330048. PMID: 21912086
Passant U, Elfgren C, Englund E, Gustafson L
Alzheimer Dis Assoc Disord 2005 Oct-Dec;19 Suppl 1:S15-8. PMID: 16317252

Clinical prediction guides

Kim KN, Kwon HJ, Hong YC
Neurotoxicology 2016 Mar;53:193-200. Epub 2016 Feb 11 doi: 10.1016/j.neuro.2016.02.004. PMID: 26877220
Via E, Soriano-Mas C, Sánchez I, Forcano L, Harrison BJ, Davey CG, Pujol J, Martínez-Zalacaín I, Menchón JM, Fernández-Aranda F, Cardoner N
PLoS One 2015;10(7):e0133539. Epub 2015 Jul 21 doi: 10.1371/journal.pone.0133539. PMID: 26197051Free PMC Article
Bailey AR, Hou H, Song M, Obregon DF, Portis S, Barger S, Shytle D, Stock S, Mori T, Sanberg PG, Murphy T, Tan J
Glia 2013 Sep;61(9):1556-69. Epub 2013 Jul 10 doi: 10.1002/glia.22544. PMID: 23840007Free PMC Article
Parma V, Bulgheroni M, Tirindelli R, Castiello U
Biol Psychiatry 2013 Aug 1;74(3):220-6. Epub 2013 Feb 13 doi: 10.1016/j.biopsych.2013.01.010. PMID: 23414594
Gaynor JW, Nord AS, Wernovsky G, Bernbaum J, Solot CB, Burnham N, Zackai E, Heagerty PJ, Clancy RR, Nicolson SC, Jarvik GP, Gerdes M
Pediatrics 2009 Jul;124(1):241-50. doi: 10.1542/peds.2008-2281. PMID: 19564306Free PMC Article

Recent systematic reviews

Liu L, Zhang D, Rodzinka-Pasko JK, Li YM
Nervenarzt 2016 Dec;87(Suppl 2):55-61. doi: 10.1007/s00115-016-0172-3. PMID: 27531204
Alcantara J, Alcantara JD, Alcantara J
Explore (NY) 2011 Nov-Dec;7(6):384-90. doi: 10.1016/j.explore.2011.08.001. PMID: 22051563
Andres C
Brain Res Bull 2002 Jan 1;57(1):109-19. PMID: 11827743

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