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Behavioral abnormality

MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Synonyms: Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances
SNOMED CT: Behavioral problem (277843001); Problem behavior (277843001); Abnormal behavior (25786006); Strange behavior (25786006); Abnormal conduct (25786006); Disturbance of conation (25786006)
 
HPO: HP:0000708

Definition

An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBehavioral abnormality

Conditions with this feature

Diabetes mellitus AND insipidus with optic atrophy AND deafness
MedGen UID:
21923
Concept ID:
C0043207
Disease or Syndrome
WFS1-related disorders range from Wolfram syndrome (WFS) to WFS1-related low-frequency sensory hearing loss (also known as DFNA6/14/38 low-frequency sensorineural hearing loss [LFSNHL]). WFS is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 16 years, and typically associated with sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. Median age at death is 30 years. WFS-like disease is characterized by sensorineural hearing loss, diabetes mellitus, psychiatric illness, and variable optic atrophy. WFS1-related LFSNHL is characterized by congenital, nonsyndromic, slowly progressive, low-frequency (<2000 Hz) sensorineural hearing loss.
Sotos syndrome
MedGen UID:
61232
Concept ID:
C0175695
Disease or Syndrome
Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild to severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems, advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity / pes planus, maternal preeclampsia, neonatal jaundice, neonatal hypotonia, renal anomalies, scoliosis, and seizures.
Hyperhistidinemia
MedGen UID:
113135
Concept ID:
C0220992
Disease or Syndrome
An increased concentration of histidine in the blood.
Weaver syndrome
MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency.
Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).
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.
Breath-holding spells
MedGen UID:
105400
Concept ID:
C0476287
Sign or Symptom
The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone (Lombroso and Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario and Burleson, 1993; Dimario et al., 1998).
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
199687
Concept ID:
C0751587
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Epilepsy, focal, with speech disorder and with or without mental retardation
MedGen UID:
322043
Concept ID:
C1832814
Disease or Syndrome
GRIN2A-related speech disorders and epilepsy are characterized by speech disorders in all affected individuals and a range of epilepsy syndromes present in about 90%. Severe speech disorders observed can include dysarthria and speech dyspraxia, and both receptive and expressive language delay/regression; more mildly affected individuals may display subtly impaired intelligibility of conversational speech. Epilepsy features include seizure onset usually between ages three and six years, focal epilepsy with language and/or global developmental regression, and electroencephalogram (EEG) showing continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Seizure types include seizures associated with aura of perioral paresthesia, focal or focal motor seizures (often evolving to generalized tonic-clonic), and atypical absence seizures. Epilepsy syndromes can include: Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), childhood epilepsy with centrotemporal spikes (CECTS), atypical childhood epilepsy with centrotemporal spikes (ACECTS), autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), and infantile-onset epileptic encephalopathy.
Epilepsy, nocturnal frontal lobe, type 4
MedGen UID:
332082
Concept ID:
C1835905
Disease or Syndrome
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.
Homocysteinemia due to MTHFR deficiency
MedGen UID:
383829
Concept ID:
C1856058
Disease or Syndrome
Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992).
Vasculopathy, retinal, with cerebral leukodystrophy
MedGen UID:
348124
Concept ID:
C1860518
Disease or Syndrome
Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007).
15q13.3 microdeletion syndrome
MedGen UID:
393784
Concept ID:
C2677613
Congenital Abnormality
Individuals with the 15q13.3 microdeletion are at increased risk for a wide range of clinical manifestations including intellectual disability, seizures, autism spectrum disorders, and schizophrenia; however, the microdeletion itself does not appear to lead to a clinically recognizable syndrome and a subset of persons with the deletion have no obvious clinical findings. Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. Intellectual disability, observed in about half of the individuals with this recurrent deletion, is usually mild but can be moderate to severe.
Chromosome 22q11.2 deletion syndrome, distal
MedGen UID:
395634
Concept ID:
C2678480
Disease or Syndrome
Chromosome 16p12.1 deletion syndrome, 520-kb
MedGen UID:
460626
Concept ID:
C3149276
Disease or Syndrome
16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; individuals with schizophrenia) makes it difficult to accurately associate specific phenotypes with the 16p12.2 recurrent deletion. Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranging from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/or behavioral problems. Other findings can include: hearing loss, dental abnormalities, renal and genital anomalies (the latter in males), and cleft palate ± cleft lip.
Homocystinuria due to CBS deficiency
MedGen UID:
461694
Concept ID:
C3150344
Disease or Syndrome
Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.
Mental retardation, autosomal dominant 6
MedGen UID:
462761
Concept ID:
C3151411
Mental or Behavioral Dysfunction
GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common. Other infantile- or childhood-onset findings include microcephaly; dystonic, dyskinetic, or choreiform movement disorder; and/or cortical visual impairment. Brain MRI reveals a malformation of cortical development in a minority of affected individuals. To date, fewer than 100 individuals with GRIN2B-related neurodevelopmental disorder have been reported.
Mental retardation, X-linked, syndromic, Raymond type
MedGen UID:
477037
Concept ID:
C3275406
Disease or Syndrome
X-Linked mental retardation 90
MedGen UID:
477074
Concept ID:
C3275443
Disease or Syndrome
Kabuki syndrome 2
MedGen UID:
477126
Concept ID:
C3275495
Disease or Syndrome
Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities including isolated premature thelarche in females, feeding problems, and hearing loss.
Epilepsy, nocturnal frontal lobe, 5
MedGen UID:
767220
Concept ID:
C3554306
Disease or Syndrome
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2
MedGen UID:
815798
Concept ID:
C3809468
Disease or Syndrome
Mental retardation 49, X-linked
MedGen UID:
854667
Concept ID:
C3887959
Disease or Syndrome
Epileptic encephalopathy, early infantile, 24
MedGen UID:
862968
Concept ID:
C4014531
Disease or Syndrome
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).
Mental retardation, X-linked 61
MedGen UID:
924419
Concept ID:
C4283894
Disease or Syndrome
Mental retardation, X-linked 105
MedGen UID:
934783
Concept ID:
C4310816
Disease or Syndrome

Recent clinical studies

Etiology

Kalita J, Misra UK, Mani VE, Bhoi SK
J Neurol Sci 2016 Jul 15;366:110-115. Epub 2016 May 11 doi: 10.1016/j.jns.2016.05.017. PMID: 27288787
Dyckman KA, Lee AK, Agam Y, Vangel M, Goff DC, Barton JJ, Manoach DS
Schizophr Res 2011 Oct;132(1):62-8. Epub 2011 Aug 9 doi: 10.1016/j.schres.2011.07.026. PMID: 21831602Free PMC Article
Mukhopadhyay K, Malhi P, Mahajan R, Narang A
Indian J Pediatr 2010 Sep;77(9):963-7. Epub 2010 Sep 3 doi: 10.1007/s12098-010-0149-3. PMID: 20814839
Chiang YC, Hung TW, Lee CW, Yan JY, Ho IK
J Biomed Sci 2010 Jun 7;17:46. doi: 10.1186/1423-0127-17-46. PMID: 20529288Free PMC Article
Thapa A, Chandra SP, Sinha S, Sreenivas V, Sharma BS, Tripathi M
Seizure 2010 May;19(4):211-6. Epub 2010 Mar 3 doi: 10.1016/j.seizure.2010.02.004. PMID: 20202866

Diagnosis

Kalita J, Misra UK, Mani VE, Bhoi SK
J Neurol Sci 2016 Jul 15;366:110-115. Epub 2016 May 11 doi: 10.1016/j.jns.2016.05.017. PMID: 27288787
Pulai S, Biswas A, Roy A, Guin DS, Pandit A, Gangopadhyay G, Ghorai PK, Sarkhel S, Senapati AK
Neurol India 2014 Mar-Apr;62(2):153-8. doi: 10.4103/0028-3886.132349. PMID: 24823724
Kobayashi Z, Arai T, Yokota O, Tsuchiya K, Hosokawa M, Oshima K, Niizato K, Akiyama H, Mizusawa H
Neuropathology 2013 Feb;33(1):83-6. Epub 2012 May 29 doi: 10.1111/j.1440-1789.2012.01325.x. PMID: 22640227
Narayanan PV, Balachandran MK
Asian J Surg 2012 Apr;35(2):96-8. Epub 2012 May 28 doi: 10.1016/j.asjsur.2012.04.023. PMID: 22720866
Tanaka Y, Meguro K, Yamaguchi S, Ishii H, Watanuki S, Funaki Y, Yamaguchi K, Yamadori A, Iwata R, Itoh M
Ann Nucl Med 2003 Oct;17(7):567-73. PMID: 14651356

Therapy

Taliyan R, Ramagiri S
J Recept Signal Transduct Res 2016 Aug;36(4):402-10. Epub 2015 Nov 10 doi: 10.3109/10799893.2015.1108338. PMID: 26554621
Chang T, Alexopoulos H, Pettingill P, McMenamin M, Deacon R, Erdelyi F, Szabó G, Buckley CJ, Vincent A
PLoS One 2013;8(9):e72921. Epub 2013 Sep 18 doi: 10.1371/journal.pone.0072921. PMID: 24058450Free PMC Article
Chiang YC, Hung TW, Lee CW, Yan JY, Ho IK
J Biomed Sci 2010 Jun 7;17:46. doi: 10.1186/1423-0127-17-46. PMID: 20529288Free PMC Article
Borroni B, Grassi M, Costanzi C, Bianchi M, Padovani A
Cogn Behav Neurol 2009 Dec;22(4):222-8. doi: 10.1097/WNN.0b013e3181bf2e5d. PMID: 19996874
Tanaka Y, Meguro K, Yamaguchi S, Ishii H, Watanuki S, Funaki Y, Yamaguchi K, Yamadori A, Iwata R, Itoh M
Ann Nucl Med 2003 Oct;17(7):567-73. PMID: 14651356

Prognosis

Kalita J, Misra UK, Mani VE, Bhoi SK
J Neurol Sci 2016 Jul 15;366:110-115. Epub 2016 May 11 doi: 10.1016/j.jns.2016.05.017. PMID: 27288787
Aoki N, Tsuchiya K, Kobayashi Z, Arai T, Togo T, Miyazaki H, Kondo H, Ishizu H, Uchikado H, Katsuse O, Hirayasu Y, Akiyama H
Neuropathology 2012 Jun;32(3):272-9. Epub 2011 Oct 6 doi: 10.1111/j.1440-1789.2011.01253.x. PMID: 21978320
Dyckman KA, Lee AK, Agam Y, Vangel M, Goff DC, Barton JJ, Manoach DS
Schizophr Res 2011 Oct;132(1):62-8. Epub 2011 Aug 9 doi: 10.1016/j.schres.2011.07.026. PMID: 21831602Free PMC Article
Mukhopadhyay K, Malhi P, Mahajan R, Narang A
Indian J Pediatr 2010 Sep;77(9):963-7. Epub 2010 Sep 3 doi: 10.1007/s12098-010-0149-3. PMID: 20814839
Kobayashi Z, Tsuchiya K, Arai T, Yokota O, Yoshida M, Shimomura Y, Kondo H, Haga C, Asaoka T, Onaya M, Ishizu H, Akiyama H, Mizusawa H
J Neurol Sci 2010 Nov 15;298(1-2):70-7. doi: 10.1016/j.jns.2010.08.013. PMID: 20810131

Clinical prediction guides

Lal S, Peng KW, Steele MB, Jenks N, Ma H, Kohanbash G, Phillips JJ, Raffel C
Hum Gene Ther Clin Dev 2016 Dec;27(4):145-151. Epub 2016 Sep 7 doi: 10.1089/humc.2016.062. PMID: 27604429
Fattore L, Diana M
Neurosci Biobehav Rev 2016 Jun;65:341-61. Epub 2016 Apr 16 doi: 10.1016/j.neubiorev.2016.04.006. PMID: 27095547
Dyckman KA, Lee AK, Agam Y, Vangel M, Goff DC, Barton JJ, Manoach DS
Schizophr Res 2011 Oct;132(1):62-8. Epub 2011 Aug 9 doi: 10.1016/j.schres.2011.07.026. PMID: 21831602Free PMC Article
Mukhopadhyay K, Malhi P, Mahajan R, Narang A
Indian J Pediatr 2010 Sep;77(9):963-7. Epub 2010 Sep 3 doi: 10.1007/s12098-010-0149-3. PMID: 20814839
Tanaka Y, Meguro K, Yamaguchi S, Ishii H, Watanuki S, Funaki Y, Yamaguchi K, Yamadori A, Iwata R, Itoh M
Ann Nucl Med 2003 Oct;17(7):567-73. PMID: 14651356

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