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Impulsivity

MedGen UID:
43850
Concept ID:
C0021125
Mental or Behavioral Dysfunction
Synonyms: Behavior, Impulsive; Behaviors, Impulsive; Impulsive Behavior; Impulsive Behaviors; Impulsivities
 
HPO: HP:0100710

Definition

Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. [from HPO]

Conditions with this feature

Hyperglycinemia, transient neonatal
MedGen UID:
82818
Concept ID:
C0268560
Disease or Syndrome
FRAXE
MedGen UID:
155512
Concept ID:
C0751157
Disease or Syndrome
Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).
Autism, susceptibility to, X-linked 4
MedGen UID:
162886
Concept ID:
C0795888
Finding
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.
Brunner syndrome
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).
Spinocerebellar ataxia type 21
MedGen UID:
375311
Concept ID:
C1843891
Disease or Syndrome
Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Pili torti-developmental delay-neurological abnormalities syndrome
MedGen UID:
342358
Concept ID:
C1849811
Disease or Syndrome
Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019).
Neurodegeneration with brain iron accumulation 2B
MedGen UID:
346658
Concept ID:
C1857747
Disease or Syndrome
PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.
Microcephaly 4, primary, autosomal recessive
MedGen UID:
347655
Concept ID:
C1858516
Disease or Syndrome
Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
MedGen UID:
346929
Concept ID:
C1858535
Disease or Syndrome
In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] = -2 SD) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal. Except for brain malformations in most affected individuals, no other congenital malformations are observed. Central nervous system involvement can include delayed motor development, mild-to-severe intellectual disability (ID), behavior problems, epilepsy, spasticity, and ataxia.
Koolen-de Vries syndrome
MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
Koolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative.
Hereditary sensory neuropathy-deafness-dementia syndrome
MedGen UID:
481515
Concept ID:
C3279885
Disease or Syndrome
DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems comprising a phenotypic spectrum that includes hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). DNMT1 disorder is often characterized by moderate-to-severe sensorineural hearing loss beginning in the teens or early 20s, sensory impairment, sudomotor dysfunction (loss of sweating), and dementia usually beginning in the mid-40s. In some affected individuals, narcolepsy/cataplexy syndrome and ataxia are predominant findings.
Neurodegeneration with brain iron accumulation 4
MedGen UID:
482001
Concept ID:
C3280371
Disease or Syndrome
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.
Microcephaly 9, primary, autosomal recessive
MedGen UID:
766800
Concept ID:
C3553886
Disease or Syndrome
Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).
Chromosome 22q13 duplication syndrome
MedGen UID:
816174
Concept ID:
C3809844
Disease or Syndrome
Syndromic X-linked intellectual disability 34
MedGen UID:
902184
Concept ID:
C4225417
Mental or Behavioral Dysfunction
X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).
X-linked intellectual disability, van Esch type
MedGen UID:
930741
Concept ID:
C4305072
Disease or Syndrome
Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).
Developmental and epileptic encephalopathy, 43
MedGen UID:
934679
Concept ID:
C4310712
Disease or Syndrome
Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the Epi4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Intellectual disability, autosomal dominant 43
MedGen UID:
934738
Concept ID:
C4310771
Mental or Behavioral Dysfunction
HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking. After learning to walk, many affected individuals continue to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech is also delayed, and some people with this condition never learn to talk. Most people with HIVEP2-related intellectual disability also have unusual physical features, such as widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with tapered ends, although there is no characteristic pattern of such features among affected individuals. Many people with the condition exhibit neurodevelopmental disorders, such as hyperactivity, attention deficit disorder, aggression, anxiety, and autism spectrum disorder, which is a group of developmental disorders characterized by impaired communication and social interaction.\n\nOther features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look in the same direction (strabismus), "lazy eye" (amblyopia), and farsightedness (hyperopia). Some people with HIVEP2-related intellectual disability have gastrointestinal problems, which can include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation.
Intellectual disability, X-linked, syndromic, Houge type
MedGen UID:
1624740
Concept ID:
C4538788
Mental or Behavioral Dysfunction
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Intellectual disability, autosomal dominant 56
MedGen UID:
1638835
Concept ID:
C4693389
Mental or Behavioral Dysfunction
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
MedGen UID:
1641154
Concept ID:
C4693860
Disease or Syndrome
Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).
Macrocephaly, acquired, with impaired intellectual development
MedGen UID:
1648471
Concept ID:
C4748993
Disease or Syndrome
Shukla-Vernon syndrome
MedGen UID:
1674076
Concept ID:
C5193146
Disease or Syndrome
Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by Shukla et al., 2019).
Neurodevelopmental, jaw, eye, and digital syndrome
MedGen UID:
1712714
Concept ID:
C5394477
Disease or Syndrome
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen (Holt et al., 2019).
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
MedGen UID:
1718475
Concept ID:
C5394523
Disease or Syndrome
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies (Accogli et al., 2019).
Coenzyme q10 deficiency, primary, 9
MedGen UID:
1740444
Concept ID:
C5436638
Disease or Syndrome
Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).
Dystonia 30
MedGen UID:
1785079
Concept ID:
C5543312
Disease or Syndrome
Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by Steel et al., 2020). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT30 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS16.
Radio-Tartaglia syndrome
MedGen UID:
1778557
Concept ID:
C5543339
Disease or Syndrome
Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021).
Intellectual disability, X-linked 21
MedGen UID:
1790509
Concept ID:
C5551510
Disease or Syndrome
NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.
Ritscher-Schinzel syndrome 4
MedGen UID:
1794149
Concept ID:
C5561939
Disease or Syndrome
Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
MedGen UID:
1794216
Concept ID:
C5562006
Disease or Syndrome
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).
Schaaf-Yang syndrome
MedGen UID:
1807366
Concept ID:
C5575066
Disease or Syndrome
Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder that shares multiple clinical features with the genetically related Prader-Willi syndrome. It usually manifests at birth with muscular hypotonia in all and distal joint contractures in a majority of affected individuals. Gastrointestinal/feeding problems are particularly pronounced in infancy and childhood, but can transition to hyperphagia and obesity in adulthood. Respiratory distress is present in many individuals at birth, with approximately half requiring intubation and mechanical ventilation, and approximately 20% requiring tracheostomy. Skeletal manifestations such as joint contractures, scoliosis, and decreased bone mineral density are frequently observed. All affected individuals show developmental delay, resulting in intellectual disability of variable degree, from low-normal intelligence to severe intellectual disability. Other findings may include short stature, seizures, eye anomalies, and hypogonadism.
Intellectual developmental disorder, autosomal recessive 73
MedGen UID:
1802013
Concept ID:
C5676902
Mental or Behavioral Dysfunction
Autosomal recessive intellectual developmental disorder-73 (MRT73) is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features (summary by Morrison et al., 2021).
Developmental delay, language impairment, and ocular abnormalities
MedGen UID:
1824035
Concept ID:
C5774262
Disease or Syndrome
Developmental delay, language impairment, and ocular abnormalities (DEVLO) is characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Most affected individuals also have a small head circumference (down to -3 SD) and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. Older patients require special schooling and often demonstrate behavioral abnormalities (Laboy Cintron et al., 2022).
Tessadori-Van Haaften neurodevelopmental syndrome 3
MedGen UID:
1824083
Concept ID:
C5774310
Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).
Neurodevelopmental disorder with microcephaly and movement abnormalities
MedGen UID:
1841260
Concept ID:
C5830624
Disease or Syndrome
Neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly and short stature. Ophthalmic features, behavioral abnormalities, and nonspecific dysmorphic features are commonly observed. Additional more variable features include seizures, brain imaging abnormalities, and skeletal defects (Serey-Gaut et al., 2023).
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
MedGen UID:
1841264
Concept ID:
C5830628
Disease or Syndrome
Remitting megalencephalic leukoencephalopathy with subcortical cysts-4 (MLC4) is an autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. The severity of neurologic dysfunction is variable, even within a family, but tends to show improvement with time. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region, consistent with MLC. Brain imaging abnormalities also tend to improve with time, indicating a remitting disease course (Passchier et al., 2023). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).

Professional guidelines

PubMed

Mechler K, Banaschewski T, Hohmann S, Häge A
Pharmacol Ther 2022 Feb;230:107940. Epub 2021 Jun 23 doi: 10.1016/j.pharmthera.2021.107940. PMID: 34174276
Weibel S, Menard O, Ionita A, Boumendjel M, Cabelguen C, Kraemer C, Micoulaud-Franchi JA, Bioulac S, Perroud N, Sauvaget A, Carton L, Gachet M, Lopez R
Encephale 2020 Feb;46(1):30-40. Epub 2019 Oct 11 doi: 10.1016/j.encep.2019.06.005. PMID: 31610922
Felt BT, Biermann B, Christner JG, Kochhar P, Harrison RV
Am Fam Physician 2014 Oct 1;90(7):456-64. PMID: 25369623

Recent clinical studies

Etiology

Elliott MV, Johnson SL, Pearlstein JG, Muñoz Lopez DE, Keren H
Clin Psychol Rev 2023 Mar;100:102232. Epub 2022 Nov 28 doi: 10.1016/j.cpr.2022.102232. PMID: 36512906Free PMC Article
Stamates AL, Linden-Carmichael AN, Miller SE, Feldstein Ewing SW
Exp Clin Psychopharmacol 2023 Jun;31(3):599-604. Epub 2022 Sep 29 doi: 10.1037/pha0000608. PMID: 36174142Free PMC Article
Liebel SW, Edwards KAM, Broglio SP
Curr Psychiatry Rep 2021 Mar 2;23(4):15. doi: 10.1007/s11920-021-01232-0. PMID: 33656641
Beauchaine TP, Zisner AR, Sauder CL
Annu Rev Clin Psychol 2017 May 8;13:343-368. Epub 2017 Mar 30 doi: 10.1146/annurev-clinpsy-021815-093253. PMID: 28375718
Hamza CA, Willoughby T, Heffer T
Clin Psychol Rev 2015 Jun;38:13-24. Epub 2015 Mar 7 doi: 10.1016/j.cpr.2015.02.010. PMID: 25779460

Diagnosis

Huang MH, Kuan YH, Tu PC, Chang WC, Chan YE, Su TP
J Affect Disord 2023 Jul 15;333:10-17. Epub 2023 Apr 18 doi: 10.1016/j.jad.2023.04.050. PMID: 37080490
Li Y, Li G, Liu L, Wu H
J Behav Addict 2020 Oct 12;9(3):551-571. Epub 2020 Sep 8 doi: 10.1556/2006.2020.00057. PMID: 32903205Free PMC Article
Berey BL, Leeman RF, Chavarria J, King AC
Psychol Addict Behav 2019 Nov;33(7):616-625. Epub 2019 Sep 9 doi: 10.1037/adb0000512. PMID: 31497988Free PMC Article
Voon V, Dalley JW
Curr Top Behav Neurosci 2016;28:53-91. doi: 10.1007/7854_2015_5013. PMID: 27418067
Evenden JL
Psychopharmacology (Berl) 1999 Oct;146(4):348-61. doi: 10.1007/pl00005481. PMID: 10550486

Therapy

Castells X, Blanco-Silvente L, Cunill R
Cochrane Database Syst Rev 2018 Aug 9;8(8):CD007813. doi: 10.1002/14651858.CD007813.pub3. PMID: 30091808Free PMC Article
Lopez PL, Torrente FM, Ciapponi A, Lischinsky AG, Cetkovich-Bakmas M, Rojas JI, Romano M, Manes FF
Cochrane Database Syst Rev 2018 Mar 23;3(3):CD010840. doi: 10.1002/14651858.CD010840.pub2. PMID: 29566425Free PMC Article
Tang YY, Tang R, Posner MI
Drug Alcohol Depend 2016 Jun 1;163 Suppl 1:S13-8. doi: 10.1016/j.drugalcdep.2015.11.041. PMID: 27306725
Cerrillo-Urbina AJ, García-Hermoso A, Sánchez-López M, Pardo-Guijarro MJ, Santos Gómez JL, Martínez-Vizcaíno V
Child Care Health Dev 2015 Nov;41(6):779-88. Epub 2015 May 18 doi: 10.1111/cch.12255. PMID: 25988743
Zwi M, Jones H, Thorgaard C, York A, Dennis JA
Cochrane Database Syst Rev 2011 Dec 7;2011(12):CD003018. doi: 10.1002/14651858.CD003018.pub3. PMID: 22161373Free PMC Article

Prognosis

Stamates AL, Linden-Carmichael AN, Miller SE, Feldstein Ewing SW
Exp Clin Psychopharmacol 2023 Jun;31(3):599-604. Epub 2022 Sep 29 doi: 10.1037/pha0000608. PMID: 36174142Free PMC Article
Cohen SCL, Harvey DJ, Shields RH, Shields GS, Rashedi RN, Tancredi DJ, Angkustsiri K, Hansen RL, Schweitzer JB
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O'Neill S, Rajendran K, Mahbubani SM, Halperin JM
Curr Psychiatry Rep 2017 Oct 30;19(12):95. doi: 10.1007/s11920-017-0853-z. PMID: 29082443Free PMC Article
Cooper RE, Williams E, Seegobin S, Tye C, Kuntsi J, Asherson P
Eur Neuropsychopharmacol 2017 Aug;27(8):795-808. Epub 2017 May 30 doi: 10.1016/j.euroneuro.2017.05.005. PMID: 28576350
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Clinical prediction guides

Agtas-Ertan E, Dogan O, Ilhan I
Alcohol Alcohol 2023 Sep 9;58(5):497-504. doi: 10.1093/alcalc/agad032. PMID: 37154613
Huang MH, Kuan YH, Tu PC, Chang WC, Chan YE, Su TP
J Affect Disord 2023 Jul 15;333:10-17. Epub 2023 Apr 18 doi: 10.1016/j.jad.2023.04.050. PMID: 37080490
Luba R, Carpenter KM, Evans SM, Slonim J, Foltin RW
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Barker ED, Ing A, Biondo F, Jia T, Pingault JB, Du Rietz E, Zhang Y, Ruggeri B, Banaschewski T, Hohmann S, Bokde ALW, Bromberg U, Büchel C, Quinlan EB, Sounga-Barke E, Bowling AB, Desrivières S, Flor H, Frouin V, Garavan H, Asherson P, Gowland P, Heinz A, Ittermann B, Martinot JL, Martinot MP, Nees F, Papadopoulos-Orfanos D, Poustka L, Smolka MN, Vetter NC, Walter H, Whelan R, Schumann G; IMAGEN Consortium
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Recent systematic reviews

Salari N, Ghasemi H, Abdoli N, Rahmani A, Shiri MH, Hashemian AH, Akbari H, Mohammadi M
Ital J Pediatr 2023 Apr 20;49(1):48. doi: 10.1186/s13052-023-01456-1. PMID: 37081447Free PMC Article
Tahir T, Wong MM, Maaz M, Naufal R, Tahir R, Naidoo Y
Psychiatry Res 2022 May;311:114499. Epub 2022 Mar 7 doi: 10.1016/j.psychres.2022.114499. PMID: 35305343
Nawi AM, Ismail R, Ibrahim F, Hassan MR, Manaf MRA, Amit N, Ibrahim N, Shafurdin NS
BMC Public Health 2021 Nov 13;21(1):2088. doi: 10.1186/s12889-021-11906-2. PMID: 34774013Free PMC Article
Li Y, Li G, Liu L, Wu H
J Behav Addict 2020 Oct 12;9(3):551-571. Epub 2020 Sep 8 doi: 10.1556/2006.2020.00057. PMID: 32903205Free PMC Article
Sayal K, Prasad V, Daley D, Ford T, Coghill D
Lancet Psychiatry 2018 Feb;5(2):175-186. Epub 2017 Oct 9 doi: 10.1016/S2215-0366(17)30167-0. PMID: 29033005

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