U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cognitive impairment with or without cerebellar ataxia(CIAT)

MedGen UID:
482045
Concept ID:
C3280415
Disease or Syndrome
Synonym: CIAT
 
Gene (location): SCN8A (12q13.13)
 
Monarch Initiative: MONDO:0013680
OMIM®: 614306

Disease characteristics

SCN8A-related epilepsy and/or neurodevelopmental disorders encompasses a spectrum of phenotypes. Epilepsy phenotypes include developmental and epileptic encephalopathy (DEE) associated with severe developmental delays and usually pharmacoresistant epilepsy with multiple seizure types; mild-to-moderate developmental and epileptic encephalopathy (mild/modDEE, or intermediate epilepsy) with partially treatable epilepsy; self-limited familial infantile epilepsy (SeLFIE, also known as benign familial infantile epilepsy or BFIE) with normal cognition and medically treatable seizures; neurodevelopmental delays with generalized epilepsy (NDDwGE); and neurodevelopmental disorder without epilepsy (NDDwoE) with mild-to-moderate intellectual disability (though it can be severe in ~10% of affected individuals). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common in some phenotypes. Sudden unexpected death in epilepsy (SUDEP) has been reported in some affected individuals. [from GeneReviews]
Authors:
Michael F Hammer  |  Maya Xia  |  John M Schreiber   view full author information

Clinical features

From HPO
Intellectual disability, borderline
MedGen UID:
507499
Concept ID:
C0006009
Finding
Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Severe temper tantrums
MedGen UID:
1370486
Concept ID:
C4476627
Mental or Behavioral Dysfunction
Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Esophoria
MedGen UID:
57753
Concept ID:
C0152216
Disease or Syndrome
A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.
Optic nerve hypoplasia
MedGen UID:
137901
Concept ID:
C0338502
Disease or Syndrome
Underdevelopment of the optic nerve.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Professional guidelines

PubMed

Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP Jr, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK
BMC Neurol 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. PMID: 38233770Free PMC Article

Recent clinical studies

Etiology

Huang YY, Chen SD, Leng XY, Kuo K, Wang ZT, Cui M, Tan L, Wang K, Dong Q, Yu JT
J Alzheimers Dis 2022;86(3):983-999. doi: 10.3233/JAD-215644. PMID: 35147548
Morley JE
Clin Geriatr Med 2018 Nov;34(4):505-513. Epub 2018 Aug 21 doi: 10.1016/j.cger.2018.06.003. PMID: 30336985
Jongsiriyanyong S, Limpawattana P
Am J Alzheimers Dis Other Demen 2018 Dec;33(8):500-507. Epub 2018 Aug 1 doi: 10.1177/1533317518791401. PMID: 30068225Free PMC Article
Petersen RC, Lopez O, Armstrong MJ, Getchius TSD, Ganguli M, Gloss D, Gronseth GS, Marson D, Pringsheim T, Day GS, Sager M, Stevens J, Rae-Grant A
Neurology 2018 Jan 16;90(3):126-135. Epub 2017 Dec 27 doi: 10.1212/WNL.0000000000004826. PMID: 29282327Free PMC Article
Langa KM, Levine DA
JAMA 2014 Dec 17;312(23):2551-61. doi: 10.1001/jama.2014.13806. PMID: 25514304Free PMC Article

Diagnosis

Pérez Palmer N, Trejo Ortega B, Joshi P
Psychiatr Clin North Am 2022 Dec;45(4):639-661. Epub 2022 Oct 14 doi: 10.1016/j.psc.2022.07.010. PMID: 36396270
Benedict RHB, Amato MP, DeLuca J, Geurts JJG
Lancet Neurol 2020 Oct;19(10):860-871. Epub 2020 Sep 16 doi: 10.1016/S1474-4422(20)30277-5. PMID: 32949546Free PMC Article
Jongsiriyanyong S, Limpawattana P
Am J Alzheimers Dis Other Demen 2018 Dec;33(8):500-507. Epub 2018 Aug 1 doi: 10.1177/1533317518791401. PMID: 30068225Free PMC Article
Petersen RC, Lopez O, Armstrong MJ, Getchius TSD, Ganguli M, Gloss D, Gronseth GS, Marson D, Pringsheim T, Day GS, Sager M, Stevens J, Rae-Grant A
Neurology 2018 Jan 16;90(3):126-135. Epub 2017 Dec 27 doi: 10.1212/WNL.0000000000004826. PMID: 29282327Free PMC Article
Sanford AM
Clin Geriatr Med 2017 Aug;33(3):325-337. Epub 2017 May 17 doi: 10.1016/j.cger.2017.02.005. PMID: 28689566

Therapy

Anderson ND
CNS Spectr 2019 Feb;24(1):78-87. Epub 2019 Jan 17 doi: 10.1017/S1092852918001347. PMID: 30651152
Vuralli D, Ayata C, Bolay H
J Headache Pain 2018 Nov 15;19(1):109. doi: 10.1186/s10194-018-0933-4. PMID: 30442090Free PMC Article
Culpepper L, Lam RW, McIntyre RS
J Clin Psychiatry 2017 Nov/Dec;78(9):1383-1394. doi: 10.4088/JCP.tk16043ah5c. PMID: 29345866
Cannon JA, Moffitt P, Perez-Moreno AC, Walters MR, Broomfield NM, McMurray JJV, Quinn TJ
J Card Fail 2017 Jun;23(6):464-475. Epub 2017 Apr 19 doi: 10.1016/j.cardfail.2017.04.007. PMID: 28433667
Sherrington C, Michaleff ZA, Fairhall N, Paul SS, Tiedemann A, Whitney J, Cumming RG, Herbert RD, Close JCT, Lord SR
Br J Sports Med 2017 Dec;51(24):1750-1758. Epub 2016 Oct 4 doi: 10.1136/bjsports-2016-096547. PMID: 27707740

Prognosis

Fhon JRS, Silva ARF, Lima EFC, Santos Neto APD, Henao-Castaño ÁM, Fajardo-Ramos E, Püschel VAA
Int J Environ Res Public Health 2023 Feb 25;20(5) doi: 10.3390/ijerph20054156. PMID: 36901167Free PMC Article
Fong TG, Inouye SK
Nat Rev Neurol 2022 Oct;18(10):579-596. Epub 2022 Aug 26 doi: 10.1038/s41582-022-00698-7. PMID: 36028563Free PMC Article
Drew DA, Weiner DE, Sarnak MJ
Am J Kidney Dis 2019 Dec;74(6):782-790. Epub 2019 Aug 1 doi: 10.1053/j.ajkd.2019.05.017. PMID: 31378643Free PMC Article
Petersen RC, Caracciolo B, Brayne C, Gauthier S, Jelic V, Fratiglioni L
J Intern Med 2014 Mar;275(3):214-28. doi: 10.1111/joim.12190. PMID: 24605806Free PMC Article
Roberts R, Knopman DS
Clin Geriatr Med 2013 Nov;29(4):753-72. doi: 10.1016/j.cger.2013.07.003. PMID: 24094295Free PMC Article

Clinical prediction guides

Ye ZX, Bi J, Qiu LL, Chen XY, Li MC, Chen XY, Qiu YS, Yuan RY, Yu XT, Huang CY, Cheng B, Lin W, Chen WJ, Hu JP, Fu Y, Wang N, Gan SR; OSCCAR Investigators
J Neurol 2024 Feb;271(2):918-928. Epub 2023 Oct 18 doi: 10.1007/s00415-023-12042-0. PMID: 37848650
Asaoka D, Xiao J, Takeda T, Yanagisawa N, Yamazaki T, Matsubara Y, Sugiyama H, Endo N, Higa M, Kasanuki K, Ichimiya Y, Koido S, Ohno K, Bernier F, Katsumata N, Nagahara A, Arai H, Ohkusa T, Sato N
J Alzheimers Dis 2022;88(1):75-95. doi: 10.3233/JAD-220148. PMID: 35570493Free PMC Article
Ibrahim B, Suppiah S, Ibrahim N, Mohamad M, Hassan HA, Nasser NS, Saripan MI
Hum Brain Mapp 2021 Jun 15;42(9):2941-2968. Epub 2021 May 4 doi: 10.1002/hbm.25369. PMID: 33942449Free PMC Article
Xiao J, Katsumata N, Bernier F, Ohno K, Yamauchi Y, Odamaki T, Yoshikawa K, Ito K, Kaneko T
J Alzheimers Dis 2020;77(1):139-147. doi: 10.3233/JAD-200488. PMID: 32623402Free PMC Article
Ciesielska N, Sokołowski R, Mazur E, Podhorecka M, Polak-Szabela A, Kędziora-Kornatowska K
Psychiatr Pol 2016 Oct 31;50(5):1039-1052. doi: 10.12740/PP/45368. PMID: 27992895

Recent systematic reviews

Blackman J, Swirski M, Clynes J, Harding S, Leng Y, Coulthard E
J Sleep Res 2021 Aug;30(4):e13229. Epub 2020 Dec 2 doi: 10.1111/jsr.13229. PMID: 33289311Free PMC Article
Bianchi VE, Herrera PF, Laura R
Nutr Neurosci 2021 Oct;24(10):810-834. Epub 2019 Nov 4 doi: 10.1080/1028415X.2019.1681088. PMID: 31684843
Petersen RC, Lopez O, Armstrong MJ, Getchius TSD, Ganguli M, Gloss D, Gronseth GS, Marson D, Pringsheim T, Day GS, Sager M, Stevens J, Rae-Grant A
Neurology 2018 Jan 16;90(3):126-135. Epub 2017 Dec 27 doi: 10.1212/WNL.0000000000004826. PMID: 29282327Free PMC Article
Cannon JA, Moffitt P, Perez-Moreno AC, Walters MR, Broomfield NM, McMurray JJV, Quinn TJ
J Card Fail 2017 Jun;23(6):464-475. Epub 2017 Apr 19 doi: 10.1016/j.cardfail.2017.04.007. PMID: 28433667
Marquer A, Barbieri G, Pérennou D
Ann Phys Rehabil Med 2014 Mar;57(2):67-78. Epub 2014 Feb 6 doi: 10.1016/j.rehab.2014.01.002. PMID: 24582474

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...