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Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures(NEDBAS)

MedGen UID:
1684757
Concept ID:
C5231470
Disease or Syndrome
Synonyms: NEDBAS; NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
 
Gene (location): DLL1 (6q27)
 
Monarch Initiative: MONDO:0032877
OMIM®: 618709

Definition

Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019). [from OMIM]

Clinical features

From HPO
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).
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Cortical dysplasia
MedGen UID:
98129
Concept ID:
C0431380
Congenital Abnormality
The presence of developmental dysplasia of the cerebral cortex.
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.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
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\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\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.
Abnormality of neuronal migration
MedGen UID:
324748
Concept ID:
C1837249
Congenital Abnormality
An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
Abnormal corpus callosum morphology
MedGen UID:
334198
Concept ID:
C1842581
Anatomical Abnormality
Abnormality of the corpus callosum.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
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.
Abnormal brain morphology
MedGen UID:
866738
Concept ID:
C4021085
Anatomical Abnormality
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
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.
Abnormal vertebral morphology
MedGen UID:
371742
Concept ID:
C1834129
Anatomical Abnormality
An abnormality of one or more of the vertebrae.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.

Professional guidelines

PubMed

Charalambous M, Muñana K, Patterson EE, Platt SR, Volk HA
J Vet Intern Med 2024 Jan-Feb;38(1):19-40. Epub 2023 Nov 3 doi: 10.1111/jvim.16928. PMID: 37921621Free PMC Article
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Abboud H, Probasco JC, Irani S, Ances B, Benavides DR, Bradshaw M, Christo PP, Dale RC, Fernandez-Fournier M, Flanagan EP, Gadoth A, George P, Grebenciucova E, Jammoul A, Lee ST, Li Y, Matiello M, Morse AM, Rae-Grant A, Rojas G, Rossman I, Schmitt S, Venkatesan A, Vernino S, Pittock SJ, Titulaer MJ; Autoimmune Encephalitis Alliance Clinicians Network
J Neurol Neurosurg Psychiatry 2021 Jul;92(7):757-768. Epub 2021 Mar 1 doi: 10.1136/jnnp-2020-325300. PMID: 33649022Free PMC Article

Recent clinical studies

Etiology

Jiménez-Villegas MJ, Lozano-García L, Carrizosa-Moog J
Seizure 2021 Aug;90:28-33. Epub 2021 Mar 30 doi: 10.1016/j.seizure.2021.03.027. PMID: 33840584
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Shellhaas RA
Handb Clin Neurol 2019;162:347-361. doi: 10.1016/B978-0-444-64029-1.00017-5. PMID: 31324320
Patterson JL, Carapetian SA, Hageman JR, Kelley KR
Pediatr Ann 2013 Dec;42(12):249-54. doi: 10.3928/00904481-20131122-09. PMID: 24295158
Østergaard JR
Acta Paediatr 2009 May;98(5):771-3. doi: 10.1111/j.1651-2227.2009.01200.x. PMID: 19389119

Diagnosis

Mauritz M, Hirsch LJ, Camfield P, Chin R, Nardone R, Lattanzi S, Trinka E
Epileptic Disord 2022 Feb 1;24(1):26-49. doi: 10.1684/epd.2021.1376. PMID: 34789447
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Johnson EL
Med Clin North Am 2019 Mar;103(2):309-324. Epub 2018 Dec 3 doi: 10.1016/j.mcna.2018.10.002. PMID: 30704683
Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE
Mol Diagn Ther 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. PMID: 30039193Free PMC Article
Patterson JL, Carapetian SA, Hageman JR, Kelley KR
Pediatr Ann 2013 Dec;42(12):249-54. doi: 10.3928/00904481-20131122-09. PMID: 24295158

Therapy

Jain P, Aneja S, Cunningham J, Arya R, Sharma S
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Peter-Derex L, Philippeau F, Garnier P, André-Obadia N, Boulogne S, Catenoix H, Convers P, Mazzola L, Gouttard M, Esteban M, Fontaine J, Mechtouff L, Ong E, Cho TH, Nighoghossian N, Perreton N, Termoz A, Haesebaert J, Schott AM, Rabilloud M, Pivot C, Dhelens C, Filip A, Berthezène Y, Rheims S, Boutitie F, Derex L
Lancet Neurol 2022 Sep;21(9):781-791. doi: 10.1016/S1474-4422(22)00235-6. PMID: 35963261
Ziobro JM, Eschbach K, Shellhaas RA
Neurotherapeutics 2021 Jul;18(3):1564-1581. Epub 2021 Aug 12 doi: 10.1007/s13311-021-01085-8. PMID: 34386906Free PMC Article
von Wrede R, Helmstaedter C, Surges R
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Trinka E, Kälviäinen R
Seizure 2017 Jan;44:65-73. Epub 2016 Nov 14 doi: 10.1016/j.seizure.2016.11.001. PMID: 27890484

Prognosis

Salanova V, Sperling MR, Gross RE, Irwin CP, Vollhaber JA, Giftakis JE, Fisher RS; SANTÉ Study Group
Epilepsia 2021 Jun;62(6):1306-1317. Epub 2021 Apr 8 doi: 10.1111/epi.16895. PMID: 33830503
Sartori S, Nosadini M, Tessarin G, Boniver C, Frigo AC, Toldo I, Bressan S, Da Dalt L
Dev Med Child Neurol 2019 Jan;61(1):82-90. Epub 2018 Sep 7 doi: 10.1111/dmcn.14015. PMID: 30191957
Patterson JL, Carapetian SA, Hageman JR, Kelley KR
Pediatr Ann 2013 Dec;42(12):249-54. doi: 10.3928/00904481-20131122-09. PMID: 24295158
Judge BS, Rentmeester LL
Psychiatr Clin North Am 2013 Jun;36(2):245-60. Epub 2013 Apr 11 doi: 10.1016/j.psc.2013.02.004. PMID: 23688690
Rennie JM
Eur J Pediatr 1997 Feb;156(2):83-7. doi: 10.1007/s004310050559. PMID: 9039506

Clinical prediction guides

Baud MO, Proix T, Rao VR, Schindler K
Curr Opin Neurol 2020 Apr;33(2):163-172. doi: 10.1097/WCO.0000000000000798. PMID: 32049738
Rosas-Romero R, Guevara E, Peng K, Nguyen DK, Lesage F, Pouliot P, Lima-Saad WE
Comput Biol Med 2019 Aug;111:103355. Epub 2019 Jul 10 doi: 10.1016/j.compbiomed.2019.103355. PMID: 31323603
Xu MY
Stroke Vasc Neurol 2019 Mar;4(1):48-56. Epub 2018 Dec 9 doi: 10.1136/svn-2018-000175. PMID: 31105979Free PMC Article
Acharya UR, Hagiwara Y, Adeli H
Epilepsy Behav 2018 Nov;88:251-261. Epub 2018 Oct 11 doi: 10.1016/j.yebeh.2018.09.030. PMID: 30317059
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Recent systematic reviews

Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
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Seizure 2022 Nov;102:74-82. Epub 2022 Sep 26 doi: 10.1016/j.seizure.2022.09.017. PMID: 36209676
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337
Mewasingh LD
BMJ Clin Evid 2014 Jan 31;2014 PMID: 24484859Free PMC Article
Beghi E, Carpio A, Forsgren L, Hesdorffer DC, Malmgren K, Sander JW, Tomson T, Hauser WA
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