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Neurodevelopmental abnormality

MedGen UID:
868343
Concept ID:
C4022737
Pathologic Function
HPO: HP:0012759

Definition

A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. [from HPO]

Term Hierarchy

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

Conditions with this feature

Autosomal dominant nocturnal frontal lobe epilepsy 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.
Seizures, benign familial infantile, 3
MedGen UID:
375105
Concept ID:
C1843140
Disease or Syndrome
Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).
Seizures, benign familial infantile, 2
MedGen UID:
381313
Concept ID:
C1853995
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Infantile convulsions and choreoathetosis
MedGen UID:
356123
Concept ID:
C1865926
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Mitochondrial complex III deficiency nuclear type 3
MedGen UID:
767520
Concept ID:
C3554606
Disease or Syndrome
Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.\n\nMitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.\n\nThe severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. \n\nMost people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
MedGen UID:
863730
Concept ID:
C4015293
Disease or Syndrome
IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015).
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).
Benign familial neonatal-infantile seizures 1
MedGen UID:
1638448
Concept ID:
C4551769
Disease or Syndrome
Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21.

Professional guidelines

PubMed

Canpolat M, Per H, Gumus H, Elmali F, Kumandas S
Seizure 2018 Feb;55:36-47. Epub 2018 Jan 10 doi: 10.1016/j.seizure.2018.01.007. PMID: 29353090
Chan RC, Xie W, Geng FL, Wang Y, Lui SS, Wang CY, Yu X, Cheung EF, Rosenthal R
Schizophr Bull 2016 May;42(3):560-70. Epub 2015 Dec 28 doi: 10.1093/schbul/sbv196. PMID: 26712863Free PMC Article

Recent clinical studies

Etiology

Takahashi T, Sasabayashi D, Takayanagi Y, Furuichi A, Kobayashi H, Yuasa Y, Noguchi K, Suzuki M
Schizophr Res 2023 Oct;260:23-29. Epub 2023 Aug 7 doi: 10.1016/j.schres.2023.07.032. PMID: 37549494
Noda M, Yoshida S, Mishina H, Matsubayashi K, Kawakami K
J Dev Orig Health Dis 2021 Jun;12(3):428-435. Epub 2020 Jun 18 doi: 10.1017/S2040174420000586. PMID: 32624083
Huang AS, Rogers BP, Sheffield JM, Jalbrzikowski ME, Anticevic A, Blackford JU, Heckers S, Woodward ND
Am J Psychiatry 2020 Dec 1;177(12):1159-1167. Epub 2020 Sep 11 doi: 10.1176/appi.ajp.2020.19101099. PMID: 32911995Free PMC Article
Lipitz S, Elkan Miller T, Yinon Y, Weissbach T, De-Castro H, Hoffman C, Katorza E, Weisz B
Ultrasound Obstet Gynecol 2020 Oct;56(4):572-578. doi: 10.1002/uog.21946. PMID: 31858642
Chen LH, Wilson ME
Curr Opin Infect Dis 2019 Oct;32(5):381-389. doi: 10.1097/QCO.0000000000000575. PMID: 31305494

Diagnosis

Takahashi T, Sasabayashi D, Takayanagi Y, Furuichi A, Kobayashi H, Yuasa Y, Noguchi K, Suzuki M
Schizophr Res 2023 Oct;260:23-29. Epub 2023 Aug 7 doi: 10.1016/j.schres.2023.07.032. PMID: 37549494
Dudakova L, Tuft S, Cheong SS, Skalicka P, Jedlickova J, Fichtl M, Hlozanek M, Filous A, Vaneckova M, Vincent AL, Hardcastle AJ, Davidson AE, Liskova P
Acta Ophthalmol 2022 Jun;100(4):431-439. Epub 2021 Oct 13 doi: 10.1111/aos.15022. PMID: 34644435
Levi DM
Handb Clin Neurol 2021;178:13-30. doi: 10.1016/B978-0-12-821377-3.00002-7. PMID: 33832673
Bora E
Psychol Med 2018 Feb;48(3):353-361. Epub 2017 Aug 11 doi: 10.1017/S0033291717002045. PMID: 28799518
Saldir M, Sarici SU, Bakar EE, Ozcan O
Am J Perinatol 2010 Feb;27(2):121-8. Epub 2009 Jun 5 doi: 10.1055/s-0029-1224863. PMID: 19504426

Therapy

Saldir M, Sarici SU, Bakar EE, Ozcan O
Am J Perinatol 2010 Feb;27(2):121-8. Epub 2009 Jun 5 doi: 10.1055/s-0029-1224863. PMID: 19504426
Hosono S, Ohno T, Kimoto H, Shimizu M, Takahashi S, Harada K
Pediatr Int 2009 Feb;51(1):79-83. doi: 10.1111/j.1442-200X.2008.02664.x. PMID: 19371283
Fallon P, Aparício JM, Elliott MJ, Kirkham FJ
Arch Dis Child 1995 May;72(5):418-22. doi: 10.1136/adc.72.5.418. PMID: 7618908Free PMC Article
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Clin Radiol 1991 Jan;43(1):39-41. doi: 10.1016/s0009-9260(05)80352-6. PMID: 1999070
Youssef HA, Waddington JL
Biol Psychiatry 1988 Apr 15;23(8):791-6. doi: 10.1016/0006-3223(88)90067-4. PMID: 2896519

Prognosis

Okuyama H, Tazuke Y, Uenoa T, Yamanaka H, Takama Y, Saka R, Nara K, Usui N
Surg Today 2017 Jul;47(7):872-876. Epub 2016 Dec 27 doi: 10.1007/s00595-016-1462-x. PMID: 28028638
Bora E
Psychol Med 2015 Jan;45(1):1-9. Epub 2014 May 30 doi: 10.1017/S0033291714001263. PMID: 25065902
Saldir M, Sarici SU, Bakar EE, Ozcan O
Am J Perinatol 2010 Feb;27(2):121-8. Epub 2009 Jun 5 doi: 10.1055/s-0029-1224863. PMID: 19504426
Farrant B, Battin M, Roberts A
N Z Med J 2001 Sep 14;114(1139):400-3. PMID: 11665927
Ashe PC, Berry MD, Boulton AA
Prog Neuropsychopharmacol Biol Psychiatry 2001 May;25(4):691-707. doi: 10.1016/s0278-5846(01)00159-2. PMID: 11383973

Clinical prediction guides

Yang Y, Sun Y, Zhang Y, Jin X, Li Z, Ding M, Shi H, Liu Q, Zhang L, Su X, Shao M, Song M, Zhang Y, Li W, Yue W, Liu B, Lv L
Neuroimage Clin 2022;36:103198. Epub 2022 Sep 14 doi: 10.1016/j.nicl.2022.103198. PMID: 36116163Free PMC Article
Bora E
Psychol Med 2015 Jan;45(1):1-9. Epub 2014 May 30 doi: 10.1017/S0033291714001263. PMID: 25065902
Saldir M, Sarici SU, Bakar EE, Ozcan O
Am J Perinatol 2010 Feb;27(2):121-8. Epub 2009 Jun 5 doi: 10.1055/s-0029-1224863. PMID: 19504426
Farrant B, Battin M, Roberts A
N Z Med J 2001 Sep 14;114(1139):400-3. PMID: 11665927
Molteno CD, Thompson MC, Buccimazza SS, Magasiner V, Hann FM
S Afr Med J 1999 Oct;89(10):1084-7. PMID: 10582065

Recent systematic reviews

Beraldi GH, Prado KS, Amann BL, Radua J, Friedman L, Elkis H
Eur Neuropsychopharmacol 2018 Dec;28(12):1325-1338. Epub 2018 Nov 22 doi: 10.1016/j.euroneuro.2018.10.001. PMID: 30472163

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