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Psychotic episodes

MedGen UID:
90930
Concept ID:
C0338614
Mental or Behavioral Dysfunction
HPO: HP:0000725

Definition

Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. [from HPO]

Conditions with this feature

Acute intermittent porphyria
MedGen UID:
56452
Concept ID:
C0162565
Disease or Syndrome
Acute intermittent porphyria (AIP), an autosomal dominant disorder, occurs in heterozygotes for an HMBS pathogenic variant that causes reduced activity of the enzyme porphobilinogen deaminase. AIP is considered "overt" in a heterozygote who was previously or is currently symptomatic; AIP is considered "latent" in a heterozygote who has never had symptoms, and typically has been identified during molecular genetic testing of at-risk family members. Note that GeneReviews does not use the term "carrier" for an individual who is heterozygous for an autosomal dominant pathogenic variant; GeneReviews reserves the term "carrier" for an individual who is heterozygous for an autosomal recessive disorder and thus is not expected to ever develop manifestations of the disorder. Overt AIP is characterized clinically by life-threatening acute neurovisceral attacks of severe abdominal pain without peritoneal signs, often accompanied by nausea, vomiting, tachycardia, and hypertension. Attacks may be complicated by neurologic findings (mental changes, convulsions, and peripheral neuropathy that may progress to respiratory paralysis), and hyponatremia. Acute attacks, which may be provoked by certain drugs, alcoholic beverages, endocrine factors, calorie restriction, stress, and infections, usually resolve within two weeks. Most individuals with AIP have one or a few attacks; about 3%-8% (mainly women) have recurrent attacks (defined as >3 attacks/year) that may persist for years. Other long-term complications are chronic renal failure, hepatocellular carcinoma (HCC), and hypertension. Attacks, which are very rare before puberty, are more common in women than men. Latent AIP. While all individuals heterozygous for an HMBS pathogenic variant that predisposes to AIP are at risk of developing overt AIP, most have latent AIP and never have symptoms.
Lysinuric protein intolerance
MedGen UID:
75704
Concept ID:
C0268647
Disease or Syndrome
Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: poor growth, osteoporosis, involvement of the lungs (progressive interstitial changes, pulmonary alveolar proteinosis) and of the kidneys (progressive glomerular and proximal tubular disease), hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis in the bone marrow aspirate), and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Hypercholesterolemia, hypertriglyceridemia, and acute pancreatitis can also be seen.
Schizophrenia 10
MedGen UID:
107776
Concept ID:
C0543918
Mental or Behavioral Dysfunction
A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.
Kufor-Rakeb syndrome
MedGen UID:
338281
Concept ID:
C1847640
Disease or Syndrome
Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).
Autosomal recessive early-onset Parkinson disease 7
MedGen UID:
344049
Concept ID:
C1853445
Disease or Syndrome
Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.
Spinocerebellar ataxia, autosomal recessive 30
MedGen UID:
1778853
Concept ID:
C5543620
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-30 (SCAR30) is a progressive neurologic disorder characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities, such as obsessive behavior, psychotic episodes, or hallucinations. Brain imaging usually shows cerebellar atrophy, although this may be an age-dependent feature (summary by Langer et al., 2018).

Professional guidelines

PubMed

Bassett D, Boyce P, Lyndon B, Mulder R, Parker G, Porter R, Singh A, Bell E, Hamilton A, Morris G, Malhi GS
Schizophr Res 2022 Mar;241:187-196. Epub 2022 Feb 6 doi: 10.1016/j.schres.2022.01.047. PMID: 35139458
Fusar-Poli P, Salazar de Pablo G, Rajkumar RP, López-Díaz Á, Malhotra S, Heckers S, Lawrie SM, Pillmann F
Lancet Psychiatry 2022 Jan;9(1):72-83. Epub 2021 Nov 29 doi: 10.1016/S2215-0366(21)00121-8. PMID: 34856200
Endres D, Leypoldt F, Bechter K, Hasan A, Steiner J, Domschke K, Wandinger KP, Falkai P, Arolt V, Stich O, Rauer S, Prüss H, van Elst LT
Eur Arch Psychiatry Clin Neurosci 2020 Oct;270(7):803-818. Epub 2020 Mar 12 doi: 10.1007/s00406-020-01113-2. PMID: 32166503Free PMC Article

Recent clinical studies

Etiology

Baldaçara L, Ramos A, Castaldelli-Maia JM
Int Rev Psychiatry 2023 Aug-Sep;35(5-6):496-502. Epub 2024 Feb 1 doi: 10.1080/09540261.2023.2261544. PMID: 38299647
Bassett D, Boyce P, Lyndon B, Mulder R, Parker G, Porter R, Singh A, Bell E, Hamilton A, Morris G, Malhi GS
Schizophr Res 2022 Mar;241:187-196. Epub 2022 Feb 6 doi: 10.1016/j.schres.2022.01.047. PMID: 35139458
Fusar-Poli P, Salazar de Pablo G, Rajkumar RP, López-Díaz Á, Malhotra S, Heckers S, Lawrie SM, Pillmann F
Lancet Psychiatry 2022 Jan;9(1):72-83. Epub 2021 Nov 29 doi: 10.1016/S2215-0366(21)00121-8. PMID: 34856200
Ortiz-Medina MB, Perea M, Torales J, Ventriglio A, Vitrani G, Aguilar L, Roncero C
Int J Soc Psychiatry 2018 Nov;64(7):690-704. doi: 10.1177/0020764018801690. PMID: 30442059
Strkalj Ivezić S, John N
Psychiatr Danub 2009 Sep;21 Suppl 1:106-10. PMID: 19789493

Diagnosis

Baldaçara L, Ramos A, Castaldelli-Maia JM
Int Rev Psychiatry 2023 Aug-Sep;35(5-6):496-502. Epub 2024 Feb 1 doi: 10.1080/09540261.2023.2261544. PMID: 38299647
Leichsenring F, Heim N, Leweke F, Spitzer C, Steinert C, Kernberg OF
JAMA 2023 Feb 28;329(8):670-679. doi: 10.1001/jama.2023.0589. PMID: 36853245
Bassett D, Boyce P, Lyndon B, Mulder R, Parker G, Porter R, Singh A, Bell E, Hamilton A, Morris G, Malhi GS
Schizophr Res 2022 Mar;241:187-196. Epub 2022 Feb 6 doi: 10.1016/j.schres.2022.01.047. PMID: 35139458
Fusar-Poli P, Salazar de Pablo G, Rajkumar RP, López-Díaz Á, Malhotra S, Heckers S, Lawrie SM, Pillmann F
Lancet Psychiatry 2022 Jan;9(1):72-83. Epub 2021 Nov 29 doi: 10.1016/S2215-0366(21)00121-8. PMID: 34856200
Endres D, Leypoldt F, Bechter K, Hasan A, Steiner J, Domschke K, Wandinger KP, Falkai P, Arolt V, Stich O, Rauer S, Prüss H, van Elst LT
Eur Arch Psychiatry Clin Neurosci 2020 Oct;270(7):803-818. Epub 2020 Mar 12 doi: 10.1007/s00406-020-01113-2. PMID: 32166503Free PMC Article

Therapy

Montastruc F, Taillefer de Laportaliere T
Therapie 2024 Mar-Apr;79(2):173-179. Epub 2023 Oct 31 doi: 10.1016/j.therap.2023.09.007. PMID: 37957053
Baldaçara L, Ramos A, Castaldelli-Maia JM
Int Rev Psychiatry 2023 Aug-Sep;35(5-6):496-502. Epub 2024 Feb 1 doi: 10.1080/09540261.2023.2261544. PMID: 38299647
Palma-Alvarez RF, Duque-Yemail J, Ros-Cucurull E, Robles-Martínez M, Perea-Ortueta M, Grau-López L, Ramos-Quiroga JA
Actas Esp Psiquiatr 2020 May;48(3):126-37. Epub 2020 May 1 PMID: 32905605
Teodorescu A, Dima L, Popa MA, Moga MA, Bîgiu NF, Ifteni P
Am J Ther 2020 Jun 22;28(3):e341-e348. doi: 10.1097/MJT.0000000000001218. PMID: 32618591
Allen RM, Young SJ
Am J Psychiatry 1978 Sep;135(9):1081-4. doi: 10.1176/ajp.135.9.1081. PMID: 696930

Prognosis

Fusar-Poli P, Salazar de Pablo G, Rajkumar RP, López-Díaz Á, Malhotra S, Heckers S, Lawrie SM, Pillmann F
Lancet Psychiatry 2022 Jan;9(1):72-83. Epub 2021 Nov 29 doi: 10.1016/S2215-0366(21)00121-8. PMID: 34856200
Provenzani U, Salazar de Pablo G, Arribas M, Pillmann F, Fusar-Poli P
Epidemiol Psychiatr Sci 2021 Nov 4;30:e71. doi: 10.1017/S2045796021000548. PMID: 35698876Free PMC Article
Salvatore P, Baldessarini RJ, Khalsa HK, Tohen M
J Affect Disord 2021 Dec 1;295:1251-1258. Epub 2021 Sep 4 doi: 10.1016/j.jad.2021.08.099. PMID: 34706439
Palma-Álvarez RF, Soriano-Dia A, Ros-Cucurull E, Daigre C, Serrano-Pérez P, Ortega-Hernández G, Perea-Ortueta M, Gurrea Salas D, Ramos-Quiroga JA, Grau-López L
J Dual Diagn 2021 Apr-Jun;17(2):159-171. Epub 2021 Apr 26 doi: 10.1080/15504263.2021.1904163. PMID: 33902405
Endres D, Leypoldt F, Bechter K, Hasan A, Steiner J, Domschke K, Wandinger KP, Falkai P, Arolt V, Stich O, Rauer S, Prüss H, van Elst LT
Eur Arch Psychiatry Clin Neurosci 2020 Oct;270(7):803-818. Epub 2020 Mar 12 doi: 10.1007/s00406-020-01113-2. PMID: 32166503Free PMC Article

Clinical prediction guides

Leichsenring F, Heim N, Leweke F, Spitzer C, Steinert C, Kernberg OF
JAMA 2023 Feb 28;329(8):670-679. doi: 10.1001/jama.2023.0589. PMID: 36853245
Provenzani U, Salazar de Pablo G, Arribas M, Pillmann F, Fusar-Poli P
Epidemiol Psychiatr Sci 2021 Nov 4;30:e71. doi: 10.1017/S2045796021000548. PMID: 35698876Free PMC Article
Teodorescu A, Dima L, Popa MA, Moga MA, Bîgiu NF, Ifteni P
Am J Ther 2020 Jun 22;28(3):e341-e348. doi: 10.1097/MJT.0000000000001218. PMID: 32618591
Endres D, Leypoldt F, Bechter K, Hasan A, Steiner J, Domschke K, Wandinger KP, Falkai P, Arolt V, Stich O, Rauer S, Prüss H, van Elst LT
Eur Arch Psychiatry Clin Neurosci 2020 Oct;270(7):803-818. Epub 2020 Mar 12 doi: 10.1007/s00406-020-01113-2. PMID: 32166503Free PMC Article
Strkalj Ivezić S, John N
Psychiatr Danub 2009 Sep;21 Suppl 1:106-10. PMID: 19789493

Recent systematic reviews

Smyth E, Steel C, Ellett L
Schizophr Res 2023 Oct;260:99-112. Epub 2023 Aug 25 doi: 10.1016/j.schres.2023.08.011. PMID: 37634388
Provenzani U, Salazar de Pablo G, Arribas M, Pillmann F, Fusar-Poli P
Epidemiol Psychiatr Sci 2021 Nov 4;30:e71. doi: 10.1017/S2045796021000548. PMID: 35698876Free PMC Article
Siddi S, Petretto DR, Preti A
Cogn Neuropsychiatry 2017 May;22(3):186-212. Epub 2017 Mar 13 doi: 10.1080/13546805.2017.1299702. PMID: 28288547
Magalhães PV, Dean O, Andreazza AC, Berk M, Kapczinski F
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008919. doi: 10.1002/14651858.CD008919.pub2. PMID: 26848926Free PMC Article
Essali A, Alabed S, Guul A, Essali N
Cochrane Database Syst Rev 2013 Jun 6;(6):CD009991. doi: 10.1002/14651858.CD009991.pub2. PMID: 23740790

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