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Abnormal affect

MedGen UID:
1056192
•Concept ID:
CN378842
•
Finding
HPO: HP:0025766

Definition

An anomaly in intensity, frequency, or duration of the verbal or behavioral expression of emotions, feelings, or thoughts. [from HPO]

Professional guidelines

PubMed

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria.
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Nonobstetric Surgery During Pregnancy.
Tolcher MC, Fisher WE, Clark SL
Obstet Gynecol 2018 Aug;132(2):395-403. doi: 10.1097/AOG.0000000000002748. PMID: 29995718
Birth defects and assisted reproductive technologies.
Simpson JL
Semin Fetal Neonatal Med 2014 Jun;19(3):177-82. Epub 2014 Feb 20 doi: 10.1016/j.siny.2014.01.001. PMID: 24559658
Mosaic RASopathies.
Hafner C, Groesser L
Cell Cycle 2013 Jan 1;12(1):43-50. Epub 2012 Dec 19 doi: 10.4161/cc.23108. PMID: 23255105Free PMC Article
Familial renal adysplasia.
Murugasu B, Cole BR, Hawkins EP, Blanton SH, Conley SB, Portman RJ
Am J Kidney Dis 1991 Oct;18(4):490-4. doi: 10.1016/s0272-6386(12)80118-1. PMID: 1928068

Diagnosis

A Review of Mullerian Anomalies and Their Urologic Associations.
Wu CQ, Childress KJ, Traore EJ, Smith EA
Urology 2021 May;151:98-106. Epub 2020 May 6 doi: 10.1016/j.urology.2020.04.088. PMID: 32387292
Nonobstetric Surgery During Pregnancy.
Tolcher MC, Fisher WE, Clark SL
Obstet Gynecol 2018 Aug;132(2):395-403. doi: 10.1097/AOG.0000000000002748. PMID: 29995718
Frontal congenital lipoma.
Carranza-Romero C, Armario-Hita JC, Fernandez-Vozmediano JM
Pediatr Dermatol 2012 Jul-Aug;29(4):490-4. Epub 2011 Sep 9 doi: 10.1111/j.1525-1470.2011.01526.x. PMID: 21906151
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article
Fetal imaging.
Hubbard AM, Simon EM
Magn Reson Imaging Clin N Am 2002 May;10(2):389-408. doi: 10.1016/s1064-9689(01)00003-4. PMID: 12424952

Therapy

Red Blood Cell Transfusion: 2023 AABB International Guidelines.
Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153
Animal Models of CMT2A: State-of-art and Therapeutic Implications.
De Gioia R, Citterio G, Abati E, Nizzardo M, Bresolin N, Comi GP, Corti S, Rizzo F
Mol Neurobiol 2020 Dec;57(12):5121-5129. Epub 2020 Aug 27 doi: 10.1007/s12035-020-02081-3. PMID: 32856204Free PMC Article
Addressing Obesity in Clinical Gynecology Practice.
Kahan S, Winston G
Clin Obstet Gynecol 2018 Mar;61(1):10-26. doi: 10.1097/GRF.0000000000000334. PMID: 29309285
Bleeding Disorders in Congenital Syndromes.
Sarangi SN, Acharya SS
Pediatrics 2017 Feb;139(2) Epub 2017 Jan 6 doi: 10.1542/peds.2015-4360. PMID: 28062601
Birth defects and assisted reproductive technologies.
Simpson JL
Semin Fetal Neonatal Med 2014 Jun;19(3):177-82. Epub 2014 Feb 20 doi: 10.1016/j.siny.2014.01.001. PMID: 24559658

Prognosis

Neonatal palliative care.
Parravicini E
Curr Opin Pediatr 2017 Apr;29(2):135-140. doi: 10.1097/MOP.0000000000000464. PMID: 28092282
Aneurysms of the fetal heart.
Weichert J, Axt-Fliedner R
Ultraschall Med 2011 Feb;32(1):26-32. Epub 2010 Apr 20 doi: 10.1055/s-0028-1110007. PMID: 20408114
Cryptorchidism.
Hutson JM, Balic A, Nation T, Southwell B
Semin Pediatr Surg 2010 Aug;19(3):215-24. doi: 10.1053/j.sempedsurg.2010.04.001. PMID: 20610195
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192
CANADIAN THALIDOMIDE EXPERIENCE.
WEBB JF
Can Med Assoc J 1963 Nov 9;89(19):987-92. PMID: 14076167Free PMC Article

Clinical prediction guides

Cardiac imaging in Ebstein anomaly.
Qureshi MY, O'Leary PW, Connolly HM
Trends Cardiovasc Med 2018 Aug;28(6):403-409. Epub 2018 Jan 12 doi: 10.1016/j.tcm.2018.01.002. PMID: 29409687
Noninvasive Multimodality Imaging in ARVD/C.
Te Riele ASJM, Tandri H, Sanborn DM, Bluemke DA
JACC Cardiovasc Imaging 2015 May;8(5):597-611. doi: 10.1016/j.jcmg.2015.02.007. PMID: 25937197Free PMC Article
Birth defects and assisted reproductive technologies.
Simpson JL
Semin Fetal Neonatal Med 2014 Jun;19(3):177-82. Epub 2014 Feb 20 doi: 10.1016/j.siny.2014.01.001. PMID: 24559658
Congenital malformations of the mitral valve.
Séguéla PE, Houyel L, Acar P
Arch Cardiovasc Dis 2011 Aug;104(8-9):465-79. Epub 2011 Aug 30 doi: 10.1016/j.acvd.2011.06.004. PMID: 21944149
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Non-invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins.
van Eekhout JCA, Bekker MN, Bax CJ, Galjaard RH
Prenat Diagn 2023 Jun;43(7):829-837. Epub 2023 May 31 doi: 10.1002/pd.6388. PMID: 37226326
The prevalence of molar-incisor hypomineralization: a systematic review and meta-analysis.
Lopes LB, Machado V, Mascarenhas P, Mendes JJ, Botelho J
Sci Rep 2021 Nov 17;11(1):22405. doi: 10.1038/s41598-021-01541-7. PMID: 34789780Free PMC Article
Efficacy of resin infiltration to mask post-orthodontic or non-post-orthodontic white spot lesions or fluorosis - a systematic review and meta-analysis.
Bourouni S, Dritsas K, Kloukos D, Wierichs RJ
Clin Oral Investig 2021 Aug;25(8):4711-4719. Epub 2021 Jun 9 doi: 10.1007/s00784-021-03931-7. PMID: 34106348Free PMC Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature.
Corrado B, Ciardi G, Bargigli C
Medicine (Baltimore) 2016 Apr;95(17):e3278. doi: 10.1097/MD.0000000000003278. PMID: 27124017Free PMC Article

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