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Abnormal affect

MedGen UID:
224856
•Concept ID:
C1291710
•
Mental or Behavioral Dysfunction
Synonym: Disturbance in affect
SNOMED CT: Disturbance in affect (386782008); Abnormal affect (416383008)
 
HPO: HP:5200261

Definition

Abnormalities in the intensity, frequency, or duration of observable and expressed emotions. [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

Gene-environment interactions in birth defect etiology: Challenges and opportunities.
Lipinski RJ, Krauss RS
Curr Top Dev Biol 2023;152:1-30. Epub 2022 Nov 14 doi: 10.1016/bs.ctdb.2022.10.001. PMID: 36707208Free PMC Article
Long-term urology outcomes of anorectal malformation.
Chong C, Hamza Y, Tan YW, Paul A, Garriboli M, Wright AJ, Olsburgh J, Taylor C, Sinha MD, Mishra P, Taghizadeh A
J Pediatr Urol 2022 Apr;18(2):150.e1-150.e6. Epub 2022 Feb 7 doi: 10.1016/j.jpurol.2022.01.019. PMID: 35283020
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
Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance.
Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT
Ultrasound Obstet Gynecol 2017 Oct;50(4):429-441. Epub 2017 Sep 7 doi: 10.1002/uog.17246. PMID: 27546497
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

Diagnosis

Neonatal palliative care.
Parravicini E
Curr Opin Pediatr 2017 Apr;29(2):135-140. doi: 10.1097/MOP.0000000000000464. PMID: 28092282
Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance.
Karim JN, Roberts NW, Salomon LJ, Papageorghiou AT
Ultrasound Obstet Gynecol 2017 Oct;50(4):429-441. Epub 2017 Sep 7 doi: 10.1002/uog.17246. PMID: 27546497
Tarsal coalitions.
Zaw H, Calder JD
Foot Ankle Clin 2010 Jun;15(2):349-64. doi: 10.1016/j.fcl.2010.02.003. PMID: 20534361
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
Tay syndrome.
Jambhekar SD, Dhongade AR
Indian J Pediatr 2008 Mar;75(3):288-90. doi: 10.1007/s12098-008-0062-1. PMID: 18376101

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
First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis.
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
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

Prognosis

IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T
J Clin Endocrinol Metab 2020 Jan 1;105(1) doi: 10.1210/clinem/dgz034. PMID: 31544945
Neonatal palliative care.
Parravicini E
Curr Opin Pediatr 2017 Apr;29(2):135-140. doi: 10.1097/MOP.0000000000000464. PMID: 28092282
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
Proboscis lateralis.
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859

Clinical prediction guides

Long-term urology outcomes of anorectal malformation.
Chong C, Hamza Y, Tan YW, Paul A, Garriboli M, Wright AJ, Olsburgh J, Taylor C, Sinha MD, Mishra P, Taghizadeh A
J Pediatr Urol 2022 Apr;18(2):150.e1-150.e6. Epub 2022 Feb 7 doi: 10.1016/j.jpurol.2022.01.019. PMID: 35283020
First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis.
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924
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

Efficacy of sirolimus in children with lymphatic malformations of the head and neck.
Wiegand S, Dietz A, Wichmann G
Eur Arch Otorhinolaryngol 2022 Aug;279(8):3801-3810. Epub 2022 May 8 doi: 10.1007/s00405-022-07378-8. PMID: 35526176Free PMC Article
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
Neurologic complications of Down syndrome: a systematic review.
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
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
Managing molar-incisor hypomineralization: A systematic review.
Elhennawy K, Schwendicke F
J Dent 2016 Dec;55:16-24. Epub 2016 Sep 28 doi: 10.1016/j.jdent.2016.09.012. PMID: 27693779

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