Neuropsychiatric Aspects of Congenital and Genetic Disorders

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Published

2022-09-26

DOI:

https://doi.org/10.55229/ijbs.v25i2.07

Keywords:

Congenital disorders, Genetic disorders, Neurodevelopmental disorders, Neuropsychiatry.

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Authors

  • Sujita K. Kar Department of Psychiatry, King George’s Medical University, Lucknow, Uttar Pradesh, India.
  • Jamshed Ahmad Department of Psychiatry, King George’s Medical University, Lucknow, U.P, India.
  • TV Ram Kumar Department of Paediatrics, P.R.M. Medical College, Baripada, Odisha, India.

Abstract

Neuropsychiatry is an area of medicine that deals with behavioural issues caused by brain dysfunction. It is found at the intersection of neurology and psychiatry. Individuals with congenital and genetic diseases are more likely to experience neuropsychiatric symptoms (particularly mental retardation), which can lead to considerable disability and a lower quality of life. Developmental delay, intellectual disability, autism spectrum disorders (ASDs), and cognitive dysfunction are the most common symptoms of neuropsychiatric illnesses. Many intellectual developmental abnormalities are caused by complex genetic components (such as attention deficit hyperactivity disorder), pregnancy or birth complications, or environmental variables, among other things. Patients with congenital and genetic diseases with neuropsychiatric indications benefit from a multidisciplinary approach to management. Interdepartmental liaisoning may be advantageous in the absence of a multidisciplinary team.

How to Cite

Kar, S. K., Ahmad, J., & Kumar, T. R. (2022). Neuropsychiatric Aspects of Congenital and Genetic Disorders. Indian Journal of Behavioural Sciences, 25(02), 117–127. https://doi.org/10.55229/ijbs.v25i2.07

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References

. Lyketsos CG, Kozauer N, Rabins PV: Psychiatric manifestations of neurologic disease: where are we headed? Dialogues in clinical neuroscience 2007, 9(2):111.

Huang Y, Yu S, Wu Z, Tang B: Genetics of hereditary neurological disorders in children. Translational pediatrics 2014, 3(2):108.

Hebebrand J, Volckmar A-L, Knoll N, Hinney A: Chipping away the ‘missing heritability’: GIANT steps forward in the molecular elucidation of obesity–but still lots to go. Obesity facts 2010, 3(5):294-303.

Trippitelli CL, Jamison KR, Folstein MF, Bartko JJ, DePaulo JR: Pilot study on patients' and spouses' attitudes toward potential genetic testing for bipolar disorder. American Journal of Psychiatry 1998, 155(7):899-904.

Price AL, Jones NC, Pevzner PA: De novo identification of repeat families in large genomes. Bioinformatics 2005, 21(suppl_1):i351-i358.

Smoller JW, Gardner‐Schuster E, Covino J: The genetic basis of panic and phobic anxiety disorders. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics: 2008: Wiley Online Library; 2008: 118-126.

Spruyt K, Braam W, Curfs LM: Sleep in Angelman syndrome: a review of evidence. Sleep Medicine Reviews 2017.

Myers BA, Pueschel SM: Psychiatric disorders in persons with Down syndrome. The Journal of nervous and mental disease 1991, 179(10):609-613.

Sadock BJ, Sadock VA: Kaplan and Sadock's synopsis of psychiatry: Behavioral sciences/clinical psychiatry: Lippincott Williams & Wilkins; 2011.

Demirhan O, Taştemir D: Chromosome aberrations in a schizophrenia population. Schizophrenia research 2003, 65(1):1-7.

Lao PJ, Handen BL, Betthauser TJ, Mihaila I, Hartley SL, Cohen AD, Tudorascu DL, Bulova PD, Lopresti BJ, Tumuluru RV: Alzheimer-Like Pattern of Hypometabolism Emerges with Elevated Amyloid-β Burden in Down Syndrome. Journal of Alzheimer's Disease 2017(Preprint):1-14.

Rajaratnam A, Shergill J, Salcedo-Arellano M, Saldarriaga W, Duan X, Hagerman R: Fragile X syndrome and fragile X-associated disorders. F1000Research 2017, 6.

Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey Jr DB, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL: Fragile X syndrome. Nature Reviews Disease Primers 2017, 3:17065.

Velinov M, Gu H, Shah K, Genovese M, Duncan C, Kupchik G, Jenkins E: PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions. Genetic testing 2001, 5(2):153-155.

Whittington J, Holland A: Neurobehavioral phenotype in Prader–Willi syndrome. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics: 2010: Wiley Online Library; 2010: 438-447.

Biliya S, Bulla Jr LA: Genomic imprinting: the influence of differential methylation in the two sexes. Experimental Biology and Medicine 2010, 235(2):139-147.

Shriki-Tal L, Avrahamy H, Pollak Y, Gross-Tsur V, Genstil L, Hirsch H, Benarroch F: Psychiatric disorders in a cohort of individuals with Prader–Willi syndrome. European Psychiatry 2017, 44:47-52.

Wheeler AC, Sacco P, Cabo R: Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet journal of rare diseases 2017, 12(1):164.

Swaiman KF, Ashwal S, Ferriero DM: Pediatric neurology: principles & practice, vol. 1, 4th Edition edn. Philadelphia: Mosby-Elsevier Health Sciences; 2006.

Schaefer GB, Mendelsohn NJ, Practice P, Committee G: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine 2013, 15(5):399-407.

Liyanage VR, Rastegar M: Rett syndrome and MeCP2. Neuromolecular medicine 2014, 16(2):231-264.

Piña-Garza JE, Fenichel GM: Fenichel's Clinical Pediatric Neurology: A Signs and Symptoms Approach: Elsevier Health Sciences; 2013.

Walterfang M, Wood SJ, Velakoulis D, Copolov D, Pantelis C: Diseases of white matter and schizophrenia‐like psychosis. Australian and New Zealand Journal of Psychiatry 2005, 39(9):746-756.

Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J, Morrow BE: Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Human molecular genetics 2004, 13(15):1577-1585.

Chow EW, Bassett AS, Weksberg R: Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics. American Journal of Medical Genetics Part A 1994, 54(2):107-112.

Gothelf D, Schaer M, Eliez S: Genes, brain development and psychiatric phenotypes in velo‐cardio‐facial syndrome. Developmental disabilities research reviews 2008, 14(1):59-68.

Murphy KC: Schizophrenia and velo-cardio-facial syndrome. The Lancet 2002, 359(9304):426-430.

Feinstein C, Eliez S, Blasey C, Reiss AL: Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biological psychiatry 2002, 51(4):312-318.

Golding-Kushner K, Weller G, Shprintzen R: Velo-cardio-facial syndrome: language and psychological profiles. Journal of craniofacial genetics and developmental biology 1985, 5(3):259-266.

Quarrell O, O'Donovan KL, Bandmann O, Strong M: The prevalence of juvenile Huntington's disease: a review of the literature and meta-analysis. PLoS currents 2012, 4.

Scuffham TM, MacMillan JC: Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes? Journal of genetic counseling 2014, 23(5):754-761.

Schoenfeld M, Myers RH, Cupples LA, Berkman B, Sax DS, Clark E: Increased rate of suicide among patients with Huntington's disease. Journal of Neurology, Neurosurgery & Psychiatry 1984, 47(12):1283-1287.

Naarding P, Kremer H, Zitman F: Huntingtonˈs disease: a review of the literature on prevalence and treatment of neuropsychiatric phenomena. European Psychiatry 2001, 16(8):439-445.

Jauhar S, Ritchie S: Psychiatric and behavioural manifestations of Huntington’s disease. Advances in psychiatric treatment 2010, 16(3):168-175.

Demily C, Sedel F: Psychiatric manifestations of treatable hereditary metabolic disorders in adults. Annals of general psychiatry 2014, 13(1):27.

Chakor RT, Santhosh N: Severe neuropsychiatric presentation of Wilson's disease. Indian journal of psychiatry 2011, 53(2):170.

Nyhan WL: Behavior in the Lesch-Nyhan syndrome. Journal of Autism and Developmental Disorders 1976, 6(3):235-252.

Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, Velakoulis D: The neuropsychiatry of Niemann-Pick type C disease in adulthood. The Journal of neuropsychiatry and clinical neurosciences 2006, 18(2):158-170.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F: The adult form of Niemann–Pick disease type C. Brain 2006, 130(1):120-133.

Kasahara T, Kato T: What can mitochondrial DNA analysis tell us about mood disorders? Biological psychiatry 2017.

Shao L, Martin MV, Watson SJ, Schatzberg A, Akil H, Myers RM, Jones EG, Bunney WE, Vawter MP: Mitochondrial involvement in psychiatric disorders. Annals of medicine 2008, 40(4):281-295.

Kato T: The other, forgotten genome: mitochondrial DNA and mental disorders. Molecular psychiatry 2001, 6(6):625.

Chauhan N, Sen MS, Jhanda S, Grover S: Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature. Journal of pediatric neurosciences 2016, 11(2):137.

Chess S, Korn SJ, Fernandez PB: Psychiatric disorders of children with congenital rubella. 1971.

Chung W: Teratogens and their effects. The New Public Health: An Introduction for the 21st Century 2012.

Newton DE: Youth Substance Abuse: A Reference Handbook: A Reference Handbook: ABC-CLIO; 2016.

Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N: Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis. Canadian Medical Association Journal 2005, 172(5 suppl):S1-S21.

Burd L, Klug MG, Martsolf JT, Kerbeshian J: Fetal alcohol syndrome: neuropsychiatric phenomics. Neurotoxicology and Teratology 2003, 25(6):697-705.

Famy C, Streissguth AP, Unis AS: Mental illness in adults with fetal alcohol syndrome or fetal alcohol effects. American Journal of Psychiatry 1998, 155(4):552-554.

Wirrell E, Nickels KC: Pediatric epilepsy syndromes. CONTINUUM: Lifelong Learning in Neurology 2010, 16(3, Epilepsy):57-85.

Besag FM: Behavioral aspects of pediatric epilepsy syndromes. Epilepsy & Behavior 2004, 5:3-13.

Liang H, Chang H, Chen C, Chang P, Lo F, Lee L: Psychiatric manifestations in young females with congenital adrenal hyperplasia in Taiwan. Chang Gung medical journal 2008, 31(1):66.

LaFRANCHI S: Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid 1999, 9(7):735-740.

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