Nörokütanöz Hastalıkların Nöropsikiyatrik Bulguları ve TAND

Özet

Nörokütanöz hastalıklar; tüberoskleroz, nörofibromatozis ve Sturge-Weber sendromu gibi genetik geçişli olup santral sinir sistemi ve deriyi etkileyen geniş bir klinik grubu oluşturmaktadır. Bu hastalıklar, bilişsel yetersizlikler, otizm spektrum bozukluğu, dikkat eksikliği ve hiperaktivite gibi çeşitli nöropsikiyatrik ve davranışsal bulgularla karakterize olup hastaların yaşam kalitesini önemli ölçüde etkileyebilmektedir. Erken dönemde psikiyatrik semptomların tanınması ve müdahale edilmesi, hastaların uzun vadeli sonuçlarını iyileştirmek adına büyük önem taşımaktadır.

 

Neurocutaneous diseases represent a broad clinical group, including tuberous sclerosis, neurofibromatosis, and Sturge-Weber syndrome, that are typically genetic in origin and affect the central nervous system and skin. These conditions are characterized by various neuropsychiatric and behavioral findings, such as cognitive impairments, autism spectrum disorder, and attention deficit hyperactivity disorder, which can significantly impact patients' quality of life. Early recognition and intervention for psychiatric symptoms are of great importance to improve the long-term outcomes for patients.

Referanslar

Kızılca Ö, Ünal N. Nörokütanöz Hastalıklar. Türkiye Klinikleri Pediatrik Bilimler. 2015;11:105-11.

Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handbook of clinical neurology. 2016;135:565-89.

Zaroff CM, Isaacs K. Neurocutaneous syndromes: behavioral features. Epilepsy & behavior. 2005;7:133-42.

Gündoğdu E, Ceylan S, Kefal K, et al. Tüberskleroz ile İlişkili Abdominal Bulgular: Radyolojik Açıdan Bakış. 2020;2(2):113-8.

De Vries PJ, Wilde L, de Vries MC, et al. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018;178(3):309-320

Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. 2015;14(7):733-45.

De Vries PJ, Humphrey A, McCartney D, et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis. 2005;14(4):183-90.

Kingswood J, d’Augeres G, Belousova E, et al. Tuberous Sclerosis registry to increase disease Awareness (TOSCA)-baseline data on 2093 patient Orphanet J Rare Dis. 2017;12(1):2.

Krueger DA, Sadhwani A, Byars AW, et al. Everolimus for treatment of tuberous sclerosis complex‐associated neuropsychiatric disorders.2017;4(12):877-87.

De Vries PJ, Hunt A, Bolton PF. The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC). Child Adolesc. Psychiatry. 2007;16(1):16-24.

De Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatric Neurology. 2015;52(1):25-35.

Eden KE, de Vries PJ, Moss J, et al. Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers. Journal of Neurodevelopmental Disorders. 2014;6(1):1-11.

Bolton PF, Park RJ, Higgins JNP, et al. Neuro‐epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain. 2002;125(6):1247-55.

Jeste SS, Sahin M, Bolton P, et al. Characterization of autism in young children with tuberous sclerosis complex. Journal of Child Neurology. 2008;23(5):520-5.

Trickett J, Heald M, Oliver C, et al. A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. Journal of Developmental Disorders. 2018;10(1):1-14.

Bruni O, Cortesi F, Giannotti F, et al. Development. Sleep disorders in tuberous sclerosis: a polysomnographic study. Brain Dev. 1995;17(1):52-6.

Leclezio L, Gardner-Lubbe S, de Vries PJ. Is it feasible to identify natural clusters of TSC-associated neuropsychiatric disorders (TAND)? Pediatric Neurology. 2018;81:38-44.

Numis A, Major P, Montenegro M, et al. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology. 2011;76(11):981-7.

Waltereit R, Japs B, Schneider M, et al. Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats. Behaviour Genetics. 2011;41(3):364-72.

Jeste SS, Wu JY, Senturk D, et al. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014;83(2):160-8.

Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy & Behavior. 2007;11(4):506-13.

D'Agati E, Moavero R, Cerminara C, et al. Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex. European Journal of Paediatric Neurology. 2009;24(10):1282-7.

Turic D, Langley K, Mills S, et al. Follow-up of genetic linkage findings on chromosome 16p13: evidence of association of N-methyl-D aspartate glutamate receptor 2A gene polymorphism with ADHD. Molecular Psychiatry. 2004;9(2):169-73.

Pliszka S, Psychiatry A. Practice parameter for the assessment and treatment of children and adolescents with attention-deficit/hyperactivity disorder. Journal of the American Academy of Child & Adolescent Psychiatry. 2007;46(7):894-921.

Lewis J, Thomas H, Murphy K, et al. Genotype and psychological phenotype in tuberous sclerosis. Journal of medical genetics. 2004;41(3):203-7.

Joinson C, O'Callaghan F, Osborne J, et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychological Medicine. 2003;33(2):335.

Van Eeghen AM, Chu-Shore CJ, Pulsifer MB, et al. Behavior, cognitive and adaptive development of patients with tuberous sclerosis complex: a retrospective, longitudinal investigation. Epilepsy&Behaviour. 2012;23(1):10-5.

Wong HT, McCartney DL, Lewis JC, et al. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Journal of Medical Genetics. 2015;52(12):815-22.

Van Eeghen AM, Black ME, Pulsifer MB, et al. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. European Journal Of Human Genetics. 2012;20(5):510-5.

De Vries PJ. Neurodevelopmental, psychiatric and cognitive aspects of tuberous sclerosis complex. Kwiatkowsi DJ, Whittemore VH, Thiele EA (eds.) Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. Wiley-Blackwell: Weinheim; 2010. p. 229-268.

Ridler K, Suckling J, Higgins N, et al. Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cerebral Cortex. 2007;17(2):261-71.

P. Crino, R. Mehta, H. Vinters. Pathogenesis of TSC in the brain. Kwiatkowsi DJ, Whittemore VH, Thiele EA (eds.) Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. Wiley-Blackwell: Weinheim; 2010. p. 285-309.

Wang X, Wu Q, Tang H, et al. Selective impairment of the executive attentional network in adult patients with neurofibromatosis type 1. Neuroreport. 2019;30:921-6.

Rietman AB, van der Vaart T, Plasschaert E, et al. Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. American journal of medical genetics, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2018;177:319-28.

Costa Dde S, de Paula JJ, de Rezende NA, et al. Neuropsychological impairments in elderly Neurofibromatosis type 1 patients. European journal of medical genetics. 2014;57:216-9.

Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Developmental medicine and child neurology. 2017;59:1112-6.

Payne JM, Walsh KS, Pride NA, et al. Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes. Developmental medicine and child neurology. 2020;62:813-9.

Chisholm AK, Anderson VA, Pride NA, et al. Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis. Neuropsychology review. 2018;28:317-40.

Mirza T, Majeed MH. Neurofibromatosis and psychosis: coincidence or co-occurrence? The Australian and New Zealand journal of psychiatry. 2019;53:585-6.

Singh AK, Keenaghan M. Sturge-Weber Syndrome. Treasure Island FL:StatPearls Publishing;2021.

Kramer U, Kahana E, Shorer Z, et al. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Developmental medicine and child neurology. 2000;42:756-9.

Turin E, Grados MA, Tierney E, et al. Behavioral and psychiatric features of Sturge-Weber syndrome. The Journal of nervous and mental disease. 2010;198:905-13.

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, et al. Sturge-Weber syndrome: study of 55 patients. The Canadian journal of neurological sciences Le journal canadien des sciences neurologiques. 2008;35:301-7.

Chapieski L, Friedman A, Lachar D. Psychological functioning in children and adolescents with Sturge-Weber syndrome. Journal of child neurology. 2000;15:660-5.

Gittins S, Steel D, Brunklaus A, et al. Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. Epilepsy & behavior. 2018;88:1-4.

Sebold AJ, Ahmed AS, Ryan TC, et al. Suicide Screening in Sturge-Weber Syndrome: An Important Issue in Need of Further Study. Pediatric neurology. 2020;110:80-6.

Gadit AA. Sturge-Weber syndrome: neurology-psychiatry interface. BMJ case reports. 2011.

Gelecek

18 Ocak 2023

Lisans

Lisans