Nörogelişimsel Bozukluklar
Özet
Nörogelişimsel bozukluklar, bebeklikten ergenliğe kadar olan gelişim döneminde ortaya çıkan ve bireyin yaşamı boyunca devam eden, beynin işleyişiyle ilişkili kronik engellerdir. Bu bozukluklar kişisel, sosyal, akademik ve mesleki işlevsellikte önemli bozulmalara yol açmaktadır. Metinde zihinsel yetersizlik, iletişim bozuklukları, otizm spektrum bozukluğu, dikkat eksikliği/hiperaktivite bozukluğu (DEHB), özgül öğrenme bozukluğu ve tikler gibi devinsel bozukluklar kapsamlı şekilde ele alınmıştır. Çok faktörlü ve karmaşık olan etiyolojide genetik yatkınlıkların yanı sıra hamilelikte alkol/tütün kullanımı, erken doğum, düşük doğum ağırlığı ve kurşun gibi nörotoksik çevresel kirleticiler önemli rol oynar. Tanı sürecinde standardize zeka testleri, gelişimsel taramalar ve uyumsal davranış ölçekleri kullanılır. Erken tanı ve müdahalenin prognoz üzerinde belirleyici bir etkisi vardır. Tedavi ve bakım yaklaşımı; psikoeğitsel girişimler, kanıta dayalı davranış değiştirme teknikleri, farmakoterapi ve aile danışmanlığını içeren çok odaklı bir yapıya sahiptir. Pediatrist, hemşire, özel eğitimci ve terapistlerden oluşan multidisipliner bir ekibin iş birliği, çocukların bağımsız yaşam becerilerini geliştirmek, yaşam kalitelerini artırmak ve onları toplumsal yaşama tam olarak dahil etmek açısından kritik bir öneme sahiptir.
Neurodevelopmental disorders are chronic impairments linked to brain functioning that manifest during the developmental period from infancy to adolescence and persist throughout an individual's lifespan. These disorders cause significant disruptions in personal, social, academic, and occupational functioning. The text provides a comprehensive evaluation of intellectual disabilities, communication disorders, autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), specific learning disorders, and motor disorders such as tics. The etiology is complex and multifaceted, arising from a combination of genetic factors and environmental risks including maternal substance use, preterm birth, low birth weight, and exposure to neurotoxic pollutants like lead. Standardized intelligence tests, developmental screenings, and adaptive behavior scales are essential for accurate diagnosis. Early detection and timely intervention have a substantial positive impact on prognosis. Management and care require a multi-focused approach encompassing psychoeducational interventions, evidence-based behavior modification techniques, pharmacotherapy, and comprehensive family counseling. Collaborative multidisciplinary teams composed of pediatricians, nurses, special educators, and therapists are crucial to maximizing independent living skills, improving quality of life, and achieving full social integration.
Referanslar
Melillo R, Leisman G. Neurobehavioral disorders of childhood: an evolutionary perspective. New York: Springer, 2010.
Sabariego-Navarro M, Fernández-Blanco A, Sierra C, Dierssen M. Neurodevelopmental disorders: 2022 update. Free Neuropathology. 2022;3(8). https://doi.org/10.17879/freeneuropathology-2022-3801
Thapar A, Cooper M, Rutter M. Neurodevelopmental disorders. Lancet Psychiatry 2017;4:339-46.
Ismail FY, Shapiro BK. What are neurodevelopmental disorders? Curr Opin Neurol 2019;32:611-6.
Stein MT. Developmental and behavioral pediatrics (Section 7). In Rudolph, C.D., Rudolph, A.M., Lister, G.E., Fırst, L.R., Gershon, A.A., Leventhal, J.M (Eds.). Rudolph’s Pediatri. By McGraw-Hill Compenies, New York: By McGraw-Hill Education. 23nd ed.;2018, pp. 305–55.
Patel DR, Merrick J. Neurodevelopmental and neurobehavioral disorders. Transl Pediatr 2020;9(Suppl 1):S1-S2. doi: 10.21037/tp.2020.02.03.
Morris-Rosendahl DJ; Crocq M. Neurodevelopmental disorders—the history and future of a diagnostic concept. Dialogues Clin Neurosci. 2020;22(1):65-72. doi:10.31887/DCNS.2020.22.1/macrocq
American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Washington DC: American Psychiatric Association, 2013.
Aarnoudse-Moens CSH, Weisglas-Kuperus N, van Goudoever JB, Oosterlaan J. Meta-analysis of neurobehavioral outcomes in very preterm and/or very low birth weight children. Pediatrics. 2009; 124 (2):717-728. doi: 10.1542/peds.2008-2816.
Pacheco M, Dellz L, Martínez I, Morales L. Epidemiological profile of children with neurodevelopmental disorders in a diagnostic center in Southern Puerto Rico, 2006-2017. Epidemiol Open J. 2022; 7(1): 3-10. doi: 10.17140/EPOJ-7-127
Bellinger DC. Lead neurotoxicity and socioeconomic status: conceptual and analytical issues. Neurotoxicology. 2008;29 (5):828-32. doi: 10.1016/j.neuro.2008.04.005.
Rubin IL, Merrick J, Greydanus DE, et al. Health care for people with intellectual and developmental disabilities across the lifespan. Switzerland: Springer International, 3rd Edition.2016. doi 10.1007/978-3-319-18096-0
Lafçı D, Öztunç G, Alparslan ZN. Zihinsel Engelli Çocukların (Mental Retardasyonlu Çocukların) Anne ve Babalarının Yaşadığı Güçlüklerin Belirlenmesi. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi. 2014;3(2):723-735. https://dergipark.org.tr/tr/pub/gumussagbil/issue/23833/253905
Eripek S. Zeka Geriliği Olan Çocuklar. Ataman A (Ed) Özel Gereksinimli Çocuklar ve Özel Eğitime Giriş), 2. Baskı, Gündüz Eğitim ve Yayıncılık, 2005.
American Association of Intellectual and Developmental Disabilities. FAQ on Intellectual Disability. Retrieved March 23, 2009 from http://www.aamr.org/content_104.cfm?navID=22.
Schroeder SR. Mental retardation and developmental disabilities influenced by environmental neurotoxic insults. Environmental Health Perspectives. 2000;108(Suppl.3):395-9. doi: 10.1289/ehp.00108s3395.
Yıldısırım Sarı H. Engelli çocukların hemşirelik bakımı. Conk Z, Başbakkal Z, Bal Yılmaz H, Bolışık B (Ed). Pediatri Hemşireliği. Ankara: Akademisyen Kitabevi. 2013, Ankara, 865-880.
McDermott S, Wu J, Cai B, Lawson A and Marjorie Aelion C. Probability of intellectual disability is associated with soil concentrations of arsenic and lead. Chemosphere. 2011;84(1):31-8. doi: 10.1016/j.chemosphere.2011.02.088.
King Bh, Hodapp RM, Dykens EM. Zeka geriliği. In: Comprehensive textbook of psychiatry. Sadock BJ, Sadock VA (Ed). 8. Baskı. Cilt 4. 2007:3076-3105
Servonsky J, Opas SR. Nursing management of children. Jones&Bartlett Publishers, Boston. 1987;544.
Johnson CJ, Bettchman JH. İletişim bozuklukları. In: Comprehensive textbook of psychiatry. Sadock BJ, Sadock VA (Ed). 8. Baskı, Cilt 4, 2007:3136-63.
Chapman R. Children’s language learning: an interactionist perpective. J Child Psychol Psychiatry. 2000;41(1):35-54.
Toppelberg C, Shapiro T. Language diserders: A 10 year research update reiew. J Am Acad Child Adolescc Psychiatry. 2000;39:143. doi: 10.1097/00004583-200002000-00011.
Ahmed S, Lombardino L, Leonard C. Specific language impairment: definitions, casual mechanisms and neurobiological factor. J Med Speech Lang. Pathol. 2001;9(1):1-15.
McArthur GM, Bishop DVM. Which people with specific language impairment have auditory processing deficits? Cogn Neuropsyhol. 2004;21(1):79-94. doi: 10.1080/02643290342000087.
Dodd B, Bradford A. A comparison of three therapy methods for children with different types of phonological disorder. Int J Lang Commun Disord. 2000;35(2):189-209. doi: 10.1080/136828200247142.
De Nill LF, Kroll RM. Searching for the neural basis of stuttering treatment outcome: recent neuroimaging studies. Clin Linguist Phon. 2001;15(1-2):163-8. doi: 10.3109/02699200109167650.
Ocakçı AF, Karakoç A. Çocuklarda uyum ve davranış sorunları ve hemşirelik bakımı. Z Conk, Z Başbakkal, Yılmaz Bal H, Bolışık B (Ed), Pediatri Hemşireliği. Akademisyen Tıp Yayınevi. Ankara 2013: 819-842.
Reiff MI. Autism Spectrum Disorder. In Rudolph, CD, Rudolph, AM, Lister GE, Fırst LR., Gershon AA, Leventhal JM (Eds.). Rudolph’s Pediatri. By McGraw-Hill Compenies, New York: By McGraw-Hill Education. 23nd ed.;2018:352-355
Alyanak B. Çocukluk ve gençlik çağında klinik sendromlar: Otizm. Ben Hasta Değilim. A Ekşi (ed). Nobel Tıp Kitapevleri. 2. Baskı. 2011. İstanbul. 150-164
Hallmayer J, Cleveland S, Torres A. et al. Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry. 2011;68(11):1095-102. doi: 10.1001/archgenpsychiatry.2011.76.
Kinney DK, Barch DH, Chayka B, et al. Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder? Medical Hypotheses. 2010;74 (1):102-6. doi: 10.1016/j.mehy.2009.07.052.
Stein MT, Reiff MI. Hyperactivity and attention deficit. In Rudolph CD, Rudolph AM, Lister GE, Fırst LR., Gershon AA, Leventhal JM (Ed). Rudolph’s Pediatri. By McGraw-Hill Compenies, New York: By McGraw-Hill Education. 23nd ed.;2018. 321-327
Biederman J. Attention-deficit/hyperactivity disorder: A selective overview. Biol Psychiatry. 2005;57:1215-20. doi: 10.1016/j.biopsych.2004.10.020.
Larson K, Russ SA, Kahn RS, Halfon N. Patterns of comorbidity, functioning, and service use for U.S. children with ADHD, 2007. Pediatrics. 2011;127 (3):462-70. doi: 10.1542/peds.2010-0165.
Nigg J, Nikolas M, Burt SA. Measured gene-by-environment interaction in relation to attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 2010;49 (9):863-73. doi: 10.1016/j.jaac.2010.01.02537.
Braun JM, Kahn RS, Froehlich T, et al. Exposures to environmental toxicants and attention deficit hyperactivity disorder in U.S. children. Environmental Health Perspectives. 2006;114 (12):1904-9. doi: 10.1289/ehp.9478.
National Dissemination Center for Children with Disabilities. 2010. Disability Fact Sheet-No. 7: Learning Disabilities. Retrieved April 6, 2010 from http://www.nichcy.org/InformationResources/Documents/NICHCY%20PUBS/fs7.pdf.
Bellinger DC. Very low lead exposures and children's neurodevelopment. Current Opinion in Pediatrics. 2008;20 (2):172-77. doi: 10.1097/MOP.0b013e3282f4f97b.
Vreugdenhil HJ, Mulder PG, Emmen HH, Weisglas-Kuperus N. Effects of perinatal exposure to PCBs on neuropsychological functions in the Rotterdam cohort at 9 years of age. Neuropsychology. 2004;18(1):185-93. doi: 10.1037/0894-4105.18.1.185.
Reiff MI, Stein MT. Learning problems. In Rudolph, C.D., Rudolph, A.M., Lister, G.E., Fırst, L.R., Gershon, A.A., Leventhal, J.M (Ed). Rudolph’s Pediatri. By McGraw-Hill Compenies, New York: By McGraw-Hill Education. 23nd ed.;2018. 327-331.
Dixon SD, Stein MT. Encounters with Children: Pediatric Behavior and Development. 4th.ed. Philadelphia, PA: Mosby Elseier, 2006: 490.
Lindsay RI. School failure/disorder of learning. In: Bergman AB, ed. 20 common problems in pediatrics. New York. NY:McGraw-Hill 2001:328.
Semerci B. Çocuk ve ergenlik döneminde klinik sendromlar: Tik bozuklukları. A Ekşi (Ed). Ben Hasta Değilim. Nobel Tıp Kitapevleri, 2. Baskı. 2011. İstanbul. 219-226
Leckman JF, Peterson BS, Cohen DJ. Tic Disorders. In:Lewis M (Ed). Child and adolescent psychiatry. Baltimore:Williams and Wilkins, 2002:735-744
Kim KM, Bae E, Lee J, et al. A Review of Cognitive and Behavioral Interventions for Tic Disorder. J Korean Acad Child Adolesc Psychiatry 2021;32(2):51-62. doi: 10.5765/jkacap.200042
