Otizm Olgularına Tanısal Yaklaşım: Pediatrik ve Nörolojik Değerlendirmeler

Zwaigenbaum L, Bauman ML, Fein D, Pierce K, Buie T, Davis PA, et al. Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research. Pediatrics. 2015;136 Suppl 1(Suppl 1):S41-59.

Yochum A. Autism Spectrum/Pervasive Developmental Disorder. Prim Care. 2016;43(2):285-300.

Zwaigenbaum L, Bauman ML, Stone WL, Yirmiya N, Estes A, Hansen RL, et al. Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research. Pediatrics. 2015;136 Suppl 1(Suppl 1):S10-40.

Pierce K, Carter C, Weinfeld M, Desmond J, Hazin R, Bjork R, et al. Detecting, studying, and treating autism early: the one-year well-baby check-up approach. J Pediatr. 2011;159(3):458-65.e1-6.

Wieckowski AT, Hamner T, Nanovic S, Porto KS, Coulter KL, Eldeeb SY, et al. Early and Repeated Screening Detects Autism Spectrum Disorder. J Pediatr. 2021;234:227-35.

Shaw KA, Maenner MJ, Bakian AV, Bilder DA, Durkin MS, Furnier SM, et al. Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018. MMWR Surveill Summ. 2021;70(10):1-14.

Warren Z, Veenstra-VanderWeele J, Stone W, Bruzek JL, Nahmias AS, Foss-Feig JH, et al. AHRQ Comparative Effectiveness Reviews. Therapies for Children With Autism Spectrum Disorders. Rockville (MD): Agency for Healthcare Research and Quality (US); 2011.

Weitlauf AS, McPheeters ML, Peters B, Sathe N, Travis R, Aiello R, et al. AHRQ Comparative Effectiveness Reviews. Therapies for Children With Autism Spectrum Disorder: Behavioral Interventions Update. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014.

Hyman SL, Levy SE, Myers SM. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics. 2020;145(1).

Johnson CP, Myers SM. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(5):1183-215.

Bhavnani S, Lockwood Estrin G, Arora R, Kumar D, Kakra M, Vajaratkar V, et al. "I was Confused … and Still am" Barriers Impacting the Help-Seeking Pathway for an Autism Diagnosis in Urban North India: A Mixed Methods Study. J Autism Dev Disord. 2022;52(4):1778-88.

Malhi P, Shetty AR, Bharti B, Saini L. Parenting a child with autism spectrum disorder: A qualitative study. Indian J Public Health. 2022;66(2):121-7.

Lipkin PH, Macias MM. Promoting Optimal Development: Identifying Infants and Young Children With Developmental Disorders Through Developmental Surveillance and Screening. Pediatrics. 2020;145(1).

Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133(1):37-45.

Hine JF, Allin J, Allman A, Black M, Browning B, Ramsey B, et al. Increasing Access to Autism Spectrum Disorder Diagnostic Consultation in Rural and Underserved Communities: Streamlined Evaluation Within Primary Care. J Dev Behav Pediatr. 2020;41(1):16-22.

McNally Keehn R, Ciccarelli M, Szczepaniak D, Tomlin A, Lock T, Swigonski N. A Statewide Tiered System for Screening and Diagnosis of Autism Spectrum Disorder. Pediatrics. 2020;146(2).

Sohl K, Mazurek MO, Brown R. ECHO Autism: Using Technology and Mentorship to Bridge Gaps, Increase Access to Care, and Bring Best Practice Autism Care to Primary Care. Clin Pediatr (Phila). 2017;56(6):509-11.

Dalwai S, Ahmed S, Udani V, Mundkur N, Kamath SS, MK CN. Consensus Statement of the Indian Academy of Pediatrics on Evaluation and Management of Autism Spectrum Disorder. Indian Pediatr. 2017;54(5):385-93.

Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bölte S. Premature mortality in autism spectrum disorder. Br J Psychiatry. 2016;208(3):232-8.

Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, et al. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012;7(4):e33224.

Tye C, Runicles AK, Whitehouse AJO, Alvares GA. Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions: An Integrative Review. Front Psychiatry. 2018;9:751.

Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI, Jr., Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017;18(6):362-76.

Pan PY, Bölte S, Kaur P, Jamil S, Jonsson U. Neurological disorders in autism: A systematic review and meta-analysis. Autism. 2021;25(3):812-30.

Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013;15(5):399-407.

Mandy W, Lai MC. Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition. J Child Psychol Psychiatry. 2016;57(3):271-92.

Lingen M, Albers L, Borchers M, Haass S, Gärtner J, Schröder S, et al. Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life. Clin Genet. 2016;89(2):258-66.

Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E, et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014;16(12):922-31.

Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, et al. Chromosomal microarray impacts clinical management. Clin Genet. 2014;85(2):147-53.

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17(6):505-7.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, et al. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Jama. 2015;314(9):895-903.

Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, et al. Comprehensive molecular testing in patients with high functioning autism spectrum disorder. Mutat Res. 2016;784-785:46-52.

Fernandez BA, Scherer SW. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. Dialogues Clin Neurosci. 2017;19(4):353-71.

Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2014;53(2):237-57.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-64.

Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742-5.

Muhle RA, Reed HE, Vo LC, Mehta S, McGuire K, Veenstra-VanderWeele J, et al. Clinical Diagnostic Genetic Testing for Individuals With Developmental Disorders. J Am Acad Child Adolesc Psychiatry. 2017;56(11):910-3.

Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet. 2013;83(5):399-407.

Persico AM, Napolioni V. Autism genetics. Behav Brain Res. 2013;251:95-112.

Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, et al. Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature. Clin Genet. 2019;95(2):221-30.

McBride KL, Varga EA, Pastore MT, Prior TW, Manickam K, Atkin JF, et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res. 2010;3(3):137-41.

Eriksson MA, Liedén A, Westerlund J, Bremer A, Wincent J, Sahlin E, et al. Rare copy number variants are common in young children with autism spectrum disorder. Acta Paediatr. 2015;104(6):610-8.

McGrew SG, Peters BR, Crittendon JA, Veenstra-Vanderweele J. Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement? J Autism Dev Disord. 2012;42(8):1582-91.

Roesser J. Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clin Pediatr (Phila). 2011;50(9):834-43.

Tassone F, Choudhary NS, Tassone F, Durbin-Johnson B, Hansen R, Hertz-Picciotto I, et al. Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study. J Autism Dev Disord. 2013;43(3):530-9.

Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, et al. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012;74(2):285-99.

Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 2014;37(2):95-105.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012;338(6114):1619-22.

Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH, Jr., Dawson G, et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000;55(4):468-79.

Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903-18.

El Achkar CM, Spence SJ. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015;47:183-90.

Ghacibeh GA, Fields C. Interictal epileptiform activity and autism. Epilepsy Behav. 2015;47:158-62.

Jeste SS, Tuchman R. Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin? J Child Neurol. 2015;30(14):1963-71.

Jokiranta E, Sourander A, Suominen A, Timonen-Soivio L, Brown AS, Sillanpää M. Epilepsy among children and adolescents with autism spectrum disorders: a population-based study. J Autism Dev Disord. 2014;44(10):2547-57.

Woolfenden S, Sarkozy V, Ridley G, Coory M, Williams K. A systematic review of two outcomes in autism spectrum disorder - epilepsy and mortality. Dev Med Child Neurol. 2012;54(4):306-12.

Yasuhara A. Correlation between EEG abnormalities and symptoms of autism spectrum disorder (ASD). Brain Dev. 2010;32(10):791-8.

Kagan-Kushnir T, Roberts SW, Snead OC, 3rd. Screening electroencephalograms in autism spectrum disorders: evidence-based guideline. J Child Neurol. 2005;20(3):197-206.

Tassinari CA, Rubboli G. Cognition and paroxysmal EEG activities: from a single spike to electrical status epilepticus during sleep. Epilepsia. 2006;47 Suppl 2:40-3.

Gencpinar P, Dundar NO, Tekgul H. Electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) syndrome in children: An electroclinical evaluation according to the EEG patterns. Epilepsy Behav. 2016;61:107-11.

Matricardi S, Verrotti A, Chiarelli F, Cerminara C, Curatolo P. Current advances in childhood absence epilepsy. Pediatr Neurol. 2014;50(3):205-12.

Verrotti A, Matricardi S, Rinaldi VE, Prezioso G, Coppola G. Neuropsychological impairment in childhood absence epilepsy: Review of the literature. J Neurol Sci. 2015;359(1-2):59-66.

Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep. 2009;9(2):129-36.

Besag FM. Epilepsy in patients with autism: links, risks and treatment challenges. Neuropsychiatr Dis Treat. 2018;14:1-10.

Frye RE, Sreenivasula S, Adams JB. Traditional and non-traditional treatments for autism spectrum disorder with seizures: an on-line survey. BMC Pediatr. 2011;11:37.

Garbarino VR, Gilman TL, Daws LC, Gould GG. Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder. Pharmacol Res. 2019;140:85-99.

Hamel E. Serotonin and migraine: biology and clinical implications. Cephalalgia. 2007;27(11):1293-300.

Casanova MF. The minicolumnopathy of autism: A link between migraine and gastrointestinal symptoms. Med Hypotheses. 2008;70(1):73-80.

Jacobs H, Singhi S, Gladstein J. Medical Comorbidities in Pediatric Headache. Semin Pediatr Neurol. 2016;23(1):60-7.

McGuire K, Fung LK, Hagopian L, Vasa RA, Mahajan R, Bernal P, et al. Irritability and Problem Behavior in Autism Spectrum Disorder: A Practice Pathway for Pediatric Primary Care. Pediatrics. 2016;137 Suppl 2:S136-48.

Kanne SM, Gerber AJ, Quirmbach LM, Sparrow SS, Cicchetti DV, Saulnier CA. The role of adaptive behavior in autism spectrum disorders: implications for functional outcome. J Autism Dev Disord. 2011;41(8):1007-18.

Liss M, Harel B, Fein D, Allen D, Dunn M, Feinstein C, et al. Predictors and correlates of adaptive functioning in children with developmental disorders. J Autism Dev Disord. 2001;31(2):219-30.

O'Hare A, Bremner L. Management of developmental speech and language disorders: Part 1. Arch Dis Child. 2016;101(3):272-7.

Bennetto L, Keith JM, Allen PD, Luebke AE. Children with autism spectrum disorder have reduced otoacoustic emissions at the 1 kHz mid-frequency region. Autism Res. 2017;10(2):337-45.

Dawes P, Bishop D. Auditory processing disorder in relation to developmental disorders of language, communication and attention: a review and critique. Int J Lang Commun Disord. 2009;44(4):440-65.

Bhat AN, Galloway JC, Landa RJ. Relation between early motor delay and later communication delay in infants at risk for autism. Infant Behav Dev. 2012;35(4):838-46.

Provost B, Lopez BR, Heimerl S. A comparison of motor delays in young children: autism spectrum disorder, developmental delay, and developmental concerns. J Autism Dev Disord. 2007;37(2):321-8.

Anketell PM, Saunders KJ, Gallagher SM, Bailey C, Little JA. Brief Report: Vision in Children with Autism Spectrum Disorder: What Should Clinicians Expect? J Autism Dev Disord. 2015;45(9):3041-7.

Rogers SJ, Hepburn S, Wehner E. Parent reports of sensory symptoms in toddlers with autism and those with other developmental disorders. J Autism Dev Disord. 2003;33(6):631-42.

McCormick C, Hepburn S, Young GS, Rogers SJ. Sensory symptoms in children with autism spectrum disorder, other developmental disorders and typical development: A longitudinal study. Autism. 2016;20(5):572-9.

Ausderau KK, Furlong M, Sideris J, Bulluck J, Little LM, Watson LR, et al. Sensory subtypes in children with autism spectrum disorder: latent profile transition analysis using a national survey of sensory features. J Child Psychol Psychiatry. 2014;55(8):935-44.