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DIAGNOSIS

 

Catching a Neurodevelopmental Disorder (NDD) early makes a huge difference. By recognizing the early signs and symptoms, you can seek for support your child needs to learn, grow, and thrive.

ASD appears in infancy and early childhood, causing a delay or a deficit in fundamental areas of development, such as talking, playing, and interacting with others.

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As a parent, you're in the best position to spot the earliest warning signs of autism. You know your child better than anyone; you observe the behaviors and quirks that a pediatrician, in a quick fifteen-minute visit, might not even notice. While your child's physician can become a valuable partner, the importance of your own observations and experience should not be disregarded. Therefore, the key is to educate yourself so you know what's typical and what's not.

M-CHAT.

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If you believe your child is exhibiting symptoms of autism, there are assessments that you can perform at home prior to seeking expertise from a neurodevelopmental pediatrician. M-CHAT/M-CHAT-R (Modified Checklist for Autism in Toddlers, Revised) is one of them (1). Click here to open the M-CHAT form

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The M-CHAT is typically used for toddlers between 16 and 30 months old. The results of the questions in the M-CHAT assess the child’s risk of developing an ASD (low, medium, or high). In other words, it identifies red flags. You may be surprised that the American Academy of Pediatrics has recommended that ALL parents have their children assessed for autism using M-CHAT between 18 and 24 months (2). However, despite the recommendations and ease of administration, the M-CHAT is not routinely used in primary care (3,4,5).

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Importantly, the M-CHAT is not a diagnostic tool, but rather a screening tool used to guide parents and professionals to determine whether a more in-depth autism evaluation should be performed.

Visual Test.

 

Assessing ocular health is an important step in diagnosing autism. Firstly, because symptoms of vision issues and those of ASD can look very similar, and difficulties processing the visual information is one of them. Indeed, some signs and behaviors that can signal vision issues are similar to sensory and behavioral issues in children with autism, including:

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  • Looking beyond/through objects

  • Turning the head to use peripheral vision instead of central vision to look at objects

  • Rolling eyes

  • Poor eye contact

  • Showing either little/no fear of heights or an excessive fear of heights

  • Visual stimming (flapping fingers in front of eyes)

  • Sensitivity to light

  • Problems with movement and coordination

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On the other hand, children with autism often face challenges in visual processing, which can manifest in various ways and affect their ability to interpret and respond to visual stimuli effectively (26). For example, they may struggle to understand and respond to what they see, find it difficult to recognize familiar faces, and have trouble noticing things around them or understanding the spatial relationships between objects. Additionally, they might focus excessively on small details while missing the bigger picture. Due to these difficulties, affected children may miss important social cues such as facial expressions or body language. Consequently, they may encounter obstacles in forming and maintaining relationships and participating in typical social exchanges, as visual information processing provides nonverbal cues crucial for these interactions. However, it's noteworthy that while some individuals with autism experience difficulties in visual processing, studies have also shown that visual skills may be superior in certain cases, indicating a spectrum of abilities within the ASD population (27).

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In the primary diagnostic process, a standard 20/20 vision screening is likely insufficient; a child can pass a vision screening but still have serious functional vision problems that can seriously impede his ability to learn and socialize.  Therefore, it is recommended that children with ASD undergo a functional visual evaluation to adequately assess many other important aspects of the visual system. During a comprehensive functional exam, your child may be tested for:

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  • Eye Teaming/ Convergence/ Depth Perception / Binocular Vision

  • Convergence Insufficiency/Excess

  • Visual Acuity- Nearsightednes

  • Focusing / Accommodation (an ability to maintain clear vision at varying distances)

  • Eye Tracking and Eye Movement

  • Letter Reversal

  • Color Perception

 Hearing Test.

Since many symptoms of hearing loss and autism appear the same, it's imperative that children suspected with NDD also get their hearing checked.

The research led by Harvard Medical School suggests that a relatively simple hearing test, already used in newborns worldwide, could enhance screening efforts for early detection of NDDs (28). The results show that newborns with abnormal scores in their hearing tests are at increased risk for a subsequent diagnosis with an autism. However, some babies will hear well enough to pass the first hearing screen, but still have hearing problems or develop them later.

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In addition to physical damage to the ears, some children may experience auditory processing disorder, where the nerves responsible for delivering sound to the brain malfunction. In such cases, a child may hear but struggle to make sense of what is being said to them. This can impact how the child processes sound and noise and lead to struggles with learning and language.

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Due to challenges in processing sound, children with autism may be sensitive to specific sounds, a condition referred to as hyperacusis. Concurrently, they may experience hearing impairment in different frequency ranges. For instance, while high-pitched sounds can be distressing for the child, lower-pitched sounds may not be heard clearly. This complexity can make it difficult to distinguish whether the challenges arise from hearing loss or other factors.

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        Although their hearing may be normal, a child with ASD may process sounds differently than other children. In addition,                     some kids may experience a slower brain response to sound.

 

 

 

A complete hearing test usually includes:

  • Ear Otoscopy (endoscopy, when necessary)

  • Otoacoustic Emission Test

  • Tympanometry

  • Auditory Brainstem Response

  • Multi-ASSR (auditory steady state responses) (29)

  • Pure-tone Air Conduction Hearing Test

  • Visual Reinforcement Audiometry

  • Conditioned Play Audiometry

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While the research shows that ASD can manifest through auditory and other sensory symptoms, it may still not be fully recognized by your local ENT doctor and audiologist. Despite this connection being well-documented, there is still limited understanding of auditory symptoms, auditory processing disorders, and hearing loss in individuals with autism spectrum disorder. (30)

Diagnostic Tools.

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While there is not a single behavioral or communication test that can detect ASD, several Autism-specific tools are being used for formal diagnosis. This includes the Autism Diagnostic Observation Schedule (ADOS), Second Edition (ADOS-2), the Childhood Autism Rating Scales (CARS), the Autism Diagnostic Interview (ADI-R), the Screening Tool for Autism in Toddlers (STAT), Ages and Stages Questionnaires (ASQ), Diagnostic and Statistical Manual of Mental Disorders (DSM-IV/V) and more (6,7).

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ADOS is widely considered the gold standard for a clinical (behavioral) diagnosis of autism,  distinguishing between autism and other developmental disorders. It is an activity-based assessment during which a trained clinician evaluates communication skills, social interaction, and imaginative use of materials in kids who are suspected to have ASD.

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The main reason for conducting the assessments is to evaluate developmental milestones, identify potential developmental delays in children in areas such as communication, social interaction, and motor skills, individualize intervention plan and monitor the progress.

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It is important to note that these tests should be integrated as part of a comprehensive assessment, rather than relied upon in isolation. Additionally, it's crucial to understand that these diagnostic tools evaluate only the behavioral manifestations of the child’s condition, rather than its underlying pathophysiology (35).

 

Besides hearing test and functional/cognitive vision assessment, further biomedical investigation may include EEG, neirosonography (NSG), MRI, fNIRS (8), and genetic testing. In addition, multi-marker diagnostic panels and specific tests are potentially useful and often included in clinical evaluation.

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           What is indisputable is that autism has many phenotypes (subtypes), while many different conditions are              all bunched together as “autism”.

 

 

 

About a quarter of reported autism cases represent genuine autism, characterized by brain abnormalities such as damage or malformation; often, such abnormalities were identified only through post-mortem brain studies. This subset forms the foundation of approximately 90% of autism research. The remaining three-quarters likely pertain to distinct conditions or factors.(9)

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Hence, various factors have been implicated in the pathogenesis of NDDs and ASD. Among them are:

  • Genetic and epigenetics (10,11,12)

  • Neurological abnormalities (e.g., dysregulation of neuronal formation, leading to ANS abnormalities (13), CNS damage)

  • Metabolic dysfunction

  • Mitochondrial dysfunction

  • Immune dysfunction (e.g., brain-directed autoantibodies, FRAa, cytokine level abnormalities)(24)

  • Immune abnormalities due to maternal inflammation and immune system activation (MIA) shortly before and during pregnancy (14,15)

  • Hypoxia (16)

  • Complications during pregnancy (e.g., gestational diabetis, maternal hormonal imbalance, sepsis)(34)

  • Hormonal dysregulation (17,18,19)

  • GI pathology and altered microbiota (20,21,22)

  • Nutritional abnormalities (e.g., heavy metal exposure, vitamin D deficiency, disrupted folate metabolism) (23, 24)

There is no conclusive blood test that can diagnose ASD. However, several metabolic abnormalities have been identified in ASD studies, suggesting that a metabolic workup should be considered on an individual basis. Please, be aware that the specific tests ordered can vary significantly depending on the physician's approach and expertise, leading to different sets of evaluations tailored to each child's unique needs. To view an example of the initial set of tests, please click here.

 

The purpose of examining biomarkers of pathways associated with ASD is to uncover potentially treatable metabolic issues and establish a baseline for ongoing monitoring. Each child may present with distinct metabolic variations related to SNPs, nutrient deficiencies, or exposure to toxins. Examples of metabolic disorders that can result in symptoms resembling autism include phenylketonuria (PKU), disruptions in purine metabolism, biotinidase deficiency, cerebral folate deficiency, creatine deficiency, and excessive propionic acid (31). The success of investigating different variations in patients with suspected ASD depends on the understanding of different phenotypes of known syndromes and metabolic disorders that overlap with ASD and defining a tailored biochemical and molecular evaluation plan catering to the needs of the individual patient based on their unique clinical information (32). There have been numerous papers published recently, outlining clinical diagnostic approaches in ASD. Here are just a few of them                  

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Biomarkers are not routinely utilized in clinical practice, as there is no validated biomarker specific to ASD. However, well-informed physicians do utilize various biomarkers as an objective way to identify and measure biological abnormalities for diagnostic purposes. Moreover, more biomarkers are showing promising preliminary evidence for prenatal and post-natal pre-symptomatic risk assessment, confirmation of diagnosis, subtyping, and treatment response (24).

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If you have a daughter with signs of severe autism, you, as a parent, should insist on genetic testing. For boys with ASD, you are less likely to find straight answers from genetic testing; however, it is absolutely worth doing. One more reason to perform a genetic test is because there is an overlap between cancer genes and autism genes (33). As of today, approximately 800 autism genes are associated with cancer.

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Now we understand that "autism" is just a group of symptoms, rather than a single disease. Due to its heterogeneity in etiology, phenotype, and outcome, individuals with autism show a vast clinical variability in the expression and severity of their symptoms. Since the specific cause of symptoms varies from person to person, it does make sense to investigate the exact issues in your child’s biochemistry that are involved in inducing the symptoms. This can potentially help to determine a possible cause of your child’s condition and identify the most effective interventions.

  References:

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  1. Robins, D. M-CHAT. https://www.mchatscreen.com/contact-2/

  2. Overview of Autism Spectrum Disorder. https://www.aap.org/en/patient-care/autism/

  3. Lipson, A. Early diagnosis of autism. (2014) https://thischangedmypractice.com/early-diagnosis-of-autism/

  4. Alawami, A., Perrin, E., Sakai, C. Implementation of M-CHAT Screening for Autism in Primary Care in Saudi Arabia. (2019) Global Pediatric Health. 6. 2333794X1985202. 10.1177/2333794X19852021.

  5. Genésio, I., Salgado, J., Gouveia, P.M., et al. Primary healthcare use of the modified checklist for autism in toddlers revised with follow-up in Portugal. (2023) Research in Autism Spectrum Disorders, Volume 107, 102219, ISSN 1750-9467. https://doi.org/10.1016/j.rasd.2023.102219.

  6. Levy, S., Wolfe, A., Coury, D. et al. Screening Tools for Autism Spectrum Disorder in Primary Care: A Systematic Evidence Review. (2020) Pediatrics April 2020; 145 (Supplement_1): S47–S59. 10.1542/peds.2019-1895H

  7. Randall M, Egberts KJ, Samtani A, Scholten RJPM, Hooft L, Livingstone N, Sterling‐Levis K, Woolfenden S, Williams K. Diagnostic tests for autism spectrum disorder (ASD) in preschool children. Cochrane Database of Systematic Reviews 2018, Issue 7. Art. No.: CD009044. DOI: 10.1002/14651858.CD009044.pub2.

  8. Clairmont, C., Wang, J., Tariq, S., Sherman, et al. The Value of Brain Imaging and Electrophysiological Testing for Early Screening of Autism Spectrum Disorder: A Systematic Review. (2022) Front. Neurosci. 15:812946. doi: 10.3389/fnins.2021.812946

  9. Lloyd-Thomas, P. Autism Phenotypes. (2013) https://www.epiphanyasd.com/2013/12/autism-phenotypes.html

  10. Manoli, D., State, M. Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms. (2021) The American Journal of Psychiatry. Volume 178, Issue 1. https://doi.org/10.1176/appi.ajp.2020.20111608

  11. Savatt, J., Myers, S. Genetic Testing in Neurodevelopmental Disorders. (2021) Front. Pediatr. 9:526779. doi: 10.3389/fped.2021.526779

  12. Eisenstat, D., Goldowitz, D., Oberlander, T., and Yager, J. Neurodevelopmental Pediatrics: Genetic and Environmental Influences. (2023) Springer Cham, https://doi.org/10.1007/978-3-031-20792-1

  13. Beopoulos, A., Géa, M., Fasano, A. and Iris, F. Autism spectrum disorders pathogenesis: Toward a comprehensive model based on neuroanatomicand neurodevelopment considerations. (2022) Front. Neurosci. 16:988735. doi: 10.3389/fnins.2022.988735

  14. Haddad, F., Patel, S., Schmid, S. Maternal Immune Activation by Poly I:C as a preclinical Model for Neurodevelopmental Disorders: A focus on Autism and Schizophrenia. (2020) Neuroscience & Biobehavioral Reviews, Volume 113, 2020, Pages 546-567, ISSN 0149-7634. https://doi.org/10.1016/j.neubiorev.2020.04.012.

  15. Sotgiu, S., Manca, S., Gagliano, et al. Immune regulation of neurodevelopment at the mother–foetus interface: the case of autism. (2020) Clin. Transl. Immunol., 9: e1211. https://doi.org/10.1002/cti2.1211

  16. Wang, B., Zeng, H., Liu, J. and Sun, M. Effects of Prenatal Hypoxia on Nervous System Development and Related Diseases. (2021) Front. Neurosci. 15:755554. doi: 10.3389/fnins.2021.755554

  17. Al-Zaid, F., Alhader, A. & Al-Ayadhi, L. Altered ghrelin levels in boys with autism: a novel finding associated with hormonal dysregulation. Sci Rep 4, 6478 (2014). https://doi.org/10.1038/srep06478

  18. Griffiths, J., Mishaal, R., Nabetani, M., Goldman, R. Oxytocin for the treatment of autism spectrum disorder in children. (2022) Can Fam Physician. Feb;68(2):103-105. doi: 10.46747/cfp.6802103.

  19. Varian, B., Weber, K., Erdman, S. Oxytocin and the microbiome. (2023) Comprehensive Psychoneuroendocrinology, Volume 16, 100205, ISSN 2666-4976, https://doi.org/10.1016/j.cpnec.2023.100205.

  20. Nitschke, A., Deonandan, R., & Konkle, A. The link between autism spectrum disorder and gut microbiota: A scoping review. (2020) Autism, 24(6), 1328-1344. https://doi.org/10.1177/1362361320913364

  21. Saurman, V., Margolis, K.G. & Luna, R.A. Autism Spectrum Disorder as a Brain-Gut-Microbiome Axis Disorder. (2020) Dig Dis Sci 65, 818–828. https://doi.org/10.1007/s10620-020-06133-5

  22. Morton, J., Jin, D., Mills, R. et al. Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles. (2023) Nat Neurosci 26, 1208–1217. https://doi.org/10.1038/s41593-023-01361-0

  23. Ding, M., Shi, S., Qie, S., Li, J., Xi, X. Association between heavy metals exposure (cadmium, lead, arsenic, mercury) and child autistic disorder: a systematic review and meta-analysis. (2023) Front Pediatr. Jul 4;11:1169733. doi: 10.3389/fped.2023.1169733.

  24. Jensen, A., Lane, A., Werner, B., McLees, S., Fletcher, T., Frye, R. Modern Biomarkers for Autism Spectrum Disorder: Future Directions. (2022) Molecular Diagnosis & Therapy (2022) 26:483–495. https://doi.org/10.1007/s40291-022-00600-7

  25. Miller, M., Sun, S., Iosif, et al. Repetitive behavior with objects in infants developing autism predicts diagnosis and later social behavior as early as 9 months. (2021) Journal of Abnormal Psychology, 130(6), 665–675. https://doi.org/10.1037/abn0000692

  26. Zhou, R., Xie, X., Wang, J., Ma, B., Hao, X. Why do children with autism spectrum disorder have abnormal visual perception? (2023) Front Psychiatry. May 15;14:1087122. doi: 10.3389/fpsyt.2023.1087122.

  27. Perreault, A., Gurnsey, R., Dawson, M., Mottron, L., Bertone, A. Increased sensitivity to mirror symmetry in autism. (2011) PLoS One. Apr 29;6(4):e19519. doi: 10.1371/journal.pone.0019519.

  28. Miron, O., Delgado, R., Delgado, C., Simpson, E. et al. Prolonged Auditory Brainstem Response in Universal Hearing Screening of Newborns with Autism Spectrum Disorder. (2020) Autism Research, 14(1), 46–52. https://doi.org/10.1002/aur.2422

  29. Seymour, R., Rippon, G., Gooding-Williams, G. et al. Reduced auditory steady state responses in autism spectrum disorder. (2020) Molecular Autism 11, 56. https://doi.org/10.1186/s13229-020-00357-y

  30. Gimlette, S., Stapleton, E. The interface of paediatric ENT and autism spectrum disorder: a complex conundrum for otolaryngologists. (2023) The Journal of Laryngology & Otology. 137(10):1083-1089. doi:10.1017/S0022215122001980

  31. Biomarkers in Autism. https://www.epiphanyasd.com/2015/10/biomarkers-in-autism.html

  32. Schaefer G.B., Mendelsohn N.J. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet. Med. 2013;15:399–407. doi: 10.1038/gim.2013.32.

  33. Nussinov, R., Yavuz, B. R., Demirel, H. C., Arici, M. K., Jang, H., & Tuncbag, N. Review: Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide. (2024) Frontiers in Cell and Developmental Biology, 12. https://doi.org/10.3389/fcell.2024.1376639

  34. Kosidou, K., Karlsson, H., Arver, S., Bhasin, S., Dalman, C., & Gardner, R. M. Maternal Steroid Hormone Levels in Early Pregnancy and Autism in the Offspring: A Population-Based, Nested Case-Control Study. (2024) Biological Psychiatry, 96(2), 147–158. https://doi.org/10.1016/j.biopsych.2024.02.1014

  35. Underlying Medical Issues in Autism. https://tacanow.org/family-resources/underlying-medical-issues-in-autism/ 

  36. Autism Medical Research. https://tacanow.org/family-resources/autism-medical-research/

The information provided on this website is intended for informational purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. The content is designed to offer general guidance and support but is not tailored to individual circumstances or specific health conditions. Always seek the advice of your physician, therapist, or other qualified healthcare professionals with any questions or specific concerns regarding health or medical conditions.

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