Craniofacial Morphological Features in Childhood Age with Autism Spectrum Disorder
Methods: This study included 66 children (50 boys, 16 girls) aged 6–10 years who were diagnosed with autism spectrum disorder. Three-dimensional facial scanning was performed after the removal of glasses, and anthropometric measurements were analyzed in relation to scores on the Gilliam Autism Rating Scale and the Turkish Communication Development Inventory.
Results: A significant association was found between increased head circumference and higher autism severity (P=0.035), with larger head size correlating with decreased forehead height, may suggest greater symptom severity in boys. No significant associations were observed in girls. Craniofacial metrics showed no association with language development in either gender.
Conclusions: Head circumference and forehead height have been identified as potential craniofacial indicators of autism severity in boys with autism spectrum disorder. These findings highlight the effectiveness of craniofacial phenotyping in clarifying the neurodevelopmental characteristics associated with autism. Future research, utilizing larger and more sex-balanced cohorts, is imperative to clarify these relationships and their potential diagnostic relevance.
1. Tan DW, Gilani SZ, Alvares GA, Mian A, Whitehouse AJO, Maybery MT. An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrum. Proc Biol Sci. 2022;289(1971):20220143. doi: 10.1098/rspb.2022.0143.
2. Alpert JS. Autism: A Spectrum Disorder. Am J Med. 2021;134(6):701-702. doi: 10.1016/j.amjmed.2020.10.022.
3. Fakhoury M. Autistic spectrum disorders: A review of clinical features, theories and diagnosis. Int J Dev Neurosci. 2015;43:70-77. doi: 10.1016/j.ijdevneu.2015.04.003.
4. Mazurek MO, Handen BL, Wodka EL, Nowinski L, Butter E, Engelhardt CR. Age at first autism spectrum disorder diagnosis: the role of birth cohort, demographic factors, and clinical features. J Dev Behav Pediatr. 2014;35(9):561-569. doi: 10.1097/DBP.0000000000000097.
5. Harm M, Hope M, Household A. Diagnostic and statistical manual of mental disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013. Anderson J, Sapey B, Spandler H, editors. Distress or disability? Lancaster: Centre for Disability Research; 2012. Available from: www.lancaster.ac.uk. Arya. 347, 64.
6. Weitlauf AS, Gotham KO, Vehorn AC, Warren ZE. Brief report: DSM-5 "levels of support:" a comment on discrepant conceptualizations of severity in ASD. J Autism Dev Disord. 2014;44(2):471-476. doi: 10.1007/s10803-013-1882-z.
7. Dosreis S, Weiner CL, Johnson L, Newschaffer CJ. Autism spectrum disorder screening and management practices among general pediatric providers. J Dev Behav Pediatr. 2006;27(2 Suppl):S88-94. doi: 10.1097/00004703-200604002-00006.
8. Wang L, Wang B, Wu C, Wang J, Sun M. Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy. Int J Mol Sci. 2023;24(3):1819. doi: 10.3390/ijms24031819.
9. Sanchack KE, Thomas CA. Autism Spectrum Disorder: Primary Care Principles. Am Fam Physician. 2016;94(12):972-979.
10. Junaid M, Slack-Smith L, Wong K, et al. Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study. Pediatr Res. 2022;92(6):1795-1804. doi: 10.1038/s41390-022-02024-9.
11. Lamanna J, Meldolesi J. Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies. Int J Mol Sci. 2024;25(4):2423. doi: 10.3390/ijms25042423.
12. Leow KQ, Tonta MA, Lu J, Coleman HA, Parkington HC. Towards understanding sex differences in autism spectrum disorders. Brain Res. 2024;1833:148877. doi: 10.1016/j.brainres.2024.148877.
13. Tutkuviene J, Cattaneo C, Obertová Z, et al. Age- and sex-related growth patterns of the craniofacial complex in European children aged 3-6 years. Ann Hum Biol. 2016;43(6):510-519. doi: 10.3109/03014460.2015.1106584.
14. Gu T, Zhang S, Xiao C, Hu S, Xiong X. Sex differences in craniofacial parameters of children and adolescents: a comparative study with the maturation of cervical vertebrae using a cephalometric method. J Clin Pediatr Dent. 2024;48(6):89-100. doi: 10.22514/jocpd.2024.129.
15. Ellingford RA, Tojo M, Basson MA, Andreae LC. Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex. ACS Chem Neurosci. 2024;15(8):1635-1642. doi: 10.1021/acschemneuro.3c00690.
16. Masson C, Cissé I, Simon V, Insalaco P, Audran M. Fabry disease: a review. Joint Bone Spine. 2004;71(5):38138-3. doi: 10.1016/j.jbspin.2003.10.015.
17. Diken IH, Diken O, Gilliam JE, Ardic A, Sweeney D. Validity and Reliability of Turkish Version of Gilliam Autism Rating Scale-2: Results of Preliminary Study. Int J Spec Educ. 2012;27(2):207-215.
18. Aksu-Koç A, Küntay AC, Acarlar F, et al. Türkçe’de Erken Sözcük ve Dilbilgisi Gelişimini Ölçme ve Değerlendirme Çalışması: Türkçe İletişim Gelişimi Envanterleri: TİGE-I ve TİGE-II. TÜBİTAK 107KO58 Projesi Sonuç Raporu [A Study on Measuring and Evaluating Early Vocabulary and Grammatical Development in Turkish: Turkish Communication Development Inventories: TİGE-I and TİGE-II. TÜBİTAK 107KO58 Project Final Report]. TÜBİTAK Yayınları. 2011. [Book in Turkish]
19. Martínez-Pedraza Fde L, Carter AS. Autism spectrum disorders in young children. Child Adolesc Psychiatr Clin N Am. 2009;18(3):645-663. doi: 10.1016/j.chc.2009.02.002.
20. De Giacomo A, Fombonne E. Parental recognition of developmental abnormalities in autism. Eur Child Adolesc Psychiatry. 1998;7(3):13113-6. doi: 10.1007/s007870050058.
21. Gray KM, Tonge BJ. Are there early features of autism in infants and preschool children? J Paediatr Child Health. 2001;37(3):221-226. doi: 10.1046/j.1440-1754.2001.00653.x.
22. Charman T, Swettenham J, Baron-Cohen S, Cox A, Baird G, Drew A. An experimental investigation of social-cognitive abilities in infants with autism: Clinical implications. Infant Ment Health J. 1998;19(2):260-275.
23. Rogers SJ, DiLalla DL. Age of symptom onset in young children with pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry. 1990;29(6):863-872. doi: 10.1097/00004583-199011000-00004.
24. Glascoe FP. Using parents' concerns to detect and address developmental and behavioral problems. J Soc Pediatr Nurs. 1999;4(1):24-35. doi: 10.1111/j.1744-6155.1999.tb00077.x.
25. Glascoe FP. Screening for developmental and behavioral problems. Ment Retard Dev Disabil Res Rev. 2005;11(3):173-179. doi: 10.1002/mrdd.20068.
26. Tripi G, Roux S, Matranga D, et al. Cranio-Facial Characteristics in Children with Autism Spectrum Disorders (ASD). J Clin Med. 2019;8(5):641. doi: 10.3390/jcm8050641.
27. Tan DW, Maybery MT, Gilani SZ, et al. A broad autism phenotype expressed in facial morphology. Transl Psychiatry. 2020;10(1):7. doi: 10.1038/s41398-020-0695-z.
28. Tan DW, Gilani SZ, Boutrus M, et al. Facial asymmetry in parents of children on the autism spectrum. Autism Res. 2021;14(11):2260-2269. doi: 10.1002/aur.2612.
29. Hammond P, Forster-Gibson C, Chudley AE, et al. Face-brain asymmetry in autism spectrum disorders. Mol Psychiatry. 2008;13(6):614-623. doi: 10.1038/mp.2008.18.
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Article Information
- Article Type Research Article
- Submitted February 21, 2026
- Published January 31, 2026
- Issue Volume 12 - Issue 2 (February 2026)
- Section Research Article
