A Child with Aarskog Scott Syndrome and Autism Spectrum Disorder

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is increasingly common in society, characterized by limitations in social communication and some repetitive behaviors. Many genetic factors such as genetic syndromes and single gene mutations and many environmental factors play a role in the etiology of ASD. Many genetic syndromes accompanying ASD have been reported. Aarskog-Scott Syndrome is a rare genetic disorder characterized by facial, digital, and genital anomalies, including a broad upper lip, anteverted nostrils, ptosis, hypertelorism, shawl scrotum, short stature, flat feet, and genu recurvatum. Cases with learning difficulties, hyperactivity, or cognitive retardation have been reported to date with Aarskog Scott syndrome. However, to our knowledge, one case report of ASD and Aarskog Scott syndrome has been reported. In this report, we will present a case with Aarskog Scott syndrome and Autism Spectrum Disorder.

Keywords

• Autism
• Aarskog Scott syndrome
• Genetic
• Syndrome

References

1. American Psychiatric Association (APA) Diagnostic and statistical manual of mental disorders. 5. Baskı (DSM-5). Washington DC, American Psychiatric Association. 2013.
2. Maenner MJ. Prevalence and characteristics of autism spectrum disorder among children aged 8 years—Autism And Developmental Disabilities Monitoring Network, 11 sites, United States, 2020. MMWR Surveillance Summ. 2023;72.
3. Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J. Autism spectrum disorder. Lancet. 2018;392(10146):508-520.
4. Gulcu NS, Karayagmurlu A. ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder. Dusunen Adam J Psychiatry Neurol Sci. 2019;32:355-358. doi:10.14744/DAJPNS.2019.00051
5. Karayagmurlu A, Gokcen C, Varan C. Morning glory syndrome and autism: A case report. Dusunen Adam J Psychiatry Neurol Sci. 2015;28:167-170.
6. Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr. 1970;77(5):856-861.
7. Scott CI. Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome. Birth Defects Orig Artic Ser. 1971;7(6):240-246.
8. Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, et al. A mutation in the pleckstrin homology (PH) domain of the FGD1 genein an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome). FEBS Lett. 2000;478:216-220.

9. Teebi AS, Rucquoi JK, Meyn MS. Aaskog syndrome: report of a family with review and discussion of nosology. Am J Med Genet. 1993;46:501-509.
10. Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, et al. Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A. 2010;152A:313-8.
11. Al-Semari A, Wakil SM, Al-Muhaizea MA, et al. Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. Clin Dysmorphol. 2013;22(1):13-17. doi:10.1097/MCD.0b013e32835b6dc4
12. Fryns JP. Aarskog syndrome: The changing phenotype with age. Am J Med Genet. 1992;43(1-2):420-427. doi:10.1002/ajmg.1320430164
13. Assumpcao F, Santos RCS, Rosario M, Mercadante M. Autism and Aarskog syndrome. J Autism Dev Disord. 1999;29(2):179-181. doi:10.1023/A:1023005029949
14. Gassaloğlu Sİ, Baykara B, Avcil S, Demiral Y. Çocukluk Otizmi Derecelendirme Ölçeği Türkçe formunun geçerlik ve güvenilirlik çalışması. Türk Psikiyatri Dergisi. 2016;27(4):266-274.
15. Zenker M, Edouard T, Blair JC, Cappa M. Noonan syndrome: Improving recognition and diagnosis. Arch Dis Child. 2022;107(12):1073-1078. doi:10.1136/archdischild-2021-322858