EC Neurology

Case Report Volume 17 Issue 1 - 2025

Deciphering Special Abilities in Apert Syndrome Using Neuropsychological Psychodiagnostics

Ashima Nehra1*, Ruchita Hazrati1, Rhythm Makkar1, Achal Srivastava2 and Minu Bajpai3

1Clinical Neuropsychology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India
2Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
3Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India

*Corresponding Author:Ashima Nehra, Clinical Neuropsychology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.
Received: November 18, 2024; Published: December 17, 2024



Apert syndrome (AS), an autosomal dominant malformation syndrome, is a rare congenital anomaly with peculiar skeletal presentations. It is caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). Relevant literature exists in studying comorbidities like dental abnormalities, hearing impairment, hyperhidrosis, cardiac, gastrointestinal malformations, and anomalies of the genitourinary tract. However, there is a lack of consensus on the impact of AS on the neuropsychological functioning of patients. The aim of the current case report was to present a novel case of a high functioning male with Apert Syndrome, and analyse the impact of ‘Nurture’ on Intelligence, perceptual and fluid reasoning, spatial processing and visual motor integration, set shifting, reaction time and executive functioning among other cognitive functions.

 Keywords: Apert Syndrome (AS); Fibroblast Growth Factor Receptor 2 (FGFR2); Neuropsychological Psychodiagnostics

  1. Tan AP and Mankad K. “Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies”. Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery2 (2018): 205-216.
  2. Kutkowska-Kaźmierczak A., et al. “Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling”. Journal of Applied Genetics 2 (2018): 133-147.
  3. Premalatha Kannan VP and Madhu. “Apert syndrome”. Journal of the Indian Society of Pedodontics and Preventive Dentistry4 (2010): 322-325.
  4. Datta S., et al. “Apert Syndrome”. The Journal of the Association of Physicians of India9 (2014): 845-848.
  5. Tan AP and Mankad K. “Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies”. Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery2 (2018): 205-216.
  6. de Ângelis Ramos D., et al. “Apert syndrome without craniosynostosis”. Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery3 (2019): 565-567.
  7. Moloney DM., et al. “Exclusive paternal origin of new mutations in Apert syndrome”. Nature Genetics1 (1996): 48-53.
  8. Henning MAS., et al. “Treatment of Hyperhidrosis: An Update”. American Journal of Clinical Dermatology5 (2022): 635-646.
  9. Shipster C., et al. “Speech and language skills and cognitive functioning in children with Apert syndrome: a pilot study”. International Journal of Language and Communication Disorders3 (2002): 325-343.
  10. Wenger TL., et al. “Apert Syndrome”. In M. P. Adam (Eds.) et al., GeneReviews®. University of Washington, Seattle (2019).
  11. Yacubian-Fernandes A., et al. “Apert syndrome: factors involved in the cognitive development”. Arquivos de Neuro-Psiquiatria4 (2005): 963-968.
  12. Da Costa AC., et al. “Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles”. Annals of Plastic Surgery4 (2005): 450-455.
  13. Maximino LP., et al. “Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system”. Arquivos de Neuro-Psiquiatria12 (2017): 862-868.
  14. Fernandes AY., et al. “Apert syndrome: factors involved in the cognitive development”. Arquivos De Neuro-Psiquiatria4 (2005): 963-968.
  15. Renier D., et al. “Prognosis for mental function in Aperts syndrome”. Journal of Neurosurgery 1 (1996): 66-72.
  16. Patton MA., et al. “Intellectual development in Aperts syndrome: a long term follow up of 29 patients”. Journal of Medical Genetics 3 (1988): 164-167.
  17. Campis LB. “Children with Apert syndrome: developmental and psychological considerations”. Clinics in Plastic Surgery 2 (1991): 409-416.
  18. Maliepaard M., et al. “Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis”. Pediatrics6 (2014): e1608-e1615.
  19. Conrady CD., et al. “Apert Syndrome”. In StatPearls. StatPearls Publishing (2023).
  20. Kumar GR., et al. “Apert's Syndrome”. International Journal of Clinical Pediatric Dentistry 1 (2014):69-72.
  21. Das S and Munshi A. “Research advances in Apert syndrome”. Journal of Oral Biology and Craniofacial Research3 (2018): 194-199.
  22. Yacubian-Fernandes A., et al. “Apert syndrome: factors involved in the cognitive development”. Arquivos de Neuro-Psiquiatria4 (2005): 963-968.
  23. Da Costa Annette C., et al. “Neuropsychological diversity in apert syndrome: a comparison of cognitive profiles”. Annals of Plastic Surgery4 (2005): 450-455.
  24. Shipster C., et al. “Speech and language skills and cognitive functioning in children with Apert syndrome: a pilot study”. International Journal of Language and Communication Disorders3 (2002): 325-343.
  25. Nehra A., et al. “Role of clinical neuropsychology”. In: Prabhakar H, Singhal V, Zirpe KG, Sapra H. (eds) Principles and Practice of Neurocritical Care. Springer, Singapore (2024).

Ashima Nehra., et al. “Deciphering Special Abilities in Apert Syndrome Using Neuropsychological Psychodiagnostics”. EC Neurology  17.1 (2025): 01-07.