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

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

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