Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder

Article type: Case Report

Authors: Lohiya, Nirali^{a; b; *} | Chalipat, Shiji^a | Lohiya, Nikhil^{a; c} | Malwade, Sudhir^d

Affiliations: [a] Dr. D Y Patil Medical College and Hospital, Pune, Maharashtra, India | [b] Division of Developmental & Behavioral Pediatrics, Silver Lining Pediatric Super speciality center, Nagpur, Maharashtra, India | [c] Division of Growth & Endocrinology, Silver Lining Pediatric Super speciality center, Nagpur, Maharashtra, India | [d] Department of Pediatrics, Dr. D Y Patil Medical College and Hospital, Pune, Maharashtra, India

Correspondence: [*] Corresponding author: Dr. Nirali Lohiya, Silver Lining Center for Growth, Development and Endocrine Care, 1^st Floor, Kamal Keshav Business Plaza, Central Bazaar Road, Nagpur-440010, Maharashtra, India. Tel.: +91 9712954649; E-mail: [email protected].

Abstract: PURPOSE:Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congenital malformations, intellectual developmental disorder, behavioral issues, and speech and language impairment. Thorough neuropsychological assessments in the case of CSS have been reported infrequently, and its subdomains are poorly defined. A detailed description of the clinical, neurocognitive, behavioral, socio-adaptive sequelae of the patient with CSS is provided. RESULTS:The clinical diagnosis in the patient was confirmed by genetic analysis, which identified the presence of mutation of ARID1B gene; the parents’ Sanger sequencing reported normal. The neuropsychological assessments revealed borderline intellectual functioning (IQ-75, verbal > performance) with a mild socio-adaptive deficit score of 64 as suggested by the adaptive scale. The behavioral profile reported that the child had significant difficulties in the attention subdomain with concern in social and thought subdomains. The child met the profile for mild severity of Autism Spectrum Disorder and did not meet the criteria for Attention Deficit Hyperactivity Disorder. In addition, the child had scholastic difficulties in reading and mathematical skills. CONCLUSION:Neurocognitive, behavioral, socio-adaptive functioning and comorbidity assessment in order to provide holistic management of such children after thorough evaluation is essential for their overall functioning.

Keywords: Coffin-Siris syndrome, developmental delay, neurocognitive, behavioral, socio-adaptive

DOI: 10.3233/PRM-210050

Journal: Journal of Pediatric Rehabilitation Medicine, vol. 15, no. 3, pp. 529-532, 2022