Gestalt diagnosis of children with dysmorphism - Necessity for establishing genetic diagnostic approach

Abstract

Background: The overall prevalence of intellectual disability is approximately 2-3% in the general population and can be caused by genetic and environmental factors. Genetic factors include chromosomal anomalies, single-gene disorder, deregulation of imprinted genes, and multiple malformation syndromes without an identified genetic basis and idiopathic. In Bangladesh, the genetic diagnosis of dysmorphic patients has not yet been well established. Therefore, gestalt diagnosis has a crucial role in establishing the differential diagnosis, management, counseling, and genetic diagnostic approach. Aim of the study: The aim of the present study was to assess the effectiveness and necessity of gestalt diagnosis on the suspected genetic syndrome with intellectual disability and comorbidities. Methods: This prospective study was conducted at Dhaka Shishu Hospital during the period from December 2017 to May 2018. The study included 21 children with intellectual and developmental disabilities (IDD) who attended OPD and Mental Health Clinic of Dhaka Shishu Hospital, Dhaka, Bangladesh. Elaborate history taking, physical examination, and psychological assessment were done. The dysmorphic features were analyzed and correlated with syndromic diagnosis using OMIM search. Parents were counseled about the preferred genetic diagnostic tests to confirm the syndromic diagnosis. Prognosis of the index children and chance of recurrence in the next pregnancy was discussed when a particular syndrome was suspected. Informed written consent was taken from parents of every patient to use the photograph and data for diagnostic and academic purposes. Results: Among total participants, 40% had severe cognitive delay 35% had a moderate delay, 25% had a mild cognitive delay, 70% had behavior problems and 55% had ASD and/or ADHD features. The seizure was present in 35% of patients. Among other comorbidities; speech and language delay was in 65%, motor delay was in 50%, vision impairment was in 10%, hearing impairment was 15 %. Suspected cases were, Noonan syndrome: 4, Angelman syndrome: 3, Fragile X syndrome: 2, Kabuki syndrome: 2, Sotos syndrome: 2. Genetic diagnosis could be established in only 2 patients with suspected fragile X syndrome. Conclusion: The study emphasizes the necessity to approach gestalt diagnosis in syndromic children with IDD along with locally available low-cost genetic diagnostic facility thereby increasing the possibility of providing appropriate management and/or genetic counseling.