ICNC Abstracts, ICNC 2018

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Gestalt Diagnosis of Children with Intellectual disability with Dysmorphism- Necessity for Establishing Genetic Diagnostic Approach.
Shaoli Sarker, Mustafa Mahbub, Narayan Saha, AZM AZAM, Humaira Rafiqa Quaderi, Shayla Imam Kanta, Sultana Razia, Fayaza Ahmed, Asma Hoque, Ahmed Asif Ferdous, Naila Zaman Khan

Last modified: 2018-09-09

Abstract


Background: Intellectual disability has several genetic factors. In Bangladesh, genetic diagnosis of the dysmorphic patients has not yet been well established. So gestalt diagnosis has a crucial role to establish differential diagnosis, management and counseling approach.

Objective: To correlate gestalt diagnosis of suspected genetic syndrome with intellectual disability and comorbidities.

Methods: A 6 months prospective data from December 2017 to May 2018 were analyzed. The study included children with  IDD and co-morbidities with dysmorphism attending Neurosciences OPD and Mental Health clinic of Dhaka Shishu(children) Hospital.

Results: Total 21 patients presented with dysmorphism. Mean age is 7.8 years. M: F ratio is 2.3:1.  70% rural .55% were from middle socioeconomic background. 40% has severe cognitive delay while 35% has moderate and 25% has mild cognitive delay. 70% has behavior problem and 55% has ASD and /or ADHD features. Seizure was present in 35% patients. Among other comorbidities; speech and language delay 65%, motor delay 50%, vision impairment 10%, hearing impairment 15 %. Suspected cases are : Noonan syndrome 4 , Angelman syndrome3, Fragile X syndrome 2, Kabuki syndrome 2 , Sotos syndrome 2.Remaining are Coffin-Lowry, Potocki-Lupski, Silver-russel, Waardenburg, Seckel, Laron ,Treacher –collin, Di-george syndrome and a case of homocystinuria. Genetic diagnosis could be established in only 2 patients.

Conclusion: The study emphasizes the necessity to approach gestalt diagnosis in syndromic children with ID along with locally available low cost genetic diagnostic facility thereby increasing the possibility of providing appropriate management and/or genetic counseling.


Keywords


Gestalt diagnosis,Intellectual disability,dysmorphism,co-morbidities

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