Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability

Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.