McDermott JH1, Study DDD2, Clayton-Smith J3, Briggs TA4.
A diverse range of genetic aberrations can lead to Autistic Spectrum Disorder (ASD) and many of these have been identified via Next Generation Sequencing (NGS) as part of large scale consortium studies. ASD is a phenotypically variable disorder and detailed clinical descriptions are essential to appreciate genotype-phenotype relationships. In this report, we provide a comprehensive clinical description of a child with ASD in whom a TBR1 variant was identified. We review this case in the context of the current TBR1 literature and highlight the variable spectrum of disease associated with this gene. The phenotypic information outlined within the literature is incomplete, exemplifying the limitations of massively-parallel sequencing studies with regards to clinical annotation. We suggest that future reporting of ASD variants should include standardised phenotypic descriptions. This would develop a more thorough understanding of genotype-phenotype relationship, so allowing us to better counsel and support our patients.
Autism; Autism Spectrum Disorder; Language development disorders; Massively-parallel sequencing
Dr. Manish Bhatia
BHMS, BCA, M.Sc. Homeopathy (UCLAN, UK), CICH (IACH, Greece)
Dr. Manish Bhatia is the Founder Director of Hpathy.com, world’s leading homeopathy portal, serving homeopathy to more than half a million people every month. He is also Editor of Homeopathy for Everyone.
He runs a consultation office at Jaipur (Asha Homeopathy) and is one of the most well known Indian homeopaths globally. He has been practicing since 2001 and is helping Autism and other psychiatric patients since 2006. He was awarded Rajasthan’s foremost Raja Pajvan Dev Award For Excellence in the field of Medicine in 2015.
He has been working as an Asso. Professor of Organon of Medicine at S. K. Homeopathic Medical College since 2002. He was awarded with the prestigious APJ Abdul Kalam State Level Teacher’s Award in 2016. He has also given seminars and webinars in several countries of Europe, Americas and Australia.
He is the author of Lectures on Organon of Medicine Vol. I & II (English, Bulgarian, German editions), which are approved by the Central Council of Homeopathy (India) for BHMS and MD (Hom) syllabus. He is a contributing author to the book “Homeopathy and Mental Health Care: Integrative Practice, Principles and Research” and co-editor of “The Fireside Book of Homeopathy Tales.”