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Team led by OPWDD Institute for Basic Research Scientist publishes findings on KBG syndrome


Mon, Oct 17th 2022 03:45 pm

KBG Syndrome is a rare disorder affecting several body systems in people with developmental disabilities

√ Innovative use of artificial intelligence and secure videoconferencing helped to better characterize the disease and inform treatment

Submitted on behalf of the New York State Office for People With Developmental Disabilities

The New York State Office for People With Developmental Disabilities' (OPWDD) Institute for Basic Research in Developmental Disabilities (IBR) announced recently published findings from its study of the rare disease KBG syndrome.

This international, multidisciplinary research team, which was led by OPWDD geneticist and psychiatrist Gholson Lyon, M.D., Ph.D., has published its findings in the article "KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients," in the European Journal of Human Genetics, the official journal of the European Society of Human Genetics.

Other institutions on the team included Rheinische Friedrich-Wilhelms-Universität Bonn, Germany; the University of Alberta, Edmonton, Alberta, Canada; Sistemas Genómicos, Valencia, Spain; Praxis für Humangenetik Tübingen, Germany; Filialpraxis für Humangenetik, Bielefeld, Germany; the University of Toronto, Ontario, Canada; and the Children’s Hospital of Philadelphia.

KBG syndrome affects numerous body systems, and common characteristics include unusual facial features, skeletal and neurobehavioral abnormalities, delayed speech and motor development, and mild to moderate intellectual disability. Some children with this syndrome have epilepsy, usually during childhood, varying from generalized or partial seizures to more complex forms, whereas others have electroencephalogram (EEG) abnormalities without signs of seizures.

This syndrome is caused by a mutation in the ANKRD11 gene or a loss of genetic material on chromosome 16q that involves the ANKRD11 gene. Mutations of this gene can occur spontaneously (i.e., with no family history) or be inherited in an autosomal dominant manner.

Kerri Neifeld, commissioner of OPWDD, said, “This study provides important new information about the characteristics of KBG syndrome that will inform the development of diagnostic and treatment approaches. Its innovative use of secure videoconferencing and artificial intelligence to gather patient data allowed access to a broad group of participants from inside and outside of the United States, and will be useful for broadening the understanding of results of future studies.”

The study, funded in part by OPWDD and the National Institutes of Health (NIH), used a protocol involving videoconferencing and artificial intelligence (AI) to collect and analyze data in about 25 individuals from 22 families from eight countries with diagnoses of the syndrome. Lyon interviewed and conducted visual assessments of participants via secure videoconferencing technology to better characterize the disease, and collected genetic reports, medical records including imaging, and photos from families. Data were uploaded to the Human Disease Gene website, and facial photos provided by the families were loaded into AI programs that use deep convolutional neural networks to build syndrome and patient classifiers.

Within the cohort, common physical traits were noted, and behavioral issues and global developmental delays were found to be widely present. Neurologic abnormalities including seizures and/or EEG abnormalities were found in 44% of individuals, suggesting that early detection and seizure prevention could be an important point of intervention. Almost 25% were diagnosed with attention deficit hyperactivity disorder, and 28%, with autism spectrum disorder.

Based on these findings, the researchers provided a set of recommendations regarding diagnostic and treatment approaches for KBG syndrome. These include early intervention with physical, occupational and speech therapies; growth hormone therapy; and upon diagnosis, EEG screening, with regular monitoring by a neurologist, and cardiac screening. Further research is needed to investigate frequent gastrointestinal symptoms and whether aggressive antibiotic treatment could prevent the hearing loss frequently found as a result of chronic ear infections commonly associated with the disease.

About OPWDD and IBR: The IBR is the research arm of OPWDD. It also provides clinical services and conducts educational programs. OPWDD is responsible for coordinating services for New Yorkers with developmental disabilities, including intellectual disabilities, cerebral palsy, Down syndrome, autism spectrum disorders, Prader-Willi syndrome, and other neurological impairments.

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