I recently had the pleasure of hearing Dr. Mark Borchert speak at the Josephine Taylor Leadership Institute in Seattle. Although there is not enough room in this newsletter to share all of the information I learned. I just couldn’t wait to share a few highlights.
Dr. Borchert is the director of the Eye Birth Defects Institute and Eye Technology Institute in the Vision Center at Children’s Hospital in Los Angeles where he is the head of the Division of Ophthalmology. He is also an Associate Professor of Clinical Ophthalmology and Neurology at the Keck School of Medicine of the University of Southern California. Dr. Borchert is currently directing the world’s largest research study of optic nerve hypoplasia, now the single leading cause of blindness in infants in the United States and Europe.
One of the first topics was the use of the term “Septo-Optic Dysplasia” which Dr. Borchert would like to dissuade us from using because it implies that the Septum Pellucidum plays a role and the research actually shows that it’s not important. He suggests we use the term The Syndrome of ONH.
Isolated ONH is uncommon. The clinical associations for ONH include: Brain Malformations, Developmental Delay, Hypopituitarism, and Vision Impairment.
The research suggests that the Hypothalamus is a key part of what is miss-wired among ONH patients. Research also suggests that the hypothalamus plays a key role in the neurological wiring of children diagnosed with Autism.
The following are common factors in the history of ONH and Autism:
• Recent recognition
• Increased prevalence
• Similar incidence trajectories (their increase is parallel)
• Overlapping symptoms and signs
Dr. Borchert also shared that Autism is higher in the ONH population than it is in the general population indicating a risk factor.
The question: Is this behavior really autism? Factors to consider are: Inexperience by examiners with visually impaired children; Behaviors that are attributable to VI, neurological impairment, social-emotional deprivation; and Problems with diagnostic tools.
The tools used to diagnose Autism rely on highly visually-dependent joint attention behaviors (eye contact, referential eye gaze and pointing). Some factors considered in the scoring of these tools that are normal in blind children include:
• Repetitive behaviors (i.e. rocking)
• Language abnormalities (pronoun reversal)
• Orienting behaviors (smelling, touching)
Because of this, one of the research projects Dr. Borchert is working on with the ONH population is a completely non-visual Autism diagnostic tool.
Other ONH research topics Dr. Borchert is directing include:
• Clustering Analysis (both geographic and temporal)
• Prenatal/Maternal risk factors
• Thyroid hormone levels
• Sleep patterns
As we all know, the research Dr. Borchert is conducting is a high need in our field and he needs your help. He is creating a national database of patients diagnosed with ONH through a brief survey available online. Participation is voluntary and the data is protected by a NIH Certificate of Confidentiality. The survey can be found at www.onesmallvoicefoundation.org
I will have more information to share from Dr. Borchert in future newsletters but in the meantime, please encourage your families of children with ONH to complete the survey.