American Action Fund for Blind Children and Adults
Future Reflections Fall 2019 DIVERSITY
Optic Nerve Hypoplasia: Unraveling the Mysteries
by Christopher Sabine
From the Editor: In the National Federation of the Blind, we seldom focus on specific conditions that lead to blindness. What truly matters is the fact that a person's vision is low enough to require nonvisual methods for carrying out tasks that typically are performed with the help of sight. In some instances, however, a particular diagnosis may involve a constellation of disabilities in addition to blindness. Such disabilities can pose some unique challenges. In this article Christopher Sabine looks at one of the most prevalent causes of blindness in children in the U.S., optic nerve hypoplasia, or ONH. Chris has been a member of the NFB of Ohio since 2014, and he serves as secretary of the Cincinnati Chapter.
As a blind adult and a member of the National Federation of the Blind, I am amazed by the diversity within our organization. We represent a wide variety of cultures, and we come from all walks of life. We have a tremendous capacity to absorb new ideas and perspectives.
The Federation promotes such skills of blindness as Braille, assistive technology, and independent travel with the long white cane. In the Federation we also encourage a set of daily living skills and social skills necessary for blind children to become successful, productive adults. We recognize that a confident, positive attitude, willingness to take risks, and the ability to adapt to change are all essential for a blind child to grow into a successful, competent blind adult.
Blind children are as unique, wonderful, and complicated as any other children. However, I believe that some blind children experience developmental challenges that are not related to their blindness per se, but are a part of the underlying condition of which blindness is a characteristic. Some children who receive (or do not receive) blindness instruction in the educational system also have autism, behavioral disorders, chronic health conditions, or developmental disabilities. These additional challenges can have a huge impact on the ability of these children to learn the skills of blindness and thrive in the general educational environment. I believe it is vital that we do all that is possible to enable these children to learn the values and skills they need in order to live the lives they want. As an example, I would like to share a bit about my own life.
I was born with optic nerve hypoplasia (ONH), which is the underdevelopment of one or both optic nerves during pregnancy. Once considered a rare disorder, ONH is now one of the leading causes of childhood blindness in the United States and some other Western countries. Optic nerve hypoplasia is typically bilateral, affecting both eyes, and this is true in my case. The condition can also occur in one eye, known as unilateral ONH.
The underlying process that leads to the birth of a child with ONH also can affect adjacent structures of the midline brain. Therefore, children with ONH may experience a range of medical complications, developmental delays, and behavioral characteristics. According to a leading article published by the Keck School of Medicine at the University of Southern California, between 60 and 80 percent of children with ONH have deficiencies in their ability to produce one or more vital hormones. These include growth hormone and thyroid hormone, which are both essential for growth and metabolism, and cortisol, which enables the body to respond properly to physical or emotional stress or illness. Children and adults who are unable to produce these and other hormones must be seen regularly by an endocrinologist, and most require daily hormone replacement.
According to the same article, 71 percent of children with ONH exhibit developmental delays. Global developmental delays, sensory processing disorders, sleep disturbances, attention difficulties, and seizure disorders are common in children with ONH. However, these conditions are seen much less frequently in adults with this diagnosis.
Sensory processing disorder (SPD) is a catch-all term used by occupational therapists and other health-care professionals to describe difficulties processing input through the senses. In my case, sensory processing issues made learning Braille an arduous task. Furthermore, I did not master such fine-motor skills as tying shoes and buttoning shirts until I was in my teens. Food aversions are common in people with SPD, often related to the inability to tolerate certain food textures. SPD may also involve delays in the development of oral-motor movements such as the ability to swallow solid foods. For further information about sensory processing disorders, I recommend Carol Stock Kranowitz's comprehensive and easily accessible book, The Out-of-Sync Child.
Recent studies as well as anecdotal reports from families and professionals also point to an increased incidence of autism spectrum disorders and autism-like behaviors in children with ONH. However, the assertion that blind children with ONH are prone to autism is problematic. No clinical screening tool is available for diagnosing autism spectrum disorders in blind children. Nearly all screening instruments used to test for autism spectrum disorders were developed based on a population of typically sighted children. Furthermore, a high percentage of children on the autism spectrum are considered to be primarily visual learners, based on diagnostic and testing criteria established by sighted, typically developed clinicians and evaluators. Our understanding of how blind children process information using brain structures typically associated with visual processing is in its infancy.
When a blind child rocks, engages in constant, rhythmic hand-flapping, or repeats words or phrases in a sing-song voice, we cannot say with clinical certainty that the child's behavior indicates autism. The symptoms may be related to factors that are specific to the experiences of a blind child. For this reason, some clinicians are reluctant to diagnose autism spectrum disorder in a child who is blind. Nevertheless, studies suggest that 46 percent of children with ONH display significant autistic behaviors or could qualify for a clinical diagnosis of an autism spectrum disorder, independent of visual acuity. This finding suggests a neurological basis for the presence of a clinically significant autism spectrum disorder in many children with ONH.
Children with ONH often need intensive services from disciplines such as occupational and speech therapy as well as the more typical instruction in Braille, cane travel, and assistive technology, to alleviate developmental delays or behaviors associated with the autism spectrum. These services are insufficient or nonexistent in most school systems.
When I was born my family had no knowledge of the autism spectrum or of sensory processing difficulties. When I was about six months old, I began looking directly into the sun, and my parents suspected that I was blind. My mother took me to a local ophthalmologist, who diagnosed me with ONH. While I understood what my mother was saying at ten months, I did not speak until I was three years old. My mother remembers that my speech delay was due to my difficulty coordinating the muscles of my mouth to produce intelligible sounds. Such speech delays are not uncommon in children with ONH. When I finally did speak, I spoke in complete sentences.
For as far back as I can remember, I was obsessed with certain sounds and with topics related to sound and music. My primary interest was the sound of telephone switches from different exchanges. (This was back in the days of rotary dial and touch-tone land lines.) I learned every area code in North America, and I could tell where a person was calling from by the sounds of the local and long-distance switching equipment. I spent hour upon hour dialing numbers and listening to the sounds of calls as they traversed the network. I know of a few blind people who gained some notoriety for this area of expertise, but obsessing on telephone exchanges was not a way for me to make many friends. This didn't matter much to me, though, as I had no real interest in interacting with kids my own age.
I also loved beeping electronic games, and I spent hours playing with my electronic toys. One of my favorites was the Speak and Spell, a handheld educational toy designed to help children learn spelling. A synthetic male voice would speak a word, and you would spell it on a keyboard. Add-on modules contained more challenging vocabulary and other games. In short, I craved anything that gave me immediate auditory feedback—especially if it was musical or electronic. Indeed, my favorite word throughout much of my childhood was "beep."
I had perfect musical pitch and learned to play the piano when I was four. However, I lost my musical skill after I started attending first grade at my local elementary school. I also had an exceptional autobiographical memory, and I could compute difficult math problems in my head.
Braille and fine motor skills were another matter entirely. I attended a preschool and kindergarten program for blind students at a public elementary school, and I had one of the best TVIs (teachers of the visually impaired) in our state. Nevertheless, my first attempt to learn Braille was a nightmare. The letters on the Braille page felt rough and abrasive, and remembering how dots were supposed to form letters was laborious. Processing the Braille code was a tedious, frustrating ordeal, and I physically resisted my teachers' efforts to run my hands over the Braille page. This reaction is sometimes referred to as tactile defensiveness. It is common in children with ONH due to delayed information and sensory processing. I remember one incident where I became so frustrated trying to read the word horse that I had a crying meltdown and refused to cooperate with my teacher.
Like many children with ONH, I also dealt with behavioral challenges and difficulties with self-regulation, some of which I still face to this day. My behaviors included rocking, hand-flapping, picking at scabs, and crying when I was frustrated, anxious, or overstimulated. Although I have outgrown many of these behaviors, impulse control and behavior management still take conscious effort.
My family and I decided to abandon Braille about midway through my first-grade year in favor of a closed-circuit television and recorded books. Through high school I attended regular education classes in my local school district, where I was the only blind student. I was the school's human calculator, but reading print for any length of time was frustrating and physically exhausting for me. While I had a few friends in grade school, I had trouble relating to peers—particularly if the play was not on my own terms.
I received occupational and speech therapy as well as orientation and mobility instruction until I was in eighth grade. I also attended a summer youth program for three years at the Clovernook Center for the Blind and Visually Impaired. There I learned most of the daily living, communication, and travel skills I use to this day—including dressing, tying my shoes, and using a long white cane. I learned to use our local bus system, and I was introduced to screen readers and other assistive technology.
During my freshman year of high school, after I had finished my third year in the summer youth program, something curious happened. I noticed that many fine motor skills, such as plugging in appliances, were suddenly much easier for me to perform than they had been in the past. It was as if I had downloaded external software into my brain that enabled me to perform these tasks. I finally learned Braille in much the same way. I sought out Braille instruction the summer after my freshman year of high school from a local agency for the blind as part of a state program for blind youth transitioning to employment. I found that I could read the first ten letters of the Braille alphabet with ease after only one day, and I learned the rest of the alphabet within a month. Memories from my attempts to learn Braille in kindergarten and first grade came flooding back, as if my brain finally had become able to process my earlier experiences. With the support of a blind colleague who is now a teacher of the visually impaired and a leader in our state NFB affiliate, I began reading literary Braille and finished my first Braille novel, J.D. Salinger's The Catcher in the Rye.
While I still deal with aspects of ONH every day, I live as active a life as I can. I graduated cum laude from college and earned a master's in social work. I worked for three-and-a-half years as a service coordinator, helping youth with chronic health conditions and disabilities transition out of high school and develop plans for their futures. I now operate a consulting firm specializing in educational support and community referrals to families of children with ONH. In my business I apply the knowledge and skills I learned from my professional training and my personal experience as a blind adult with ONH.
Most children with ONH have the potential to lead successful and fulfilling lives, despite a fairly complex set of challenges. I am shocked and saddened at how many children with ONH are placed in segregated classrooms for children with more significant developmental disabilities. These placements are wholly inappropriate for the majority of children with ONH, who have the capacity to achieve far beyond the expectations of many of the professionals who work with them.
I believe that children with ONH and other etiologies of blindness can benefit from many of the educational supports geared toward children on the autism spectrum. These supports emphasize social skills, reading and reacting appropriately to nonverbal cues, and managing or eliminating socially unacceptable behaviors. For me, learning to conduct myself in a socially acceptable manner has taken an ongoing, conscious, and concerted effort.
How can the National Federation of the Blind promote equality, security, and opportunity for children and adults with ONH, or indeed, for all blind people who have disabilities in addition to blindness? We have amassed a comprehensive body of knowledge of best practice in teaching and mentoring blind children and adults. We have found ways to encourage tactile fluency and Braille literacy, and we have developed and advocated for equal access to information. We have championed the use of structured discovery for travel in a wide variety of unfamiliar and complex environments. All of this knowledge has been developed and disseminated by the blind speaking for ourselves. However, though the Federation has a division for people who are deaf-blind, knowledge about how to raise, educate, and foster the development of blind children with other disabilities is still very limited.
I believe we need to educate ourselves about the most effective strategies to help people with a variety of medical, behavior, and learning characteristics. We must find ways to help them develop the skills and attitudes they need to achieve their dreams. We have made monumental strides to develop and advocate for the supports necessary for blind people, but don't let us forget the blind child who operates on the autism spectrum or the child who needs extra support to learn Braille. Let us help the blind child who has trouble interacting with blind or sighted peers.
Blind people with other disabilities can teach us a great deal about alternative means of living our everyday lives, and about blindness itself. I believe it is important that we collaborate with professional and consumer organizations that serve other disability groups. From children and adults with disabilities such as autism and complex medical conditions we can learn a great deal about how people with diverse experiences develop their capabilities.
Finally—and most importantly—I believe that we need to promote high expectations for all children and adults who are blind, including those who have other disabilities or alternative learning characteristics. One of the great guiding philosophies of the National Federation of the Blind is that blindness is not the characteristic that holds a person back. We live this philosophy every day of our lives as Federationists, and we instill it into all the work we do. We view blind people as inherently capable of benefiting from education, engaging in fulfilling careers, raising families, and enjoying all that life has to offer. Similarly, the emerging neurodiversity movement is predicated on the right of those with autism spectrum disorders and other neurological differences to speak for themselves, achieve equality, and live meaningful and productive lives.
REFERENCES
Fink, C. and Borchert, M. (2011) "Optic Nerve Hypoplasia and Autism: Common Features of Spectrum Diseases." Journal of Blindness & Visual Impairment. 105 (6), 334-338.
Kranowitz, C.S. (2005) The Out-of-Sync Child. New York: TarcherPerigee.
Ryabets-Lienhard, A., Stewart, C., Borchert, M. et al. (2016) "The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines." Advances in Pediatrics, 63, 127-146.
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