Learning the Symptoms: Read to Learn

Bosch-Boonstra-Schaaf optic atrophy syndrome & Autism Spectrum Disorder (ASD)

*Overall, 80% of those diagnosed with Bosch- Boonstra-Schaaf optic atrophy syndrome have been diagnosed with Autism spectrum disorder or exhibit features of the disorder.

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*Autism is a neurodevelopmental disorder characterized by:

  • Social impairments
  • cognitive impairments
  • communication difficulties
  • repetitive behaviors

Because Autism is a spectrum disorder, it can range from very mild to very severe and occur in all ethnic, socioeconomic and age groups. As they say, when you have met one person with ASD, you’ve met one person with ASD.

A Person with Autism Might:

  • Not respond to their name
  • Not point at objects or things of interest
  • Not play “pretend” games
  • Avoid eye contact
  • Want to be alone
  • Have no speech or delayed speech
  • Repeat words or phrases
  • Have repetitive behaviors
  • Have intense interest in one topic or activity
  • Have low to no social skills
  • *Teach you their unique perspective of life!
  • *Show you genuine love and joy in many different ways!
  • * Learn to live in our world if we learn to live in theirs.

* National Autism Association

*BBSOAS and ASD parent

Bosch-Boonstra-Schaaf optic atrophy syndrome & Speech and Language Impairment

*Speech and Language Impairment is one of the most common clinical features of BBSOAS. Overall, 91% of those diagnosed have a speech delay with 42% of those being preverbal.

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*Speech is how we say sounds and words. People with speech problems may:

  • not say sounds clearly
  • have a hoarse or raspy voice
  • repeat sounds or pause when speaking, called stuttering

*Language is the words we use to share ideas and get what we want. A person with a language disorder may have problems:

  • understanding
  • talking
  • reading
  • writing

*Types of Speech & Language Disorders

  • Apraxia of Speech: A severe speech disorder characterized by an inability to speak, or a severe struggle to speak clearly.
  • Expressive Language Disorder: People with expressive language disorder have difficulty conveying or expressing information in speech, writing,sign language or gesture.
  • Receptive Language Disorder: A receptive language disorder is a condition in which a person has trouble understanding and processing words.
  • Other Common Speech and Language Disorders: Stuttering (stammering), Dysarthria (slurred speech), Lisping, Spasmodic Dysphonia (causes the voice to break or sound strained), Muteness and Selective Mutism

*Some early signs and symptoms of childhood Apraxia:

  • Limited babbling, or variation within babbling
  • Limited phonetic diversity
  • Inconsistent errors
  • Omissions, particularly in word initial syllable shapes
  • Vowel errors/distortions
  • Excessive, equal stress
  • Loss of previously produced words

*Some common expressive language disorder symptoms:

  • Making grammatical errors
  • Using noticeably fewer words and sentences
  • Using shorter, simpler sentence construction
  • Having a limited vocabulary
  • Frequently having trouble finding the right word
  • Using non-specific vocabulary
  • Using the wrong words in sentences
  • Relying on standard phrases

*Children with a receptive language disorder may:

  • Develop language slowly
  • Rarely be interested when people are talking
  • Have trouble following directions
  • Often misunderstand what was asked or said
  • Have a limited vocabulary and have trouble learning new words
  • Be able hear or see words but have trouble understanding their meaning

*American Speech-Language-Hearing Association

*Early intervention and continued speech therapy is the best treatment for speech and language disorders.

*Intermountain Healthcare

Bosch-Boonstra-Schaaf optic atrophy syndrome & Vision Impairment

*Overall, 90% of individuals with BBSOAS have been diagnosed with a visual impairment. Common visual impairments among individuals with BBSOAS include:

  • optic atrophy (82%)
  • alacrima (78%)
  • manifest latent nystagmus (52%)
  • optic nerve hypoplasia (49%)
  • cortical vision impairment (68%)

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

What is Optic Nerve Atrophy?

*Optic nerve atrophy (ONA) is mild to severe damage to the optic nerve that can adversely affect central vision,peripheral vision and color vision.

*American Association for Pediatric Ophthalmology and Strabismus

*Symptoms of Optic Nerve Atrophy:

  • Blurred vision
  • Difficulties with peripheral (side) vision
  • Difficulties with color vision
  • A reduction in sharpness of vision

*If your ophthalmologist suspects optic atrophy, he or she will examine your eyes with an instrument called an ophthalmoscope. The doctor will look at the optic disc, the point at the back of the eye where the optic nerve enters. In optic atrophy, the optic disc will be pale because of a change in the flow in the blood vessels. There is no cure or treatment for optic atrophy.


BBSOAS is considered a static encephalopathy and has not been shown to be progressive/degenerative. There is no progression of the eye phenotype known, including no known progression of optic atrophy.

*What is Alacrima?

Alacrima is an abnormal amount of reflex tearing (reduced tear production).

*https://pubmed.ncbi.nlm.5 nih.gov/29120068/

*Treatment for Alacrima:

Artificial tears can be used to alleviate the symptoms of alacrima. Consult your physician if you feel that a treatment plan is needed.


*What is Optic Nerve Hypoplasia?

Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small).


  • The development of the pituitary gland can also be affected in children with ONH. The pituitary makes and directs important hormones required for growth, energy control and sexual development.
  • Children with ONH may also experience sleep dysfunction, gastrointestinal distress, problems with hunger or thirst, difficulties with temperature regulation and autism spectrum disorder.

*Kellogg Eye Center Michigan Medicine

*American Association for Pediatric Ophthalmology and Strabismus

*Tests and Diagnosis:

ONH is diagnosed by an ophthalmologist, who will use an ophthalmoscope to look inside the eye to determine if the front surface of the optic nerve appears smaller than normal.



You will need to make sure your child is under the care of an endocrinologist, a doctor who specializes in hormone problems. In addition, an ophthalmologist should monitor your child’s vision on an ongoing basis.


*What is Nystagmus?

Nystagmus is an involuntary rhythmic side-to-side, up and down or circular motion of the eyes that occurs with a variety of conditions.


  • Fast, uncontrollable eye movements. Nystagmus can be:
    • side-to-side eye movements
    • up-and-down eye movements
    • circular eye movements


Tests & Diagnosis Patient history

  • Visual acuity
  • Refraction
  • Alignment and focus tests

Congenital nystagmus doesn’t require treatment, although the following may help improve vision:

  • eyeglasses
  • contact lenses
  • increased lighting

*What is Cortical Visual Impairment (CVI)?

  • CVI is a brain-based visual impairment where the eye’s connection to and in the brain

doesn’t work correctly.

  • Many kids with CVI often have completely healthy eyes. They simply have trouble processing what those healthy eyes are seeing.

10 Common Characteristics of CVI:

  • Color preferences (often red, yellow, saturated)
  • Need for movement (to elicit/sustain attention)
  • Visual latency (processing time)
  • Visual field preferences
  • Difficulty with visual complexity (array, target/object, multisensory, faces)
  • Need for/attraction to light
  • Difficulty with distance viewing
  • Atypical visual reflexes
  • Difficulty with visual novelty
  • Difficulty with visually guided reach

5 Facts about CVI:

  1. It is the most common cause of visual impairment in children in developing countries.
  2. It is the leading cause of congenital blindness (vision loss at birth) in the United States.
  3. It causes children with healthy eyes to have difficulty processing what they see.
  4. It causes children to display some unique visual behaviors commonly seen when there is damage to the brain’s visual system.
  5. It is typically diagnosed when abnormal visual responses can’t be attributed just to the eyes.

*Perkins School for the Blind

*Tests and Diagnosis:

In addition to a complete eye examination, objective measures of visual abilities should be done where feasible and by a pediatric neuro-ophthalmologist knowledgeable in CVI if possible.

Download Dr. Jane Edmond’s letter to eye-care providers with pertinent information specific to BBSOAS patients and eye exams.

*Rehabilitation and Education:

In all children with CVI, services of trained and experienced Teachers of the Visually Impaired are very important for the child’s development and education. Accommodations should be made to address the characteristics mentioned above that the patient lives with.

Referral of the child with CVI to state services for visually impaired children should be done promptly after diagnosis.

*Boston Children’s Hospital

Bosch-Boonstra-Schaaf optic atrophy syndrome & Epilepsy

*Epilepsy is a chronic disorder, the hallmark of which is recurrent, unprovoked seizures.

*Epilepsy Foundation

*Overall, 52% of individuals with BBSOAS have also been diagnosed with Epilepsy/Seizures.

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*Some Common types of seizures seen in individuals with BBSOAS:

  • Infantile Spasms
  • Focal Seizures
  • Absence Seizures
  • Generalized Clonic-Tonic Seizures
  • Atonic Seizures
  • Myoclonic Seizures

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*There are more than 40 different types of seizures. These are some common signs of a seizure:

  • Loss of consciousness
  • Loss of mobility
  • Trembling/shaking
  • Confusion/uncertainty
  • Loss of senses
  • Change in emotion/behavior
  • Incontinence

*Epilepsy Foundation

*Some people have patterns to their seizures (also called triggers). Some common triggers include:

  • Specific time of day or night
  • Sleep deprivation
  • At times of fevers or other illnesses
  • Flashing bright lights or patterns
  • Not eating well, low blood sugar

*To determine the type of seizures, neurologists will collect the patient’s medical history and perform medical testing such as:

  • Blood tests
  • EEG tests
  • Brain Imaging (possibly CT and MRI scans)

*Seizure medications are the most common treatment. Other treatment options may include:

  • Surgery
  • Neurostimulation devices
  • Dietary therapy

*Epilepsy Foundation

Bosch-Boonstra-Schaaf optic atrophy syndrome & Hypotonia

*Over 90% of those diagnosed with BBSOAS have hypotonia (low muscle tone)

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*Hypotonia means decreased muscle tone. It can be a condition on its own, called benign congenital hypotonia, or it can be indicative of another problem. It is usually detected during infancy (often referred to as “floppy baby”).

*Symptoms of Hypotonia may include:

  • Decreased muscle tone; muscles feel soft and doughy
  • Ability to extend limb beyond its normal limit (extreme flexibility)
  • Failure or delay in acquiring motor-related developmental milestones
  • Problems with feeding (inability to suck or chew for prolonged periods)
  • Shallow breathing
  • Under-active gag reflex

*Boston Children’s Hospital

*Your child’s doctor will obtain a medical history and perform a physical examination that will likely include:

  • A detailed muscle function and neurological examination
  • An assessment of motor and sensory skills
  • A balance and coordination assessment
  • A mental status assessment (child’s level of awareness and interaction)
  • Reflex and nerve function

*Treatment programs to help increase muscle strength and sensory stimulation programs are developed once the cause of your child’s hypotonia is established.Such programs usually involve physical therapy through an early intervention or school-based program among other forms of therapy.

*Boston Children’s Hospital

Download Dr. Schaaf’s letter to care providers regarding BBSOAS and the management of some of these symptoms.

Data and statistics regarding Bosch-Boonstra-Schaaf optic atrophy syndrome provided above are sourced from the paper Rech ME et al. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020;182(6):1426-1437. doi:10.1002/ajmg.a.61580 Epub 2020 Apr 10 unless otherwise footnoted.