Have you ever wondered if [x, y, z] is typical of a child with a disorder of the corpus callosum?
We’re hoping to answer these questions!
The DCC Lifespan Studies are a part of a research program from California Institute of Technology and University of Minnesota, studying the development of infants and children with disorders of the corpus callosum (DCC). We are seeking better ways to help children with DCC grow to their full potential by studying mental and behavioral development in infants and children with DCC. Over the last 10 years, we have collected data from over 500 individuals with a DCC and have published research on a range of aspects of development.
This is both a longitudinal and cross-sectional study, meaning that we track individuals of ages 6 months – 17 years over multiple years. This helps to highlight differences both within and between individuals, leading to a more nuanced overview of typicality.
(Click here to learn about adaptive functioning in infants with ACC!)
(Or here to learn about social and communication skills in infants with ACC!)
We are now beginning to utilize the plethora of “background” information, such as diagnosis information, medical history, developmental history, and more, in this natural history study. Natural history studies are a type of study that investigate the progression of a disorder over time. This is done by using anecdotal information from our participants to get a better idea of what is “typical” of DCC.
Our study includes information about:
- Callosal disorder diagnosis
- Corpus callosum diagnosis (pre- or postnatal)
- Diagnosis methods (scan type/age)
- Diagnosis over time (medical updates)
- Medical history
- Physical health (vision, hearing, cardiac, seizures, medications)
- Psychological health (ASD diagnosis, psychiatric diagnoses)
- Family background
- Family medical history (history of DCC or ASD)
- Demographic information (race, ethnicity, education, income)
- Pregnancy & birth history
- Conception
- Pregnancy complications (illness, physical trauma, medications, substance use)
- Delivery complications (breathing, infections, hospital stays)
- Development history
- Age of first word and steps
- Performance in school, social skills, sleep, feeding issues
Figure 1. Complications experienced during pregnancy of participant.
Figure 2. Complications experienced during delivery of participant.
Table 1. Newborn measurements of our sample and world comparison averages.
It’s important to take into account the context of these variables. Birth weight can be affected by many factors, such as gestational age or head circumference. Low birth weight by itself can indicate an issue, but it can also be the result of another, benign cause.
Figure 3. Birth weight (lbs) by gestational age at birth (weeks).
Figure 4. Birth weight (lbs) by head circumference at birth (cm).
Genetic Findings
Of our 490 participants, 388 (79.2%) have had genetic testing. Of those 388 participants, 80 (20.6%) have received notification of an abnormal genetic finding. Of the 80 participants who have an abnormal genetic finding, 33 (41.3%) have a genetic finding related to DCC.
Sensory Complications
Hearing
Of our 490 participants, 458 (93.5%) have had a hearing test. Of those 458 participants, 61 (13.4%) have had an abnormal hearing test result. Of the 61 participants who have an abnormal hearing test, 42 (68.9%) don’t know what type of hearing loss they’re experiencing, 13 (21.3%) have sensorineural hearing loss, 5 (8.2%) have conductive hearing loss, and 1 (1.6%) reported having both sensorineural and conductive hearing loss.
Vision
Of our verified sample (N=249), 102 (41%) reported visual abnormalities. 13 (12.8%) have Optic Nerve Hypoplasia, 10 (10%) have strabismus and/or amblyopia, and 31 (30.1%) have other visual abnormalities. Optic Nerve Hypoplasia is a congenital malformation that results in an underdeveloped optic nerve, which can cause visual loss. This malformation is commonly associated with DCC, especially in the context of Septo-Optic Dysplasia. Septo-Optic Dysplasia is a disorder in which an individual has malformations of at least two of the following: optic nerve, midline brain structures (e.g., corpus callosum), and pituitary gland.
Other than the primary impositions of sensory complications, there are secondary implications that should be considered as well. For example, issues with visual systems can affect depth perception, visual tracking, and acuity. Hearing issues can affect sound localization. Other sensory deficits can affect temperature regulation and pain sensitivity. Many physical and physiological symptoms discussed in this webinar can have further effects in other aspects of life experience.
Neurological Complications
Figure 5. Count of neurological complications reported.
Seizure
Seizure names are named for differing aspects of the seizure type. They can be named for the location in which they take place in the brain: focal onset (activity onset restricted to one part of the brain, but can spread to other parts of the brain), generalized (activity inhabits both hemispheres of the brain, can start as focal onset or can start as generalized). They can be named for the etiology (reason): febrile (seizure activity begins due to fever or illness) or afebrile (not caused by fever or illness). They can also be named for the symptoms exhibited during the seizure type: absence (lapse in consciousness), myoclonic (jerking of limbs), clonic (rhythmic convulsions), tonic (muscle stiffening), atonic (loss of muscle tone), and tonic-clonic (loss of consciousness, muscle stiffening, rhythmic spasms). These are the most common types, but this is not an exhaustive list.
Of our 490 participants, 82 (16.7%) have experienced at least one seizure. Of those 82 participants, 62 (75.6%) have experienced more than one seizure. Of the 62 participants who have experienced multiple seizures, 47 (75.8%) had multiple seizures in a one month span, at the height of their seizure activity.
Figure 5. Age at first seizure.
Figure 6. Type and count of seizures experienced.
Individuals with a DCC have a higher likelihood of having a seizure than those with a typically formed corpus callosum. So, it’s important to know what can increase that likelihood. Seizure triggers can include dehydration, lack of nourishment, stress, sleep deprivation, flashing lights, and substance use. This is not to say that these events will cause a seizure, but they can increase the risk.
The best thing to do to prevent seizures is to seek out professional interventions, such as seeing a neurologist or having an EEG done.
Takeaways
- A baseline is being established for our participants’ experiences.
- 16% have experienced a seizure, 41% report visual abnormalities, 16% have a significant genetic finding.
- The information covered here is the beginning of this story!
Presenters: Ella Bohlman, B.S. and Lynn K. Paul, Ph.D.
Part 2 of our 4-part Natural History Research Webinar Series: “Pregnancy, Birth and Medical Issues in DCC.” Natural History research helps bridge the gap between patient experience and professional expertise by transforming real-life stories into the empirical evidence that informs medical, therapeutic, and educational care. Through the NODCC Natural History Fellowship, sponsored by the NODCC, researchers are working to turn families’ experiences into knowledge that helps professionals better understand the wide range of outcomes in Disorders of the Corpus Callosum (DCC). This session focuses on medical history, including:
- Prenatal environment and maternal health
- Birth events such as complications or early delivery
- Physical features at birth (height, weight, head circumference)
- The status of key biological systems (sensory, motor, cardiac, pulmonary)
Whether you are a family member, self-advocate, clinician, educator, or researcher, this webinar will provide valuable insights into patterns that may shape early development and long-term outcomes in DCC.