Neurologic

Epilepsy/Seizures

  • Consider an electroencephalogram (EEG) if seizures are suspected.
  • EEG studies have a high probability of showing abnormalities, however, we would recommend that the timing of this study be based on symptoms or clinical concerns for seizure activity (as management will more depend on clinical symptoms than EEG findings per se).

Brain Abnormalities

  • The highest incidence is in hypoplasia or aplasia of the corpus callosum
  • Consider brain MRI (without contrast) to evaluate for brain malformations if seizures are present, or if growth is not progressing steadily, or if there are focal abnormalities on the neurologic exam.
  • recommend neuroimaging at the point of any focal neurological symptoms or evidence of craniomegaly in children under 3 years with 8p differences.
  • If there are not focal changes or concerning patterns of head growth, imaging may be deferred until approximately age 3 to reduce the risks of anesthesia and to allow the assessment of complete myelination.

Behavior/Social/Developmental

  • Initiate evaluation for developmental therapies and services including Early Intervention.
  • Consider screening or asking about psychiatric or behavioral concerns. Consider evaluation for severe behavioral issues. Depending on the mood or behavioral issue, this might best be done by a pediatrician, child psychiatrist, developmental pediatrician, child psychologist, or behavioral specialist (or a combination thereof).
  • ensure referral to Early Intervention or other developmental support services for all patients at the point of 8p diagnosis. These services should be available in all communities in the U.S. until age 3 through Early Intervention and thereafter through the public schools system.

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.