Developmental delay is early and universal
About half had a formal autism diagnosis at some point (mainly because of absent language, stimulation/sensory-seeking behaviors)
Speech—majority have no expressive language to very limited language. There are exceptions.
Walking ranged from “on time” to some who have never walked. A broad, unsteady walk is common, especially at first. Stairs can be tricky.
Seizures—nearly all of the 19 have had them. Often start as febrile and will change over time. Management is a big issue.
Sleep—nearly all report some sort of sleep issue (waking in night, trouble getting back to sleep, seems to change with age)
Muscle tone: hypotoniaor “floppiness” is common early on. Dystonia and spasticity seem to come later in childhood for some.
GI issues: constipation, GERD, several with unexplained elevated liver enzymes. Most seem to be doing OK with feeding; a few young kids have g-tubes
Most not potty-trained or partially trained
Early delayed myelination or “hypomyelination” in several
Agenesis or “thin” corpus callosum
Several with small heads, some meeting definition of “microcephaly”
Iron can be recognizable during childhood
FIndings from 2016 BPAN Meeting Allison Gregory, MS, CGC
• Find the gene
• Build a patient registry and biosample library
• Make animal models
• Understand the disease
• Develop assays to test potential treatments
• Test drugs in animals
• Test drugs in people with BPAN
Building the patient and family registry
• Developing assays to measure autophagy in
• Testing an FDA-approved drug in those assays
• Finding ways to measure BPAN