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