Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with PI4KA-Related Disorder

System/ConcernEvaluationComment
Neurologic
  • Neurologic eval for spasticity, cerebellar signs, & dystonia
  • Brain MRI
  • EEG (Seizures may be subclinical.)
To evaluate for hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, &/or perisylvian polymicrogyria
Neurocognitive
development
  • Assessment by developmental pediatrician of developmental milestones, cognitive function, speech (communication) & feeding (swallowing)
  • Assessment by PT of functional disability & equipment needs
Multiple
intestinal atresia
  • Pediatric gastroenterology assessment
  • Abdominal radiographs
  • Further abdominal imaging as needed
Plain abdominal radiographs may reveal dilatated loops, & MRI may identify multiple strictures. Exploratory laparoscopy or laparotomy will ultimately be required if clinical signs suggest severe obstruction.
Inflammatory
bowel disease
  • Eval by gastroenterologist
  • CBC ± inflammatory markers (CRP)
  • Fecal calprotectin
  • Endoscopic investigations as indicated by symptomatology
There should be a lower threshold for IBD investigation in persons w/moderate-to-severe DD/ID in whom clinical findings could be consistent w/IBD & communication of abdominal symptomology may be challenging.
Immunodeficiency
  • Immunology assessment
  • Immunophenotyping incl lymphocyte subsets & immunoglobulins
  • Thymic ultrasound
  • Recommended in all persons w/PI4KA-related disorder as signs & symptoms may be subtle or subclinical
  • Lymphopenia w/disruption of epithelial barrier results in ↑ risk for pathogenic proliferation & sepsis.
Genitourinary
anomalies 		Consider renal (& pelvic) imaging.Assess for structural anomalies.
Hearing Audiologic assessmentAssess for hearing loss.
Vision Ophthalmologic assessmentAssess for nystagmus, ↓ visual acuity, optic nerve atrophy, strabismus, & ocular motor dyspraxia.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of PI4KA-related disorder to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

CBC = complete blood count; CRP = C-reactive protein; DD = developmental delay; IBD = inflammatory bowel disease; ID = intellectual disability; MOI = mode of inheritance; PT = physical therapist

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: PI4KA-Related Disorder

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