Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Niemann-Pick Disease Type C

System/ConcernEvaluationComment
Physical exam Document growth parameters & organomegaly.
Establish current level of disease severity.Use NPC clinical severity score 1 to document key features at diagnosis.
Neurologic
exam 		Assess for neurologic features incl spasticity, cataplexy, movement disorders, sleep disturbance, seizures.
  • MRI if not already performed
  • Consider sleep studies if history is suggestive.
  • Consider EEG if history is suggestive.
Developmental
assessment
for children 		Developmental assessment
  • Incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Cognitive
assessment 		Document baseline degree of cognitive impairment.
Bowel
dysfunction 		Medical history for signs/symptoms of constipation
Mobility / Activities of
daily living 		Assessment of mobility, balance, core stability, trunk control, spasticity, foot posture, & strength by suitably qualified PTAssess modifications for safety & improved independence.
Speech &
language 		Comprehensive communication eval by speech & language therapistAssess for need for speech therapy &/or Augmentative and Alternative Communication.
Nutrition/
Feeding 		Nutritionist / gastroenterology / feeding team
  • Clinical swallowing assessment in all affected persons
  • VFSS may be useful in some.
  • Assess need for dietary modification.
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Cognitive
assessment 		Document baseline degree of cognitive impairment.
Ophthalmology
exam 		Neuro-ophthalmologistDocument saccadic eye movement velocity & presence of vertical gaze palsy.
Hearing AudiometryTo document presence of hearing loss
Psychiatric eval Psychiatrist or mental health professionalAssess for psychosis, behavioral disturbances, depression.
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of NPC to facilitate medical & personal decision making
Family support
& resources 		Providers at specialized care centers, family physician/pediatrician, & local palliative care services should work closely w/affected persons & families/caregivers through life span, incl: (1) advance care planning w/regular updating; (2) proper flow of communication & info for affected persons & families; & (3) designated point of contact for each stage in care pathway.Assess need for:

MOI = mode of inheritance; PT = physical therapist; VFSS = videofluoroscopic swallowing study

1.
2.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Niemann-Pick Disease Type C

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