Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with NTRK1 Congenital Insensitivity to Pain Disorders

System/ConcernEvaluationComment
Anhidrosis Physical exam of the skinAssess for dry skin & palmoplantar hyperkeratosis (often assoc w/cracking); determine if individual is using skin moisturizer daily.
Regulation of body
temperature 		Inquire about history of hyperthermia or hypothermia.
Insensitivity
to pain 		Multiple unintentional injuries Physical exam of whole bodyAssess for bruises, cuts, & burns, as well as fingertip biting.
Orthopedic injuries Exam of bones & joints by an orthopedistAssess for fractures, avascular necrosis, septic arthritis/osteomyelitis, self-mutilation, joint subluxation, Charcot neuroarthropathy, leg length discrepancy, & scoliosis.
Dental risks for injury Exam for oral lesionsAssess for traumatic lingual injuries, burns, self-biting, auto-extraction of teeth, & overall dental health.
Neuropathic keratitis Ophthalmologic examAssess for superficial punctate keratopathy & corneal ulceration/perforation/infection.
Developmental delay Neurologic exam & standardized tests for developmental milestonesAssess for DD & ID, incl defects in conceptual thinking & abstract reasoning.
Behavioral problems Formal eval of cognitive & adaptive functionsAssess for social behaviors & emotional disturbances; ADHD.
Genetic counseling By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of NTRK1-CIPA in order to facilitate medical & personal decision making
Family support/resources Assess:

ADHD = attention-deficit/hyperactivity disorder; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance

1.

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

From: NTRK1 Congenital Insensitivity to Pain with Anhidrosis

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