Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Anhidrosis	Physical exam of the skin	Assess 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 body	Assess for bruises, cuts, & burns, as well as fingertip biting.
Orthopedic injuries	Exam of bones & joints by an orthopedist	Assess for fractures, avascular necrosis, septic arthritis/osteomyelitis, self-mutilation, joint subluxation, Charcot neuroarthropathy, leg length discrepancy, & scoliosis.
Dental risks for injury	Exam for oral lesions	Assess for traumatic lingual injuries, burns, self-biting, auto-extraction of teeth, & overall dental health.
Neuropathic keratitis	Ophthalmologic exam	Assess for superficial punctate keratopathy & corneal ulceration/perforation/infection.
Developmental delay	Neurologic exam & standardized tests for developmental milestones	Assess for DD & ID, incl defects in conceptual thinking & abstract reasoning.
Behavioral problems	Formal eval of cognitive & adaptive functions	Assess for social behaviors & emotional disturbances; ADHD.
Genetic counseling	By genetics professionals ¹	To inform affected persons & families re nature, MOI, & implications of NTRK1-CIPA in order to facilitate medical & personal decision making
Family support/resources	Assess: Use of community or online resources incl Parent to Parent; Need for social work involvement for parental support.

System/Concern

Evaluation

Comment

Anhidrosis

Physical exam of the skin

Assess 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 body

Assess for bruises, cuts, & burns, as well as fingertip biting.

Orthopedic injuries

Exam of bones & joints by an orthopedist

Assess for fractures, avascular necrosis, septic arthritis/osteomyelitis, self-mutilation, joint subluxation, Charcot neuroarthropathy, leg length discrepancy, & scoliosis.

Dental risks for injury

Exam for oral lesions

Assess for traumatic lingual injuries, burns, self-biting, auto-extraction of teeth, & overall dental health.

Neuropathic keratitis

Ophthalmologic exam

Assess for superficial punctate keratopathy & corneal ulceration/perforation/infection.

Developmental delay

Neurologic exam & standardized tests for developmental milestones

Assess for DD & ID, incl defects in conceptual thinking & abstract reasoning.

Behavioral problems

Formal eval of cognitive & adaptive functions

Assess for social behaviors & emotional disturbances; ADHD.

Genetic counseling

By genetics professionals ¹

To inform affected persons & families re nature, MOI, & implications of NTRK1-CIPA in order to facilitate medical & personal decision making

Family support/resources

Assess:

Use of community or online resources incl Parent to Parent;
Need for social work involvement for parental support.

From: NTRK1 Congenital Insensitivity to Pain with Anhidrosis

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