Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

System/ConcernEvaluationComment
Neurologic Thorough neurologic exam w/attn to muscle tone, gait ataxia, hypo-/areflexia, ↓ sensitivity to pain
  • Perform EEG if history suggests seizures.
  • Brain MRI may be considered (after careful eval of risks of sedation/anesthesia in this patient population). 1
Developmental Perform developmental eval; assess for behavioral dysregulation & features of ASD.Refer for appropriate developmental support, special education, & ABA therapy if indicated.
Speech
impairment 		Speech-language pathologist
Activities of
daily living 		Physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastroenterology Evaluate for swallowing difficulties, gastroesophageal reflux, & constipation.
  • Consider swallow study for assessing dysphagia.
  • If dysphagia or aspiration are present, consider aspiration precautions (i.e., avoidance of certain food consistencies or nothing by mouth).
Respiratory Investigate for obstructive or central apneas, respiratory infections, &/or aspiration.
  • Baseline chest x-ray
  • Polysomnography
ENT Consider audiogram to assess for sensorineural impairment.
Ocular Assess for strabismus, eye movement abnormalities, & refractive errors.
Orthopedic Assess for scoliosis or kyphosis & evaluate need for supportive devices.
Cardiac Consider blood pressure monitoring & echocardiography in case of signs of pulmonary hypertension.
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of TECPR2-HSAN w/ID to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ABA = applied behavioral analysis; ADL = activities of daily living; ASD = autism spectrum disorder; HSAN = hereditary sensory and autonomic neuropathy; ID = intellectual disability; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

It is possible that the imaging spectrum in TECPR2-HSAN with ID is not fully appreciated at this time and that clinically relevant findings could be missed (e.g., there could be individuals with developmental brain malformations and seizures that are amenable to epilepsy surgery).

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability

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