Table 6. [Recommended Surveillance for Individuals with...]. - GeneReviews®

System/Concern	Evaluation	Frequency
Neurologic	Neurologic exam for response to treatments & evidence of progression of existing findings or emergence of new findings Perform EEG if indicated.	Every 6 mos
Development	Monitor developmental progress & educational needs.
Respiratory	Pulmonary eval Consider venous blood gases.
Consider chest x-ray & sputum cultures. Consider echocardiography to monitor for pulmonary hypertension. Consider arterial blood gases.	Every 12 mos
Gastroenterology	Gastroenterology eval & consultation w/dietician	Every 6 mos
Consider swallow study (unless fed by gastrostomy).	Every 12 mos
Perform electrolytes & liver function tests.	Every 12 mos & also during intercurrent illnesses
Orthopedic	Orthopedic eval to assess for need for supportive devices (such as orthoses) & monitor for potential complications such as hip dislocation & scoliosis	Every 6 mos
Consider spine x-ray.	Every 12 mos
Sleep	Polysomnography study
ENT	ENT eval	In case of snoring or consistent tonsillar enlargement
Family/ Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit

System/Concern

Evaluation

Frequency

Neurologic

Neurologic exam for response to treatments & evidence of progression of existing findings or emergence of new findings
Perform EEG if indicated.

Every 6 mos

Development

Monitor developmental progress & educational needs.

Respiratory

Pulmonary eval
Consider venous blood gases.

Consider chest x-ray & sputum cultures.
Consider echocardiography to monitor for pulmonary hypertension.
Consider arterial blood gases.

Every 12 mos

Gastroenterology

Gastroenterology eval & consultation w/dietician

Every 6 mos

Consider swallow study (unless fed by gastrostomy).

Every 12 mos

Perform electrolytes & liver function tests.

Every 12 mos & also during intercurrent illnesses

Orthopedic

Orthopedic eval to assess for need for supportive devices (such as orthoses) & monitor for potential complications such as hip dislocation & scoliosis

Every 6 mos

Consider spine x-ray.

Every 12 mos

Sleep

Polysomnography study

ENT

ENT eval

In case of snoring or consistent tonsillar enlargement

Family/
Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

At each visit

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

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.