Table 6.

Recommended Surveillance for Individuals with RPS6KA3-Related Intellectual Disability

System/ConcernEvaluationFrequency
Development Monitor developmental progress & educational needs.At each visit
Neurobehavioral/
Psychiatric 		Behavioral assessment for ADHD, aggressive behavior, & ASD
Neurologic Monitor those w/SIDAs, spasticity, or seizures.Per treating neurologist
Assess for new manifestations of SIDAs & seizures.At each visit
Assess for new/worsening signs/symptoms of spinal canal narrowing, incl changes in tone, gait, & bowel/bladder habits, expression of pain, & focal neurologic changes such as clonus or abnormal tendon reflexes.
  • At each visit
  • Note: Persons w/calcifications of ligamentum flavum, particularly in cervical region, may require more careful surveillance. 1
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skillsAt each visit
Monitor those w/kyphoscoliosis or pectus deformity for progression.
  • Per treating orthopedist
  • Note: Skeletal maturity may be delayed, requiring longer than anticipated monitoring for progression. 1
Monitor for calcifications or hypertrophy of ligamentum flavum.
  • Per treating orthopedist
  • Note: Persons w/calcifications of ligamentum flavum, particularly in cervical region, may require more careful surveillance. 1
Cardiovascular Monitor those w/cardiomyopathy, valve dysfunction, or other abnormalities.Per treating cardiologist
Assess for new onset of cardiomyopathy.Even if initial echocardiogram is normal, it should be repeated every 5-10 yrs in light of uncertainty as to incidence & range in age of onset of cardiomyopathy. 2
Growth Monitor for development of obesity.At each visit
Dental Monitor those w/dental abnormalities; otherwise, routine eval as in general population but w/particular attention to ↑ risk of tooth loss.Per treating dentist
Hearing Monitor those w/hearing loss.Per treating otolaryngologist &/or audiologist
Ophthalmologic involvement Monitor those w/refractive errors, strabismus, blepharitis, & more complex findings (e.g., cataract, retinal pigment atrophy, optic atrophy).Per treating ophthalmologist(s)
Low vision servicesPer treating clinicians
Respiratory Monitor those w/sleep apnea.
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

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

1.
2.

From: RPS6KA3-Related Intellectual Disability

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