Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Saul-Wilson Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of HT, WT, & HCAssess for evidence of linear growth failure using SWS-specific growth charts.
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team evalAvoid overfeeding.
Development Developmental assessmentTo incl motor & speech/language eval
Musculoskeletal Refer to physiatry clinic (OT/PT, rehab specialist).To evaluate fine & gross motor skills, mobility, & activities of daily living
Refer to orthopedist.
  • Mgmt of clubfoot
  • Assess osteoarticular pain.
Obtain history of bone fractures.
Spine
  • Flexion-extension radiographs of lateral cervical spine
  • Flexion-extension MRI if instability & compression seen on radiographs or interpretation is limited (e.g., in young individuals w/delayed ossification of cervical vertebral bodies)
Evaluate for cervical instability & risk of spinal cord compression
Eyes Ophthalmologic evalTo incl assessment for rod-cone dystrophy in individuals old enough to cooperate:
  • BCVA
  • Refractive error
  • Assessment of dark adaptation
  • Full-field ERG
  • Spectral-domain OCT
Young children: assess visual acuity & refractive error as a baseline.
Children & adolescents: assess for cataracts.
Hearing Audiologic eval 1Assess for SNHL & conductive hearing loss.
Hematology Complete blood count w/absolute neutrophil countTo evaluate for neutropenia
Liver Aspartate aminotransferase, alanine aminotransferaseTo evaluate for ↑ liver enzymes
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselor
Family support & resourcesAssess need for:

BCVA = best-corrected Snellen visual acuity; BMD = bone mineral density; ERG = electroretinography; FTT = failure to thrive; HC = head circumference; HT = height; OCT = optical coherence tomography; OT = occupational therapy; PT = physical therapy; SNHL= sensorineural hearing loss; SWS = Saul-Wilson syndrome; WT = weight

1.

See Hereditary Hearing Loss and Deafness Overview for details about audiologic evaluations.

From: Saul-Wilson Syndrome

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