Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with White-Sutton Syndrome

System/ConcernEvaluationComment
Developmental
delay 		Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Motor delay 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)
Speech &
language 		Eval by SLP
  • Consider need for augmentative communication.
  • Assess for palatal abnormalities.
Psychiatric/
Behavioral 		Eval by developmental pediatrician &/or mental health professionalFor those age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Neurologic Neurologic eval
  • Consider brain MRI.
  • Consider EEG if seizures are a concern.
Eyes Ophthalmologic evalTo assess for refractive error & strabismus
Hearing Audiologic evalAssess for hearing loss.
Sleep disorders Eval for recognizable sleep disorders &/or sleep apneaConsider need for sleep study if history of suggestive symptoms
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in persons w/dysphagia &/or aspiration risk.
Genitourinary Eval for: genital abnormalities in males; CAKUT in males & femalesTo incl renal ultrasound exam
Growth Monitor height & weight.To assess for failure to thrive in infancy or obesity in older persons
Cardiovascular Baseline echocardiogramRecommended despite uncertainty re assoc of congenital heart disease in this disorder
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of White-Sutton syndrome to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; CAKUT = congenital anomalies of the kidney and/or urinary tract; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SLP = speech-language pathologist

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: White-Sutton Syndrome

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