Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Primrose Syndrome

System/
Concern		EvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Speech
development 		Speech therapy evalDelayed speech is a major concern & should be addressed early.
Motor
development 		Orthopedics / 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)
Psychiatric/
Behavioral 		Neuropsychiatric evalPersons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Skeletal Skeletal surveyTo detect genu varus & valgus deformity & plan early correction
Hearing Brain stem evoked response audiometry pure tone audiogram
Endocrine
  • Blood glucose level incl fasting & post-prandial
  • Hemoglobin A1c
  • Oral glucose tolerance test
  • Serum TSH & free T4
Beginning at age 7 yrs; earlier if clinically indicated
Eyes Ophthalmology exam for cataract, ptosis, strabismus
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of Primrose 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; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Primrose Syndrome

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