Table 5. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Diabetes mellitus	By diabetologist
Optic atrophy	Ophthalmologic eval	Assess extraocular movement, best corrected visual acuity, visual evoked potentials. Perform color vision testing, visual field testing, optical coherence tomography, fundus exam.
Optometry &/or low-vision clinic	Assess for low-vision aids.
Sensorineural hearing impairment	Audiologic exam Eval by speech-language therapist	Incl: Auditory brain stem responses to confirm pathology & provide baseline Evoked otoacoustic emissions to identify type of hearing impairment Audiogram Speech discrimination tests Assessment for hearing aids; children w/profound infancy-onset deafness may require cochlear implant.
Neurologic dysfunction	Neurologic exam incl brain MRI (if not performed previously)	Evaluate for: Motor system: coordination, balance, ataxia Sensory system: peripheral neuropathy Cranial nerves: anosmia, ability to taste, dysarthria, swallowing/choking difficulties, apneic episodes Autonomic system: hypotensive episodes, abnormal temperature regulation &/or sweating episodes Consider speech-language therapy, OT, PT assessments.
Respiratory function	Polysomnography	Central apnea can occur secondary to brain stem atrophy. Sleep disturbance is common & multicausal.
Psychiatric	Neuropsychiatric eval	Consider anxiety, depression eval. Although reported, psychoses are rare.
Neurogenic bladder	History of: urgency, frequency, difficulty voiding, urinary incontinence, recurrent infections	Refer to urologist. Consider urodynamic eval, imaging of urinary tract & kidneys for dilated ureters, & assessment of kidney function.
Bowel dysfunction	History of: constipation, urgency, accidents
Other endocrine findings	Diabetes insipidus	Assess concentrating ability of urine.	Paired early morning urine & fasting plasma osmolarity & sodium concentrations after nocturnal & morning euglycemia
Hypogonadism	Evaluate for absent or delayed puberty &/or infertility	Refer for assessment for primary gonadal failure &/or hypogonadotropic hypogonadism.
Hypothyroidism	Thyroid function tests	May be non-autoimmune
Growth restriction	Plot height, weight, & head circumference on standard growth charts.	To identify growth failure &/or provide baseline
Genetic counseling	By medical genetics health care professionals ¹	To inform affected persons & families re nature, MOI, & implications of WFS1-SD
Family support & resources	Contact w/patient advocacy organization Assess need for social work involvement for caregiver support. Assess need for help coordinating multidisciplinary care. Assess need for community resources & support/advocacy organizations (e.g., Parent to Parent).

System/Concern

Evaluation

Comment

Diabetes mellitus

By diabetologist

Optic atrophy

Ophthalmologic eval

Assess extraocular movement, best corrected visual acuity, visual evoked potentials.
Perform color vision testing, visual field testing, optical coherence tomography, fundus exam.

Optometry &/or low-vision clinic

Assess for low-vision aids.

Sensorineural
hearing impairment

Audiologic exam
Eval by speech-language therapist

Incl:

Auditory brain stem responses to confirm pathology & provide baseline
Evoked otoacoustic emissions to identify type of hearing impairment
Audiogram
Speech discrimination tests
Assessment for hearing aids; children w/profound infancy-onset deafness may require cochlear implant.

Neurologic
dysfunction

Neurologic exam incl brain MRI (if not performed previously)

Evaluate for:

Motor system: coordination, balance, ataxia
Sensory system: peripheral neuropathy
Cranial nerves: anosmia, ability to taste, dysarthria, swallowing/choking difficulties, apneic episodes
Autonomic system: hypotensive episodes, abnormal temperature regulation &/or sweating episodes

Consider speech-language therapy, OT, PT assessments.

Respiratory function

Polysomnography

Central apnea can occur secondary to brain stem atrophy.
Sleep disturbance is common & multicausal.

Psychiatric

Neuropsychiatric eval

Consider anxiety, depression eval. Although reported, psychoses are rare.

Neurogenic bladder

History of: urgency, frequency, difficulty voiding, urinary incontinence, recurrent infections

Refer to urologist.
Consider urodynamic eval, imaging of urinary tract & kidneys for dilated ureters, & assessment of kidney function.

Bowel dysfunction

History of: constipation, urgency, accidents

Other
endocrine
findings

Diabetes
insipidus

Assess concentrating ability of urine.

Paired early morning urine & fasting plasma osmolarity & sodium concentrations after nocturnal & morning euglycemia

Hypogonadism

Evaluate for absent or delayed puberty &/or infertility

Refer for assessment for primary gonadal failure &/or hypogonadotropic hypogonadism.

Hypothyroidism

Thyroid function tests

May be non-autoimmune

Growth
restriction

Plot height, weight, & head circumference on standard growth charts.

To identify growth failure &/or provide baseline

Genetic counseling

By medical genetics health care professionals ¹

To inform affected persons & families re nature, MOI, & implications of WFS1-SD

Family support
& resources

Contact w/patient advocacy organization
Assess need for social work involvement for caregiver support.
Assess need for help coordinating multidisciplinary care.
Assess need for community resources & support/advocacy organizations (e.g., Parent to Parent).

From: WFS1 Spectrum Disorder

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

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