Table 7. [Recommended Surveillance for Individuals with Classic WFS1 Spectrum Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Diabetes mellitus	Glycemic control	Every 3 mos
Complications of diabetes mellitus	Nephropathy	Annual screening starting at age 12 yrs
Retinopathy	In those w/duration of diabetes ≥5 yrs: annual screening
Neuropathy	Annual screening for parathethesias
Dyslipidemia screen	Annually
Hypertension	At least annually
Optic atrophy	Eye exam (visual acuity, color vision testing, slit lamp exam for cataracts, fundoscopy, visual fields) Need for low-vision aids	Annually
Sensorineural hearing impairment	Audiogram incl assessment of speech discrimination	Every 1-2 yrs
Neurologic	Neurologic exam incl assessment of cerebellar ataxia as well as memory, personality changes
Activities of daily living & mobility	Physical medicine, OT/PT assessment of mobility, self-help skills	Per treating clinicians
Dysphagia	For those w/o this concern previously: obtain history of swallowing/choking episodes & refer to speech-language therapist as needed.	Annually
For those known to have this concern	Per treating speech-language therapist
Dysarthria	For those w/o this concern previously: obtain history of speech difficulties & refer to speech-language therapist as needed.	Annually
For those known to have this concern	Per treating speech-language therapist
Development in young children	Monitor educational needs.	Annually in childhood
Cognitive decline / Intellectual disability	Per treating clinician	As clinically indicated
Psychiatric/Behavioral	Assess for symptoms of depression, suicidal behavior, & changes in personal appearance & social behavior	Per treating clinician
Neurogenic bladder	Urodynamic exam & assessment of bladder emptying Routine urine cultures when there is bladder dysfunction &/or other urinary tract abnormality	Annually
Other endocrine findings	Diabetes insipidus	Assess concentrating ability of urine.	Per treating clinician
Hypogonadism	Monitor for signs of onset of puberty.
Hypothyroidism	Monitor linear growth in children using standard growth charts.
Growth restriction
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies. Assess need for follow-up genetic counseling if new questions arise (e.g., family planning).

System/Concern

Evaluation

Frequency

Diabetes mellitus

Glycemic control

Every 3 mos

Complications of diabetes mellitus

Nephropathy

Annual screening starting at age 12 yrs

Retinopathy

In those w/duration of diabetes ≥5 yrs: annual screening

Neuropathy

Annual screening for parathethesias

Dyslipidemia screen

Annually

Hypertension

At least annually

Optic atrophy

Eye exam (visual acuity, color vision testing, slit lamp exam for cataracts, fundoscopy, visual fields)
Need for low-vision aids

Annually

Sensorineural hearing impairment

Audiogram incl assessment of speech discrimination

Every 1-2 yrs

Neurologic

Neurologic exam incl assessment of cerebellar ataxia as well as memory, personality changes

Activities of daily living & mobility

Physical medicine, OT/PT assessment of mobility, self-help skills

Per treating clinicians

Dysphagia

For those w/o this concern previously: obtain history of swallowing/choking episodes & refer to speech-language therapist as needed.

Annually

For those known to have this concern

Per treating speech-language therapist

Dysarthria

For those w/o this concern previously: obtain history of speech difficulties & refer to speech-language therapist as needed.

Annually

For those known to have this concern

Per treating speech-language therapist

Development in young children

Monitor educational needs.

Annually in childhood

Cognitive decline /
Intellectual disability

Per treating clinician

As clinically indicated

Psychiatric/Behavioral

Assess for symptoms of depression, suicidal behavior, & changes in personal appearance & social behavior

Per treating clinician

Neurogenic bladder

Urodynamic exam & assessment of bladder emptying
Routine urine cultures when there is bladder dysfunction &/or other urinary tract abnormality

Annually

Other
endocrine
findings

Diabetes insipidus

Assess concentrating ability of urine.

Per treating clinician

Hypogonadism

Monitor for signs of onset of puberty.

Hypothyroidism

Monitor linear growth in children using standard growth charts.

Growth restriction

Family/Community

Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Assess need for follow-up genetic counseling if new questions arise (e.g., family planning).

From: WFS1 Spectrum Disorder

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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