Table 6. [Treatment of Manifestations in Individuals with Classic or Nonclassic WFS1 Spectrum Disorder]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Diabetes mellitus	Routine practice for insulin-dependent DM	Diabetic ketoacidosis is rare. Because episodes of severe hypoglycemia are common, ¹ insulin is given as multiple daily injections or continuous infusion by insulin pump. Continuous glucose monitoring w/hypoglycemia alarm is recommended due to risk for hypoglycemic episodes. Other hypoglycemic agents are not licensed for use in WFS1-SD (due to insufficient evidence for efficacy or safety).
Optic atrophy	Correction of refractive error
Low-vision services	Evaluate for visual aids. Community vision services through early intervention or school district
Sensorineural hearing impairment	Treatment of SNHL depends on degree of hearing impairment. ²
Activities of daily living	Vision impairment support	Communication training (e.g., Braille), walking aids
Occupational therapist	To support tasks incl mobility & ADL To assist w/household modifications if needed
Dysphagia	Speech-language therapist	Determine exact cause of swallowing malfunction. Modify food types & consistency, head positioning during swallowing, & exercises to ensure safe swallow.
Dentist/dental hygienist	Attention to oral hygiene & dental care
Dysarthria	Speech-language pathologist	Help maintain vocal control, improve speech, teach breathing techniques, & assist communication in general.
Central apnea	Respiratory team	Options incl overnight noninvasive ventilatory support.
Psychiatric	Per standard treatment by psychiatric professional (psychiatrist, psychologist, neuropsychologist) as needed	Pharmacologic & non-pharmacologic therapies available.
Neurogenic bladder	Anticholinergic drugs Clean intermittent self-catheterization or indwelling catheter Treatment of recurrent urinary tract infections	Detrusor muscle dyssynergia may require pharmacologic relaxants or stimulants at different stages. Ensure central diabetes insipidus is screened for & treated.
Bowel dysfunction	Dietary mgmt	In conjunction w/bladder dysfunction
Other endocrine findings	Diabetes insipidus	Per standard treatment	Care w/arginine vasopressin replacement to avoid hyper-/hyponatremia
Hypogonadism	Hormone replacement therapy
Hypothyroidism	Thyroid hormone replacement
Growth restriction	Evaluate for growth hormone supplementation according to national guidelines for growth hormone therapy.
Transition of care to adult service providers	Assess understanding of illness, capacity for independent life skills	Start from early in 2nd decade. Involve young person as well as care providers in planned transfer to adult services.
Family/Community	Ensure appropriate social services involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Consider support w/adaptive sports, higher education, & employment opportunities.

Manifestation/Concern

Treatment

Considerations/Other

Diabetes mellitus

Routine practice for insulin-dependent DM

Diabetic ketoacidosis is rare.
Because episodes of severe hypoglycemia are common, ¹ insulin is given as multiple daily injections or continuous infusion by insulin pump.
Continuous glucose monitoring w/hypoglycemia alarm is recommended due to risk for hypoglycemic episodes.
Other hypoglycemic agents are not licensed for use in WFS1-SD (due to insufficient evidence for efficacy or safety).

Optic atrophy

Correction of refractive error

Low-vision services

Evaluate for visual aids.
Community vision services through early intervention or school district

Sensorineural hearing
impairment

Treatment of SNHL depends on degree of hearing impairment. ²

Activities of daily living

Vision impairment support

Communication training (e.g., Braille), walking aids

Occupational therapist

To support tasks incl mobility & ADL
To assist w/household modifications if needed

Dysphagia

Speech-language therapist

Determine exact cause of swallowing malfunction.
Modify food types & consistency, head positioning during swallowing, & exercises to ensure safe swallow.

Dentist/dental hygienist

Attention to oral hygiene & dental care

Dysarthria

Speech-language pathologist

Help maintain vocal control, improve speech, teach breathing techniques, & assist communication in general.

Central apnea

Respiratory team

Options incl overnight noninvasive ventilatory support.

Psychiatric

Per standard treatment by psychiatric professional (psychiatrist, psychologist, neuropsychologist) as needed

Pharmacologic & non-pharmacologic therapies available.

Neurogenic bladder

Anticholinergic drugs
Clean intermittent self-catheterization or indwelling catheter
Treatment of recurrent urinary tract infections

Detrusor muscle dyssynergia may require pharmacologic relaxants or stimulants at different stages.
Ensure central diabetes insipidus is screened for & treated.

Bowel dysfunction

Dietary mgmt

In conjunction w/bladder dysfunction

Other
endocrine
findings

Diabetes
insipidus

Per standard treatment

Care w/arginine vasopressin replacement to avoid hyper-/hyponatremia

Hypogonadism

Hormone replacement therapy

Hypothyroidism

Thyroid hormone replacement

Growth
restriction

Evaluate for growth hormone supplementation according to national guidelines for growth hormone therapy.

Transition of care to adult
service providers

Assess understanding of illness, capacity for independent life skills

Start from early in 2nd decade.
Involve young person as well as care providers in planned transfer to adult services.

Family/Community

Ensure appropriate social services involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Consider support w/adaptive sports, higher education, & employment opportunities.

From: WFS1 Spectrum Disorder

GeneReviews^® [Internet].

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

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