Table 3. [Recommended Evaluations Following Initial Diagnosis in Males with DDON Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Hearing impairment	Formal audiologic assessment w/focus on possibility of auditory neuropathy	To determine extent of hearing impairment
Speech-language assessment	To determine speech therapy needs
Dystonia/ Ataxia	Neurologic assessment	To provide baseline information
Orthopedics / physical medicine & rehab / PT & OT eval	Incl assessment of: Gross motor & fine motor skills Mobility, activities of daily living, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Vision impairment	Ophthalmologic eval incl VEP	Incl visual acuity, color vision testing, visual field testing for evidence of central scotomas
Development	Developmental assessment; consider specialized testing for deaf &/or visually impaired persons.	Incl motor, adaptive, cognitive evaluation for early intervention / special education
Psychiatric/ Behavioral	Neuropsychiatric eval	For persons w/dementia &/or psychiatric disturbance
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor	Incl genetic counseling
Family support & resources	Assess need for: Community or online resources (e.g., Parent to Parent); Social work involvement for parental support.

System/Concern

Evaluation

Comment

Hearing
impairment

Formal audiologic assessment w/focus on possibility of auditory neuropathy

To determine extent of hearing impairment

Speech-language assessment

To determine speech therapy needs

Dystonia/
Ataxia

Neurologic assessment

To provide baseline information

Orthopedics / physical medicine & rehab / PT & OT eval

Incl assessment of:

Gross motor & fine motor skills
Mobility, activities of daily living, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Vision
impairment

Ophthalmologic eval incl VEP

Incl visual acuity, color vision testing, visual field testing for evidence of central scotomas

Development

Developmental assessment; consider specialized testing for deaf &/or visually impaired persons.

Incl motor, adaptive, cognitive evaluation for early intervention / special education

Psychiatric/
Behavioral

Neuropsychiatric eval

For persons w/dementia &/or psychiatric disturbance

Miscellaneous/
Other

Consultation w/clinical geneticist &/or genetic counselor

Incl genetic counseling

Family support & resources

Assess need for:

Community or online resources (e.g., Parent to Parent);
Social work involvement for parental support.

From: Deafness-Dystonia-Optic Neuronopathy Syndrome

GeneReviews^® [Internet].

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

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