Table 5. [Recommended Surveillance for Individuals with CHD4 Neurodevelopmental Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Neurologic	For infants & young children: monitor head circumference because of ↑ risk of hydrocephalus.	At each visit
Consider brain MRI/MRA.	If new neurologic manifestations such as seizures & stroke
Assess for new manifestations (e.g., changes in muscle tone, hemiparesis, pyramidal signs, seizures).	At each visit
Spine	Flexion-extension radiograph; flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs	Per orthopedist based on clinical findings or planned surgery
Development	Monitor developmental progress & educational needs.	At each visit
Psychiatric/ Behavioral	Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior	Every 1-3 yrs
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills	At each visit
Orthopedist	As needed
Eyes	Ophthalmologic assessment	Every 1-3 yrs
Cardiovascular	Echocardiogram	Follow up as needed
Endocrine	Assessment for hypogonadism when indicated (See Table 4.)	At time puberty is expected
Assessment for growth hormone deficiency when indicated (See Table 4.)	When indicated
Hearing	Hearing test	Every 1-3 yrs
Miscellaneous/ Other	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.	At each visit

System/Concern

Evaluation

Frequency

Neurologic

For infants & young children: monitor head circumference because of ↑ risk of hydrocephalus.

At each visit

Consider brain MRI/MRA.

If new neurologic manifestations such as seizures & stroke

Assess for new manifestations (e.g., changes in muscle tone, hemiparesis, pyramidal signs, seizures).

At each visit

Spine

Flexion-extension radiograph; flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs

Per orthopedist based on clinical findings or planned surgery

Development

Monitor developmental progress & educational needs.

At each visit

Psychiatric/
Behavioral

Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior

Every 1-3 yrs

Musculoskeletal

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

At each visit

Orthopedist

As needed

Eyes

Ophthalmologic assessment

Every 1-3 yrs

Cardiovascular

Echocardiogram

Follow up as needed

Endocrine

Assessment for hypogonadism when indicated (See Table 4.)

At time puberty is expected

Assessment for growth hormone deficiency when indicated (See Table 4.)

When indicated

Hearing

Hearing test

Every 1-3 yrs

Miscellaneous/
Other

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

At each visit

From: CHD4 Neurodevelopmental Disorder

GeneReviews^® [Internet].

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

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