Table 5. [Recommended Surveillance for Individuals with GNB5-Related Neurodevelopmental Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Constitutional	Assess linear growth & weight gain.	At each pediatric visit
Neurologic	Assess: Seizure type & frequency; ASM side effects.	As required based on seizure frequency & side effects of ASMs
DD/ID	Monitor developmental progress & educational needs.	At each pediatric visit
Speech/Language	Assess effectiveness of current interventions & need for AAC methods.	According to local resource availability
Musculoskeletal & ADL	Physical medicine, OT/PT assessment of mobility, self-help skills
Sinus node dysfunction	For those w/known arrhythmic syncope		Pacing clinic follow up if paced (usually every 6 mos)
For those w/o known arrhythmic syncope	Monitor for history suggestive of arrhythmic syncope. EKG & Holter recordings Use of event monitors incl implantable loop recorders may help establish whether or not pauses are assoc w/or causative of syncope or seizure activity.	3-6 mo follow up in infancy, ↓ to annual depending on severity of bradycardia
Eyes/Vision	Per treating ophthalmologist / vision specialist	Per treating ophthalmologist / vision specialist
Gastrointestinal/Feeding	Eval of nutritional status & safety of oral intake	At each pediatric visit
Family support & resources	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

System/Concern

Evaluation

Frequency

Constitutional

Assess linear growth & weight gain.

At each pediatric visit

Neurologic

Assess:

Seizure type & frequency;
ASM side effects.

As required based on seizure frequency & side effects of ASMs

DD/ID

Monitor developmental progress & educational needs.

At each pediatric visit

Speech/Language

Assess effectiveness of current interventions & need for AAC methods.

According to local resource availability

Musculoskeletal & ADL

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

Sinus node dysfunction

For those w/known arrhythmic syncope

Pacing clinic follow up if paced (usually every 6 mos)

For those w/o known arrhythmic syncope

Monitor for history suggestive of arrhythmic syncope.
EKG & Holter recordings
Use of event monitors incl implantable loop recorders may help establish whether or not pauses are assoc w/or causative of syncope or seizure activity.

3-6 mo follow up in infancy, ↓ to annual depending on severity of bradycardia

Eyes/Vision

Per treating ophthalmologist / vision specialist

Gastrointestinal/Feeding

Eval of nutritional status & safety of oral intake

At each pediatric visit

Family support &
resources

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

GeneReviews^® [Internet].

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

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