Table 4. [Recommended Surveillance for Individuals with CDK13-Related Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Eyes	Ophthalmologic eval	Annually during childhood to monitor for strabismus or refractive errors
ENT/Mouth	Routine dental/orthodontics	As indicated if dental anomalies are present
Cardiovascular	EKG to detect electrical disturbances Echocardiogram to evaluate structural defects	As indicated if structural cardiac disease is present
Gastrointestinal/ Feeding	For those w/feeding difficulties: assessment of swallowing, feeding, nutritional status, weight gain	Monthly in 1st few mos of life, then at least yearly during childhood
Constipation	As indicated if chronic constipation is present
Renal	For those w/renal structural abnormalities	Annual laboratory eval for renal function as indicated
Musculoskeletal	For those w/spinal abnormalities	Annual monitoring for scoliosis progression
For those w/joint contractures	Annual monitoring of joints for restriction in range of motion
Neurologic	Monitor treatment effectiveness in those w/seizures.	As indicated if clinical seizure activity is suspected
Psychiatric/ Behavioral	Behavioral assessment	Annual assessment
Miscellaneous/ Other	Monitor developmental progress & educational needs.	Annual assessment
Clinical genetics eval	Annually to update family of any new medical recommendations or changes to recommended mgmt

System/Concern

Evaluation

Frequency

Eyes

Ophthalmologic eval

Annually during childhood to monitor for strabismus or refractive errors

ENT/Mouth

Routine dental/orthodontics

As indicated if dental anomalies are present

Cardiovascular

EKG to detect electrical disturbances
Echocardiogram to evaluate structural defects

As indicated if structural cardiac disease is present

Gastrointestinal/
Feeding

For those w/feeding difficulties: assessment of swallowing, feeding, nutritional status, weight gain

Monthly in 1st few mos of life, then at least yearly during childhood

Constipation

As indicated if chronic constipation is present

Renal

For those w/renal structural abnormalities

Annual laboratory eval for renal function as indicated

Musculoskeletal

For those w/spinal abnormalities

Annual monitoring for scoliosis progression

For those w/joint contractures

Annual monitoring of joints for restriction in range of motion

Neurologic

Monitor treatment effectiveness in those w/seizures.

As indicated if clinical seizure activity is suspected

Psychiatric/
Behavioral

Behavioral assessment

Annual assessment

Miscellaneous/
Other

Monitor developmental progress & educational needs.

Annual assessment

Clinical genetics eval

Annually to update family of any new medical recommendations or changes to recommended mgmt

From: CDK13-Related Disorder

GeneReviews^® [Internet].

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

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