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

System/Concern	Evaluation	Comment
Constitutional	Weight, height, & body mass index (in those age >2 yrs)	Consider referral to nutritionist in those w/obesity.
Dental	Dental eval	To assess for dental issues, incl retention of primary dentition
Eyes	Ophthalmologic eval	To assess for refractive errors
Ears	Audiologic eval	To assess for hearing loss
Cardiovascular	Echocardiogram & EKG	To evaluate for structural heart defects & rhythm disturbance; consider referral to cardiologist.
Respiratory	Assess for history of sleep disturbance.	Consider referral to sleep disorders clinic.
Gastrointestinal/ Feeding	Assess for signs & symptoms of gastroesophageal reflux disease.
Genitourinary	Renal ultrasound	To evaluate for structural renal anomalies & hydronephrosis
Neurologic	Neurologic eval	Consider referral to neurologist.
EEG	If seizures are suspected
Head MRI	If seizures &/or mvmt disorder, extreme apathy / catatonia, &/or regression in psychomotor development is present
Psychiatric/ Behavioral	Neuropsychiatric eval	Persons age >12 mos: screen for behavior concerns incl sleep disturbances, mood issues, psychotic disorders, anxiety, &/or findings suggestive of ASD.
Miscellaneous/ Other	Developmental assessment	Evaluate motor, speech-language, general cognitive, & vocational skills.
Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Constitutional

Weight, height, & body mass index (in those age >2 yrs)

Consider referral to nutritionist in those w/obesity.

Dental

Dental eval

To assess for dental issues, incl retention of primary dentition

Eyes

Ophthalmologic eval

To assess for refractive errors

Ears

Audiologic eval

To assess for hearing loss

Cardiovascular

Echocardiogram & EKG

To evaluate for structural heart defects & rhythm disturbance; consider referral to cardiologist.

Respiratory

Assess for history of sleep disturbance.

Consider referral to sleep disorders clinic.

Gastrointestinal/
Feeding

Assess for signs & symptoms of gastroesophageal reflux disease.

Genitourinary

Renal ultrasound

To evaluate for structural renal anomalies & hydronephrosis

Neurologic

Neurologic eval

Consider referral to neurologist.

EEG

If seizures are suspected

Head MRI

If seizures &/or mvmt disorder, extreme apathy / catatonia, &/or regression in psychomotor development is present

Psychiatric/
Behavioral

Neuropsychiatric eval

Persons age >12 mos: screen for behavior concerns incl sleep disturbances, mood issues, psychotic disorders, anxiety, &/or findings suggestive of ASD.

Miscellaneous/
Other

Developmental assessment

Evaluate motor, speech-language, general cognitive, & vocational skills.

Consultation w/clinical geneticist &/or genetic counselor

From: Kleefstra Syndrome

GeneReviews^® [Internet].

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

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