Table 7. [CDKL5 Deficiency Disorder: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Constitutional	Measurement of OFC, length, & weight	Annually, or more frequently as required for mgmt
Neurologic	Monitor those w/seizures as clinically indicated.	At each annual visit
Assess for new manifestations such as seizures, changes in tone, & movement disorders.	At each visit
Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake Eval of feeding time
Development	Monitor developmental progress & educational needs.
Neurobehavioral/ Psychiatric	Assessment for sleep, anxiety, ADHD, ASD, aggression, & self-injury
Gastrointestinal	Monitor for feeding, nutrition, constipation, & GERD.
Respiratory	Monitor for evidence of aspiration & respiratory insufficiency.
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills Assessment of large joint mobility (e.g., hip surveillance)
Clinical eval of spine Spine radiograph as needed to identify progressive scoliosis Referral to orthopedist if Cobb angle >45 degrees for consideration of surgical correction	At each annual visit
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, assistance w/establishing guardianship [see Transition to Adulthood: Caring for Your Child at Age 18 and Beyond], referral to a CDKL5 Center of Excellence, or other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit
Transition to Adult Care	Develop realistic plans for adult life (see Transitions from Pediatric Epilepsy to Adult Epilepsy Care).	Starting by ~age 10 yrs

System/Concern

Evaluation

Frequency

Constitutional

Measurement of OFC, length, & weight

Annually, or more frequently as required for mgmt

Neurologic

Monitor those w/seizures as clinically indicated.

At each annual visit

Assess for new manifestations such as seizures, changes in tone, & movement disorders.

At each visit

Feeding

Measurement of growth parameters
Eval of nutritional status & safety of oral intake
Eval of feeding time

Development

Monitor developmental progress & educational needs.

Neurobehavioral/
Psychiatric

Assessment for sleep, anxiety, ADHD, ASD, aggression, & self-injury

Gastrointestinal

Monitor for feeding, nutrition, constipation, & GERD.

Respiratory

Monitor for evidence of aspiration & respiratory insufficiency.

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, self-help skills
Assessment of large joint mobility (e.g., hip surveillance)

Clinical eval of spine
Spine radiograph as needed to identify progressive scoliosis
Referral to orthopedist if Cobb angle >45 degrees for consideration of surgical correction

At each annual visit

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, assistance w/establishing guardianship [see Transition to Adulthood: Caring for Your Child at Age 18 and Beyond], referral to a CDKL5 Center of Excellence, or other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

At each visit

Transition to Adult Care

Develop realistic plans for adult life (see Transitions from Pediatric Epilepsy to Adult Epilepsy Care).

Starting by ~age 10 yrs

From: CDKL5 Deficiency Disorder

GeneReviews^® [Internet].

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

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