Table 4. [CDKL5 Deficiency Disorder: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Measurement of OFC, length, & weight	Smaller OFC is assoc w/↑ severity of disorder. ¹ Poor weight gain can reflect nutritional status.
Neurologic	Eval of epilepsy by neurologist or epileptologist	EEG to assess EEG background, epileptiform activity, & seizure type & correlate w/clinical semiology Prolonged video EEGs may be required to characterize spells of unclear etiology or rule out subclinical status epilepticus.
Eval of movement disorders	To characterize movement disorder, if present, & ascertain effect on gross & fine motor skills
Ophthalmologic/ Vision	Ophthalmologist	Assess for visual acuity, abnormal ocular movement, refractive errors, & strabismus
Neurologist	Assess for cerebral visual impairment
Development	Primary care / developmental assessment	Incl assessments for: Motor, adaptive, cognitive, & speech-language delays Early intervention program / IEP or 504 plan
Sleep disorder	By PCP, sleep specialist, or neurologist	Characterize: Issues assoc w/sleep initiation &/or maintenance; Presence of snoring, apnea, &/or excessive limb movements. Consider sleep study.
Neurobehavioral/ Psychiatric	By PCP / developmental pediatrician	Persons age >12 mos: screening for concerns incl sleep disturbances
Gastrointestinal/ Feeding/Nutrition	Primary care / gastroenterology / nutrition / feeding team assessments	Incl eval of aspiration risk & nutritional status Consider eval for gastric tube placement in persons w/dysphagia, poor weight gain, excessive feeding times (greater than 30 minutes per meal), &/or ↑ aspiration risk.
Respiratory	By pulmonologist	Assess for any of the following: Aspiration pneumonia Excessive or chronic cough Need for mgmt of oral secretions
Musculoskeletal	By PCP, orthopedist, neurologist, rehab medicine specialist, &/or PT	Annual assessments of nutritional status & bone health, incl 25-hydroxyvitamin D intake Clinical eval of spine; spine radiograph for baseline or to compare w/previous studies for presence of progressive scoliosis; referral to orthopedist if Cobb angle >45 degrees for consideration of surgical correction Annual assessments of large joint hypo- & hypermobility that may affect function; referral for radiographs & further interventions if indicated
Activities of daily living	Rehab, PT/OT evals	To incl assessment of: Gross motor & fine motor skills Contractures, clubfoot, & kypho-scoliosis Mobility, ADL, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Communication	Speech-language therapist	Assessment for augmentative communication devices & strategies
Genetic counseling	By genetics professionals ²	To inform affected persons & their families re nature, MOI, & implications of CDD to facilitate medical & personal decision making
Family support & resources	By PCP	Assess need for: Community or online resources such as Parent to Parent Social work involvement to connect families w/parental support, respite, & assistance w/establishing guardianship (see Transition to Adulthood: Caring for Your Child at Age 18 and Beyond). Palliative care involvement &/or home nursing referral

System/Concern

Evaluation

Comment

Constitutional

Measurement of OFC, length, & weight

Smaller OFC is assoc w/↑ severity of disorder. ¹
Poor weight gain can reflect nutritional status.

Neurologic

Eval of epilepsy by neurologist or epileptologist

EEG to assess EEG background, epileptiform activity, & seizure type & correlate w/clinical semiology
Prolonged video EEGs may be required to characterize spells of unclear etiology or rule out subclinical status epilepticus.

Eval of movement disorders

To characterize movement disorder, if present, & ascertain effect on gross & fine motor skills

Ophthalmologic/
Vision

Ophthalmologist

Assess for visual acuity, abnormal ocular movement, refractive errors, & strabismus

Neurologist

Assess for cerebral visual impairment

Development

Primary care / developmental assessment

Incl assessments for:

Motor, adaptive, cognitive, & speech-language delays
Early intervention program / IEP or 504 plan

Sleep disorder

By PCP, sleep specialist, or neurologist

Characterize:

Issues assoc w/sleep initiation &/or maintenance;
Presence of snoring, apnea, &/or excessive limb movements.

Consider sleep study.

Neurobehavioral/
Psychiatric

By PCP / developmental pediatrician

Persons age >12 mos: screening for concerns incl sleep disturbances

Gastrointestinal/
Feeding/Nutrition

Primary care / gastroenterology / nutrition / feeding team assessments

Incl eval of aspiration risk & nutritional status
Consider eval for gastric tube placement in persons w/dysphagia, poor weight gain, excessive feeding times (greater than 30 minutes per meal), &/or ↑ aspiration risk.

Respiratory

By pulmonologist

Assess for any of the following:

Aspiration pneumonia
Excessive or chronic cough
Need for mgmt of oral secretions

Musculoskeletal

By PCP, orthopedist, neurologist, rehab medicine specialist, &/or PT

Annual assessments of nutritional status & bone health, incl 25-hydroxyvitamin D intake
Clinical eval of spine; spine radiograph for baseline or to compare w/previous studies for presence of progressive scoliosis; referral to orthopedist if Cobb angle >45 degrees for consideration of surgical correction
Annual assessments of large joint hypo- & hypermobility that may affect function; referral for radiographs & further interventions if indicated

Activities of daily living

Rehab, PT/OT evals

To incl assessment of:

Gross motor & fine motor skills
Contractures, clubfoot, & kypho-scoliosis
Mobility, ADL, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Communication

Speech-language therapist

Assessment for augmentative communication devices & strategies

Genetic counseling

By genetics professionals ²

To inform affected persons & their families re nature, MOI, & implications of CDD to facilitate medical & personal decision making

Family support
& resources

By PCP

Assess need for:

Community or online resources such as Parent to Parent
Social work involvement to connect families w/parental support, respite, & assistance w/establishing guardianship (see Transition to Adulthood: Caring for Your Child at Age 18 and Beyond).
Palliative care involvement &/or home nursing referral

From: CDKL5 Deficiency Disorder

GeneReviews^® [Internet].

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

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