Table 6. [Recommended Surveillance for Individuals with an ESCO2 Spectrum Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth	Primary care provider: monitor growth incl weight, height, & head circumference, blood pressure, risk of infection.	At every visit
Development	Monitor developmental progress & educational needs, mobility & self-care needs. Assess for household barriers to mobility/self-help.	At every visit
Limb malformations	Physical medicine, OT/PT assessment of mobility, self-help skills, and need for architectural modifications at home	At every visit
Cleft lip/palate	Multidisciplinary craniofacial team: Assess equipment & techniques for feeding infants w/cleft palate. Determine surgical repair timing & type of procedure. Audiologic evaluation as needed	In infants: visit frequency determined by feeding & respiratory issues In children: varies depending on comorbidities; at least annually
Speech	Speech assessment by speech language pathologist familiar w/cleft palate & neuromuscular contributors to speech issues Consider speech therapy, surgical interventions, & augmentative communication devices.	At least annually
Renal anomalies	Renal function test, blood pressure measurement	Annually
Congenital heart defects	Per treating cardiologist / cardiac surgeon	Per treating cardiologist / cardiac surgeon
Eye abnormalities	Visual acuity	Per treating ophthalmologist
Malignancies	Skin, musculoskeletal, & intracranial	Annually
Stroke	Aneurysms, vascular malformation, & intracranial neoplasms	Starting in adolescence
Infection risk	Ig serum level	During infancy
Family/ Community	Architectural adaptations at home based on level of physical & intellectual disability	According to developmental & physical needs

System/Concern

Evaluation

Frequency

Growth

Primary care provider: monitor growth incl weight, height, & head circumference, blood pressure, risk of infection.

At every visit

Development

Monitor developmental progress & educational needs, mobility & self-care needs. Assess for household barriers to mobility/self-help.

At every visit

Limb
malformations

Physical medicine, OT/PT assessment of mobility, self-help skills, and need for architectural modifications at home

At every visit

Cleft lip/palate

Multidisciplinary craniofacial team:

Assess equipment & techniques for feeding infants w/cleft palate.
Determine surgical repair timing & type of procedure.
Audiologic evaluation as needed

In infants: visit frequency determined by feeding & respiratory issues
In children: varies depending on comorbidities; at least annually

Speech

Speech assessment by speech language pathologist familiar w/cleft palate & neuromuscular contributors to speech issues
Consider speech therapy, surgical interventions, & augmentative communication devices.

At least annually

Renal anomalies

Renal function test, blood pressure measurement

Annually

Congenital
heart defects

Per treating cardiologist / cardiac surgeon

Eye abnormalities

Visual acuity

Per treating ophthalmologist

Malignancies

Skin, musculoskeletal, & intracranial

Annually

Stroke

Aneurysms, vascular malformation, & intracranial neoplasms

Starting in adolescence

Infection risk

Ig serum level

During infancy

Family/
Community

Architectural adaptations at home based on level of physical & intellectual disability

According to developmental & physical needs

From: ESCO2 Spectrum Disorder

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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