Table 5. [Recommended Surveillance and Follow Up...]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth	Measurement of growth/anthropometric parameters	At each visit
Neurodevelopmental milestones & cognitive abilities	Monitor progress along age-expected neurodevelopmental milestones.
Reassess special educational needs.	Annually in childhood & adolescence
Neurobehavioral & psychiatric evaluations	Conduct thorough assessment & screening for anxiety, irritability & aggression, self-injurious behaviors, attention deficits, hyperactivity, impulsivity, & sleep disturbances.	At each visit
Musculoskeletal	PT/OT assessment of gross & fine motor skills, mobility, & self-care skills
Orthopedics follow up	As needed for those w/contractures &/or kyphoscoliosis
Allergy/ Immunology	Repeat pulmonary function testing as needed in those w/moderate-to-severe asthma, & assess response to prescribed medications.	As clinically indicated or per pulmonologist
Hearing	Audiology eval	At least annually in infancy & childhood, or more frequently if otherwise clinically indicated
Vision	Ophthalmology eval	At least annually
Family & community support/resources	Assess family or caregiver need for social work support (e.g., palliative/respite care, home nursing, other local resources), equipment & assistive medical devices, &/or any other special disability benefits.	At each visit

System/Concern

Evaluation

Frequency

Growth

Measurement of growth/anthropometric parameters

At each visit

Neurodevelopmental
milestones &
cognitive abilities

Monitor progress along age-expected neurodevelopmental milestones.

Reassess special educational needs.

Annually in childhood & adolescence

Neurobehavioral &
psychiatric
evaluations

Conduct thorough assessment & screening for anxiety, irritability & aggression, self-injurious behaviors, attention deficits, hyperactivity, impulsivity, & sleep disturbances.

At each visit

Musculoskeletal

PT/OT assessment of gross & fine motor skills, mobility, & self-care skills

Orthopedics follow up

As needed for those w/contractures &/or kyphoscoliosis

Allergy/
Immunology

Repeat pulmonary function testing as needed in those w/moderate-to-severe asthma, & assess response to prescribed medications.

As clinically indicated or per pulmonologist

Hearing

Audiology eval

At least annually in infancy & childhood, or more frequently if otherwise clinically indicated

Vision

Ophthalmology eval

At least annually

Family & community
support/resources

Assess family or caregiver need for social work support (e.g., palliative/respite care, home nursing, other local resources), equipment & assistive medical devices, &/or any other special disability benefits.

At each visit

From: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

GeneReviews^® [Internet].

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

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