Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Angelman Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	To incl brain MR, EEG
Development & behavior	Developmental & behavioral assessment	To incl: Motor, adaptive, cognitive, & nonverbal language ability Language ability & need for special communication devices Eval for early intervention / special education Screening for behavior concerns incl sleep disturbances
Gastrointestinal/ Feeding	Gastroenterology / nutrition / feeding team eval	To incl eval for gastroesophageal reflux & nutritional status
Ophthalmology	Ophthalmology exam	To assess for strabismus, evidence of ocular albinism, visual acuity
Musculoskeletal	Orthopedics / physical medicine & rehabilitation / PT/OT eval	To incl assessment of: Gross motor & fine motor skills Scoliosis & gait impairment (e.g., extent of foot pronation or ankle subluxation; tight Achilles tendons) & extent of hypotonia Mobility, activities of daily living, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills) Need for orthopedic referral
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of AS in order to facilitate medical & personal decision making
Family support/ resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Neurologic

Neurologic eval

To incl brain MR, EEG

Development
& behavior

Developmental & behavioral assessment

To incl:

Motor, adaptive, cognitive, & nonverbal language ability
Language ability & need for special communication devices
Eval for early intervention / special education
Screening for behavior concerns incl sleep disturbances

Gastrointestinal/
Feeding

Gastroenterology / nutrition / feeding team eval

To incl eval for gastroesophageal reflux & nutritional status

Ophthalmology

Ophthalmology exam

To assess for strabismus, evidence of ocular albinism, visual acuity

Musculoskeletal

Orthopedics / physical medicine & rehabilitation / PT/OT eval

To incl assessment of:

Gross motor & fine motor skills
Scoliosis & gait impairment (e.g., extent of foot pronation or ankle subluxation; tight Achilles tendons) & extent of hypotonia
Mobility, activities of daily living, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Need for orthopedic referral

Genetic counseling

By genetics professionals ¹

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

Family support/
resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Angelman Syndrome

GeneReviews^® [Internet].

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

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