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

System/Concern	Evaluation	Comment
Gastrointestinal/ Feeding	Gastroenterologist / GI surgeon / nutrition / feeding team eval	To incl eval of intestinal atresia & feeding difficulties
Neurologic	Neurologic eval	Consider brain MRI to delineate structural brain anomalies if there is evidence of neurologic abnormalities or DD.
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Ophthalmologic	Ophthalmologic exam	To assess for structural eye anomalies & visual impairment
Genitourinary anomalies	Renal ultrasound eval for structural anomalies & parenchymal disease Physical exam for undescended testes in males Lab assessment of renal function incl CBC, BUN, creatinine, & electrolytes
Congenital heart disease	Echocardiogram	To assess valvular & anatomic defects
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of Strømme syndrome 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

Gastrointestinal/
Feeding

Gastroenterologist / GI surgeon / nutrition / feeding team eval

To incl eval of intestinal atresia & feeding difficulties

Neurologic

Neurologic eval

Consider brain MRI to delineate structural brain anomalies if there is evidence of neurologic abnormalities or DD.

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Ophthalmologic

Ophthalmologic exam

To assess for structural eye anomalies & visual impairment

Genitourinary
anomalies

Renal ultrasound eval for structural anomalies & parenchymal disease
Physical exam for undescended testes in males
Lab assessment of renal function incl CBC, BUN, creatinine, & electrolytes

Congenital
heart disease

Echocardiogram

To assess valvular & anatomic defects

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of Strømme syndrome 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: Strømme Syndrome

GeneReviews^® [Internet].

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

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