Table 5. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Lateral spinal meningoceles	Spine MRI to assess for meningoceles Neurosurgical assessment to evaluate effect of lateral spinal meningocele size & location on neurologic function
Associated neurologic issues	Neurologic eval	Assess for neuropathy, pain, neurogenic bladder &/or paraparesis.
Brain MRI	Assess for Chiari I malformation or hydrocephalus.
Developmental delay	Developmental assessment	To incl motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
Musculoskeletal	Assessment for abdominal hernia, ligamentous laxity / joint concerns, scoliosis
Cardiovascular	Eval w/cardiologist to incl echocardiogram
Genitourinary	Assessment for cryptorchidism
Gastrointestinal	Infant feeding eval	Assess for GERD & any palate abnormalities.
Eyes	Ophthalmologic eval	Assess for ↓ vision, abnormal ocular mvmt, & structural eye abnormality.
Hearing	Audiologic eval	Assess for hearing loss.
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of NOTCH3-related LMS 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

Lateral spinal
meningoceles

Spine MRI to assess for meningoceles
Neurosurgical assessment to evaluate effect of lateral spinal meningocele size & location on neurologic function

Associated
neurologic issues

Neurologic eval

Assess for neuropathy, pain, neurogenic bladder &/or paraparesis.

Brain MRI

Assess for Chiari I malformation or hydrocephalus.

Developmental
delay

Developmental assessment

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

Musculoskeletal

Assessment for abdominal hernia, ligamentous laxity / joint concerns, scoliosis

Cardiovascular

Eval w/cardiologist to incl echocardiogram

Genitourinary

Assessment for cryptorchidism

Gastrointestinal

Infant feeding eval

Assess for GERD & any palate abnormalities.

Eyes

Ophthalmologic eval

Assess for ↓ vision, abnormal ocular mvmt, & structural eye abnormality.

Hearing

Audiologic eval

Assess for hearing loss.

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of NOTCH3-related LMS 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: NOTCH3-Related Lateral Meningocele Syndrome

GeneReviews^® [Internet].

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

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