Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with ALS2-related Disorder]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	By an experienced neurologist	For evidence of UMN, LMN, & cranial nerve involvement
Developmental assessment		To incl: Motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Scoliosis / Hip dislocation	By experienced orthopedist
Musculoskeletal/ ADL	Physical medicine & rehab / PT/OT eval	To incl assessment of: Gross motor & fine motor skills Mobility, ADL, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Dysarthria	By speech & language therapist	Consider need for alternative communication.
Dysphagia	Gastroenterology / nutrition / feeding team eval	To incl eval of aspiration risk & nutritional status Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
Oculomotor involvement	Ophthalmologic exam	Incl assessment of ocular movements
Bladder dysfunction	Urologist	Assess for bladder spasticity w/frequency & urgency of micturition.
Bowel dysfunction	Gastroenterologist	Assess for signs & symptoms related to immobility.
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of ALS2-related disorder to facilitate medical & personal decision making
Family support/ resources	Assess: Use of community resources, ALS/MND support organizations, &/or family support organizations such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.	Involvement of teams experienced in pediatric & neurologic neurodegenerative conditions

System/Concern

Evaluation

Comment

Neurologic

By an experienced neurologist

For evidence of UMN, LMN, & cranial nerve involvement

Developmental
assessment

To incl:

Motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Scoliosis / Hip
dislocation

By experienced orthopedist

Musculoskeletal/
ADL

Physical medicine & rehab / PT/OT eval

To incl assessment of:

Gross motor & fine motor skills
Mobility, ADL, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Dysarthria

By speech & language therapist

Consider need for alternative communication.

Dysphagia

Gastroenterology / nutrition / feeding team eval

To incl eval of aspiration risk & nutritional status
Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.

Oculomotor
involvement

Ophthalmologic exam

Incl assessment of ocular movements

Bladder
dysfunction

Urologist

Assess for bladder spasticity w/frequency & urgency of micturition.

Bowel
dysfunction

Gastroenterologist

Assess for signs & symptoms related to immobility.

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of ALS2-related disorder to facilitate medical & personal decision making

Family support/
resources

Assess:

Use of community resources, ALS/MND support organizations, &/or family support organizations such as Parent to Parent;
Need for social work involvement for parental support;
Need for home nursing referral.

Involvement of teams experienced in pediatric & neurologic neurodegenerative conditions

From: ALS2-Related Disorder

GeneReviews^® [Internet].

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

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