Table 8. [Recommended Evaluations Following Initial Diagnosis in Individuals with Alexander Disease]. - GeneReviews®

System/Specialist	Evaluation	Comment
Neurologic	Complete neurologic assessment incl history, physical exam, & eval of head circumference	Review clinical & MRI findings w/affected individual & caregivers. Perform formal, age-appropriate developmental assessment (in children). Discuss symptomatic therapy. Determine if EEG is needed.
Primary care physician	History & physical exam	To facilitate care coordination after receiving info about diagnosis & mgmt plan
Genetic counseling	Discussion led by genetics professionals ¹	To inform patients & their families re nature, MOI, & implications of Alexander disease to facilitate medical & personal decision making
Family support/ resources	Discussion w/patient, family, & caregivers	To assess family & social structure to determine availability of adequate support system, need for social work involvement & parental or caregiver support, need for home nursing referral, & use of community or online resources such as Parent to Parent
Speech/language pathologist or feeding specialist	Swallow eval	Some programs may offer a clinical eval while others may recommend a study, such as videofluoroscopic swallowing study (also called modified barium swallow) or fiberoptic endoscopic eval.
Speech/language pathologist	Speech/language eval	To identify impairments in receptive & expressive language & determine if speech/language therapy &/or AAC would help improve communication skills
Physical therapist	Physical eval	To evaluate range of motion, strength, coordination, & tone; & develop a plan for improving gross motor function (e.g., ambulation, mobility)
Occupational therapist	Physical eval	To evaluate fine motor activities (incl dexterity & handwriting) & develop plan to improve self-care skills (e.g., dressing, toileting, & grooming)
Physiatrist (rehab doctor)	History & physical exam	To evaluate function & guide team in maximizing abilities
Orthopedic specialist	History & physical exam	To evaluate scoliosis & hip dislocation (may be done in conjunction w/physiatry)
Gastroenterologist	History & physical exam	To assess feeding/eating, digestive problems (incl constipation & gastroesophageal reflux), & nutrition using history, growth measurements, & (if needed) gastrointestinal investigations
Nutritionist	Review caloric intake & expended energy	To determine nutritional & fluid needs to ensure adequate growth
Pulmonologist (or sleep medicine physician)	Lung & breathing eval	To determine whether respiratory compromise is present (from weakness, scoliosis, or aspiration) & assess for sleep apnea (often central in etiology)
Urologist	Review bladder function	To determine if upper or lower motor neuron involvement of bladder requires intervention
Psychologist	Discussion of medical diagnosis	Psychological assessment for older patients to determine awareness & understanding of disease & its consequences
Neuropsychologist	Formal eval (when age appropriate) to incl standardized metrics of cognition & other areas of brain development	To determine impact of disrupted cerebral pathways on learning & cognitive development, as well as develop plan to optimize learning strategies

System/Specialist

Evaluation

Comment

Neurologic

Complete neurologic assessment incl history, physical exam, & eval of head circumference

Review clinical & MRI findings w/affected individual & caregivers.
Perform formal, age-appropriate developmental assessment (in children).
Discuss symptomatic therapy.
Determine if EEG is needed.

Primary care
physician

History & physical exam

To facilitate care coordination after receiving info about diagnosis & mgmt plan

Genetic
counseling

Discussion led by genetics professionals ¹

To inform patients & their families re nature, MOI, & implications of Alexander disease to facilitate medical & personal decision making

Family support/
resources

Discussion w/patient, family, & caregivers

To assess family & social structure to determine availability of adequate support system, need for social work involvement & parental or caregiver support, need for home nursing referral, & use of community or online resources such as Parent to Parent

Speech/language
pathologist or
feeding specialist

Swallow eval

Some programs may offer a clinical eval while others may recommend a study, such as videofluoroscopic swallowing study (also called modified barium swallow) or fiberoptic endoscopic eval.

Speech/language
pathologist

Speech/language eval

To identify impairments in receptive & expressive language & determine if speech/language therapy &/or AAC would help improve communication skills

Physical therapist

Physical eval

To evaluate range of motion, strength, coordination, & tone; & develop a plan for improving gross motor function (e.g., ambulation, mobility)

Occupational
therapist

Physical eval

To evaluate fine motor activities (incl dexterity & handwriting) & develop plan to improve self-care skills (e.g., dressing, toileting, & grooming)

Physiatrist
(rehab doctor)

History & physical exam

To evaluate function & guide team in maximizing abilities

Orthopedic
specialist

History & physical exam

To evaluate scoliosis & hip dislocation (may be done in conjunction w/physiatry)

Gastroenterologist

History & physical exam

To assess feeding/eating, digestive problems (incl constipation & gastroesophageal reflux), & nutrition using history, growth measurements, & (if needed) gastrointestinal investigations

Nutritionist

Review caloric intake & expended energy

To determine nutritional & fluid needs to ensure adequate growth

Pulmonologist
(or sleep medicine
physician)

Lung & breathing eval

To determine whether respiratory compromise is present (from weakness, scoliosis, or aspiration) & assess for sleep apnea (often central in etiology)

Urologist

Review bladder function

To determine if upper or lower motor neuron involvement of bladder requires intervention

Psychologist

Discussion of medical diagnosis

Psychological assessment for older patients to determine awareness & understanding of disease & its consequences

Neuropsychologist

Formal eval (when age appropriate) to incl standardized metrics of cognition & other areas of brain development

To determine impact of disrupted cerebral pathways on learning & cognitive development, as well as develop plan to optimize learning strategies

From: Alexander Disease

GeneReviews^® [Internet].

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

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