Table 3. [Recommended Evaluations Following Initial Diagnosis of EXOSC3 Pontocerebellar Hypoplasia]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Measure length & weight.	See Gastrointestinal/Feeding if evidence of failure to thrive.
Gastrointestinal/ Feeding	Gastroenterology / nutrition / feeding team eval	Assess swallowing & feeding to determine safety of oral vs gastrostomy feeding.
Respiratory	Assess airway & pulmonary function & secretion management.	Consult pulmonologist.
Neurologic	Eval by pediatric neurologist	Assess for: Evidence of severe generalized clonus; Chorea, spasticity; Seizures (to incl EEG); Impaired central vision.
Hearing loss	Eval by audiologist
Vision	Eval by pediatric ophthalmologist	Assess visual acuity. Fundoscopy to assess optic nerve
Musculoskeletal	Multidisciplinary neuromuscular clinic assessment by orthopedist, physical medicine, OT/PT	To incl assessment of: Contractures, clubfoot, & kyphoscoliosis Need for positioning devices
Palliative care	Refer to palliative care specialist.	When deemed appropriate by family & care providers
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of EXOSC3-PCH to facilitate medical & personal decision making
Family support/ resources	Assess: Use of community or online resources incl Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.

System/Concern

Evaluation

Comment

Constitutional

Measure length & weight.

See Gastrointestinal/Feeding if evidence of failure to thrive.

Gastrointestinal/
Feeding

Gastroenterology / nutrition / feeding team eval

Assess swallowing & feeding to determine safety of oral vs gastrostomy feeding.

Respiratory

Assess airway & pulmonary function & secretion management.

Consult pulmonologist.

Neurologic

Eval by pediatric neurologist

Assess for:

Evidence of severe generalized clonus;
Chorea, spasticity;
Seizures (to incl EEG);
Impaired central vision.

Hearing loss

Eval by audiologist

Vision

Eval by pediatric ophthalmologist

Assess visual acuity.
Fundoscopy to assess optic nerve

Musculoskeletal

Multidisciplinary neuromuscular clinic assessment by orthopedist, physical medicine, OT/PT

To incl assessment of:

Contractures, clubfoot, & kyphoscoliosis
Need for positioning devices

Palliative care

Refer to palliative care specialist.

When deemed appropriate by family & care providers

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of EXOSC3-PCH to facilitate medical & personal decision making

Family support/
resources

Assess:

Use of community or online resources incl Parent to Parent;
Need for social work involvement for parental support;
Need for home nursing referral.

From: EXOSC3 Pontocerebellar Hypoplasia

GeneReviews^® [Internet].

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

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