Table 4. [Recommended Evaluations Following Initial Diagnosis of TSEN54 Pontocerebellar Hypoplasia Type 2]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Measure length, weight.	See Gastrointestinal/Feeding recommendations if there is 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; impaired central vision.
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 individuals & their families re nature, MOI, & implications of TSEN54-PCH2 to facilitate medical & personal decision making
Family support/ resources	Assess: Use of community or online resources such as 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 recommendations if there is 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; impaired central vision.

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 individuals & their families re nature, MOI, & implications of TSEN54-PCH2 to facilitate medical & personal decision making

Family support/
resources

Assess:

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

From: TSEN54 Pontocerebellar Hypoplasia

GeneReviews^® [Internet].

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

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