Table 6.

Recommended Surveillance for Individuals with CLPB Deficiency

System/ConcernEvaluationFrequency
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & mvmt disorders.
At each visit
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
Development Monitor developmental progress & educational needs.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Neutropenia White blood cell count w/differential
Eyes Ophthalmologic examPer ophthalmologist in those w/cataracts
Endocrine TSH to assess thyroid functionAnnually
Follow-up labs/assessment of gonadal function per endocrinologist &/or gynecologistIn females annually beginning at age 10 yrs
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

OT = occupational therapy; PT = physical therapy; TSH = thyroid-stimulating hormone

From: CLPB Deficiency

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