Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with CLPB Deficiency

System/ConcernEvaluationComment
Neurologic
  • Complete physical & neurologic exam
  • Brain MRI
  • Complete eval of feeding & diet to determine need for tube feeding or gastrostomy
  • Eval of excessive drooling to determine if ↑ risk of aspiration &/or dehydration
For those w/significant neurologic problems
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
  • Consider IQ testing in persons diagnosed at an older age.
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & kyphoscoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Immune function ANC to determine need for G-CSF treatment.
Eyes Complete ophthalmologic exam to evaluate for cataracts
Endocrine
function 		TSH to assess thyroid function
Eval of ovarian function per endocrinologist &/or gynecologistIn females beginning at age 10 yrs
Renal Renal ultrasound exam to assess for nephrocalcinosis &/or cystsIn all persons at diagnosis incl infants
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CLPB deficiency to facilitate medical & personal decision making
Family support
& resources 		Assess need for: For those diagnosed in infancy or childhood

ADL = activities of daily living; ANC = absolute neutrophil count; G-CSF = granulocyte-colony stimulating factor; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; TSH = thyroid-stimulating hormone

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: CLPB Deficiency

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