Table 2.

Recommended Evaluations Following Initial Diagnosis in Individuals with Microcephaly-Capillary Malformation Syndrome

System/ConcernEvaluationComment
Constitutional
Neurologic Neurologic eval
  • To incl brain MRI
  • EEG if seizures are a concern
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
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)
Speech/Language To assess need for alternative means of communication
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in patients w/dysphagia &/or aspiration risk.
Eyes Ophthalmologic evalTo assess functional vision & for strabismus, refractive errors, & optic atrophy
Hearing Audiologic eval
  • To establish a baseline
  • To assess for hearing loss
Kidneys Abdominal ultrasound examAssess for duplicated collecting system, unilateral dysplastic kidney, & vesicoureteral reflux.
Cardiovascular EchocardiogramAssess for structural defects.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of MIC-CAP to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources such as Parent to Parent;
  • Social work involvement for parental support;
  • Home nursing referral;
  • Pediatric palliative care consultation.

ADL = activities of daily living; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Microcephaly-Capillary Malformation Syndrome

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