Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with MN1 C-Terminal Truncation Syndrome

System/ConcernEvaluationComment
Constitutional Measure height, weight, & head circumference.
Craniofacial
  • Dental eval
  • Oral-maxillofacial eval
Incl:
  • Dental anomalies (e.g., conical teeth, crowded teeth, malocclusion)
  • Palate for submucous cleft assoc w/bifid uvula
  • Cranial exam & skull radiographs for craniosynostosis
  • CT if indicated
There is ↑ risk for craniosynostosis & ↑ intracranial pressure.
Neurologic Neurologic eval
  • Brain MRI to identify polymicrogyria (possibly assoc w/seizure risk) & persistent trigeminal artery (possible risks for neurosurgical procedures involving skull base & pituitary)
  • EEG, if seizures present
Development Developmental assessment
  • Incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Speech & language Speech-language therapistAnticipate need for augmentative communication incl sign language.
Psychiatric/
Behavioral 		Assessment by primary care provider
  • No consistent behavior problems reporte
  • Some may experience frustration due to poor verbal communication.
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalIncl assessment of:
  • Spinal involvement (lordosis, scoliosis, kyphosis)
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team evalIncl eval of aspiration risk & nutritional status
Eyes Ophthalmology evalTo assess for ↓ vision, oculomotor defects, strabismus, or shallow orbits
Hearing Audiology eval
  • Assess for conductive &/or sensorineural hearing loss.
  • If present, refer to otolaryngologist.
Cardiovascular Cardiology evalFor congenital heart defects, most commonly ASD & VSD
Genetic counseling By genetics professionals 1To inform affected individuals & their families re nature, MOI, & implications of MCTT syndrome to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ASD = atrial septal defect; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; VSD = ventricular septal defects

1.

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

From: MN1 C-Terminal Truncation Syndrome

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