Prof. Dr. Burak TatlıÇocuk Nörolojisi ve Gelişim
Appendix C

First Assessment Checklist

Prof. Dr. Burak Tatlı
Written and medically reviewed by
Prof. Dr. Burak Tatlı

Specialist in Pediatric Neurology & Developmental Pediatrics

İstanbul University-Cerrahpaşa Faculty of Medicine · Nörogender Association

Last reviewed:

Intended for healthcare professionals

History

  • Prenatal: reduced fetal movement, polyhydramnios, congenital contractures.
  • Perinatal: hypotonia, weak cry, feeding difficulty, respiratory support.
  • Motor milestones with dates; delay, plateau or loss.
  • Fatigability and diurnal variation.
  • Family history, consanguinity, signs of myotonia in the mother, early cardiac death in the family.

Examination

  • Observation: gait, rising from the floor (Gowers) — video where possible.
  • Strength (MRC), distribution, facial involvement; deep tendon reflexes.
  • Muscle bulk: atrophy or pseudohypertrophy; tongue fasciculations.
  • Sensory examination.
  • Spine, hips, contractures, foot deformity.
  • Breathing pattern, chest wall shape, cough strength; growth measurements.

First-line investigations

  • Creatine kinase (at rest); AST, ALT, GGT.
  • Full blood count, electrolytes, calcium-phosphate-ALP.
  • Thyroid function, 25-OH vitamin D.
  • In selected cases, lactate and dried blood spot acid alpha-glucosidase.

Plan

  • Has genetic testing been directed by localization?
  • Has the baseline functional measure been recorded?
  • Have respiratory and cardiac assessments been arranged?
  • Has referral for genetic counselling been made?
  • Has the anaesthetic risk card been issued and a written summary given to the family?
  • Has the date of the next appointment been set?

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