Table 4 Sample cases

Case 1

• 2-year-old child

• Presents with losing motor milestones, not able to sit without support anymore, Never learned to walk independently

• Able to speak single words

• GMFC-MLD 4, no IQ score available, MLD-Loes 13

Case 2

• 9-year-old child

• Presents with decline in school performance during past 3 years and recently frequent falls

• Normal initial development, goes to regular school

• GMFC-MLD 1, TIQ 72, MLD-Loes 18

Case 3

• 17-year-old adolescent

• Presents with decline in school performance (started at regular pre-university school and currently special education) and behavioral disturbances, increasingly present during past 5 years

• No motor problems

• GMFC-MLD 0, TIQ 63, MLD-Loes 23

Case 4

• 22-year-old patient

• No symptoms

• Diagnosed through a family screening because of an affected sibling (28 y/o)

• GMFC-MLD 0, TIQ 106, MLD-Loes 16