Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Table 2 Best developmental achievement of individuals with ATP8A2 mutations

Patient	Age (years)	Language	Gross motor	Fine motor	Feeding	G-tube
1	5	Non-verbal	Cannot sit	Transfers hand-to-hand	Requires pureed or thicker feeds	Yes
2	2.5	Babbles	Cannot sit	Holds objects, not transferring	Requires thickened foods	Yes
3	2.7	Non-verbal	Cannot roll or support head	Attempting to grasp	Requires pureed or thicker feeds	No
4	6	Non-verbal	Cannot sit	Cannot grasp	No issues	No
5	5	Non-verbal	Cannot sit	Hand grasp	Feeding difficulties	No
6	9	Non-verbal	Impaired	Impaired	Feeding difficulties	No
7	15	Non-verbal	Impaired	Impaired	Feeding difficulties	No
8	16^a	None	Impaired	Impaired	Feeding difficulties	No
9	28	None	Impaired	Impaired	Feeding difficulties	Yes
10	8.5	Monosyllabic & disyllabic words	Cannot support head	Holds objects	Requires soft foods	No
11	5.5	Uses signs, pictograms	Cannot support head	Attempting to grasp	Requires crushed foods	No

ISSN: 1750-1172