Josiah #

Boy, Age: 7
Primary Diagnosis: Genetic Condition (non-DS)
genetic metabolic disease – pyruvate-kinase deficiency – homozygote mutation p-R 446; mild to moderate core and periventricular lesions; generalized muscle hypotonia; severely delayed physical and neuro-psychological development;
Listed: Oct 2018
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Josiah moves in space by turning from back to belly and vice versa. He has started forming some of the perceptions about objects from his constant surroundings and everyday life. He connects some objects from his surroundings with the actions performed with them.

When awake, Josiah is mostly calm. He would laugh out loud when jested. During active interactions with adults Josiah pronounces various sounds and random syllables. Josiah follows a specific dietary regime and has food individually prepared for him. He is fed with a spoon by an adult and has a picky appetite. He is calm during dressing and bathing. Josiah’s sleep is calm.