Multi-profile rehabilitation of a child with diagnosed dysmorphic syndrome conditioned by heterozygous mutation in the ZMIZ1 gene

Karolina Sandecka, Zbigniew Śliwiński

K. Sandecka, Z. Śliwiński – Multi-profile rehabilitation of a child with diagnosed dysmorphic syndrome conditioned by heterozygous mutation in the ZMIZ1 gene. Fizjoterapia Polska 2019; 19(4); 98-103

Abstract
The objective of this article is to present the functioning of a child with a recognized dimorphic syndrome conditioned by a heterozygous mutation in the ZMIZ1 gene, against which multi-profile rehabilitation has been implemented since the early stages of development. For the purposes of this publication, I will use individual case studies. To assess the child’s functioning and progress made, data from observation, medical history, document analysis and results obtained in the course of speech therapy will be used.
Based on the data obtained, it can be concluded that the implementation of a multi-profile therapy and rehabilitation at an early stage of child development and the attitude of parents, who, according to the recommendations of specialists, systematically conducted exercises with the child at home, brought measurable effects in the form of a significant improvement in the boy’s level of functioning.

Key words:
mutation in the ZMIZ1 gene, dysmorphic syndrome, multi-profile rehabilitation of a child, alalia

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