FOXG1 GLOSSARY

FOXG1 VOCABULARY GUIDE

Agenisis of the corpus collusum is present in some but not all children diagnosed with FOXG1 Syndrome. It is a rare brain abnormality in which there is a partial or complete absence of the corpus callosum. This is the area of the brain which connects the two cerebral hemispheres. 

Amino acids are the “building blocks” of proteins.

A codon is a sequence of 3 bases/nucleotides. A codon results in the formation of what is called an amino acid. Therefore, genes are made up of various codons that form different sequences of amino acids. These amino acid sequences result in the formation of proteins.

Cortical visual impairment (CVI) is a decreased visual response due to a neurological problem affecting the visual part of the brain. Typically, a child with CVI has a normal eye exam or has an eye condition that cannot account for the abnormal visual behavior. 

DNA, short for deoxyribonucleic acid, is a set of instructions that tells the cell how to carry out its many important functions in the body. Bases, also known as nucleotides, are the so-called “building blocks” of DNA. There are 4 different bases that make up DNA, these are A, T, C and G (A=Adenine, T=Thymine, C=Cytosine and G=Guanine). These 4 letters are essentially the DNA’s alphabet and are joined together to make up strands of DNA/the DNA sequence.

A gene is a sequence of DNA that codes for a particular protein. Each gene in our body is made up of a different sequence of the 4 bases. This sequence can also vary in length. Each gene’s unique DNA sequence stores information that provides it with the ability to carry out its individual function in the cell.

OT acronym for Occupational Therapy. The role of an Occupational Therapist is to work with children and young people (0-18 years) is to provide intervention, support and/or advice where there is disability or impairment which impacts on their performance and participation in everyday activities of life. Your local paediatrician should refer you to a local therapist. Early referral is important to help with your child's development.

Physio short for Physiotherapist. Children’s (Paediatric) physiotherapy is the treatment and care of babies, children and young people from birth to 18 years. They use their specialist skills, expert knowledge and experience of childhood development and disabilities to help support children/young people to optimise their physical potential. Referrals are usually made through your Paediatrician. 

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