SETD5-related syndromes occur when there are changes to the SETD5 gene that prevent the gene from working as it typically does and causes developmental delay, intellectual disability, delayed language, and autism spectrum disorder (ASD). The SETD5 gene is found on chromosome 3 and helps to control whether many other genes in the body are “switched on” or “switched off.” Variations in the SETD5 gene can alter how many parts of the body develop or function. SETD5-related conditions are rare with fewer than 50 individuals described in the medical literature.
In most individuals with SETD5-related syndromes, the gene variant occurred when the baby was conceived and is not seen in the parents. However, in rare cases, the variant is passed to the child from a parent who may only be mildly affected.
A variation in the SETD5 gene can affect children in different ways with some more severely affected than others. Currently, it is not possible to reverse or repair this gene change, therefore, early intervention to address the specific needs of each child is important.
Maddy is an enthusiastic and dedicated physiotherapist. Maddy first established her passion for pediatric physiotherapy during a student placement in her final year of university. After establishing her broad skill set at Royal Prince Alfred Hospital in Sydney in areas from intensive care to musculoskeletal physiotherapy, Maddy is thrilled to be part of the team at NAPA and dedicate herself to this exciting area of practice. She believes in empowering children and their families to allow each child to reach their highest potential and achieve their goals. In her spare time, you will find Maddy catching up with friends, visiting her sister in Canberra, playing golf, or attempting and most likely failing a new recipe.
NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.
