Congenital disorders are those that arise during the growth of an embryo, and which are present at birth and very often which arise before birth. Congenital disorders also include those conditions which develop within the first month following birth. They can vary widely in their causative factors, their implications on function, and their presentation and evolution over time. Embryonic development is the process by which a human embryo undergoes cellular, physical, and physiological change to develop into a human infant, which then is born and undergoes further development and growth into an adult. Human embryonic development the first step in the development of what will become a human from a zygote, and while it is a tightly controlled process, there is always the potential for changes in this process, and for those changes to have an affect that impacts the life and development of the human body.
One congenital issue that is managed by physiotherapists is Cerebral Palsy. Cerebral Palsy is an umbrella term for chronic, non-progressing neurological conditions that affect a child's ability to move and to maintain posture and balance independently, due to damage to or change in the areas of the brain that control movement, coordination, and muscular reflex. This damage can occur before or after birth. Because neurological conditions present with highly varied features depending on the individual, each diagnosis of Cerebral Palsy will have uique signs and symptoms. Physiotherapy management of Cerebral Palsy depends on the age of the person participating in physiotherapy, as well as the severity of their individual condition. A child with cerebral palsy may attend physiotherapy to support their ability to move safely and engage with play, as well as being provided with gait aids like frames, walking sticks, or other assistive devices. A child with a more severe or impactful form of the disease may require admission to a specialised education provider where therapy is incorporated into the school as a day-to-day input. As the child grows and their bodies and needs change, the therapy they receive will change as well, focusing on promoting safe and sustainable engagement with meaningful activities like education, training, and supporting independence at home and in the community as is safe and sustainable.
Muscular dystrophies are another family of congenital disorders which are progressive, are characterised by increasing muscular weakness which most often begins in the legs, and which may affect the heart and the lungs which can create life-threatening complications in their more serious presentations. This disorder is caused by irregularities and mutations in the genes responsible for muscle structure, and as time goes on, the effect of these mutations becomes more profound and the level of disability becomes more significant. Physiotherapy management of muscular dystrophies may require specialist input by clinicans trained in muscular dystrophies generally in addition to the specific condition. Management will depend on the severity of the disorder at initial assessment, the assessed change in severity over time, and will be based on the understood best practice regarding the condition. Depending on the rate at which the level of disability changes, physiotherapy input will necessarily change with time to support participation in the community as well as individual independence, alongside other professionals that may be involved depending on the individual's need.
Another common congenital disorder is spina bifida, which occurs when there is a problem in the formation of the spinal cord in the developing embryo in which the spinal column fails to close and protect the spinal cord and associated nerves. This can happen at any level of the spine but most commonly happens in the lower back or lumbar region. Management of spina bifida is typically medical at first, and focuses on surgical intervention where necessary to minimise the risk of infection and damage to the exposed spinal cord. Depending on the severity of the condition, a child with spina bifida may present with bladder and bowel control issues, mobility issues, and cognitive issues. As is common with congenital disorders, the breadth and nuance of presenting symptoms means that physiotherapy management of these conditions will require input from a broad range of professions working together to address deficits across all domains of life.
These are three examples of congenital disorders. The common thread between them is that while they may be grouped under umbrellas of diagnosis, the individual features of each of these disorders requires individualised treatment conducted by a clinician trained in paediatric physiotherapy as well as ideally oriented to the physiotherapy management of that problem, in the context of a broader multidisciplinary team. For a person with a congenital disorder, their therapy needs will evolve over the span of their lives, as the demands of the world around them change and as their bodies change as well, both through growth and ageing as well as due to the progression of their condition, which may be rapid, intermittent, or gradual. Management of a congenital disorder is a highly individualised process that requires skill, patience, effort, and time, focused on building independence and capacity and on making the most of the capabilities of the patient, while providing them with appropriate support and management.
At Atlas Physio, we will provide you with education, structured management, and ongoing monitoring of your pain both in-clinic and out. Contact us to arrange an assessment, and to take the first step on a course of corrective care today.