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The community pediatricians are involved in diagnosing and managing a variety of genetic conditions that may be associated with developmental delay. The following pages will delve into different aspects of this topic.
Our bodies contn approximately 46 chromosomes, which consist of DNA carrying our unique genetic instructions. We receive one set of these chromosomes from each parent, making us distinct from our parents due to the variations in our DNA. Sometimes, these variations are inherited and can lead to difficulties when passed down from generation to generation.
Genetic conditions include disorders such as Down syndrome, tuberous sclerosis, neurofibromatosis, and Fragile X syndrome. These conditions can manifest both physically and mentally and may involve learning disabilities, autism, or attention deficit hyperactivity disorder ADHD.
The nature of genetic conditions varies widely according to the specific genes involved. They often result in a spectrum of symptoms that range from mild physical trts to significant mental challenges.
If you suspect your child may have a genetic condition, discuss your concerns with your General Practitioner GP or School Education and Special Needs Coordinator SENCO. They can guide you on the appropriate referral process for further evaluation.
Characterized by specific physical features and intellectual disability.
A disorder that may result in seizures, skin abnormalities, and kidney problems.
Causing a range of symptoms including skin markings, neurological issues, and developmental challenges.
If your child has been diagnosed with a genetic condition, it's essential to work closely with healthcare professionals. This includes pediatricians who care for your child regularly as well as the genetics team involved in diagnosis and treatment.
During assessments of developmental delay, our team may recomm genetic testing through a microarray analysis to identify specific variations in DNA that could be related to genetic conditions.
We collaborate with various specialists to ensure your child receives comprehensive care tlored to their needs. This includes working closely with genetics experts who can provide specialized advice and support.
Last updated: November 1, 2023
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