Genetic Syndromes

What are genetic syndromes?

Genetic syndromes are characterized by changes in one’s genetic makeup (to one gene or more) that can result in different syndromes and diseases. Common genetic syndromes include Downs Syndrome, Sickle Cell Anemia, Tay-Sachs disease, Cystic Fibrosis, etc. Genetic abnormalities can range from a discrete mutation in a single gene to a large chromosomal abnormality that can mean the addition or subtraction of an entire chromosome or set of chromosomes. Genetic Disorders can be inherited, result from an environmental exposure, or by having preexisting genes that can cause other genetic diseases. Depending on the genetic syndrome diagnosed, it can make it difficult for someone to achieve their interpersonal, professional, or academic goals.

Symptoms vary greatly from person to person, but also vary depending on the genetic syndrome. Some genetic syndromes may not be seen unless given laboratory samples to be tested, while others may be physically seen.

Some signs of common genetic syndromes, include but are not limited to:

• Physical abnormalities (small head, short neck, flat face, upward slanting eyes, etc.)
• Heart disease
• High blood pressure
• Arthritis
• Diabetes
• Obesity
• Stroke-like episodes
• Family history of medical conditions and psychological conditions

Symptoms of genetic syndromes can overlap greatly with the symptoms of a variety of other mental and medical difficulties. Our Thomson neuropsychologists are trained to determine thinking problems associated with genetic syndromes.

What is the treatment for genetic syndromes?

If you or your loved one are diagnosed with a genetic syndrome, it is important to obtain the recommended services and interventions discussed with a neuropsychologist. Obtaining appropriate interventions are crucial to avoid further decline in academic or occupational performance. Thomson’s neuropsychologists can help you better understand you or your child’s learning needs and refer you to appropriate services.

Thomson’s cognitive rehabilitation therapists can partner with you and/or your loved one to teach academic strategies (e.g., organization, memory). Our therapists are skilled in addressing the impact of genetic syndromes on both you and your loved one’s psychological health so that feelings of frustration, depression, or anxious worry do not worsen. Our neuropsychologists can discuss how to obtain an individualized classroom education plan for your child to get specific accommodations at school to maximize ability to benefit from education and demonstrate his/her skill set. We are ready to provide you referrals to outside providers who may help facilitate your or your loved one’s academic and work performance.