Search Results for: autism
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Editor's Choice
Obsessive-Compulsive Disorder: What It Actually Looks Like Beyond Handwashing
Most people picture OCD as someone washing their hands repeatedly or arranging objects in perfect lines. This image is familiar,…
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22q11.2 Deletion Syndrome (DiGeorge): Heart Defects, Immunity, and Cognitive Effects
Think about a newborn arriving in the world with a heart that does not beat quite right, a thymus gland…
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Tuberous Sclerosis Complex: The Genetic Condition Behind Benign Tumors in Multiple Organs
Tuberous sclerosis complex, often abbreviated TSC, is an inherited genetic disorder characterized by development of benign tumors called hamartomas in…
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Neurofibromatosis Type 1 (NF1): Tumors, Café-au-Lait Spots, and What to Expect
Neurofibromatosis type 1, abbreviated NF1, is an inherited genetic disorder affecting one in every 2,500 to 3,000 individuals worldwide, making…
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Klinefelter Syndrome (XXY): Symptoms, Diagnosis, and What Treatment Can Offer
Klinefelter syndrome is a genetic condition affecting males who are born with an extra X chromosome, resulting in a 47,XXY…
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Tourette Syndrome: Separating Fact From Pop Culture Myths
Tourette syndrome is a neurological disorder characterized by repetitive, involuntary movements and sounds called tics. Named after French neurologist Georges…
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Phenylketonuria (PKU): Why Newborn Screening Has Transformed This Disease
Phenylketonuria, commonly called PKU, is a rare genetic metabolic disorder that affects how the body processes an amino acid called…
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Fragile X Syndrome: The Most Common Inherited Cause of Intellectual Disability
Fragile X Syndrome is a genetic disorder that causes intellectual disability and is the most common inherited cause of intellectual…
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Rett Syndrome: The Neurological Condition That Primarily Affects Girls
Rett Syndrome is a rare neurological disorder that primarily affects girls and causes serious problems with brain development and nervous…
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Hypoparathyroidism: The Calcium Deficiency Caused by a Hormonal Problem
Imagine a young woman experiencing her first seizure. EEG ordered. Seizure medications started. Seizures continue despite medication. Epilepsy diagnosed. Yet…
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Editor's Choice
Tuberous Sclerosis Complex: The Genetic Condition Behind Benign Tumors in Multiple Organs
Imagine a young child with distinctive facial skin lesions—angiofibromas (once called acne rosacea). A sibling has seizures starting in infancy.…
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Editor's Choice
Neurofibromatosis Type 1 (NF1): Tumors, Café-au-Lait Spots, and What to Expect
Imagine being born with light brown patches of skin—café-au-lait spots. Your parents assume they’re birthmarks. Yet these spots are the…
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Science
How Do Vaccines Work?
Imagine training your body’s army to defeat an enemy before the enemy ever shows up. That’s exactly what a vaccine…
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Editor's Choice
Phenylketonuria (PKU): Why Newborn Screening Has Transformed This Disease
When baby Arjun’s newborn screening blood spot test came back with elevated phenylalanine levels at just 48 hours old, his…
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Editor's Choice
Fragile X Syndrome: The Most Common Inherited Cause of Intellectual Disability
When 4-year-old Rohan’s parents brought him to a developmental specialist concerned about his severe speech delays, hyperactivity, hand-flapping, and tendency…
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