Down’s Syndrome: Everything You Need to Know
Introduction: Down’s syndrome is a genetic condition that affects approximately 1 in every 700 babies born in the United States. It is caused by an extra copy of chromosome 21, which leads to physical and intellectual disabilities. Despite the challenges of Down’s syndrome, individuals with this condition can lead fulfilling lives. Physical Characteristics of Down’s […]
Intellectual Disability: Causes and Symptoms
Introduction: Intellectual disability is a condition that affects a person’s cognitive abilities and adaptive functioning. It is a lifelong condition that begins before age 18 and is characterized by significant intellectual functioning and adaptive behavior limitations. Intellectual functioning refers to a person’s ability to learn, reason, and problem-solve. Adaptive behavior refers to a person’s ability […]
Prader-Willi Syndrome: A Complex Genetic Disorder
Introduction: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterized by a wide range of physical, cognitive, and behavioral challenges. It was first described in 1956 by Swiss doctors Andrea Prader, Heinrich Willi, and Alexis Labhart. Causes and Genetic Basis of Prader-Willi Syndrome: PWS is caused by the abnormal function of specific genes located on […]
Phenylketonuria (PKU): Symptoms, Diagnosis, and Treatment
Introduction: Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine. PKU is a rare disorder, affecting only about 1 in 10,000 to 15,000 newborns in the United States. However, all newborns must be screened for PKU shortly after birth, as early diagnosis and treatment can prevent […]