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Showing posts with the label Syndrome

Angelman syndrome-associated epilepsy

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An uncommon genetic illness called Angelman syndrome (AS) predominantly affects the nervous system and is caused by many developmental and neurological difficulties. This condition is brought on by the UBE3A (Ubiquitin Protein Ligase E3A) gene losing its ability to function, usually as a result of a mutation or deletion on chromosome 15. A protein that is important in the brain’s neurons’ typical operation is encoded by this gene. Patients with Angelman syndrome frequently show severe speech impairment, developmental delays, and intellectual difficulties. They often exhibit a particular behavioral pattern that includes a propensity for frequent giggles, hyperactivity, and an interest in water. Motor coordination problems are also prevalent, resulting in a particular gait with extending arms. Clinical observations, genetic tests, and molecular methods are frequently used to diagnose this condition early in life. Behavioral and educational support, along with therapeutic therapies includ...

Hypoxic-Ischemic Encephalopathy (HIE)

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INTRODUCTION It is also known as hypoxic-ischemic encephalopathy, is a clinically defined syndrome (Kurinczuk, White-Koning, & Badawi, 2010) . It is a condition in which neonates are unable to perform normal neurologic functions and are unable to maintain normal breathing, possible seizures and unconsciousness is common (Sarnat & Sarnat, 1976) . It occurs due to brain injury as a result of which oxygen supply to the brain is below normal known as asphyxia and if this condition persists brain tissues can get damaged. OCCURRENCE It occurs mostly in premature infants and if it occurs in about 35 th week of fetal development it is likely to cause periventricular leukomalacia. SYMPTOMS Babies with HIE might exhibit the following signs and symptoms:  (Nelson & Leviton, 1991) Seizures Unconsciousness Difficulty in breathing Missing reflexes Low or high muscle tone Feeding problems RISK FACTORS The following are the risk factors associated with HIE:  (Spai...