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Angelman syndrome

Angelman syndrome is a neurological disorder predominantly caused in children. It was first discovered by Harry Angelman in 1965. This disorder is also popularly known as the happy puppet syndrome. Angelman syndrome is associated with genetics of the affected person and the symptoms that proceed as a result of it are developmental in origin. Children who are affected by this disorder show delayed developmental characteristics and sometimes impaired functionalities associated with it. Although Angelman syndrome is a rare disorder, studies indicate that one among every forty thousand children born is affected by it. The children are normal at birth but exhibit the symptoms of this disorder gradually.


Clinical Manifestations of Angelman syndrome

The clinical manifestations of the Angelman syndrome are associated with the developing stages of the child after birth. The initial sign are seizures indicating the probability of Angelman syndrome. The first appearance of seizures happens around the age of two. The head size is usually below the average. Mental retardation associated with speech difficulty or total speech impairment along with jerky and quick movements are classical symptoms of the Angelman syndrome.

This disorder is also remarkably noticed by visual facial disorientation such as reduced lip size, wide and constant smiling expression and protruding or prominent chin. Children affected by Angelman syndrome have poor motor skills and also face difficulties in sitting, standing and also walking. Apart from these symptoms, children who are affected by this disorder have strong affinity towards water. Behavior abnormalities such as frequent laughter, hyperactive nature and lack of consistent attention are predominant. Anatomical observations for Angelman syndrome include hypopigmentation, wide mouth with distantly spaced teeth and prominent jaw. People suffering from this disorder also experience heat sensitivity and difficulty in swallowing food.


Diagnosis of Angelman syndrome

The initial diagnosis of the Angelman syndrome is difficult because the symptoms begin to surface around the age of three. Many disorders such as autism have cohesive symptoms like the Angelman syndrome and hence careful analysis of the clinical symptoms and genetic parameters are done to avoid misinterpretation. Genetic testing can be done along with the detection of birth defects in the babies by keeping a track of developmental stages and behavioral patterns. Diagnostic genetic tests such as methylation tests are administered to confirm the Angelman syndrome.


Treatment of Angelman syndrome

Angelman therapy management is predominantly done by effective counseling. Top priority is given to patients who are prone to seizures. Clinical management techniques such as speech therapy, physiotherapy and occupational therapy are done to improve the motor skills. Monitoring and treating epileptic attacks and controlling hyperactive behavior are effective methodologies to treat and manage Angelman syndrome. Consistent monitoring of the general motor skills of the child followed by skills such as learning abilities, self-help and communication can aid in the identification of the disorder at an early stage.

Since sleep disturbance is also a common factor in the Angelman syndrome, consistently monitoring the sleep patterns can help evaluate the condition. Use of hypnotics such as benzodiazepines is recommended only for a short duration as they become addictive after a certain stage. Monitoring young children during the onset of puberty is of much significance as it helps in the effective counseling process involving sexual health and other related issues. Other therapies such as reflexology, hydrotherapy and also music help in the healing process.

Convulsions

Seizures or convulsions are associated with the electrical activity of the brain. They have an impact on major systems of the body and can be fatal if not treated. Seizures are classified predominantly based upon their site of occurrence and the affected organ or system.

Types of Convulsions

General or clonic seizures: In most cases, generalized seizures are also called as tonic-clonic seizures as they involve the entire body. In common parlance, it also referred as epileptic attacks. Patients experience changes in sensations such touch, taste, smell and vision. Hallucinations or auras are also experienced as they begin to influence the emotional balance of a person.

Focal or Partial seizures: These types of seizures are cause because of disturbed electrical activity in the brain which is localized to one part of the brain. It acts on the temporal region of the brain leading loss of memory and balance in extreme conditions.

Petit mal Seizures: These are temporary and their effects are usually limited to 20 seconds. They generate temporary muscle spasms which happen because of electrical imbalances in the brain.

Epilepsy: This type of seizure is closely related to general seizures. The factors associated with the onset of epilepsy may include preexisting conditions such as ischemic heart disease, Alzheimer disease, meningitis and encephalitis.

Fever induced convulsions: These types of seizures predominantly occur in children, infants and toddlers. The initial phase of these convulsions is very intense as they cause much discomfort to the child. They usually subside within a few hours. Most of the fever induced convulsions are caused by viruses and ear infections.

Clinical manifestations

Most convulsions or seizures are characterized by classical muscle spasm symptoms which includes rigorous shaking and frothing with prolonged effects like unconsciousness (blackout). Since the predominant reason associated with convulsions are related to the electrophysiology of the brain, neurological symptoms such as confusion, hallucination, dementia, drooling, lack of bladder control and sudden loss of balance may also be noticed.

Convulsions also have effects on the emotions of a person as many people complain of unprecedented symptoms such as sudden aggression, depression, mood swings, panic, extreme laughter and joy for a temporary period of time. Warning signs often appear before any form of seizure such as dizziness, sensitivity to light, vertigo and nausea.

Seizures can also occur as a result of withdrawal from use of drugs such as barbiturates, valium or benzodiazepines. Drug abuse and alcohol abuse along with preexisting health complications such as end-stage renal disease, renal failure and congenital heart disease can indicate high percentage of seizure onset. Seizures also occur in conditions such as Steven Johnson syndrome, a disease occurring in children. In addition to these clinical manifestations, seizures can occur because of severe brain injury, shock or even during athletic events as result of extreme adrenaline levels in the blood.

Diagnosis and Treatment

Epileptics are diagnosed with a meticulous examination of their history. Various biochemical tests such as sodium levels, SGOT, SGPT and blood glucose levels are analyzed. Electro encephalogram is done to understand the electrophysiology of the brain. In some cases, neurologists recommend MRI and CT scans to understand the presence of any abnormalities or to identify any kind of trauma caused in the brain or the spinal cord.

In most cases seizures are treated with antidepressants as the predominant cause of any form of seizure is depression. Anti epileptic drugs such as sodium channel blockers and GABA transaminase inhibitors are recommended.


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Bibliography / Reference

Collection of Pages - Last revised Date: October 20, 2019