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Angelman Syndrome

Parents who notice symptoms such as seizures and short attention span of the child should visit a neurologist in Lahore. It indicates that the child might be suffering from Angelman syndrome. The specialist will perform tests for diagnosing the illness and recommend treatment for managing the symptoms.

Angelman syndrome is commonly known as happy puppet syndrome. It is a genetic disorder that causes hindrance in neurological development. The child suffers from seizures and maintaining problems. Additionally, it causes delayed cognitive development and speech-related problems.

Symptoms of Angelman Syndrome

The signs and symptoms that indicate the child suffering from the Angelman syndrome include:

  • The child suffers from ataxia, in which the child is unable to control muscle coordination.
  • The child suffers from speech impairment and can be noticed by the parents/caregivers in the early years.
  • The child is diagnosed with scoliosis. Due to scoliosis, the child has a curved spinal cord.
  • The child remains happy and excited most of the time.
  • The child starts experiencing seizures after two years and it contributes to other physical and psychological problems.
  • The child sleeps less than as compared to others.
  • The child cannot easily concentrate and has a short attention span.
  • The child keeps the tongue out most of the time.
  • The skin, hair, and eyes of the child appear pale.

Known Causes Of The Condition

The causes of Angelman syndrome are:

  • Due to the lack of functioning of the UBE3A gene, the child suffers from Angelman syndrome from birth.
  • The condition may be caused by the mutation or the complete absence of the gene responsible for neurological development.
  • Due to chromosomal changes, there may be the inactivation of the gene that causes the child to suffer from Angelman syndrome.
  • If the child inherits two active uniparental disomies instead of one likelihood of the occurrence of the syndrome increase. However, it is rare.

Preventive Measure

It is impossible to prevent the condition. It is recommended that the couple with a family history of Angelman syndrome; should get counseling before planning an extension for the family.

Complications Associated with Angelman Syndrome

Angelman Syndrome Clinic | Texas Children's Hospital

The child should be diagnosed at an early stage. The treatment would allow the family members to manage the symptoms to avoid further complications. However, if it remains untreated; it can lead to:

  • The caregivers may find it difficult to feed the child.
  • The seizures may worsen causing additional psychological and physical problems.
  • The child is more likely to suffer from scoliosis. In this condition, the spine is curved and causes unbearable pain and compromised heart functioning.
  • The child suffering from the condition has abnormal sleep patterns that can cause anxiety to the caregivers.
  • The child may develop a habit of excessive eating that can cause obesity. It can affect the functioning of the organs along with difficulty in moving.

Tests to Diagnose the Condition

The tests that help diagnose the syndrome are:

  • DNA Methylation Test: The test assists in analyzing the paternal DNA pattern. It helps diagnose Angelman syndrome at an early stage.
  • FISH Test: Fluorescence in situ hybridization test helps detect any chromosomal abnormality that has caused the child to suffer from the condition.
  • Genetic Test: It helps identify any mutation of the UBE3A gene.

Medications and Therapy to Treat the Condition

  • Use of Anti-Seizure Medications: The medications help control the seizures that may cause further complications.
  • Physical Therapy: The therapy helps the child to remain physically active.
  • Communication Therapy: Due to speech impairment, the child struggles to communicate. Learning signs and gestures allows the family members to communicate with the child.
  • Behavioral Therapy: The goal of the therapy is to increase the child’s attention span.

The caregivers must visit a neurologist in Karachi for guidance regarding the treatment that would allow the child and the family members to manage the symptoms.