ANGELMAN SYNDROME - Overview, Facts, Symptoms, Diagnosis

ANGELMAN SYNDROME

Angelman syndrome is a hereditary condition. It causes developmental delays, speech and balance issues, intellectual disabilities, and seizures in certain people. Patients with this condition have energetic, happy personalities and oftenly laugh and smile.

This condition frequently manifests itself first as developmental issues between the ages of 6 to 12 months. And between the ages of 2 and 3, children can start having seizures. Patients with this syndrome have a normal life expectancy. However, the disorder cannot be treated. Sleep, medical, and developmental problems are all addressed during the therapy.

SYMPTOMS

The following are some of the signs and symptoms of Angelman syndrome:

  • Intellectual disability
  • Developmental issues
  • Difficulty moving, walking or balancing
  • No or minimal speech
  • Sleep issues
  • Energetic or happy personality

Angelman syndrome patients may also exhibit the following characteristics:

  • Jerky or stiff movements
  • Seizures 
  • Unusual head size
  • Changes in skin, hair, and eyes color
  • Tongue thrusting
  • Sleep issues
  • Unusual habits

If your children exhibit any of the symptoms listed below, contact your doctor immediately.

DIAGNOSIS

If your children have developmental issues and other symptoms and signs of the condition, including troubles with motion and balance, a tiny head size, and unusual personality, your children’s physician may suspect Angelman syndrome.

Tests

A blood test can mostly provide a definite diagnosis. This genetic analysis can detect Angelman syndrome-related chromosome defects in your child. The chromosome abnormalities linked to Angelman syndrome can be discovered using a set of genetic tests. These tests may cover the following areas.

  • Parental DNA pattern
  • Missing chromosomes
  • Gene mutation

TREATMENT

Angelman syndrome has no specific cure. Targeting specific genes for therapy is the subject of research. The standard treatment aims at addressing developmental and medical concerns. To address your child’s health, a diverse team of health care specialists will most likely collaborate with you. Treatment for this condition may include the following, depending on your children’s symptoms:

  • Physical therapy. This medication is used to control seizures.
  • Anti-seizure medication. This aids in walking and movement difficulties.
  • Behavior therapy. This helps to address communication issues.
  • Physical therapy. This aids in development and helps to fight hyperactivity and attention deficits.

Related Articles

HIDRADENITIS SUPPURATIVA

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Hidradenitis suppurativa, commonly known as acne inversa, is a skin disorder [...]

WOMB BIOPSY

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts A womb biopsy involves the removal of a tiny amount of [...]

WILMS’ TUMOR

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Wilms' tumor, commonly called nephroblastoma, is a kind of childhood kidney [...]