ANGELMAN’S SYNDROME

A genetic disorder causing developmental disabilities and nerve-related symptoms.

Angelmans syndrome usually isn’t detected until developmental delays become noticeable, usually when a baby is about six to 12 months old.

Symptoms include:

Lack of crawling or babbling, minimal speech and frequent smiling and laughter. Inability to walk, move or balance well (ataxia) is also a symptom.

People may experience:

  • Developmental: short stature or speech delay in a child
  • Muscular: abnormality walking or problems with coordination
  • Cognitive: developmental disability or intellectual disability
  • Also common: drooling, happy demeanour, lazy eye, seizures, sleep disorder, or speech impairment.

Treatment consists of

A team of health care professionals will likely work with you to manage your child’s condition. Depending on your child’s signs and symptoms, treatment for Angelmans syndrome may involve:

  • Anti-seizure medication to control seizures
  • Physical therapy to help with walking and movement problems
  • Communication therapy, which may include sign language and picture communication
  • Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development

Diagnosis

The diagnosis of Angelmans syndrome is based on:

  • A history of delayed motor milestones and then later a delay in general development, especially of speech.
  • Unusual movements including fine tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait.
  • Characteristic facial appearance (but not in all cases).
  • A history of epilepsy and an abnormal EEG tracing.
  • A happy disposition with frequent laughter
  • A deletion or inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) or by BACs-on-Beads technology.

Diagnostic criteria for the disorder were initially established in 1995 in collaboration with the Angelman syndrome Foundation (US);[15] these criteria underwent revision in 2005.[16]

Seizures are a consequence, but so is excessive laughter,[17] which is a major hindrance to early diagnosis.

 

Child development centre

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