Fri. Jul 12th, 2024


As the world observed the year 2024, International Angelman Day, the founder of The Straight Child Foundation TSCF, a foundation that handles cases of Clubfoot and Cerebral Palsy (CP), Dr. Mrs Peace Amaraegbulam, has said that although Angelman syndrome shares symptoms and characteristics with other disorders including cerebral palsy but it is not CP.

Interacting with our correspondent through WhatsApp chat, Dr. Amaraegbulam, who is a consultant orthopedic surgeon at the Federal Medical Centre Umuahia, said because the condition is so rare, Angelman syndrome is frequently misdiagnosed as cerebral palsy or other disorders.

The medical professional, who listed other progressive disorders that are occasionally misdiagnosed as cerebral palsy as, metachromatic leukodystrophy; Pelizaeus-Merzbacher disease; and Rett syndrome, said that due to the common characteristics, misdiagnosis occurs often.

“People with Angelman syndrome have developmental problems that become noticeable by the age of 6 – 12 months. These disorders differ from cerebral palsy in that they cause breakdowns in cognitive and behavioral skills, not just motor skills”, she further explained.

Dr. Amaraegbulam, who also observed that Angelman syndrome affects 1 in 12,000 to 20,000 people around the world, said that this rare disease occurs when the UBE3A gene in the 15th chromosome, a chromosome that is derived from the mother, loses function, adding also that, “Angelman syndrome is a very rare occurrence and requires genetic testing for confirmation. It is hardly relevant in our environment”.

The medical expert who called for support for people with Angleman syndrome, listed anticonvulsant medication for seizures, physical therapy to help with joint mobility and movement, speech therapy, occupational therapy and behaviour therapy as some of the ways of managing Angelman.

Dr. Peace Amaraegbulam.

Every year, International Angelman Day (I.A.D.) is observed on February 15 to create awareness about Angelman Syndrome, a neurogenetic disorder affecting chromosome 15 that causes intellectual and developmental delays.

It is observed by over 55 international organisations around the world, who all support people with Angelman syndrome, their families and caregivers.

Angelman syndrome was once known as ‘happy puppet syndrome’ because of the child’s sunny outlook and jerky movements. It is now called Angelman syndrome after Dr. Harry Angelman, an English physician at Warrington General Hospital, who first investigated the symptoms in 1965. Most diagnoses are made between the ages of two and five years of age.

Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits.

Adults with Angelman syndrome have distinctive facial features that may be described as “coarse .” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis ). The life expectancy of people with this condition appears to be nearly normal.

Angelman syndrome, AS cases have been reported in different countries and among people of varying ethnic origins. The majority of cases in North America have been found in people of Caucasian descent.

The prevalence of AS appears to be highest in patients of Caucasian descent, and there is no known prevalence of AS in patients of African descent.

There is no specific therapy for AS. The focus of treatment is to reduce seizures, anxiety, and gastrointestinal issues and improve sleep. Seizures may be treated with medications and dietary therapies. Sleep issues may be treated with medications and sleep training.


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