Developmental Psychological Perspective on Angelman Syndrome



Table of Contents

Introduction3

Symptoms4

Physical phenotype4

Treatments6

Developmental psychological perspective6

Home Care6

Schooling7

Communication8

Conclusion8

References10

Developmental Psychological Perspective on Angelman Syndrome

Introduction

According to the Angelman Syndrome Foundation (ASF), the syndrome is a neurological disorder associated with mental retardation. The first diagnosis dates back to the year 1965 by Dr. Harry Angelman. Hence, the syndrome is named after him. The man relates " About thirty years ago, three disabled children were admitted at different times in my children's ward in England. They had a number of anomalies and, although at first glance they have appeared to suffer from various ailments, I felt that their illness was related to the same cause." (Angelman, 1965)

The English physician released the discoveries he made with children who had some symptoms, now characteristic of Angelman syndrome. In its initial publication, Angelman syndrome was the study of 150 cases. Today over 800 cases have been identified by the ASF of which 500 are in the United States. There are thousands of other cases unrecognized, undiagnosed, confused with autism, cerebral palsy and other diseases. Angelman Syndrome affects one baby in 12,000 births.

Angelman syndrome is most often recognized by a pediatric neurologist or pediatrician or a geneticist. Parents may suspect the diagnosis after reading articles about this syndrome or have met a child who has it. It is between 3 and 7 years after the diagnosis is most often worn, that is to say when the typical behaviors and characteristics of the syndrome become evident.

Symptoms

They vary by case. However, all patients have severe mental retardation, ataxia (balance problems with walking instability) and problems of language or speaking. Their behavior is also unique: it is exceedingly happy, with smiles and easy laughter. Children affected by Angelman syndrome also experience hyperactivity. It is very common that Angelman syndrome is associated with seizures, and a slowdown of growth in the circumference of head. Some children also have strabismus, eating disorders or sleep disorders (Wing, 2005).

Physical phenotype

Poor head circumference curve progressed to absolute or relative microcephaly (80% cases). Most individuals have the PC below P25 at 3 years of age with subsequent flattening of the head. Craniofacial level changes are secondary to CNS disorders as the brain microcephaly are small to fit the base of the skull.

Feeding problems are frequent (75%) but generally not severe. These manifest a difficulty in sucking and swallowing. The tongue movements may be uncoordinated push and oral-motor movements. There may be problems with sucking in breastfeeding with a bottle. These symptoms are confused with spitting up milk intolerance or gastroesophageal reflux.

Prognatia is secondary to excessive movements with the mouth and chewing, but sometimes it seems more than it is, because the jaw is directed forward and up and there are massive midface hypoplasia.

Large mouth with teeth apart. The tongue is normal in shape and size. However 30-50% of the patients have been observed to push the same outwards. Some drool constantly and have the tongue outside the mouth, while in others only the tongue comes out from the mouth to ...