There are several developmental and neurological problems associated with Angelman syndrome, a rare genetic disorder affecting the nervous system. Angelman syndrome patients have distinctive facial features, severe intellectual disabilities, speech impairments, movement and balance difficulties, and an excitable and happy disposition. Other health problems, such as seizures, sleep problems, and feeding difficulties, may also occur. People with Angelman syndrome cannot be cured, but with proper care and support, they can live fulfilling lives.
There is a problem with a gene on chromosome 15 called UBE3A that causes Angelman syndrome. This gene plays an important role in normal brain development and function. We inherit two copies of this gene from each parent, but only the mother's copy is active in the brain, while the father's copy is silent. Genomic imprinting, a process that regulates how genes are expressed in a person based on their parental origin, is responsible for this.
The maternal copy of UBE3A gene in Angelman syndrome is often missing or mutated, resulting in the brain lacking functional UBE3A proteins. A deletion of chromosome 15 containing the gene can result in this, as can a mutation in the gene itself. Angelman syndrome can be caused by inheriting two paternal copies of chromosome 15 instead of one from each parent, called paternal uniparental dysomy (UPD). Occasionally, Angelman syndrome is caused by other chromosomal changes that affect the expression or activity of the UBE3A gene.
Angelman syndrome is usually not inherited from the parents. It occurs randomly during the formation of the egg or sperm cells or during early fetal development. However, in some families, there is a genetic predisposition to having children with Angelman syndrome. If one of the parents carries a balanced translocation, which involves a rearrangement of chromosomes without losing or gaining genetic material, then this can occur. A balanced translocation does not cause symptoms for the carrier parent, but it can increase the risk of having children with chromosomal abnormalities.
Angelman syndrome symptoms vary from person to person, but they usually become noticeable by 6 to 12 months of age. Among the major symptoms of Angelman syndrome are:
Children with Angelman syndrome have significant delays in reaching developmental milestones such as sitting, crawling, walking, and talking. They may also have memory and learning difficulties.
Children with Angelman syndrome have severe intellectual disabilities that affect their ability to think, reason, and understand. They may have limited or no functional speech and rely on nonverbal communication such as gestures, sign language, or picture symbols.
Children with Angelman syndrome suffer from coordination and balance problems that affect their posture and gait. As well as having stiff or jerky movements, they may have tremors in their limbs, and they may have trouble grasping or manipulating objects using fine motor skills.
Children with Angelman syndrome often have seizures that start between the ages of 2 and 3. They may be mild or severe and vary in type and frequency. They may require medication for control.
Children with Angelman syndrome often smile and laugh, are happy and excitable, are curious and interested in their surroundings, and love water. A number of challenging behaviors may also occur, such as hyperactivity, short attention span, impulsivity, aggression, or self-injury.
Angelman syndrome is characterized by a small head size (microcephaly), an occipital flattening of the back of the head, a wide mouth with wide spaced teeth (macrostomia), tongue thrusting (macroglossia), blue eyes (hypopigmentation), fair skin and hair (hypopigmentation), widely spaced eyes (hypertelorism), a prominent chin (prognathism), and ears that stick out (prominent ears).
A child with Angelman syndrome may have strabismus, which causes the eyes to be misaligned or cross-eyed, affecting their depth perception and vision.
Angelman syndrome children may experience sleep problems including difficulty falling asleep, staying asleep, or waking up early. They may also experience abnormal sleep patterns such as reduced REM sleep or increased deep sleep.
Symptoms of Angelman syndrome include delayed puberty, growth hormone deficiency, or hypothyroidism, as well as osteoporosis and low bone density.
Angelman syndrome is associated with scoliosis, a curvature of the spine that causes back pain and breathing difficulties in children.
Clinical features and genetic testing are used to diagnose Angelman syndrome. Clinical features include developmental delays, intellectual disabilities, speech impairments, movement problems, and movement and balance problems. The genetic testing involves analyzing a blood sample to look for the problem with the UBE3A gene or chromosome 15 to confirm the diagnosis. Genetic testing can identify the specific cause of Angelman syndrome as well as confirm the diagnosis.
The condition Angelman syndrome cannot be cured, but there are treatments that can help manage its symptoms and improve quality of life. There are a number of specialists involved in the treatment of Angelman syndrome, including pediatricians, neurologists, geneticists, psychologists, speech therapists, occupational therapists, physical therapists, and educators. Angelman syndrome can be treated in the following ways:
There are various types and doses of medications that can be used to treat Angelman syndrome, including those to treat seizures, sleep problems, reflux, constipation, and behavioral issues.
It is possible to improve communication, learning, motor skills, and social skills through therapy. The use of gestures, sign language, or picture symbols can help develop nonverbal communication skills. In addition to improving fine motor skills like grasping and manipulating objects, physical therapy can help improve gross motor skills like walking and balancing. Hyperactivity, impulsivity, aggression, and self-injury can all be reduced with behavioral therapy.
People with Angelman syndrome can benefit from individualized education plans (IEPs) that address their specific strengths and needs to provide a stimulating and supportive environment for learning and development. Furthermore, assistive devices and technologies can improve their communication and learning skills.
People with Angelman syndrome and their families can receive emotional and practical support from support groups. Support groups can be an excellent opportunity to connect with other families facing similar challenges. It is possible to cope with stress and emotional issues associated with living with a rare genetic disorder with counseling. Respite care can provide caregivers with a temporary break from their duties.
As Angelman syndrome occurs randomly during egg or sperm cell formation or during fetal development, it cannot be prevented in most cases. Angelman syndrome can, however, be inherited in some families. In cases like this, genetic counseling can help assess the risk of having children with Angelman syndrome and provide information about the available options for prenatal testing or assisted reproduction.
There are several developmental and neurological problems associated with Angelman syndrome, a rare genetic disorder affecting the nervous system. Angelman syndrome patients have distinctive facial features, severe intellectual disabilities, speech impairments, movement and balance difficulties, and an excitable and happy disposition. Other health problems, such as seizures, sleep problems, and feeding difficulties, may also occur. People with Angelman syndrome cannot be cured, but with proper care and support, they can live fulfilling lives.
