'Angelman syndrome' is a neurological developmental disorder, marked by severe developmental delay - intellectual disability -, previously known as 'happy puppet syndrome', as they have a very characteristic behavioral phenotype: they are often smiling and smiling , no matter the circumstances, they enjoy "fluttering" with their little hands, they have sudden movements due to motor disorders, so they seem peculiarly happy, they are usually sociable, although most do not develop speech, they establish communication: "Your receptive language is stronger than your expressive language skills."
- 1 What is the prevalence of 'Angelman syndrome'?
- 2 What are some physical characteristics?
- 3 When do the symptoms of 'Angelman syndrome' begin to become apparent?
- 4 Main symptomatology
- 5 Etiology
- 6 Therapeutic options
What is the prevalence of 'Angelman syndrome'?
This condition affects approximately one in 15 thousand people, it is considered a rare neurogenetic disorder due to its frequency; However, it is important to make it known, as they constitute around a population of 500 thousand people in the world: each represents not only a number, but an individual of our society, which you have special care needs for your entire life. On issues of inclusion, we can say that in many countries, several aspects should be reviewed, including in legal matter to procure them: a better education and health as much as possible, as it is their right. The parents of people who suffer from this condition, usually have large occupations ... And also, concerns:
“Many of us are left alone on the road. One of my biggest fears is that my health, resources or life is over in order to continue caring for my son: who will love him and who will take care of him? ”
What are some physical characteristics?
About 80% of individuals with this condition have: microcephaly, macroglossia (tongue sticks out), have deep blue eyes (sunk), blond hair and fair skin; which are factors associated with OCA2 gene, because this protein contributes to the pigmentation skin, as well as eyes and hair. People with 'Angelman syndrome' usually have a big smile, as they often have a prominent chin and large lower jaw, this characteristic is called: 'mandibular prognathia'. Despite the “angelic” aspect of these children, it is worth mentioning that the syndrome owes its name to an English doctor who described it: Harry Angelman (1973).
Generally develop gastrointestinal diseases and constipation, so it is important to take care of the quality and quantity of your food, as well as the weight, since good appetite is another typical characteristic, making them prone to overweight and obesity. It should be noted that most have hypotonia or muscle weakness, as well as deviation of the spine or scoliosis, so when feeding patterns are not taken care of and the musculoskeletal system is strengthened as much as possible, patients may have serious health complications, such as a higher risk of cardiovascular disease.
When do the symptoms of 'Angelman syndrome' begin to become apparent?
During the first months of life parents may notice a cranial deformity, the baby's head seems shorter, wider and flattened at the occipital level, this is called brachycephaly, other of the most visible signs begin to develop between 6 and 12 months, parents can detect a deceleration of head growth during the first year of life, as well as delays in the development of skills of their chronological age and stage of development such as: sucking, eating, crawling, crawling and babble, these can function as important "indicators" in neurocognitive development.
“They will always have special needs, surrendering to the disease is not an option for us" Father of son with SA
Their life expectancy is normal, although complex; Other signs of the condition appear in early childhood. People with 'angelman syndrome' will need support all your life to meet basic needs, so it is advisable to have primary, secondary and required caregivers, while more people join the care: parents or primary caregivers can be a little quieter.
Some families may pay for such assistance services ... However, it is advisable that primary caregivers weave supportive social networks in their community: sometimes, selfless help can be received from those least expectedTherefore, the importance of awareness about these issues, as they sensitize a certain population:
The networks that are woven in society can be a real support, especially when they are intertwined through conscience and empathy
Angelman: other aspects of the syndromic picture
What are some of the most frequent behaviors that people with 'Angelman syndrome' have? According to the Rare Diseases Information Center (2018), between 80 and 99% of people with Angelman syndrome usually have very drastic behavioral changes, the cognitive-behavioral disorders they manifest correspond to neuropsychiatric disorders that must be treated ... "I was constantly crying inconsolably, it was difficult or sometimes impossible to feed him, my heart really broke."
People with 'Angelman syndrome', are 'more active' than the typical child of their age, seem to have an almost inexhaustible energy, during the day they usually manifest hyperactivity and difficulties in maintaining attention. "They seem to bring battery included”, Because despite their hypermotoric behavior and their challenges in the march due to ataxia, they apparently do not have so much need to rest or sleep so much.
So the nights are a great challenge for patients and family because their sleep-wake cycles are abnormal, people with SA have an abnormal electrical activity in the cerebral cortex, manifest violent convulsions that usually occur before 3 years of life. The sleep disorders and other complications that they have every day, are debilitating for patients and their caregivers, because they need continuous assistance.
In general, in cases with 'Angelman syndrome' there is no history of the same condition in your family tree; During its early embryonic development random genetic changes occur. The most frequent etiology is linked to problems in the expression of UBE3A, gene that encodes the ubiquitin ligase, affecting the neurological development of the individual.
Approximately 65 to 75% of cases with 'Angelman syndrome' occur due to deletion, a minority occurs when there is: mutation, 'printing defect' or for one uniparental dystonia, which is when two copies of chromosome-15 are inherited from the father, instead of one from each parent. The translocation or chromosomal rearrangement They represent the least frequent cause.
Different tests should be performed before reaching the diagnosis, even genetic. Sometimes, they confuse the 'Angelman syndrome' with cerebral palsy or with some subtypes of autism spectrum disorder (ASD). A very complete evaluation must be done, there are many instruments to perform the assessment, they are very helpful: the Bayley Child Development Scale-III, the Preschool Language Scale (PLS-3, Preschool Language Scale) and the VABS Test (Vineland Adaptative Behavior Scales) or Vineland Adaptive Behavior Scales.
Current treatments focus on the management of symptoms, mainly to reduce them or give relief if possible, especially those that are debilitating for the patient. Therefore it must be approached from several disciplines, they require: geneticists, neurologists, psychiatrists, in early stages and until adolescence it is suggested to see paidopsychiatrists, which focus on treating children and adolescents. Different specialists should be consulted, depending on the discomfort that afflicts them and require psychopharmacological treatment. The outlook is evolving with advances in molecular therapies; however, so far, there are no treatments for the underlying molecular etiology of the disease.
They need intensive therapies to help develop their functional skills, so require psychopedagogical attention, logotherapist and perform occupational therapy. Most children with 'Angelman syndrome' like water to the point of fascination, so they can work with this element in their therapy. Within art therapy, the music therapy With the sounds, rhythms and movements that evoke the water and in the presence of it, it brings the playful aspect, and can even act as a factor of adherence to the treatment.
It is common to manifest some sensory disorders, such as “high heat sensitivity ”, so they can benefit from physiotherapy and refreshing water activities with the proper supervision of a responsible adult. Swimming is a very complete sport, which helps them channel all that extra energy they have, while providing multiple benefits to their musculoskeletal system. It should be noted that cognitive behavioral therapy (CBT) has shown good results to help family and patients with the handling of situations that they face in daily life.