The 'Angelman syndrome' is a developmental neurological disorder, marked by severe developmental delay - intellectual disability-, previously it was known as 'happy puppet syndrome', because they have a very characteristic behavioral phenotype: they are often smiling and laughing , regardless of the circumstances, they enjoy “flapping” with their little hands, they have sudden movements due to motor disorders, so they seem peculiarly happy, they tend to be sociable, although most do not develop speech, they establish communication: “their receptive language is more solid, that his expressive language skills ".
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This disease affects approximately one in every 15 thousand people, it is considered a rare neurogenetic disorder due to its frequency; However, it is important that it be made known, since they constitute around a population of 500 thousand people in the world: each one represents not only a number, but an individual of our society, who has special care needs for all their lifetime. In terms of inclusion, we can say that in many countries, various aspects must be reviewed, even in legal matters to provide them with: better education and health as far as possible, as it is their right. The parents of people who suffer from this condition, usually have great occupations ... And also, concerns:
“Many of us are left alone on the road. One of my greatest fears is that my health, resources or life will end so that I can continue taking care of my son: who will love him and who will take care of him? "
Around 80% of the individuals with this condition present: microcephaly, macroglossia (tongue sticks out), they have deep blue eyes (sunken), blond hair and fair skin; which are factors associated with the OCA2 gene, since this protein contributes to skin pigmentation, as well as eyes and hair. People with 'Angelman syndrome' usually have a big smile, as they often have a prominent chin and a large lower jaw, this feature is called: 'mandibular prognathia'. Despite the “angelic” appearance of these children, it is worth mentioning that the syndrome owes its name to an English doctor who described it: Harry Angelman (1973).
They generally develop gastrointestinal diseases and constipation, so it is important to take care of the quality and quantity of their food, as well as weight, since a good appetite is another typical characteristic, making them prone to overweight and obesity. It should be noted that the majority present hypotonia or muscular weakness, as well as deviation of the spine or scoliosis, therefore, when the feeding patterns are not taken care of and the musculoskeletal system is strengthened as much as possible, patients can have serious health complications, such as increased risk of cardiovascular disease.
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 slowdown in head growth during the first year of life, as well as a delay in the development of skills specific to their chronological age and stage of development such as: sucking, eating, crawling, crawling and babbling, these can serve as important "indicators" in neurocognitive development.
"They will always have special needs, surrendering to illness is not an option for us." Father of son with AS
Their life expectancy is normal, although complex; other signs of the condition appear in early childhood. People with 'angelman syndrome' will need support throughout their lives to meet basic needs, so it is advisable to have primary, secondary caregivers and those that are required, as more people join the care: parents or main caregivers may be a little calmer.
Some families can pay for care services of this type… However, it is advisable for primary caregivers to build social networks of support in their community: sometimes, selfless help can be received from those who are least expected, therefore, the importance of there is awareness about these issues, as they sensitize a certain population:
The networks that are woven in society can be a true support, especially when they are intertwined through awareness and empathy
What are some of the most common behaviors that people with 'Angelman syndrome' exhibit? According to the Rare Diseases Information Center (2018), between 80 to 99% of people with Angelman syndrome tend to have very drastic behavioral changes, the cognitive-behavioral disorders they manifest correspond to neuropsychiatric disorders that must be treated ... " He constantly cried inconsolably, it was difficult or sometimes impossible to feed him, it really broke my heart ".
People with 'Angelman syndrome' are 'more active' than the typical child of their age, they seem to have almost inexhaustible energy, during the day they tend to manifest hyperactivity and difficulties in maintaining attention. "They seem to have a battery included", because despite their hypermotoric behavior and their challenges in gait due to ataxia, apparently they do not have as much need to rest or sleep as much.
So the nights are a great challenge for patients and their families because their sleep-wake cycles are abnormal, people with AS have abnormal electrical activity in the cerebral cortex, they manifest violent seizures that usually occur before the age of 3 years. Sleep disorders and other complications they have on a day-to-day basis are debilitating for patients and their caregivers, as they need continuous assistance.
In general, in cases with 'Angelman syndrome' there is no history of the same condition in their family tree; random genetic changes occur during its early embryonic development. The most frequent etiology is related to problems in the expression of UBE3A, a gene that encodes ubiquitin ligase, affecting the neurological development of the individual..
Approximately between 65 to 75% of cases with 'Angelman syndrome' occur by deletion, a minority occurs by existing: mutation, 'impression defect' or by a uniparental dysonomy, which is when two copies of chromosome-15 of the parent, rather than one from each parent. Chromosomal translocation or rearrangement is the least common cause.
Different tests must be carried out before reaching the diagnosis, including genetic ones. Sometimes they confuse 'Angelman syndrome' with cerebral palsy or with some subtypes of autism spectrum disorder (ASD). A very complete evaluation must be made, there are many instruments to carry out the assessment, they are very helpful: the Bayley Scale of Child Development-III, the Preschool Language Scale (PLS-3, Preschool Language Scale) and the VABS Test (Vineland Adaptive Behavior Scales) or Vineland Adaptive Behavior Scales.
Current treatments focus on the management of symptoms, mainly trying 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 the initial stages and until adolescence, it is suggested to see pedopsychiatrists, who focus on treating children and adolescents. Different specialists should be consulted, depending on their discomfort and require psychopharmacological treatment. The outlook is evolving with advances in molecular therapies; however, to date, there are no treatments for the underlying molecular etiology of the disease.
They need intensive therapies to help develop their functional abilities, which is why they require psycho-pedagogical care, speech therapist and perform occupational therapy. Most children with 'Angelman syndrome' like water to the point of fascination, so this element can be worked with in their therapy. Within art therapy, music therapy with sounds, rhythms and movements that evoke water and in the presence of it, provides the playful aspect, and can even act as a factor of adherence to treatment.
It is common for them to manifest some sensory disorders, such as "high sensitivity to heat," so they can benefit from physical therapy 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 the family and patients with the management of situations they face in daily life.
https://rarediseases.info.nih.gov/organizations/479
https://bmcneurosci.biomedcentral.com/articles/10.1186/1471-2202-15-76
https://www.ncbi.nlm.nih.gov/gtr/conditions/C0162635/
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