Angelman syndrome is a complex genetic disease that affects the nervous system in children, characterized by microcephaly (small head size), epileptic disorders and atypically cheerful disposition. Pathology causes a delay in the mental development of the child, significant impairment of speech and coordination of movements. This neurological disease is also called the “happy puppet syndrome” because sick children smile a lot, laugh, and wave their arms. What other signs may indicate Angelman syndrome? Is this pathology treated? Referring to the expert advice.
Causes of pathology
Angelman Syndrome got its name from Harry Angelman – a British pediatrician who first, in 1965, recognized and differentiated the typical signs of the disease, many of which are similar in symptoms to autism or cerebral palsy.
The disease is rare, diagnosed in one of 10,000 to 20,000 children. Both sexes are equally susceptible to pathology. The reason is a mutation of the Ube3a gene in chromosome 15 in the mother. More rarely, the syndrome is caused by the inheritance of two copies of this gene from the father, chromosomal rearrangement (translocation), and disruption of egg development.
Symptoms of the disease
To date, the symptoms associated with the disease are clearly defined. Delayed development is the first symptom that becomes apparent by the time a newborn is 6 months to 1-year-old. Others – convulsions, impaired speech, mental retardation – persist throughout life. Immediately after birth, children with Petrushka syndrome (another unofficial term for Angelman’s disease in Russia) seem completely normal. However, during the first month after birth, nutritional problems are already noticeable in children.
Perhaps the brightest characteristic of the disease is a state of happiness and satisfaction – a unique behavioral feature in which a sick child or adult will laugh and smile often while maintaining elevated mood and excitability for a long time. Often walk with elbows raised and wrists bent. Laughter and smile are, at times, inappropriate. Despite their physical and intellectual limitations, children have unlimited curiosity and are constantly on the move. They enjoy the game and socializing with people, show a deep desire for personal communication and affection, they are happy to pose in the photo.
So, list the signs of Angelman syndrome:
- small head circumference;
- wide-set eyes / squint;
- sleep problems (no more than 4-5 hours at a time);
- severe speech disorders;
- hypotension (decreased muscle tone);
- abnormal increase in the size of the mouth and the lack of growth of the upper jaw;
- convulsions (manifested when children reach the age of 2-3 years);
- specific behavior (constant smile on the face, laughter for no reason, flap your arms);
- symptoms of attention deficit disorder;
- ataxia (imbalance and coordination of movements);
- sensitivity to heat;
- thirst for water and shiny objects;
- rough facial features (bulging head, wide lips, and tongue, small deformed teeth);
- unnaturally light skin and hair;
- flat nape;
- smooth palms with folds;
- epileptic seizures.
Angelman syndrome complications
Most children with this disorder have:
- Increased excitability. It is difficult for a sick child to concentrate on a specific activity for a certain period of time. Inability to concentrate forces them to move from one class to another. In fact, they cannot cope with simple tasks, they cannot play with certain toys. Put your fingers into your mouth while playing or practicing.
- Increased appetite. Older children and adolescents have gluttony, which leads to overweight.
- A curvature of the spine. Upon reaching a mature age, patients experience spinal deformity with lateral curvature.
- Difficulty sleeping. Children with Angelman Syndrome have less need for sleep than regular children.
- Power problems. Babies and older children may have problems with swallowing and sucking, which hinders their growth and development.
As they grow older, some of these behaviors soften, and hyperactivity and poor sleep may disappear completely.
Angelman syndrome is an incurable disease, but today there are many options for maintenance therapy. Thanks to her, the intensity of some symptoms is significantly reduced. To cope with the pathology help:
- anticonvulsant drugs that reduce the number of epileptic seizures and allow them to be managed;
- melatonin improves and prolongs sleep;
- drugs for the prevention of gastroesophageal reflux in young children;
- behavioral and communicative therapy that improve the quality of life of patients;
- occupational therapy for self-service training (for sick children, clothes without fasteners, buttons, shoes without laces are preferable);
- strabismus surgery;
- wearing braces.
Angelman syndrome is not a progressive disease. With proper therapy, the symptoms diminish, but in any case, patients need lifelong care.
If you notice oddities in your child’s development and behavior, discuss this with your pediatrician. When examining a child, a specialist should be careful, since the probability of making an erroneous diagnosis is high. Among the features a doctor should pay attention first:
- on the characteristic anomalies of the head and face;
- happy smile;
- missed or delayed stages of child development, especially lack speech;
- motor dysfunction (small tremors, a flap of arms, tight gait);
- history of development with convulsions.
Of course, early diagnosis will allow you to use all the therapeutic options that will help improve the life of your child!