Fields of interest

Angelman syndrome

A report describing AS was published in 1965 by a British pediatrician Harry Angelman [1] . AS is a genetic disorder causing neurodevelopmental disease with a conserved and recognizable set of symptoms. Most often, AS is characterized with serious intellectual disability (complete lack of speech and decreased cognitive performance), happy demeanor with easily provoked laughter, movement and balance disorders (ataxia). Among common symptoms are seizures, that start in early childhood; notably, AS shows a characteristic electroencephalographic pattern. Finally, children with AS have sleeping disorders and disrupted circadian rhythm. Less often symptoms include microcephaly and body dysmorphia, gastrointestinal tract disorders, and hypopigmentation [2]. Features, resembling autistic-spectrum disorders, could be observed in people with AS.

Spinal muscular atrophy

SMA is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (brainstem). The severity of symptoms and the age at which they appear vary significantly among individuals with SMA.
There are several types of SMA, classified based on the age of onset and the highest physical milestones achieved. The most common form, SMA type I, also known as Werdnig-Hoffmann disease, manifests in infants. Symptoms may be present at birth or surface within the first few months of life. These include hypotonia (poor muscle tone), weakness in the arms and legs, which is more pronounced in the legs, difficulty with movements such as sitting, crawling, and walking, and problems with swallowing and breathing.

Snijders Block-Campeau
syndrome

SBCS is a recently discovered genetic neurodevelopmental disorder, first described in 2018 by clinical researchers Lot Snijders Blok and Philippe Campeau. Individuals with this syndrome typically present with intellectual disability ranging from mild to severe, developmental delay, and speech impairments. Distinctive facial features are commonly observed, including a broad forehead, high hairline, hypertelorism (widely spaced eyes), epicanthal folds, and a broad nasal tip. Other physical characteristics may include heart defects, skeletal anomalies such as scoliosis, and urogenital abnormalities.