The term pontocerebellar hypoplasia (PCH) refers to a group of disorders characterized by abnormal brain development leading to severe intellectual and physical disability. They are inherited in an autosomal recessive…
In most cases, the unborn child is not diagnosed with PCH2 during pregnancy. However, it has been possible to diagnose the condition before birth using genetic testing for several years…
Puberty is a time of change. The child turns into an adult, both physically and mentally. With the onset of sex hormone production, the adolescent body begins to change. Course…
The word apnea comes from Greek apnoia, which means non-breathing. Apnea is therefore a stoppage of breathing. This stoppage of breathing can last just a few seconds up to a…
Sleep problems are very common in (small) children. This is considered normal in the first year of life, as the sleep-wake cycle is still developing and waking up at night…
A motor disorder in the form of frequent, involuntary movements and a significant impairment of voluntary motor skills is one of the main symptoms of PCH2. Different Movement Patterns This…
Reflux comes from Latin “refluxus” and means backflow. Gastroesophageal reflux occurs when (acidic) stomach contents flow back into the esophagus. This happens when the sphincter muscle between the esophagus and…
Epilepsy means that the brain or individual areas of the brain are overactive and send out too many signals. This can be detected by means of an electroencephalogram (EEG, recording…
Parents of affected children have reported that their children assume a C-shaped posture over a longer period of time, sometimes for several hours. The children seem to feel highly uncomfortable;…
