Cohen syndrome
Overview
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is believed to be a gene mutation at locus 8q22 gene COH1.[1] Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression
Symptoms
* Obesity of body trunk *begins mid-childhood * Low birth weight * Postnatal growth deficiency * Reduced muscle tone * Weakness
Diagnosis
Diagnosing Cohen Syndrome is difficult at best. It is a process of elimination as many of our children are misdiagnosed due to the rarity and lack of knowledge regarding Cohen Syndrome. Most parents of children with Cohen Syndrome have self diagnosed the syndrome. We have all searched for information on the various chronic conditions hoping to make a connection. Multiple congenital anomalies are just one of the few first diagnoses given to our children.
Prognosis
Varying symptoms lead to varying prognosis. Mental retardation can range from mild to severe. However, there is no way to predict the level of developmental delay a specific child will experience. Language deficiencies also vary a lot, with some children never learning to speak at all and others speaking full sentences. The hypotonia observed in infancy may persist and moderate obesity usually develops in mid-childhood.
Treatment
Treatment of Cohen syndrome is focused on improving or alleviating symptoms as they arise. There is no cure for Cohen syndrome. Early correction of vision problems, usually with glasses, often leads to general improvement of cognitive skills, an area of marked deficit in affected individuals. As is the case for many disorders involving hypotonia and slowed development, physical and occupational therapy are invaluable tools. These treatment strategies are important at any age, but should be started as early as possible. There is no need to wait for a definitive diagnosis of Cohen syndrome as any child with hypotonia can benefit from physical and occupational therapy.