Secondary Conditions

Secondary Conditions

While severe epilepsy and developmental delays are the primary problems of children with many Dravet Spectrum Disorders, a number of other significant health problems are often associated with this disorder. Though there is variability from child to child in the presentation of symptoms, some secondary conditions are quite common. Appropriate care of children with Dravet Spectrum Disorders must include the identification and management of these conditions to achieve optimal health and quality of life.

Autism spectrum characteristics are reported in more than half of people with Dravet syndrome and parents of about 25% of individuals with Dravet syndrome report that there has been a formal diagnosis of autism secondary to the Dravet syndrome. Communication impairments are observed in at least 85% of these individuals.

Signs of dysautonomia; or problems with automatic body functions such as temperature regulation, sweating, heart rate, blood circulation and digestion; are reported to occur in more than 60% of individuals with Dravet syndrome.

Cardiovascular problems have been reported in some people with Dravet syndrome, including rapid or slow heart rate, irregular heartbeat and abnormalities of the structure of the heart. It appears these problems may occur more frequently in people with Dravet syndrome than they do in the general population.

Growth and nutrition concerns may be observed in up to about 60% of children with Dravet syndrome. These may include failure to thrive (underweight, slow growth, small stature), osteopenia (poor bone density), scoliosis (curvature of the spine), problems with eating, appetite or with the absorption of nutrients, or difficulties with the process of puberty.

Coordination and orthopedic disorders are a concern reported by up to 80% of families of people with Dravet syndrome. Symptoms may include gait disturbance such as ataxia and crouch-gait. Pes planus (flat feet) and pes valgus (out-toeing) foot deformities are common and many children have hypotonia (poor muscle tone), hypertonia (tight muscles or spasticity), or hypermobile (loose) or lax joints.

Infections and immune dysregulation are a common problem. Frequent infections of the respiratory tract (ears, nose, sinuses, throat, bronchial tubes and lungs) are reported in many cases of people with Dravet syndrome. Frequent infections of the digestive and urinary tracts (stomach, intestines, bladder and kidneys) can also be a problem. Diagnoses of specific immune abnormalities have been reported in up to 14% of patients.

Sleep disturbances that are severe, persistent, and difficult to treat are common in children with Dravet syndrome. Fifty to 85% may have disruptive nocturnal seizures. Sleep apnea is now being reported in as many as 17% of cases. Other sleep disturbances that are frequently reported are insomnia, premature awakening and night fears.

Dental health can be a concern for people with Dravet syndrome. Delayed tooth eruption (20%) and malocclusions (13%) and bruxism, or grinding of teeth (21%) are common. Other issues reported with more moderate frequency are missing, extra or malformed teeth and oral infections.

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