More About Secondary Features

In 2005 parents in our family support group began to collect data on the secondary conditions they had been observing in their children.  While the intractable epilepsy and psychomotor delays are well recognized in Dravet syndrome, parents felt they were observing additional difficulties that may be associated with the disorder and are not well understood in this context.  While there is variability from child to child in the presentation of secondary conditions, trends did emerge that suggest the need for well-controlled studies of these conditions.  Associated symptoms need to be sought in a prospective way to facilitate understanding of this disorder.  Appropriate care of affected children must include their identification and management to achieve optimal health.

Growth and nutritional assessment should be part of each child’s coordinated care.  Sixty-one percent of the parents who responded to the survey reported that their children were underweight and small for their age.  Thirty-eight percent report having had specialists in endocrinology, metabolism and/or mitochondrial disorders involved in their child’s care.  One hundred percent report that their children have difficulty regulating body temperature.  Due to the role of fever as a seizure trigger for these children, these parents check their children’s temperature often.  When surveyed as to what they have observed their child’s normal body temperature to be, fifty-two percent reported a figure less than 97.8 degrees Fahrenheit.

Immune susceptibility is a concern needing further investigation.  Seventy-five percent of parents who responded to this survey reported that their children are prone to infection.  Recurring otitis media, sinusitis, or bronchitis occurred in fifty percent.  Eleven and a half percent reported chronic gastritis.  Twenty-three percent had been evaluated by an immunologist, allergist, or infectious disease specialist without finding a cause for this susceptibility.

Orthopedic disorders and movement disorders are another area of concern.  Forty-five percent of parents who responded to this survey reported that their children have movement disorders.  Of those, eighty percent reported gait disturbances with seventy-two percent reporting ataxia.  Sixty-two percent reported tremor affecting fine and/or large motor.  Fifty-seven and a half percent report severe pes planus/pes algus requiring treatment with orthotics.  Though we gathered data on neurogenic scoliosis in 2005, the frequency of anecdotal reports since then renders it obsolete.  Early and regular screening and treatment for these conditions is important for optimal health.

Severe and persistent sleep disturbance that is difficult to treat is common in children with Dravet syndrome.  Eighty-five percent of the parents who participated in this survey reported that their children have nocturnal seizures.  Sixty-seven percent reported sleep disturbances other than seizures.  Premature awakening was reported by thirty-three percent of respondents and insomnia by fifteen percent.  Severe sleep disturbances can be one of the most disruptive aspects of Dravet syndrome for the health of the child and of the family.  It is important to identify these problems and provide appropriate intervention and support.