What is Familial Dysautonomia?

Familial Dysautonomia is a genetic condition that presents itself at birth in Jewish male and female Familial Dysautonomiababies. It causes dysfunction of the autonomic nervous system, resulting in a variety of issues, including difficulty with: regulation of blood pressure; regulation of body temperature; breathing; swallowing and digestion; and responding when the body is stressed. Familial Dysautonomia also causes dysfunction of the sensory nervous system, which affects protective reaction to pain, hot and cold perception and taste.

What causes Familial Dysautonomia?

Familial Dysautonomia is a genetic disorder and is caused by the gene being passed on from the parents to the child. Both parents of children with Familial Dysautonomia need to be carriers of the gene to pass it on to their children. It is estimated that one in 27 people of Eastern European Jewish descent are carriers of the gene.

How do I know if my child has Familial Dysautonomia?

Genetic testing can be performed to diagnose Familial Dysautonomia. A clinical diagnosis can also be made, which is based on the following criteria:

“Parents of Ashkenazi Jewish background, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, lack of axon flare following intradermal histamine, and no overflow tears with emotional crying.” (Dysautonomia Foundation, Inc., 2006)

Lack of tears is a significant sign of Familial Dysautonomia. Other common traits of children with Familial Dysautonomia include: delay in meeting developmental milestones; decreased muscle tone; weak or absent suck; respiratory congestion; skin blotching; poor weight gain; dysregulation of body temperature; decreased balance and unsteady gait when walking; scoliosis; orthostatic hypotension; blood pressure extremes; difficulty with gastric motility; breath holding; vomiting episodes; diminished or lack of reaction to pain; abrasions of the cornea and dry eyes; drooling and sweating in excess; smooth tongue and diminished sense of taste; and lung infections.

How can I help treat my child’s condition?

Treatment for Familial Dysautonomia is dependent upon the symptoms and severity that a child experiences, since not all children with Familial Dysautonomia will present the same way. Treatment plans are individualized based on the child’s specific needs. Treatments that are commonly used include artificial tears, feeding therapy, speech therapy, occupational therapy, physical therapy, drug management to address autonomic functions, treatment for blood pressure, orthopedic interventions, and respiratory treatments.

Our approach to Familial Dysautonomia at North Shore Pediatric Therapy

At North Shore Pediatric Therapy, our therapists work with children with Familial Dysautonomia using a multisensory approach to provide the child with experiences which help improve their fine and gross motor skills, speech and language skills, oral motor skills, social skills, behavior, sensory processing skills, feeding skills, attention, and any other difficulties that are hindering their ability to fully succeed socially, academically and personally.