Treatment Team of Specialists for Sanfilippo Syndrome
Sanfilippo syndrome can affect many systems in the body and lead to a variety of symptoms, ranging from neurological problems to developmental delays. To better diagnose and treat these symptoms, a multidisciplinary team of medical professionals usually work together with patients and their families. Here is information about the specialists who can help treat patients with Sanfilippo.
Researchers think that the buildup of a molecule called heparan sulfate in nerve cells causes the neurological symptoms of Sanfilippo syndrome. As the disease progresses, symptoms often worsen, and young patients begin to lose the skills they’ve previously learned. In the later stages, they may also begin to experience seizures.
Neurologists specialize in the nervous system. They can diagnose and provide treatment options for the neurological symptoms of Sanfilippo syndrome.
Developmental-behavioral pediatricians may become an important member of a Sanfilippo patient’s care team. Developmental delays, behavioral problems, and sleep disturbances are all common symptoms of Sanfilippo syndrome.
The developmental-behavioral pediatrician will work closely with parents, the rest of the family, and the child’s school to recommend strategies to support the child. He or she may also recommend medications to help reduce symptoms.
Many children with Sanfilippo syndrome develop bone disorders that can affect the joints. These disorders may include hip dysplasia — where the femur, or head of the upper leg bone, doesn’t fit well into the hip socket — breakdown of bone tissue on the head of the femur, and scoliosis.
An orthopedic surgeon can perform surgery to correct these issues.
Difficulty eating and swallowing in children with Sanfilippo syndrome can lead to malnutrition and potentially life-threatening problems, such as aspiration pneumonia where accidentally inhaled food or liquids cause infections in the lung.
A gastroenterologist may place a feeding tube to reduce the risk of these problems.
Sanfilippo syndrome can cause a number of problems with vision, including damage to the retina that can lead to night blindness, cloudiness of the cornea, glaucoma, optic nerve damage, and ultimately decreased vision.
An ophthalmologist can perform a number of tests to diagnose any of these conditions.
ENT doctors and audiologists
Ear infections are very common in children with Sanfilippo syndrome. An otolaryngologist, more commonly known as an ear, nose, and throat specialist, or an ENT, can help diagnose and treat the infections.
If the child is experiencing hearing loss, an audiologist will be able to recommend treatment options.
As children with Sanfilippo syndrome grow, they may begin to develop heart problems, especially those involving the valves of the heart.
Cardiologists can use a variety of techniques to investigate the structure of the heart and how well it is pumping blood. Based on the findings, they can recommend potential treatments.
Rehabilitation specialists may also become part of a patient’s treatment team, and they include physiotherapists, occupational therapists, and speech therapists. Physiotherapy can help a child retain strength and flexibility, and work on coordination. Occupational therapy can help with learning new skills and performing daily activities. Speech-language pathologists, sometimes called speech therapists, specialize in teaching children how to develop the muscles and skills needed for speech. They also can help patients with techniques to aid in swallowing.
Genetic counseling after a child’s been diagnosed with Sanfilippo syndrome can help parents better understand the impacts of their child’s genetic mutations. Counselors can inform parents about their child’s disease subtype and the potential that any future children may inherit the disorder.
Mental health specialists
Having a child with Sanfilippo syndrome can be stressful for parents and other family members. Behavioral issues can have a devastating effect on the qualify of life of the rest of the family. In some instances, it can even lead to depression in caregivers.
Mental health professionals, such as psychologists or psychiatrists, can help provide strategies to help family members cope with the stress and emotions that may result from caring for a child with Sanfilippo syndrome.
Last updated: Feb. 2, 2021
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