Managing/Treating SKS

Currently, there is no cure for Smith-Kingsmore syndrome, and no specific SKS treatments approved by any government agency, such as the U.S. Food and Drug Administration (FDA). Treatment and management is based on an individual’s specific symptoms.

Some patients with SKS have been prescribed sirolimus (rapamycin) or everolimus to treat intractable seizures (seizures that cannot be controlled completely by other medications). There is currently no published data about how well this works with SKS patients. Studies are pending to determine the long-term effects of rapamycin on neurocognitive development and more research is needed to clarify potential effectiveness of rapamycin.

Listed below are the types of providers/support services that individuals with SKS might need over time. Managing the medical and educational needs of an individual with SKS will depend on symptoms and severity. The list is not exhaustive, but it is long – please don’t be overwhelmed! Individuals with SKS may see many providers or just a few and we hope that this list will help you navigate and advocate for care.

One particular note about pain – many individuals with SKS have a high threshold for pain, and also have challenges with accurately communicating if/when/where they feel pain, even if they are verbal. Sudden changes in behavior may be caused by things like ear infections, urinary tract infections, constipation or impacted teeth, and you may need to go through a process of elimination with your medical provider.

Because SKS is an ultra-rare and little-known syndrome, a higher level of patient or caregiver advocacy may be required to effectively engage with clinicians, therapists and educators. There’s no one ‘right way’ to approach care – trust your instincts and keep pushing to find healthcare and education professionals who actively listen to your concerns and needs.

Genetics and Genetic Counseling

• Review genetic testing and results
• Provide information about recurrence risk
• Provide coordination of care after diagnosis

Pediatrics

• Annual visits to monitor growth and development
• Referrals to specialists within healthcare system
• Monitoring for illness due to abnormal immune cell function

Dental

• Routine dental and/or orthodontic care
• Some pediatric healthcare networks have providers who specialize in children with intellectual/physical disabilities who would struggle with regular dental visits

Developmental Pediatrics

• Developmental and behavioral evaluations to assess for challenges and to recommend treatments
• Evaluate for appropriate therapies including physical, occupational, speech, feeding, behavioral, vision therapy
• Some individuals may benefit from alternative forms of communication including sign language, assistive technology devices, etc.
• Guide approach for educational support/individualized education plans (IEPs)

Neurology

• If seizures are suspected, an EEG (measurement of the brain’s electrical activity) is recommended
• An MRI should be considered to identify any brain malformations

Sleep

• For individuals who struggle with sleep, a sleep specialist or pediatrician may recommend medical management
• A sleep study may also identify problems that could be medically managed

Gastroenterology and Nutrition

• Management of constipation and bed-wetting
• Management of diet, hyperphagsia (insatiable hunger/overeating)

Ophthalmology/Neuro-ophthalmology

• Screening for cortical visual impairment (CVI)
• Screening for other vision issues that may be challenging to assess in a routine pediatric/primary care visit

Audiology

• Routine hearing screening (newborn and annually)

Endocrinology

• Consider a referral if hypoglycemia develops or if premature (precocious) puberty is suspected

Adolescent Health

• Treatment of issues related to the onset of puberty, including menstrual management

Orthopedics/Physical Rehabilitation

• Evaluate the need for assistive devices due to hypotonia, motor deficits, and/or bone abnormalities

Neuropsychology

• For school-age children, assessments can help identify the most appropriate educational support and schooling

Psychology/Psychiatry

• Mental health and behavior management

Education/Learning

• Some individuals are taught in mainstream school while others benefit from specialized instruction to meet their needs. The amount of support needed varies depending on the individual’s learning level, behavioral profile and/or cognitive impairment
• Continued support and supervision is often necessary into adulthood