From: Sanfilippo syndrome: consensus guidelines for clinical care
Area of assessment | At diagnosis | Regularly | As clinically indicated |
---|---|---|---|
Neurodevelopment/neurological | • Cognitive function (formal evaluation) • Adaptive behavior skills (formal evaluation with VABS) • Gross motor function • Fine motor skills • Tone • Sleep • Seizure activity • Movement (walking/gait) • Behavioral symptoms • High-resolution MRI | • Every 6–12 months (by physical exam/history and/or formal evaluation):   • Gross motor   • Fine motor   • Tone   • Sleep   • Seizure activity   • Movement (walking/gait)   • Behavioral changes | • High-resolution MRI (triggered by extreme behavioral changes, unexplained pain or distress, suspicion of headaches, suspicion of elevated intracranial pressure, sudden neurological or functional declines) • Evaluation for behavior-based therapy |
Seizures |  |  | • EEG (triggered by suspected seizure activity; see the seizure management section) |
ENT | • ENT examination  • Audiologic testing | • At least every 12 months:   • ENT examination   • Audiologic testing | • ENT examination and audiologic testing:   • Triggered by recurrent otitis media or suspected changes in hearing   • At least 6-monthly if identified hearing loss or otitis media with effusion • Flexible endoscopy prior to general anesthesia:   • Triggered by suspicion of airway obstruction |
Airway/respiratory | • Vital signs • Respiratory examination |  | • Sleep evaluation (triggered by sleep disturbance) • Medical workup (triggered by sleep disturbance, recurrent pneumonia, impaired secretion management) |
Surgery |  |  | • Pre-operative assessment: anesthetic review, airway assessment, cardiology review, respiratory review, hematology review, neurologic review, palliative care, and nursing review |
Ophthalmology | • Full ophthalmologic evaluation | • Every 12 months:   • Full ophthalmologic evaluation with dilation | • Full ophthalmologic evaluation (triggered by persistent unexplained pain, distress or agitation, falls) • Electroretinogram (triggered by suspicion of retinopathy) |
Dental |  | • Dental exam at least every 6 months, or every 12 months if sedation is required | • Dental exam (triggered by persistent unexplained pain, distress or agitation) |
Nutrition and gastroenterology | • Assessment of eating, drinking, and swallowing abilities • Electrolytes and liver function tests | • At least every 12 months:   • Assessment of eating, drinking, and swallowing abilities   • Electrolytes and liver function tests | • Monitor for gastroesophageal reflux (triggered by increased behavioral distress, sleep disturbance, and/or other clinical signs) • Diet assessment (triggered by weight loss or poor growth) • Abdominal imaging (triggered by persistent unexplained pain, distress or agitation) |
Cardiac | • Echocardiogram • ECG | • Every 12 months:   • ECG   • Every 24 months:   • Echocardiogram | • Echocardiogram (at least 12-monthly if abnormalities on initial or subsequent assessments) • Holter monitoring (triggered by abnormal ECG) |
Orthopedic | • Physical exam • Scoliosis series X-ray • Bilateral hip X-ray • Full spine films • Range of motion (upper and lower extremities) | • Every 6 months:   • Range of motion • Every 1–2 years from age 7 years:   • Physical exam   • X-rays (scoliosis and bilateral hip)   • Monitor trigger finger, genu valgus deformity, femoral anteversion, tibial torsion   • Use of established measurement tools to monitor trajectory of motor skills and subsequent needs | • Physical exam and X-rays (scoliosis and bilateral hip; triggered by rapid progression of orthopedic manifestations or unexplained signs of discomfort or pain) • Serum vitamin D level (in patients with impaired mobility) • Bone mineral density (in patients with prolonged functional immobility, for whom there is a concern of fracture risk) |
Pain |  | • Standardized pain assessments • Caregiver proxy assessments | • Medical workup to investigate etiology (see Table 4) |
Hematology |  |  | • Complete blood count with differential (triggered by persistent unexplained pain, distress or agitation, or unusual and/or prolonged bleeding) • Prothrombin time, partial thromboplastin time, and complete blood count prior to invasive procedures (if not done in the preceding month) |
Occupational therapy*** | • Evaluate and support fine motor skills** | • Every 6 months:   • Supportive equipment needs | • Ongoing monitoring through therapeutic sessions to adapt therapeutic strategies and supports** |
Physical therapy*** | • Evaluate and support fine motor skills** • Range of motion in upper and lower extremities | • Every 6 months:   • Range of motion in upper and lower extremities   • Supportive equipment needs | • Ongoing monitoring through therapeutic sessions to adapt therapeutic strategies and supports** |
Speech therapy*** | • Evaluate and support communication and eating/drinking/swallowing skills** | • Speech and language skills • Evaluate need for AAC devices and strategies | • Ongoing monitoring through therapeutic sessions to adapt therapeutic strategies and supports** • AAC strategies should be implemented as early as possible prior to loss of verbal speech |
Growth |  | • Growth parameters (height, weight, and head circumference) measured at routine visits and plotted on Sanfilippo syndrome-specific growth curves [122, 123] |  |
Puberty |  | • Monitor pubertal development | • Referral to pediatric endocrinology (triggered by premature pubertal development noted on exam) |
Family support | • Counseling | • Counseling • Assessment of anxiety, depression, and chronic traumatic stress • Service needs such as respite care, caregiving support, government social program and benefit referrals, and connections to disease patient advocacy groups** |  |