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Table 3 Key evaluations for the monitoring of Sanfilippo syndrome at diagnosis and throughout the disease course*

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**

 
  1.  * Clinical judgment may be used to determine if deviation from the above schedule is appropriate based on the patient’s clinical history, extent of organ manifestations, variability of disease phenotype, and in collaboration with the family as to the potential burden of assessments
  2. **Indicates areas where the steering committee of clinical experts have added to the content derived from consensus guideline statements
  3. ***Rehabilitative therapy evaluation tools may be chosen by the local clinician based on availability and which instrument is best suited for the individual patient
  4. AAC, augmentative and alternative communication; EEG, electroencephalography; ENT, ear nose, and throat; MRI, magnetic resonance imaging