Neurocognitive: |
• |
Clinical examination |
• |
Monthly: 1 (4.8%) |
• |
Psychoeducational therapy |
• |
Neurocognitive decline |
• |
Neurological |
• |
Yearly: 8 (42.9%) |
• |
Cognitive behavioral therapy |
• |
Progressive development |
|
examination
|
• |
As needed: 11 (52.4%) |
• |
Speech/swallowing therapy |
|
delay |
• |
Parents/caregiver |
|
|
• |
Relaxation therapy |
• |
Decrease in DQ, |
|
and school reports |
|
|
• |
Occupational therapy |
|
attention, short-term |
|
|
|
|
• |
Physiotherapy (for fine motor skills |
|
memory, and learning |
|
|
|
|
|
balance) |
|
ability |
|
|
|
|
• |
Walking aids |
• |
ADHD |
|
|
|
|
• |
ADHD medication
|
• |
Delay in speech/language |
|
|
|
|
• |
Central stimulation medication |
• |
Delay in fine and gross |
|
|
|
|
• |
Referral for IT ERT |
|
motor function |
|
|
|
|
• |
Discussions with school concerning |
• |
Dementia |
|
|
|
|
|
need for more time and a special class (environment) |
Behavioral: |
• |
Clinical observation |
• |
Monthly: 2 (10.0%) |
• |
Parental education |
• |
Hyperactivity |
• |
Psychological |
• |
Yearly: 6 (30.0%) |
• |
Referral for psychological/behavioral |
• |
Aggressive, impulsive |
|
examination |
• |
As needed: 12 (60.0%) |
|
support |
|
disruptive behavior |
• |
Questionnaires for |
|
|
• |
Medication: antipsychotics, neuroleptics, |
• |
Emotional outbursts/ |
|
patients and |
|
|
|
and anticonvulsants
|
|
temper tantrums |
|
parents/caregiver |
|
|
|
|
• |
Lack of fear, with |
• |
Interviews with |
|
|
|
|
|
dangerous behaviors |
|
parents/caregiver |
|
|
|
|
|
exhibited by patient toward themselves and family |
|
and teachers |
|
|
|
|
• |
Autistic features |
|
|
|
|
|
|
Psychological: |
• |
Clinical observation |
• |
Monthly: 1 (5.9%) |
• |
Referral to psychologist |
• |
Anxiety |
• |
Psychological |
• |
Yearly: 4 (23.5%) |
• |
Psychotherapy (for behavior |
• |
Depression |
|
examination |
• |
As needed: 12 (70.6%) |
|
modification) |
• |
Emotional instability |
• |
Questionnaires for |
|
|
• |
Medication: anxiolytics, antidepressants, |
• |
Psychosis |
|
parents |
|
|
|
and antipsychotics
|
• |
Hyperactivity |
• |
Interviews with |
|
|
• |
Avoiding an overload of noise and other |
• |
ADHD |
|
parents/caregiver |
|
|
|
irritations or stimulants |
• |
Aggression |
|
|
|
|
• |
Snoezelen room
|
• |
Autistic behavior |
|
|
|
|
• |
Music therapy |
Increased ICP/hydrocephalus |
• |
Clinical findings (eg, |
• |
Yearly: 12 (54.6%) |
• |
VP (programmable) shunt |
|
|
|
headache) |
• |
As needed: 9 (40.9%) |
• |
Referral to neurosurgeon for advice (on |
|
|
• |
Neurological |
• |
Not known: 1 (4.6%) |
|
shunt placement) |
|
|
|
examination |
|
|
• |
A shunt is placed |
|
|
• |
Brain CT and MRI |
|
|
|
⚬ |
at confirmation of increased ICP |
|
|
|
(Evan’s index and |
|
|
|
|
(>20-25 cm H2O) during lumbar |
|
|
|
width 3rd ventricle) |
|
|
|
|
puncture, with ventricular dilatation/ |
|
|
• |
Lumbar puncture |
|
|
|
|
severe hydrocephalus (in the |
|
|
|
with (opening) CSF |
|
|
|
|
presence of symptoms such as |
|
|
|
ICP measurement |
|
|
|
|
reflexes and seizures or symptoms |
|
|
• |
Head circumference |
|
|
|
|
deterioration) |
|
|
|
(increases especially |
|
|
|
⚬ |
at recommendation by the |
|
|
|
when sutures still open) |
|
|
|
|
neurosurgeon |
|
|
• |
Eye fundoscopy (papilledema is a sign of increased ICP)
|
|
|
|
|
|
SCC |
• |
Clinical signs and |
• |
Monthly: 2 (10.5%) |
• |
Spinal (decompression) surgery to avoid |
|
|
|
symptoms |
• |
Yearly: 8 (42.1%) |
|
myelopathy |
|
|
|
(numbness, walking |
• |
As needed: 8 (42.1%) |
|
⚬ |
At clinical deterioration (muscle |
|
|
|
problems, tingling) |
• |
Not known: 1 (5.3%) |
|
|
weakness resulting in gait problems, |
|
|
• |
Physical and |
|
|
|
|
falls, tiredness, and/or focal |
|
|
|
neurological |
|
|
|
|
neurological signs) with |
|
|
|
examination |
|
|
|
⚬ |
EMG/SSEP abnormalities and |
|
|
|
([median nerve] |
|
|
|
⚬ |
Compression and cord injury visible |
|
|
|
SSEP, EMG) |
|
|
|
|
at MRI |
|
|
• |
Spine MRI |
|
|
• |
Monitoring SCI by regular clinical and |
|
|
|
(sometimes |
|
|
|
MRI follow-up |
|
|
|
tridimensional CT) |
|
|
• |
Avoiding SCI by recommending patient/ parents to avoid overweight, contact sports, other potentially dangerous activities, or specific neck movements (neck brace for fixation) |
NMD: |
• |
Clinical examination |
• |
Monthly: 1 (7.7%) |
• |
Depends on abnormality |
• |
Muscle weakness |
• |
Physical |
• |
Yearly: 6 (46.2%) |
• |
SCC: fusion and laminectomy |
• |
Gait/balance/ |
|
examination, |
• |
As needed: 6 (46.2%) |
• |
Physiotherapy |
|
coordination disturbance |
|
including ENT |
|
|
• |
Supportive aids
|
• |
Toe walking |
• |
Neurological |
|
|
• |
Gastrostomy |
• |
Myoclonus |
|
examination: EMG |
|
|
• |
Spasticity medication: baclofen, |
• |
Spasticity |
• |
MRI |
|
|
|
botulinum toxin, or clonazepam |
• • |
Ataxia Dysphagia |
• |
6MWT |
|
|
|
|
Nonspecific CNS symptoms |
• |
Clinical examination |
• |
Monthly: 1 (6.7%) |
• |
Symptomatic |
• |
Headache: MPS I |
• |
Physical |
• |
Yearly: 7 (46.7%) |
• |
Headache: paracetamol |
• |
Vision (hearing) changes |
|
examination |
• |
As needed: 7 (46.7%) |
• |
Tremors/myoclonus: clonazepam (very |
• |
Sleep disorders: MPS II |
• |
Neurological |
|
|
|
low dose) |
|
and III |
|
examination |
|
|
• |
Pain crises: pain medication |
• |
Mutism and pain crisis: |
• |
Ophthalmological |
|
|
• |
Referral to ophthalmologist; magnifying |
|
MPS II |
|
examination |
|
|
|
glasses |
• |
Autistic traits: MPS III |
• |
Audiological |
|
|
• |
Hearing aids |
• |
Tremors and myoclonus: |
|
examination |
|
|
|
|
|
MPS III |
• |
Parents reports |
|
|
|
|
Feeding/swallowing problems |
• |
Clinical |
• |
Yearly: 6 (33.3%) |
• |
Food modification: alteration of food |
|
|
|
examination, |
• |
As needed: 12 (66.7%) |
|
thickness or high-calorie diet |
|
|
|
including weight |
|
|
• |
Swallowing training |
|
|
|
(control) |
|
|
• |
Nasogastric tube feeding
|
|
|
• |
ENT |
|
|
• |
Surgery: gastrostomy for tube feeding (as |
|
|
• |
Neurological |
|
|
|
last resort) |
|
|
|
examination |
|
|
|
⚬ |
Secretions: kinesiotherapy, suction, |
|
|
• |
Pneumological |
|
|
|
|
aspiration, medication (inhaled |
|
|
|
examination |
|
|
|
|
corticosteroids, bronchodilators, |
|
|
• |
GE examination
|
|
|
|
|
antibiotics, atropine eye drops, |
|
|
• |
Endoscopy |
|
|
|
|
scopolamine, botulinum toxin, ERT), |
|
|
• |
Imaging (X-ray) |
|
|
|
|
CPAP |
|
|
• |
Patient’s report |
|
|
|
⚬ |
Aspiration pneumonias: food |
|
|
• |
Parents/caregiver |
|
|
|
|
modification, (pulmonary) |
|
|
|
reports |
|
|
|
|
physiotherapy, (aggressive) antibiotic therapy, (nasogastric or gastrostomy) tube feeding |
|
Sleep disorders |
• |
Parents/caregiver |
• |
Monthly: 2(11.1%) |
• |
Correction of sleep position |
|
|
|
history |
• |
Yearly: 10(55.6%) |
• |
Behavior modification (eating and |
|
|
• |
Sleep studies (PSG/ |
• |
As needed: 6 (33.3%) |
|
sleeping patterns) |
|
|
|
EEG/EMG) |
|
|
• |
Improvement of respiratory function |
|
|
• |
RFT studies |
|
|
• |
Medication: melatonin (high doses), antihistamines, tryptophan, ERT |
|
|
|
|
|
|
• |
Ventilation by CPAP/BiPAP (initiated by sleep specialist) |
|
|
|
|
|
|
• |
ENT surgery (adenoids and/or tonsils) |
Seizures/epilepsy |
• |
Clinical examination |
• |
Monthly: 1 (6.3%) |
• |
Diet |
• |
Mostly: generalized |
• |
Neurological |
• |
Yearly: 4 (25.0%) |
• |
AEDs (in consultation with or prescribed |
|
tonic-clonic |
|
examination |
• |
As needed: 11 (68.8%) |
|
by neurologist); first seizure usually not |
• |
Sometimes: partial |
• |
Caregiver history |
|
|
|
treated |
|
(simple or complex) |
• |
(video) EEG |
|
|
• |
Status epilepticus (with support from |
|
|
• |
(CT/MRI) |
|
|
|
neuro/epilepsy team): |
|
|
|
|
|
|
|
⚬ |
Anticonvulsants |
|
|
|
|
|
|
|
⚬ |
Benzodiazepines (to be taken with |
|
|
|
|
|
|
|
|
care): midazolam, diazepam, or lorazepam, or IV levetiracetam or topiramate |
|
|
|
|
|
|
|
⚬ |
Phenobarbital |
|
|
|
|
|
|
|
⚬ |
Intubation and anesthetic drugs at |
|
|
|
|
|
|
|
|
the ICU (if not stopped) |