|
Short stature
| GH therapy may be considered. | No standard dose has been established. No apparent correlation between dosage used & final height, though earlier age at initiation of GH therapy is assoc w/↑ final adult height. Short stature due to NS is an FDA-approved indication for GH treatment. No evidence supports ↑ prevalence of neoplasm, cardiac, or other comorbidities in those treated w/GH. 1
|
Feeding
difficulties
| Consideration of nasogastric tube feedings in infants w/poor growth, esp if they have a congenital heart defect or cardiomyopathy | Invasive intervention (i.e., placement of gastrostomy tube) may be needed, though feeding issues are often self-limited. |
|
DD/ID
| See Developmental Delay / Intellectual Disability Management Issues. | |
Psychiatric/
Behavioral
| Standard treatment for ADHD & any neuropsychiatric features &/or behavioral problems | Referral to a neurodevelopmental specialist or psychiatrist, depending on age, may be considered. |
|
Congenital heart defects
| Standard treatment per cardiologist | Pulmonary valve stenosis treated w/percutaneous balloon pulmonary valvuloplasty has a higher reintervention rate vs pulmonary valve stenosis w/o NS but is still considered 1st-line treatment. 2 |
|
HCM
| Standard treatment per cardiologist | HCM is assoc w/substantial early mortality; infants presenting before age 6 mos in congestive heart failure have worst prognosis (2-yr survival of 30%). 3 |
|
Cryptorchidism
| Standard treatment per urologist | |
Renal anomalies /
Hydronephrosis
| Standard treatment per urologist &/or nephrologist | |
Bleeding
diathesis
| Standard treatment per hematologist | Specific treatment for serious bleeding may be guided by knowledge of a factor deficiency or platelet aggregation anomaly. Factor VIIa has also been used in an infant w/NS who had normal platelet count & prothrombin & partial thromboplastin times to control severe postoperative blood loss due to gastritis. 4
|
Abnormal
vision &/or
strabismus
| Standard treatment(s) as recommended by ophthalmologist | Community vision services through early intervention or school district |
|
Hearing
| Hearing aids may be helpful; as per otolaryngologist. | Community hearing services through early intervention or school district |
Chiari
malformation
| Standard treatment per neurosurgeon | |
Juvenile
myelomonocytic
leukemia & other
malignancies
| Standard treatment per oncologist | |
Family/
Community
| Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
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