Clinical diagnostic criteria
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Pitt-Hopkins syndrome.
On the basis of which characteristics of the face and elsewhere on the body, in the course of the syndrome, and in behavior, can the diagnosis PTHS be made?
Recommendation(s)
Clinical diagnostic criteria
R1
- R1
- The clinical diagnosis of PTHS is based on a combination of signs and symptoms (Table 2): the clinical diagnosis can be confirmed if a score of 9 or higher is reached, and a score of 6 to 8 including the presence of the facial characteristics indicates a suspicion for PTHS and needs further confirmation by molecular testing. A++
R2
- R2
- A set of criteria to indicate the severity of PTHS should be developed in collaboration with families. A++
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