Clinical diagnostic criteria
Para los padres, cuidadores, proveedores de atención médica y profesores, a menudo surgen preocupaciones y preguntas sobre el cuidado y el bienestar de las personas con 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?
Recomendación (es)
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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