Full List of Recommendations

Clinical diagnostic criteria

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

A set of criteria to indicate the severity of PTHS should be developed in collaboration with families.  A++

Molecular Diagnostic Criteria

R3 TCF4 variants can cause PTHS but can also cause other intellectual disability associated phenotypes which should not be labeled PTHS.
A+++

R4 Empirically, after the birth of an individual with molecularly confirmed PTHS, a recurrence risk of 2% should be given.
A++

R5 Interpretation of variants in TCF4 require consideration of the phenotype of the tested individual, pattern of inheritance of the phenotype and the variant, earlier experience with the variant, and nature and localization of the variant, using ACMG criteria.
A+++

Prenatal Diagnosis

R6 Prenatal testing should be offered to families in which the diagnosis of PTHS in the index patient is molecularly confirmed.
A+++

R7 Prenatal testing for PTHS outside of a known familial genetic alteration remains challenging due to the current difficulty in interpreting reliably all variants that will be obtained. Use of this type of testing as a screening method is not recommended at the present time.
A+++

General health

R8

The commonly occurring marked and chronic constipation in indi-viduals with PTHS should be monitored and evaluated through a diary ordedicated questionnaires. A+++

This list will be completed soon
  General health