TABLE 2 Clinical diagnostic criteria for Pitt Hopkins Syndrome
TABLE 2 Clinical diagnostic criteria for PTHS
Cardinal (most important)
- Face (at least three of seven)
- Narrow forehead
- Thin lateral eyebrows (eyebrows are thin at the sides of the face)
- Wide nasal bridge/ridge/tip (wide part of the nose between the eyes) /ridge (long bony part of the nose) /tip of the nose)
- Flared nasal alae (wide nostrils)
- Full cheeks/ prominent midface (mouth, cheeks and nose bigger than usual)
- Wide mouth/full lips/cupid bow upper lip (curve in the middle of the upper lip)
- Thickened/overfolded helix (rim of the ear)
4 points
- Severe intellectual disability (lots of trouble thinking) and can hardly speak or not at all (less than 5 words)
2 points
- Problems with breathing (sometimes breathing too quickly and superficially (hyperventilation) and/or having breathing stops (apnea))
2 points
Supportive (increases likelihood in combination with most important characteristics)
- Myopia (problems seeing things far away)
- Constipation (problems with pooping)
- Hand (slender fingers and/or abnormal crease in the palm of the hand)
- Unstable gait (unstable walking)
each 1 point
Clinical diagnosis of Pitt-Hopkins syndrome (A person definitely has Pitt Hopkins based on how they look and behave).
Score ≥ 9. Molecular confirmation indicated.
Possible clinical diagnosis of Pitt-Hopkins syndrome (A person may have Pitt Hopkins based on how they look and behave).
Presence of facial characteristics + additional criteria, either cardinal or supportive, totaling a score of 6-8. A person who gets this score, should have a DNA test for changes of the TCF4 gene.
Insufficient clues for the presence of Pitt-Hopkins syndrome.
Score < 6. No further studies specifically for PTHS indicated. In this case, it is necessary to look for other causes of problems.
