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Table 1 Presence of Published Criteria Helping Establishing the Diagnosis in Present Cohort of PTHS individuals (items occurring in > 75 % are indicated in bold)

From: Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

Feature Marangi score Score cohort (%) Whalen score
Severe intellectual disability 2 47/47 (100 %)  
Absent speech (<5words) 2 32/47 (68 %) 2
Severe speech impairmenta 1 15/15 (100 %)  
Growth at birth normal 1 29/47 (62 %)  
Overgrowth   1/47 (2 %) −1
Postnatal decrease of OFC 1 7/27 (26 %)  
OFC < −3SD   0/47 (0 %) −2
Epilepsy/EEG abnormalities 1 17/47 (36 %)  
Ataxia/motor incoordination 1 26/47 (55 %) 1
Walking >3 years/severe motor delay <3 years   44/47 (94 %) 2
Hyperbreathing/apnoea 1 19/47 (40 %) 1
Constipation 1 40/47 (85 %)  
Abnormal brain MRIb 1 3/12 (25 %)  
Eye anomalies 1c 25/47 (53 %)  
Eye anomalies   21/47 (44 %) 1d
Typical PTHS facial featurese 4 24/47 (51 %)  
Partial typical PTHS facial features 2 23/47 (49 %)  
 Deeply set eyes   23/41 (56 %) 1
 Protrusion mid/lower face   36/47 (77 %) 1
 Broad nasal bridge or convex nasal ridgef   44/45 (98 %) 1
 High nasal bridgef   30/44 (68 %) 1
 Flared nostrils   27/47 (57 %) 1
 Large mouth   37/47 (79 %) 1
 Tented vermillion of upper lipf   20/47 (43 %) 1
 Everted vermillion of lower lipf   37/46 (80 %) 1
Visceral malformations   1/47 (2 %) −1
Stereotypy head/hands   22/47 (47 %) 2
Loss of purposeful hand skills   0/47 (0 %) −1
Hypotonia   27/47 (57 %) 1
Smiling appearance   24/47 (51 %) 1
Anxiety/agitation   16/47 (34 %) 1
Check for TCF4 mutation indicated If total score ≥10 29/47 (62 %)  
  3/42 (7 %) Patients ≥3 years:
If total score ≥ 16
5/5 (100 %) Patients <3 years:
If total score 10–15
Diagnostic If total score ≥13 4/47 (9 %) -
  1. aMore than 10 words; 2–3 word sentences
  2. bSmall callosal body; wide ventricles; thin hindbrain
  3. cStrabismus, myopia, astigmatism
  4. dStrabismus
  5. eBitemporal narrowing, square forehead, deeply set eyes, hypotelorism, upslanted palpebral fissures, arched or thin eyebrows, broad nasal bridge, pointed nasal tip, flaring nostrils, short philtrum, wide mouth, tented vermillion of upper lip, thick lower vermillionf
  6. f Terminology changed to comply with international terminology “Elements of Morphology”