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Table 4 Eight patients received biomedical intervention in this study

From: Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

PatientID

Sex

Age

Mutation

Phenotype

Intestinal flora test results

Gastrointestinal related symptoms (before the intervention)

Gastrointestinal related symptoms (after the intervention)

1

F

1y

(chr18: ?_52544772-58359295_?)*1

5.81 Mb deletion

Sitting unsteadily alone, no spontaneous speech, abnormal EEG

Yeast overgrowth

Constipation and food sensitivity

Little improvements

2

M

1y6m

c.990 + 1G > A

Support station, no spontaneous speech, normal EEG

Yeast overgrowth

Constipation, food sensitivity and digestive issues

Improvements in social skill and concentration

3

M

4y5m

c.1816A > G

p.T606A

Walking at 17 m, passive calling at 3 y

Yeast overgrowth

Constipation, food sensitivity and mild case of autism

Improvements in many areas including speech, social skill and digestive system

4

M

5y

(Chr18:51,552,720–54,807,345)*1

3.25 Mb deletion

Standing unaided at 2 y, walking unaided at 4 y, no spontaneous speech, abnormal EEG

Yeast overgrowth

Constipation

No constipation. Improvements in immune system and speech

5

M

3y8m

c.1109C > A

p.S370*

Walking at 2.2y, no spontaneous speech, poor cognition, salivation, and poor swallowing

Yeast overgrowth

Constipation, lower concentration and mild case of autism

No constipation. Concentration and expression in emotion and needs improved a lot, but still no speech

6

M

1y8m

c.655 + 1G > -

Support station at 1y8m, unconscious language and poor cognition. Born with Hypothyroidism

Yeast overgrowth

Constipation and a face as pale as wax

Almost no constipation. Facial appeared to be normal

7

M

1y5m

c.681G > A

Sitting at 11 months, stand at 16 months and able to call his mother consciously

Negative

Severe constipation, hyperactive and difficult concentration

Less constipation and much more calming

8

M

1y5m

c.1738C > T

p.R580W

Sitting at 16 months, poor lateral support, no spontaneous speech, epilepsy

Yeast overgrowth

Constipation, indigestion, food sensitivity

Improvement in speech, motor skills and digestive system

  1. F female, M male