Generic Health Care Information
Generisk sundhedsinformation om Pitt-Hopkins syndrome (pths) til fagfolk
(er måske ikke til stede hos hver person med Pitt-Hopkins syndrome)Main medical problems in pths
- Tarditas developmentis - Intellectual disability, Developmental delay
- Dysphasia - Language-speech development disorder
- Gastroesophageal reflux - Stomach acid reflux from stomach to oesophagus
- Obstipation / Constipation - Blockage
- Ptosis - Drooping eyelid
- Motores Aetatis Tardae - Delayed gross motor development
- Infantile axial hypotonia, Gait ataxia - Abnormally low muscle tone, poor muscle control that causes difficulty with walking and balance
- Autism Spectrum Disorder (ASD) - Anxiety, agitation, repetitive behaviors, self-injurious behaviour, autism-like
- Apnea - Temporary cessation or pause in breathing
- Aerophagia - Excessive and repetitive air swallowing
- Reactio anormalis ad dolorem - Different way of reacting to pain
- Pes Planus - flexible flat foot
Acute life-threatening complications in pths
- Volvulus - Bowel obstruction by intestine twists
- Pneumonia per Aspirationem - Aspiration pneumonia
- Morbus epilepticus - Epileptic Seizures
- Apnea - Temporary cessation or pause in breathing
Less frequent medical problems in pths
- Morbus epilepticus - Epileptic Seizures
- Scoliosis - Abnormal sideways curvature of the spine
- Malrotatio intestinalis - Intestinal malrotation
- Stenosis pylori - thickening of the muscle between the stomach and the intestines
- Cryptorchidism - Undescended testicles
- Circulatio distalis diminuta - Decreased Distal circulation
- Dysregulatio thermoregulationis - Instability of temperature regulation
- Disturbia somni - Slaap problemen
