Informazioni

Generic Health Care Information



Informazioni generiche sullassistenza sanitaria relative a {0} ({1}) per i professionisti

(potrebbe non essere presente per ogni persona con 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

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