Rare Diseases Symptoms Automatic Extraction

Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

[monosomy 21]

This case study describes the neurocognitive presentation of a child with identified genetic abnormalities of trisomy 6 and monosomy 21 who was evaluated as part of a standard medical protocol for cochlear implantation following diagnosis of profound sensorineural hearing loss. This child received neurocognitive testing prior to cochlear implantation and approximately 12 months post-activation of his cochlear implant. While he has not fully developed oral language, his presentation suggested improvement in overall skills since the activation of the cochlear implant; however, less than would be expected for a typically developing child.

Diseases presenting "sensorineural hearing loss" symptom

  • canavan disease
  • congenital diaphragmatic hernia
  • dentin dysplasia
  • dentinogenesis imperfecta
  • hirschsprung disease
  • holt-oram syndrome
  • monosomy 21
  • pendred syndrome
  • triple a syndrome

This symptom has already been validated