Rare Diseases Symptoms Automatic Extraction

A case study of locked-in-syndrome: psychological and personal perspectives.

[locked-in syndrome]

Although patients with Locked-In-Syndrome (LIS) are often stated to have normal cognitive functioning, the few reports of neuropsychological assessment in these cases suggest this is not always true. This paper (a) reviews published reports of neuropsychological assessments of LIS patients, (b) presents a detailed neuropsychological assessment of a patient to determine if she has normal cognitive functioning and (c) presents the views of the patient on what has happened to her.An in-depth single case report assessing the cognitive and emotional functioning of a young woman with LIS plus a personal account from the patient. Detailed assessments were carried out using standardized neuropsychological tests and questionnaires measuring emotional functioning, pain and quality-of-life. The patient also states her views of what happened and how she feels.On most tests, cognitive functioning was average or above, but some impairments were found (consistent with published literature). No emotional problems were detected. Quality of life was satisfactory. Pain perception was normal.Although LIS patients have no severe cognitive deficits, some cognitive difficulties are common. Despite severe physical and communication problems and some mild cognitive deficits on visual reasoning tasks, this patient feels she has a reasonable quality-of-life.

Diseases presenting "pain" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • coats disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • neuralgic amyotrophy
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • trochlear dysplasia
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

This symptom has already been validated