Rare Diseases Symptoms Automatic Extraction

The neuropsychiatry of adrenomyeloneuropathy.

[adrenomyeloneuropathy]

While the adult form of adrenoleukodystrophy (ALD) has been associated with an elevated rate of affective disturbance, the myeloneuropathic form of the disease known as adrenomyeloneuropathy (AMN) has been associated with only occasional cases of major mental illness. Given that cerebral involvement occurs in up to half of AMN sufferers, we hypothesized that rates of mental illness may match those with adult ALD.To describe the psychiatric, cognitive, and disability variables in a sample of Australian AMN sufferers.Ten genetically confirmed AMN sufferers underwent diagnostic psychiatric interview (Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Axis I Disorders), rating scales of psychiatric disturbance (Brief Psychiatric Rating Scale, Hospital Anxiety and Depression Scale, Beck Depression and Anxiety Inventories, and Short-Form 36), and cognitive function (the Neuropsychiatry Unit Cognitive Assessment Tool and Mini-Mental State Examination).While the group as a whole was generally cognitively intact, it demonstrated a higher than expected prevalence of lifetime and current major affective illness. Current symptom levels were low at the time of study participation. Psychopathology did not relate to adrenal status, nor to level of physical or functional impairment.This small sample suggests that the level of psychiatric morbidity in AMN patients is elevated, and the rate of affective disturbance approaches those of adult ALD sufferers. This may reflect that AMN is not a "pure" myeloneuropathy, and that mild cerebral involvement may be associated with affective illness.

Diseases presenting "cognitive function" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • classical phenylketonuria
  • kabuki syndrome
  • monosomy 21

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