Rare Diseases Symptoms Automatic Extraction

Behavioural characteristics and autistic features in individuals with Cohen Syndrome.

[cohen syndrome]

Diagnostic criteria for Cohen Syndrome are based largely on physical characteristics, and systematic information about behaviour and social functioning is limited. Typically, individuals with this condition are described as being very sociable and as showing low rates of pathology. However, recent studies have indicated that behavioural difficulties may occur more frequently than previously suggested and that autistic features may be relatively common. The present investigation of 45 individuals with Cohen Syndrome (age 4-48 years) found that, although 57% of the sample were reported as showing some behavioural disturbance, problems related mainly to anxiety and social interactions; marked anti-social behaviours were rare. Twenty-two individuals met criteria for autism on standardised diagnostic assessments, although the "autistic profile" was somewhat atypical. The implications of these findings for our understanding of Cohen Syndrome are discussed.

Diseases presenting "anxiety" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • cadasil
  • child syndrome
  • classical phenylketonuria
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • junctional epidermolysis bullosa
  • locked-in syndrome
  • monosomy 21
  • oligodontia
  • oral submucous fibrosis
  • phenylketonuria
  • von hippel-lindau disease
  • x-linked adrenoleukodystrophy

This symptom has already been validated