Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.

[cohen syndrome]

Although the physical characteristics of Cohen syndrome have been studied in considerable detail , data on other aspects of development are relatively limited . We report findings on cognitive , linguistic , and adaptive profiles in a group of 45 individuals clinically diagnosed with Cohen syndrome when aged between 4 and 49 years . The profile of skills observed was consistent with other recent findings . Thus , independence levels generally were poor , but socialization skills as assessed by the Vineland were relatively less impaired . This particular area of strength probably underlies the 'sociable ' temperament typically associated with Cohen syndrome . However , the range of cognitive ability was wider than reported in most previous research , raising the issue of whether mental retardation should be considered as a necessary component of the phenotype . The implications for genetic testing are discussed .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated