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Seasonal affective disorder (SAD) is a mood disorder subset in which people who typically have normal mental health throughout most of the year exhibit depressive symptoms at the same time each year. [ 1 ] [ 2 ] It is commonly, but not always, associated with the reductions or increases in total daily sunlight hours that occur during the winter ...
Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine ...
Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive [2] lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease (also referred to as Finnish-type sialuria , OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern ...
There are various different versions of the K-SADS, each varying slightly in terms of disorders and specific symptoms covered, as well as the scale range used. All of the variations are still semi-structured interviews, giving the interviewer more flexibility about how to phrase and probe items, while still covering a consistent set of disorders.
Characteristic symptoms are increased muscle tone (dystonia, such as clubfoot) and Parkinsonian features, typically absent in the morning or after rest but worsening during the day and with exertion. Children with dopamine-responsive dystonia are often misdiagnosed as having cerebral palsy .
A new study finds that 9 out of 10 adults in the U.S. may have cardiovascular-kidney-metabolic (CKM) syndrome. The research found 90% of adults qualify for stage 1 or higher of this condition.
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder .
The average lifespan after the onset of symptoms in patients with MSA is 6–10 years. [4] Approximately 60% of patients require a wheelchair within five years of onset of the motor symptoms, and few patients survive beyond 12 years. [4] The disease progresses without remission at a variable rate.