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Other terms used to describe regression in children with autism are autism with regression, autistic regression, setback-type autism, and acquired autistic syndrome. [16] Within the regressive autism developmental course, there are two patterns. The first pattern is when developmental losses occur in the first 15 months to 3 years.
Parents carrying the deletion often have no history of intellectual disability or autism spectrum disorder. [1] [2] [10] Prevalence of 16p11.2 deletion syndrome was initially estimated to be 3 in 10,000 in the general population, [3] [11] though more recent estimates have increased to 1 in 2,000. [2]
One of the most damaging aspects of brain trauma and other conditions, directly correlated with poor outcome, is an elevated intracranial pressure. [10] ICP is very likely to cause severe harm if it rises too high. [11] Very high intracranial pressures are usually fatal if prolonged, but children can tolerate higher pressures for longer periods ...
Idiopathic intracranial hypertension (IIH), previously known as pseudotumor cerebri and benign intracranial hypertension, is a condition characterized by increased intracranial pressure (pressure around the brain) without a detectable cause. [2] The main symptoms are headache, vision problems, ringing in the ears, and shoulder pain.
16p11.2 duplication syndrome is a genetic condition caused by duplication of region on chromosome 16. The odds of developing autism spectrum disorder are elevated and comparable to the rate with 16p11.2 deletion. The rate of having ADHD is higher than in people with deletion. [1] [2]
[5] [6] Average intelligence is in the average to low average range. [7] Speech delay is common, regardless of intellectual functioning. The most striking association between 17q12 microdeletions and neurodevelopment is the raised prevalence of autism spectrum disorder, with significant increases in both diagnosis and subclinical autistic traits.
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 .
Almost all children with ADNP syndrome have speech delay. The average age for first words has been observed to be 30 months, with a range of 7 to 72 months. [1] Some individuals studied did not develop any language skills. [1] Children with ADNP syndrome show some degree of intellectual disability. The degree can range from mild (roughly 1 in 8 ...