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Nuchal scanning alone detects 62% of all Down syndrome (sensitivity) with a false positive rate of 5.0%; the combination with blood testing gives corresponding values of 73% and 4.7%. [ 12 ] In another study values of 79.6% and 2.7% for the combined screening were then improved with the addition of second trimester ultrasound scanning to 89.7% ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
A late talker is a toddler experiencing late language emergence (LLE), [2] [3] which can also be an early or secondary sign of an autism spectrum disorder, or other neurodevelopmental disorders such as fetal alcohol spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, learning disability, social communication disorder, or specific language impairment.
Down syndrome is another example of a genetic causal factor that may result in speech and/or language impairments. Stuttering is a disorder that is hypothesized to have a strong genetic component as well. Some speech and language impairments have environmental causes.
Sensory processing disorder (SPD), formerly known as sensory integration dysfunction, is a condition in which multisensory input is not adequately processed in order to provide appropriate responses to the demands of the environment.
genetic disorders (e.g. Down syndrome) illness; environmental factors such as education (e.g. parents or teachers with similar disorders), limited exposure to language or specific speech models, or lack of opportunities for practice; Identifying the underlying cause is key to determining the appropriate intervention.
Children with DVD also typically have major literacy problems, and receptive language levels may be poor on tests of vocabulary and grammar. [17] Phonologic programming deficit syndrome – the child speaks in long but poorly intelligible utterances, producing what sounds like jargon. Outside Rapin's group, little has been written about this ...