Cognitive impairments might cause these individuals to have difficulty in comprehending language, especially spoken words. Patients with Down syndrome sometimes have facial structures and poor muscle tone which can make speech difficult. Over 18 years: continue auditory testing every two years.12 to 18 years: hearing evaluations every two years.Yearly auditory testing for children 1-3 years old and every two years for children 3-13 years old.6 to 12 months: Provide ABR of hearing if not performed previously or if previous results are suspicious.Birth to 6 months: Auditory brainstem response (ABR) test or other objective assessment of hearing.Children with Down syndrome benefit from learning and using sign language to supplement their spoken language skills. Hearing evaluations should be done periodically on young children with Down syndrome to determine if they need treatment for hearing loss before speech language intervention is started. Hearing disorders interfere greatly with language development and learning, and 60-80% of patients with Down syndrome have hearing disorders due to the small external ear canals associated with the syndrome. In order to make sure children with Down syndrome are able to effectively learn communication skills, it is important to make sure that no physical conditions are impeding the learning process. Teaching children with Down syndrome to communicate effectively is vital in helping them become independent and productive individuals. Helping patients with Down syndrome communicate Intellectual disability (mild to moderate).Gastrointestinal problems associated with intestine or esophagus blockages.Medical conditions found in older children may include: Poor muscle tone (also referred to as hypotonia).Transpalmar crease (a single crease across the palm of the hand).Epicanthal fold (fold of skin covering inner corner of eye).What medical conditions do patients with Down syndrome have?įeatures in newborns with Down syndrome may include: However, there is an additional risk based on the mother’s age. Parents of a baby with Down syndrome usually have a 1 percent chance of having another affected baby. Prenatal tests such as chorionic villus sampling or amniocentesis can help to diagnoise the trisomy with a high degree of certainty in pregnancy. The chance of having a child with Down syndrome increases as the mother gets older.Īt age 25, the probability of having a baby with Down syndrome is 1 in 1,250.Īt age 30, the probability is 1 in 1,000. If the mother is the carrier, the risk is about 12-15 percent. If the father is the carrier, the risk is about 3-5 percent. The chance of passing on the unbalanced translocation depends on the sex of the parent who carries the rearranged chromosome 21: Translocation Down syndrome is the only form of the disorder that can be passed from parents to child. In an unbalanced translocation, the child inherits the two chromosomes that are attached to each other as well as a normal chromosome. However, this chromosome arrangement can be passed down to the child resulting iin an unbalanced translocation. Since there is no gain or loss of genetic material, this chromosome arrangement has no effect on the parent's health. The parent still has two copies of chromosome 21, but one of the copies may be attached to another chromosome. In about half of all translocation cases, one of the parents is carrying the rearrangement of chromosome 21 called a balanced translocation. The resulting fetus has two normal copies of chromosome 21 in addition to a third copy attached to another chromosome. In other words, a chromosome (or part of a chromosome) gets attached to another chromosome. Patients with this type of Down syndrome have milder symptoms.ģ-4% of the cases of Down syndrome are caused by a translocation. In this case, some of the patient’s cells are normal and some contain the extra chromosome. It is also possible for a non-disjunction to happen after fertilization (about a 1-2% chance). An error in meiosis (called a non-disjunction event) causes the gamete to have an extra copy of a chromosome, and the resulting fertilized egg has a total of 47 chromosomes. During fertilizations, the gametes meet to form a fertilized egg containing the normal number of 46 chromosomes. In meiosis, a cell divides to produce gametes containing 23 chromosomes. This extra chromosome is usually acquired before fertilization in meiosis, which is the process where sperm and egg cells, or gametes, are made. Patients with Down syndrome have an extra copy of their 21 st chromosome. Normally, people have two copies of each chromosome-46 total. Ayesha Umrigar, PhD Gabrielle Sheets Meher Banajee, Ph.D., CCC-SLP Fern Tsien, Ph.D.ĭown syndrome is one of the most common genetic birth defects, occurring in 1 out of 691 births (about 6000 births) each year in the United States.
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