People with Down syndrome have a similar appearance, with a smaller head, upward slanting eyes, small mouth, and small ears. The symptoms of Down syndrome can range from mild to severe. This extra chromosome causes problems in the way the brain and body develop. Research shows that about 60% of people diagnosed with Cornelia de Lange syndrome also have a diagnosis of ASD.Īlso known as Trisomy 21, Down syndrome is a genetic condition in which a person has an extra chromosome 21. Many individuals have autistic-like behaviors such as hypersensitivity to touch, repetitive and self injurious behaviors, and difficulties in receptive language and expressive language. Severe cases of Cornelia de Lange syndrome are usually not inherited from a parent, but children who are mildly affected may have inherited it from a parent who does not know they also have the condition. People with this syndrome often have excessive body hair, low-set ears, and small teeth. One study shows that 27% of children with CHARGE could be classified as autistic.Ĭornelia de Lange syndrome is a genetic disorder that is characterized by slow growth, intellectual disabilities, and skeletal problems with the arms and hands. Children also have a secondary diagnosis of Obsessive Compulsive Disorder, Attention Deficit Hyperactivity Disorder (ADHD), or ASD. People with CHARGE have eye problems, hearing loss, and developmental delay. Children with CHARGE syndrome usually have multiple birth defects and differences in their physical appearance (for example, very unusually shaped ears). Angelman syndrome shares a common genetic basis with some forms of ASD.ĬHARGE syndrome is a genetic disorder that affects many areas of the body. Children with Angelman syndrome most likely also have a diagnosis of ASD, as many features of the two overlap. These children usually have minimal or absent speech. Children with Angelman syndrome are usually happy and excitable, with frequent laughter and hand-flapping. This syndrome is usually diagnosed in early childhood. Most children have seizures and small head size. This represents about a 20% increased risk for ASD over the general population’s risk.Ĭhildren with Angelman syndrome show delayed development, intellectual disability, and balance problems. About 20% of children with 22q deletion syndrome also have a diagnosis of ASD. Only about 10% of children with 22q11.2 deletion syndrome have a parent who is affected. It is not usually inherited from a parent rather it is most often “de novo” (a new event). A person with this syndrome may have heart disease, cleft palate, hearing loss, kidney problems, and feeding difficulties, among other things. 22q11.2 deletion syndrome has a pattern of both behavioral and physical features. During your child’s visit with a clinical geneticist, they will review any medications that you may have taken during pregnancy.Įxamples of genetic abnormalities that can be associated with ASD are listed below.Ģ2q11.2 deletion has had several different names in the past, including: DiGeorge syndrome, Velo-cardio-facial syndrome, Conotruncal Anomaly Face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome, but doctors now know that each refers to the exact same syndrome. In addition to genetic causes of ASD, exposure to certain medications during pregnancy (for example, Valproic acid) can cause ASD. Accurate diagnosis is important because there can be other health implications for the affected child, as well as differences in the risk of having another child on the autism spectrum. For this reason, the American College of Medical Genetics recommends that anyone with an ASD diagnosis receive an evaluation by a clinical geneticist. Some of these conditions are easy for a general pediatrician to recognize (for example, Down syndrome), while other conditions can be subtle and require specialized testing (for example, Smith-Lemli-Opitz syndrome). These syndromes can be due to missing or extra stretches of DNA, misspellings in genes, or biochemical abnormalities. Approximately 20% of children with ASD will have a diagnosable genetic syndrome. Autism Spectrum Disorder (ASD) and features of ASD can occur as part of some genetic conditions.
0 kommentar(er)
