Lastly, we assessed the awareness among parents attending our DS follow up clinic regarding the possibility of an ASD diagnosis in DS children. We traced the karyotype results of our study population from their medical record and compared this to study participant with a dual diagnosis of Down Syndrome- Autism Spectrum Disorder (DS-ASD). The main objective of this study was to determine the prevalence of Autism Spectrum Disorder (ASD) in Down Syndrome (DS) children attending the DS clinic at Child Development Centre Universiti Kebangsaan Malaysia Medical Centre (CDC-UKMMC) and to assess the appropriateness of using an M-CHAT as an ASD screener in this population. The resultant euploid cells would either have biparental disomy (yellow cells) or uniparental disomy (blue cells). (ii) During embryogenesis, a second, mitotic (somatic) chromosome malsegregation event occurs due to anaphase lagging (sometimes referred to as “trisomy rescue”), with the laggard chromosome potentially being excluded into a micronucleus and/or otherwise eliminated from the cell. The cells having two copies of chromosome 21 could include either one homolog from each parent (biparental disomy middle yellow cell), or two homologs from the same parent (uniparental disomy lower blue cell). (i) During embryogenesis, a second, mitotic (somatic) nondisjunction event occurs to give rise to cells having two chromosomes 21 or four chromosomes 21, with the latter cells failing to successfully proliferate (selection to remove this cell line). If the nondisjunctional event occurred in meiosis I, there would be three different homologs present in the trisomic cells (indicated by black, white, and hatched patterns on three distinct homologs). (b) A zygote with three copies of chromosome 21 is formed following the merging of a normal gamete and an aneuploidy gamete (meiotic error). ![]() This mechanism would result in the presence of two identical copies of one homolog in the trisomic cells. It is thought that the cell with one copy of chromosome 21 would not successfully proliferative (selection to remove this cell line), while the cell with three copies of chromosome 21 would continue to proliferate and give rise to a mosaic zygote containing trisomy 21 cells (green) and normal cells (yellow). (a) Following fertilization, a euploid (normal) zygote with 46 chromosomes undergoes a mitotic nondisjunctional event, resulting in a cell with three copies of chromosome 21 (green cell) and a cell with a single copy of chromosome 21 (purple cell). For many children with Down’s syndrome their therapy program will incorporate working on a range of different targets at the same time.Ĭhildren who are identified as having Down’s Syndrome are likely to be referred to the Children’s community Physiotherapy Service within the first few weeks of life and will be seen within 12 weeks from the referral to provide advice about how to carry and lift your child in ways which help them to develop their gross motor skills.Cell division and chromosomal malsegregation events leading to trisomy 21 mosaicism. Each child may need different kinds of help and the help they need may change as they get older. ![]() For example, some children have significant health problems such as serious heart defects while others have few medical needs. Supporting children with Down’s Syndromeĭepending on your child’s needs, the Children’s Integrated Therapies Service may support them to develop a range of skills such as using speech sounds or their understanding of language.Īs each child with Down’s syndrome is unique, treatment will depend on their individual needs. Other children may only have some cells that have an extra copy of chromosome 21 (Mosaic Down’s Syndrome) or have part of chromosome 21 attached to one of their other chromosomes (Translocation Down’s Syndrome). People with Down Syndrome have an extra part or full copy of chromosome 21.įor most people with Down’s Syndrome, they have three copies of chromosome 21 in all of their cells across their body. One chromosome in each pair comes from your father, the other from your mother. Human cells normally contain 23 pairs of chromosomes. It’s caused by a mistake in cell division during early development of the foetus. Most of the time, Down’s syndrome isn’t inherited. There are no known behavioural or environmental factors that cause Down’s syndrome. This can affect their long- and short-term memory as well as their speech & language development. How does it affect children?Ĭhildren and young people with Down’s syndrome usually have mild to moderate learning difficulties. ![]() It is the most common genetic chromosomal disorder and cause of learning difficulties in children. Down’s syndrome is a genetic disorder where someone is born with an extra full or partial copy of chromosome 21.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |