2q33 1 deletions and other deletions between 2q31 and 2q33

2q33 1 Deletions And Other Deletions Between 2q31 And 2q33-PDF Download

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Each chromosome has a short arm at the top in the diagram below called p from petit the French word for small and a long arm called q at the bottom In a 2q deletion material has been lost from the long arm of one of the two chromosome 2s Looking at 2q31 to 2q33 You cannot see chromosomes with the naked eye but if you

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Deletions between 2q31 and 2q33, A chromosome deletion means that a part of one of the body s chromosomes has been. lost or deleted If the missing chromosome material contains important genes. developmental delay some learning difficulties and health problems may occur How. important these problems are depends mostly on how much of the chromosome has. been lost and where the deletion is,Genes and chromosomes. Our bodies are made up of billions of cells Most of the cells contain a complete set of. 20 25 000 genes Genes act like a set of instructions controlling our growth and. development and how our bodies work, Genes are carried on microscopically small thread like structures called chromosomes. There are usually 46 chromosomes 23 inherited from our mother and 23 inherited. from our father so we have two sets of 23 chromosomes in pairs. Apart from two sex chromosomes two Xs for a girl and an X and a Y for a boy the. chromosomes are numbered 1 to 22 generally from largest to smallest Chromosome. 2 is almost the largest chromosome and contains nearly 1400 known genes. Each chromosome has a short arm at the top in the diagram below called p from. petit the French word for small and a long arm called q at the bottom In a 2q. deletion material has been lost from the long arm of one of the two chromosome 2s. Looking at 2q31 to 2q33, You cannot see chromosomes with the naked eye but if you. stain them and enlarge their image many hundreds of times. Short p using a high powered microscope you can see that each one. arm has a pattern of light and dark bands, In the diagram on the left you can see the bands are numbered.
outwards from the point where the long arm meets the short. arm the centromere The three 2q31 3 bands are part way. down the long arm and as you can see each band is subdivided. Centromere into three more bands making nine bands in all. In a 2q31 3 deletion the chromosome has usually broken in. two places and the sticky broken ends have rejoined leaving. out the chromosome material between them You will, sometimes see this type of deletion called interstitial. The missing piece of chromosome can be tiny or much larger. Long q If it is large enough to be visible when magnified under a. arm microscope it is called a deletion Sometimes it is so tiny that. it can only be identified using new technology with tests such. as FISH or array CGH It is then called a microdeletion. Smaller deletions generally remove fewer genes and newer. techniques can usually show whether particular genes or parts. of genes are present or not These techniques are more. precise than a traditional chromosome analysis,Families say What is special about my child. The most special thing she does is when we are quiet and alone. She can solicit my attention through grabbing my finger or calling. out for me from her bedroom with a grunt I will either snuggle. her in bed or hold her in my lap in my bedroom window and just. quietly melt with her It is then that we are most at peace most in. tune All too frequently throughout our day her disability is raw. and in conflict with daily life It is in these times of natural quiet. peace that we are a typical mother loving her child. Very sweet almost always happy and smiling Has a great sense. of humor 7 years old,He has made me very humble, He is a sweet boy who usually does his best to help accommodate you He loves his. baby brother and sister more than we realise He is great with computers Because he. is non verbal he can feel when you are sad or tired or just in pain and he comforts. acts very mature and tries to make you feel better. She often makes us laugh has a beautiful personality can be. cheeky and is great company Mostly she has caused me to grow. in patience and understanding which has lead me into a career. in counseling disability and behavioural management. Families say I wish I d known, She has pushed my patience to a level I thought was never. possible and frequently beyond Her deletion has caused me. to completely redefine my role in this world to a position of. advocate inquirer in an area where I never expected to have. expertise Her disability has caused me to view every wrong. error or inaccuracy with a far more forgiving filter I have 14 years old. changed the lens on my life to see hopefully what is more. important and yet I also feel I have more to learn to keep patient for the long haul. We have learned to honor who the child is as a person and to treat with a. reasonable therapy load but be realistic We were led to believe that if we tried or. followed every therapy out there it would somehow make her. better No Now as she is 6 years of age I am coming to terms. with the reality of her potential willing to cut off some therapy. in exchange for getting some of our lives back financially. investing in my other children s futures I would also have loved. for someone to tell me that she would be non verbal That. would have saved a lot of speech therapy time, It is a heck of a time to go through the day and help your.
kiddo especially when you have other kids It breaks my heart. that he is different and my other two kids are normal It breaks. my heart that I may never hear him say mom or dad or. I love you,19 years old, It breaks my heart that I cannot help him more But at the end of the day he is my. sweetest kid my first child always special in my heart He may not talk or do normal. stuff that other kids do at the same age but he makes you feel a whole lot better with. just a smile I cannot say I wouldn t change a thing I would if I could but he is healthy. he can walk and eat by himself and he is making progress That s all that counts. I really was blind to any type of disability Perhaps emotional support for the parents. when given diagnosis accompanied with information would be great Sibling support at. diagnosis to help their understanding as well would have helped. Enjoy and celebrate small positive changes Embrace challenges Consistency. The genetic test, Your genetic specialist can tell you more about what chromosome material has been. lost If the genetic test used traditional chromosome analysis the report will show the. bands in chromosome 2 where the breaks have occurred This is an example of a. report known as a karyotype,46 XX del 2 q31 3q33 1. This karyotype shows that chromosome 2 broke in bands 2q31 3 and 2q33 1 and that. the genes and other chromosome material between the breaks is missing. Here is an example of an array CGH report,arr cgh 2q33 1 195 489 638 202 632 106 x1. This report shows that two breaks occurred in the same. band 2q33 1 The long numbers show the base pairs that. are known to be missing x1 instead of x2 as normally. expected Each base pair represents the ends of one rung. of the DNA ladder Take the first long number from the. second to find out how many base pairs are missing in this. case 7 142 468 Since base pair numbers are very long they. are often shortened like this 1 base pair bp 1000 base. pairs 1kb 1 000 000 base pairs 1Mb, A single band in a chromosome can contain many of the.
genes that direct development and each gene can contain. many thousands of base pairs The break in the, chromosome can occur within a gene Depending on the. technology used your geneticist can tell you which genes. or parts of genes are missing,New and emerging syndromes. There are a number of new and emerging syndromes caused by deletions close to. bands 2q31 to 2q33 In many cases the features of one syndrome overlap with another. syndrome They include, 2q24 3 deletions Unique publishes a separate guide to 2q24 3 deletions. 2q31 1 microdeletion syndrome see pages 5 7,2q31 2q32 3 microdeletions see pages 7 9. 2q33 1 deletion syndrome also referred to as 2q32 2q33 microdeletion syndrome. see pages 9 27,2q31 1 microdeletion syndrome, It has been suggested that when part of the 2q31 1 band between around 173 2Mb and.
178Mb is deleted a clinically recognisable syndrome is seen One obvious feature of. this syndrome is abnormalities of the hands and feet which can be very minor or much. more obvious People with this deletion may also look facially like each other. 169 7Mb Genes,2q31 1 band Approximate,microdeletion. syndrome HOXD,Sources and references, Four scientific articles have focused on the 2q31 1 microdeletion syndrome Boyan. Dimitrov and his colleagues examined five children and concluded that losing part of. the 2q31 1 band between around 173 4Mb and around 175 8Mb causes the typical. look and that losing the next part of the 2q31 1 band between around 175 6Mb and. 178Mb causes the hand and foot abnormalities L P Tsai and colleagues found hand and. foot anomalies in three generations of one family who had lost part of the 2q31 1 q31 2. bands between around 175 4 178 8Mb They only found developmental delay and. learning difficulties in the youngest generation the parents and grandparents had. normal intelligence and social functioning Diana Mitter and her colleagues examined. eight patients with overlapping deletions in 2q31 1 The only deleted gene shared by all. eight patients was WIPF1 situated at 175 4 175 5Mb but Dr Mitter pointed out that. this deleted gene does not explain patients symptoms Instead she suggested that. individuals differ from each other because each has a different deletion extent DRH de. Bruijn investigated a very severely affected 19 year old girl who had lost part of the. 2q31 1 band between 172Mb and 174 6Mb She also had an apparently unrelated. balanced translocation and de Bruijn suggested that this translocation may have. unexpectedly intensified the impact of the 2q31 1 deletion Unique has one member. with a pure 2q31 deletion without involvement of other chromosomes Tsai 2009 de. Bruijn 2010 Mitter 2010 Dimitrov 2011 Unique, Most likely features of 2q31 1 microdeletion syndrome. Most but not all children experience developmental delay The degree of delay is. individual and can be mild moderate or significant. Unusual feet and or hands,An unusually small head microcephaly. Short stature and feeding problems,Low muscle tone hypotonia.
Possibly a typical facial appearance,Less likely features. Heart problems such as holes between the upper or lower chambers atrial. ventricular septal defects, Eye problems most commonly strabismus squint and a drooping upper eyelid. Structural anomalies of the brain such as enlarged ventricles fluid filled spaces. Problems of the urinary or genital systems,Cleft palate and or lip. Spinal curvature scoliosis,Unusual formation of bones in the spine. Unusual feet and or hands, The unusual features may be scarcely noticeable or much more obvious Foot features.
seen so far include a long big toe short toes with only one joint underdeveloped nails. webbed toes especially toes 2 3 a sixth toe short bones in the feet bones that are. fused together and a large gap between the big toe and the second toe Hand features. seen so far include clenched hands bent fingers short bones in the hands short middle. joints in the fingers incurved little fingers webbed fingers tapered fingers a sixth. finger short fingers and split hand with a single finger. A typical facial appearance, A child with any chromosome disorder often resembles the rest of their family. But they may also resemble other children with their particular syndrome In a 2q31 1. microdeletion some typical features are a narrow forehead broad eyebrows that flare. at the sides a small nose with a bulbous tip narrow eyes that slant downwards a thin. upper lip and thicker lower lip ears set low on the sides of the head and a small lower. jaw and chin Around half of people with the syndrome have an unusually small head. Genes that may be involved, There is a cluster of genes called HOXD in 2q31 1 that play a key role in the formation. of the arms and legs in embryonic life and are believed to lie at the root of the more. obviously unusual feet and hands seen in people with a 2q31 1 microdeletion Some of. the chromosome material on either side of this cluster of HOXD genes is thought to. regulate these genes and so losing this chromosome material can also cause the foot or. hand features It is possible that two genes known as DLX1 and DLX2 may also be. involved in hand and foot formation but this is less certain It has also been suggested. that the HOXD gene cluster underlies the genital anomalies seen in some people with. the deletion Svensson 2007 Tsai 2009 Mitter 2010 Dimitrov 2011. Scientific articles, Svensson 2007 Detection of a de novo Interstitial 2q Microdeletion by CGH Microarray Analysis. in a Patient With Limb Malformations Microcephaly and Mental Retardation American Journal of. Medical Genetics Part A Volume 143A pages 1348 1353. Tsai 2009 A novel microdeletion at chromosome 2q31 1 31 2 in a three generation family. presenting duplication of great toes with clinodactyly Clinical Genetics Volume 75 pages 449 456. De Bruijn 2010 Severe Progressive Autism Associated with Two de novo Changes A 2 6 Mb. 2q31 1 Deletion and a Balanced t 14 21 q21 1 p11 2 Translocation with Long Range Epigenetic. Silencing of LRFN5 Expression Molecular Syndromology Volume 1 pages 46 57. Mitter 2010 Genotype phenotype correlation in eight new patients with a deletion encompassing. 2q31 1 American Journal of Medical Genetics Part A Volume 152A pages 1213 24. Dimitrov 2011 2q31 1 microdeletion syndrome redefining the associated clinical phenotype. Journal of Medical Genetics Volume 48 pages 98 104. 2q31 2q32 3 microdeletions, It s been suggested that when there is a deletion between around 181Mb and 185 6Mb. in bands 2q31 2q32 3 a distinct syndrome can be recognised So far two adults and a. teenager have been described in the medical literature Unique does not yet have any. members with a diagnosis of this syndrome confirmed by microarray or FISH. technology,178Mb Genes,181Mb Approximate ITGA4,region of NEUROD1.
2q31 2q32 3 PDE1A,microdeletion ZNF804A,185 6Mb syndrome. 2q31 2 to 2q32 3,bands MSTN,Sources and references. Three scientific articles have focused on 2q31 2q32 3 microdeletions Alessandro. Cocchella and his colleagues described a woman of 28 years with a 4 4Mb deletion. between 181 3 and 185 6Mb and learning difficulties no speech and an unusual facial. appearance Paolo Prontera and his colleagues found a 13 7Mb deletion between 177. and 191Mb in a 36 year old man with significant learning disability some behaviour. difficulties an unusual facial appearance muscular build and anomalies of his hands and. feet They concluded that the man s unusual development could be explained by the. chromosome 2 deletion Maria Mencarelli and her colleagues found a 13Mb deletion. between 180 and 192 Mb in a 14 year old boy with significant learning difficulties no. speech sleep disturbance some difficult behaviour and an unusual facial appearance. Mencarelli 2007 Prontera 2009 Cocchella 2010, Most likely features of 2q31 2q32 3 microdeletions. Need for significant support with learning,Severe speech impairment most likely no speech. Behaviour difficulties which may improve with age,Large head.
Specific facial features including a long face small chin and receding jaw tilted ears. Other likely features,Premature birth,Short stature. Muscular build, Epilepsy and or abnormal findings on EEG After 18 years one adult had no. further seizures,High and narrow palate, Split uvula or tip of the nose The uvula is the extension of the soft palate roof of. the mouth that hangs down above the back of the tongue. Spinal curvature, Inguinal hernia This shows as a bulge in the area where the lower abdomen meets. the upper thigh the groin It is caused when an opening in the lower part of the wall. of the abdomen that is open during fetal life but closes before birth fails to close. The remaining opening may be small only allowing fluid through or it may be large. enough for something such as a loop of the intestine or another organ to get stuck in it. An inguinal hernia should always be assessed by a doctor and may need surgery. Minor anomalies of the hands and feet including tapering fingers bow legs a wide. gap between the big toe and the second toe,Genes that may be involved.
The NEUROD1 ZNF804A PDE1A and ITGA4 genes have been suggested as underlying. the learning and behaviour difficulties as well as the speech delay Cocchella 2010. ITGA4 is a candidate gene for behaviour disturbances and speech disorder Cocchella. NEUROD1 has been shown to be involved in the development of the cortex of the. brain But people who have lost this gene may still have structurally normal brains. Cocchella 2010, ZNF804A is a candidate gene for learning difficulties and behaviour disturbances. Cocchella 2010, COL3A1 and COL5A2 code for collagen and may underlie the inguinal hernias seen quite. often When COL3A1 is deleted there may be a raised risk of swelling in the walls of. the arteries and possible rupture vascular aneurysm Any high blood pressure should. be treated promptly and effectively other risk factors avoided and any relevant head. chest or abdominal pain appropriately investigated Prontera 2009. MSTN is a gene which controls muscle growth When it s disrupted muscles may be. bulkier so the suggestion is that people in whom the MSTN gene is missing may have a. more muscular build Prontera 2009,Scientific articles. Mencarelli 2007 Clinical and Molecular Characterization of a Patient With a 2q31 2 32 3. Deletion Identified by Array CGH American Journal of Medical Genetics Volume 143A pages 858 65. Prontera 2009 2q31 232 3 Deletion Syndrome Report of an Adult Patient American Journal of. Medical Genetics Part A Volume 149A pages 706 712, Cocchella 2010 The Refinement of the Critical Region for the 2q31 2q32 3 Deletion Syndrome. Indicates Candidate Genes for Mental Retardation and Speech Impairment American Journal of. Medical Genetics Part B Volume 153B pages 1342 1346. 2q33 1 deletion syndrome, Researchers have recently identified a new microdeletion syndrome among people with.
genes missing from bands 2q32 to 2q33 The emerging new syndrome is variously called. the 2q33 1 deletion syndrome the 2q32 2q33 deletion syndrome and. 2q33 microdeletion syndrome van Buggenhout 2005 Balasubramanian 2011. Sources and scientific articles, The first named author and publication date are given to allow you to look for the. abstracts or original articles on the internet in PubMed If you wish you can obtain. articles from Unique The following references contain single or series of case reports. of individuals with a deletion involving 2q32 Brewer 1999 van Buggenhout 2005 de. Ravel 2009 Rifai 2009 Rosenfeld 2009 Tegay 2009 Urquhart 2009 Balasubramanian. 2011 References to Unique are marked Unique,How many people have a 2q33 1 deletion. Although larger deletions have been reported for more than a quarter of a century the. technology for detecting microdeletions has not been widely available for long so it s. not yet known how common 2q33 1 deletions are So far 20 people with the 2q33 1. deletion syndrome have been reported in the medical literature but there are likely to. be thousands more who remain undiagnosed When this guide was written Unique had. 13 members with this deletion aged between two and 20 years. Does everybody with a 2q33 1 deletion have exactly the same amount of. missing genetic material, No Some people have a deletion that is hundreds of times smaller than other people. Reported deletion sizes in the medical literature range from 35kb to 10 4Mb Among. Unique members deletion sizes range from 3 59Mb to 8 35Mb Some people have only. lost part of one gene Others have lost many genes, Are there people with a 2q33 1 deletion who have developed normally and. have no speech behaviour learning or health difficulties. So far everyone who has come to the notice of doctors and been reported in the. medical literature or who has joined Unique has some developmental delay The degree. of delay varies and some people have no behaviour or health problems. Is there a 2q33 1 deletion syndrome,A 2q33 1 deletion syndrome is.
emerging although numbers of,people with the deletion remain. quite small so much more is to,be learned,Individuals will differ from each. other in some ways partly because,of the extent and position of. their deletion,Most likely features of 2q33 1 deletion syndrome. Developmental delay, Significant speech delay with no speech in most cases.
A degree of learning difficulty or disability usually severe. Slow growth before and after birth, Severe persisting feeding difficulties often requiring nasogastric tube feeding and. failure to thrive,Recognisable facial similarities. High or cleft split palate roof of mouth or bifid uvula. Crowded teeth with abnormally shaped teeth and some missing teeth. Typical behaviour pattern this includes hyperactivity chaotic behaviour and a happy. personality with bouts of anxiety or aggression,van Buggenhout 2005 Balasubramanian 2011. Possible other features,Genital anomalies in boys, Lipodystrophy like phenotype around puberty In lipodystrophy the distribution of. fat in the body changes with increases in areas such as the chest abdomen and neck. and loss of fat under the skin from other parts of the body such as the face arms. buttocks and thighs, Reminiscent of a condition known as Wrinkly Skin Syndrome with thin sparse hair.
Small head microcephaly,First signs, Among Unique members the first sign that there was something amiss with their child. was a cleft palate detected at birth in two myelomeningocele a type of spina bifida in. which the backbone and spinal canal do not close before birth detected antenatally in. one a neonatal seizure in one a cluster of unusual findings small genitals hernia small. mouth in one and delayed development by 18 months in one. She wouldn t smile at us by one month old she avoided human faces as an infant she. had no innate desire to eat let alone thrive,Development. All babies and children,known to Unique have shown. some developmental delay,and in some cases this in. addition to a birth anomaly,such as a cleft palate led to.
a genetic test The degree of,delay is quite variable. ranging from mild to more, severe one child a triplet The triplet in the middle has a 2q33 1q33 2 deletion. achieves 50 of her triplet siblings developmental level It is better to let your child. show his or her own pace of development than to try to predict it in advance. While delay is generally global some children are more obviously affected in some. areas One family first noticed that their baby responded slowly to visual stimuli at one. month another noted slow acquisition of fine and gross motor skills and another delay. in both speech and walking, All children will benefit from early intervention with stimulation and play schemes Your. children s centre developmental paediatrician opportunity playgroup portage scheme. and health visitor are resources you can turn to for ideas on suitable stimulation. Sitting moving gross motor skills, The major baby milestones of gaining head control rolling over sitting becoming. mobile and walking are very likely to be delayed This means that early physiotherapy. physical therapy and stimulation programmes should be made available to all children. with this syndrome at the very least as a precautionary measure. Many babies have a degree of low muscle tone hypotonia causing floppiness but. muscle tone may also be raised Initially gait may be broad based and children may walk. in short unsteady steps Any abnormalities of the angle of the foot such as a banana. foot metatarsus adductus or club foot talipes equinovarus have an obvious impact. on mobility but once corrected by surgery or physiotherapy a smooth walking style. should become possible Other youngsters have unusually flexible joints making walking. evenly difficult Urquhart 2009 Balasubramanian 2011 Unique. Among Unique babies rolling emerged from around 8 months sitting between 6 and 10. months becoming mobile between 11 and 17 months and walking between 24 and 36. months For many children the most obvious delay was in starting to walk but they did. not need aids to do so they were just a little late to get going Children with high. energy levels then progressed to walking a lot and families report that any unusual. walking style quickly evened out so their gait soon looked normal They were generally. climbing stairs by around three years There are individual differences but favourite. physical activities include riding a ride on toy hiking wrestling 6 years riding a bike. playing with a ball 9 years swinging 12 years and swimming water play bike riding. with trainers horse riding on a supported program and any activity involving balls 14. years One 6 year old enjoys dancing and is learning to ski However a young man of. 20 who had a severe spinal curvature corrected by surgery uses a wheelchair indoors. She tends to W sit to flex her,joints or she may sit such that she.
can mouth her kneecap If she s,restrained as in a car seat she. often flexes against the belts as she,loves pressure Her walk is gawky. and she can be floppy and is,generally hypotonic But she s a. Spinal curvature stable walker and can walk for ever. corrected by surgery Physical therapy provided her with. at 18 years great training and we used several,tools Pattibobs arch supporting. shoe inserts and Theratogs under clothes support to help her 6 years. His progress has been somewhat slow but steady and his posture a bit hunched. His walking was somewhat abnormal but is now fine and he loves running 7 years. She is constantly on the move even when eating or watching TV though she is. somewhat less steady than a typical child of her age 9 years. She walks anywhere and any distance She is extremely active and has much energy. and stamina 14 years, He always sits on his knees and lies in a fetal position never flat He only walks for.
transfers but is mobile in a wheelchair 20 years,Hand eye coordination and fine motor skills. The evidence from Unique is that hand use and hand eye. coordination tend to be delayed so that early play and. occupational therapy intervention is important Children are. often late to grab and hold toys and late to develop a pincer. grip Holding cutlery and writing implements also tends to be. late to develop Low muscle tone plays some role in this. delay with children lacking the force needed to grasp and. hold onto objects, Her OT uses adaptive scissors that spring open so that she. only has to motor plan the closure not the opening of the. scissors 6 years, One year old He did have difficulty with fine motor skills he couldn t. pinch put a thread through holes etc He is now better he can hold a fork or pencil. and scribble but still needs hand over hand guidance most of the time 7 years. Has a good grasp when writing and eating now 9 years. She has numerous fine and gross motor difficulties such as with zippers and buttons. and an unusual pencil grasp 14 years,Personal care. Self care skills are late to develop with some children able to cooperate with dressing. and washing by six to nine years pulling on and off clothes zipping and unzipping and. buttoning and unbuttoning Toilet training is a slow process and was successful at six. years in only one child known to Unique so may not be possible for all. He washes his hands and face by himself and helps with. bathing 7 years, She can dress and feed herself but cannot bathe herself.
completely and needs help in the bathroom My advice to. other families is to emphasise personal care skills at an early. age 9 years, She responds best to praise and reinforcement patience. creativity visual supports and small steps 14 years. How will communication be affected, Children will generally be slow to understand speech and 10 years old. express themselves and may be helped by learning to sign their needs or by assistive. communication systems and devices In general it appears that speech development is. particularly delayed and most children do not acquire speech The typical cleft or high. palate also affects speech production Researchers have commented on an unusual. Donald Duck speech style in two children van Buggenhout 2005 Balasubramanian. 2011 Unique, Unique s experience is that children understand some speech particularly often. repeated short phrases They may even learn to babble to make word approximations. and to use some single words of speech but the sounds of speech are usually unclear. and babbling or words may not be retained so that alternative means of. communication are more consistent and reliable Overall children and adults are largely. non verbal, Early non verbal communication is generally also delayed with babies first smiling. socially at around three to six months and any babbling sounds also emerging late. before generally fading Finding the right alternative communication method is. individual while some children learn to sign ably and to link signs into phrases others. struggle to do so Early on children can get their meaning across by using vocal sounds. pushing pulling or pointing as they mature they may be able to learn picture symbols. and use picture exchange systems Hand held communication devices have worked very. successfully for some children while others with fine motor difficulties have struggled. to handle them Families suggest that a combination of methods seems to work best. allowing the child different ways to reinforce their meaning. She said her first words at 28 months but they didn t stay She has learned several. words but they fade away and she currently only has one phrase All done She has. used communication devices talking notepads a TechTalk8 for school but pointing. and grunting are by far the most effective 6 years. He forms sentences with three to four words using signs and via his VantageLite. device and can make himself understood about 80 per cent of the time 7 years. She is generally able to convey what she wants though we sometimes misunderstand. her gestures and signs She uses a communication device at school and is getting more. proficient at it but signing is easiest and quickest although not everyone understands. sign language My hope is that some day she will be able to read and write well. enough to be able to type her thoughts into a device that will speak her exact. thoughts for her 9 years, She uses signing picture exchange and a Tellus Smart a palm sized communication.
aid that combines text and symbols in the message window 12 years. She has no language or speech but makes sounds and babbles with possibly. recognisable words of mama bye and hello We trialled some electronic communication. boards but they were cumbersome difficult for her to operate and constantly required. reprogramming so were not successful Perhaps the combination of augmenting her. limited speech in context with keyword signs objects and visuals works best. She appears to be a here and now communicator 14 years. He understands basic speech but cannot respond 20 years. How will a child s ability to learn be affected, Children with this deletion can be expected to need some. support with their learning but the amount of support needed. can t be predicted just from the genetic test results. The researchers who originally identified the emerging. syndrome suggested that most children will need considerable. support as they will have a severe learning disability Among 24. children whose learning ability was graded three had a mild. level of disability five had a moderate disability in 15 it was. severe and in one profound van Buggenhout 2005,Balasubramanian 2011 Unique. Below families say what children can achieve despite these. challenges,5 years 10 months, She has an incredible memory for high motivators we bought. ice cream at the store so she will ask incessantly for ice cream. until it s all gone She can t read but knows the labels of certain. products Just a few months ago she learned the M M s label. and now finds them at the grocery store check out She can. scribble literally straight lines, She s in a public mainstream school in a special day class of. eight children who require significant educational support. Her classroom has one teacher and six aides so she shares an. aide with another student, We found the more autistic based classrooms provide the.
14 years old visual supports high schedule routine and Alternative and. Augmentative Communication trained teachers that work well. with our daughter We toured classrooms for other mentally. impaired children Down s syndrome and found that our. daughter was far behind them in terms of cognitive ability. She needed to be in a more 1 1 education setting 6 years. He is functioning cognitively and socially at a 4 year level and. has been making real progress lately He has a great visual. memory loves letters puzzles and numbers and is getting those. a lot quicker and better than some other things such as clothing. or food types or names He writes mostly hand over hand and. 19 years old can write his first name and a few other letters independently. He is in a mainstream class as well as participating in a severe special needs SSN. class due to his behavior, I would say that the most important thing is the team who will work with your kid. Make sure the team or teacher is well qualified or certified in special education as it. makes all the difference Get involved and try to be your kid s best advocate Work. closely with the school see what s working at school and try to implement it at home. or the other way around 7 years, She is at about a kindergarten level age 5 6 academically She can write her name. and a few other words such as Mom and recognizes some sight words She knows all. the numbers and letters and can do simple addition Her memory is OK though she. easily forgets what she has learned recently unless it is done repeatedly She likes it. when learning is fun 9 years, She attends a normal school with a full time educational assistant has a pretty good. memory and recognizes certain words ie Barney library ice cream Dora Victoria the Big. comfy Couch Zack and Cody mommy daddy Shelby Shania She can write the first three. letters of her name 12 years, On the many levels of learning and understanding her development appears to be. between around four and eight years in most respects Things that motivate her and. gain her a reward are the most helpful For example she is able to put her shoes on. especially when she is aware of going shopping for grocery and if she does good. listening she will usually receive a meal at McDonalds her favorite food She appears. to generally want to help and will learn your routine and then support you with this. Academically she is extremely delayed in most aspects with some splinter skills and. has not shown any level of reading skills 14 years. His mental age is around two to four years he doesn t read or write 20 years. Is there a typical growth pattern, Birthweight range at term 1 9kg 4lb 3oz 4 5kg 9lb 14oz.
Babies are often but not always on the small side at birth and continue to grow more. slowly than other children remaining short and thin despite an adequate food intake. Slow growth has been seen in 21 31 children There is. some evidence from Unique that growth picks up in older. children and adolescents Many children have only a thin. layer of fat beneath the skin which contributes to their. slim build and this is sometimes the case even when their. height is normal,Wearing clothes for a 9 12 month baby 22 months. Her build is very slight thin bones very thin muscle bulk. very little body fat 6 years, She s been on a fairly steady slow growth curve 6 years. He was a big baby 4 5 kilos at birth but his rate of. weight gain started dropping in his first year This changed. within the last year in part due to the medication he is on. for laughing seizures He is tall now nicely developed with. Front 3 years old with,nice muscle tone 7 years,same age sister.

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