19p13.2 microdeletions - Unique The Rare Chromosome Disorder ...

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She meets twice a week with a psychotherapist and weekly with a clinical psychiatric nurse to work on social thinking, impulse control and anxiety issues. We also reinforce with social stories and the social thinking vocabulary at home. We just put all this into place, at 7 years old, and are trying to do it across settings, so she learns to ‘generalise’. It seems to be helping her learn a lot of things (especially social thinking) that most kids pick up naturally, but she doesn’t – 7 years Music therapy: Music therapy is an established clinical discipline which is widely used to help people whose lives have been affected by injury, illness or disability. It is particularly useful in situations where communication is difficult. He has had music therapy since the age of six and loves it. He is learning to play the guitar - 16 years Routine medical appointments that form part of the life of a family member with a 19p13.2 microdeletion include: paediatrician, psychiatrist, geneticist, neurologist, gastroenterologist, sleep specialist, and possibly a cardiologist, nephrologist, allergy specialist and/or a nutritionist. Helping other parents Parents of children with a 19p13.2 microdeletion have provided comments and advice that helped them, particularly when their child was first diagnosed: It is what it is and giving it a name doesn’t make it suddenly appear. It’s been there all along. I wish I had known when she was first diagnosed how much she would grow and learn in just a few years, how much potential she had and that the difficult years (behaviourally) would become more manageable and that medications were out there to help. Now, I understand that she can be volatile because she simply doesn’t have the skills (cognitive and or social/emotional) to handle certain situations. I wish I had known that long ago. The disorder does not make the child who they are; it is only a piece of them. Continue to live each day to its fullest and treat symptoms as they arise. Be patient! They can feel your frustration and it just makes them more frustrated. Don’t feel bad about taking a break (or a lot of breaks!) when you feel overwhelmed. They need patience because they have none. They will learn if from you! Once you get the hang of your child’s quirks, they will bless you in ways you never imagine. Every smile, every hug is a gift. They tend to do things on their terms and you will learn to go with the flow. This is a marathon, not a sprint. Pace yourself! What is the outlook? We can’t be sure yet but there appears to be no reason why people who are healthy should not enjoy a normal lifespan. Many children who have learning and developmental disabilities in conjunction with behavioural issues do not appear to have major health problems. Puberty and Fertility Only two Unique members have been through puberty and there are no reported cases of children born to someone with a 19p13.2 microdeletion. 24
One 16 year old girl started menstruating at aged 11 years. Another female, of unknown age, has secondary amenorrhea; this occurs when a woman who has been having normal menstrual cycles stops getting her periods for six or more months. A 16-year-old boy has low testosterone and is on testosterone injections to correct this imbalance (Decipher, Unique). Ongoing research involving 19p13.2 The 19p13.2 region is located between 6.9Mb and 12.6 Mb on chromosome 19 (see diagram). The variation in size of the microdeletions (0.18Mb – 3.42Mb) within this region can mean anything from 7- 96 genes can be missing (see diagram below). Candidate genes that might play a part in the features associated with 19p13.2 microdeletion include: Insulin receptor and resistin: genes that could predispose to obesity as they regulate glucose (sugar) metabolism. PDE4A – an enzyme that has been linked to conditions that affect the brain such as: Alzheimer’s, Parkinson’s, bipolar disorder, mild learning disabilities, autism and depression. S1RPF, CDKN2D and AP1M2 – involved in the development of the brain (Haberlandt 2012, Wangensteen 2013) 6,900 000 7,000,000 Some genes (and their base pair position) located on 19p13.2: 8,000,000 9,000,000 10,000,000 11,000,000 PDE4A (10,430,645-10,441,307) CDKN2D (10,538,138-10,540,655) AP1M2 (10,544,347-10,558,991) Chromosome 19 12,000,000 12,600,000 As this is a gene-dense region, there are likely to be a number of different genes involved; the precise size and location of the deletion (see diagram) will govern which genes are deleted. It is also important to remember that, while identifying the gene(s) responsible for certain features of 19p13.2 microdeletion is valuable and may help guide future studies, it does not lead directly to immediate improved treatment. In addition, even if a gene is missing it does not always mean that the associated feature(s) will be evident or that there is a direct relationship between an absent gene and a particular feature. Other genetic and environmental factors often have a role in determining the presence or absence of a particular feature. 25
Page 1 and 2: 19p13.2 microdeletions rarechromo.o
Page 3 and 4: Looking at chromosome 19p13.2 Each
Page 5 and 6: children’s ability to learn. Lear
Page 7 and 8: low birth weights that are often a
Page 9 and 10: Occupational therapy and physiother
Page 11 and 12: His speech is somewhat understandab
Page 13 and 14: She has very challenging behaviour,
Page 15 and 16: ehaviours - 7 years Although child
Page 17 and 18: SEN. He has a good memory for peopl
Page 19 and 20: As a newborn, she didn’t sleep fo
Page 21 and 22: eported not to affect their breathi
Page 23: Speech and language therapy (SALT):
Page 27 and 28: Notes 27

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