In this assessment I am going to be writing a case study on Rose. Rose is the youngest of five children, she has one sister and three brothers. Rose has been diagnosed with a rare chromosome deletion on her 22nd chromosome, it is called 22q13 deletion syndrome also known as Phelan Mcdermid syndrome after the doctors Katy Phelan and Heather Mcdermid who first discovered this syndrome whilst studying chromosome 22 and the effect that deletions and mutations has on individuals in the early 1990’s the first person diagnosed was in 1996, currently there are only approximately one thousand people around the world diagnosed, and only one hundred approximately in the uk. It is thought to be massively under diagnosed at present. Phelan Mcdermid syndrome affects individuals by causing disabilities in different ways depending on the size of the deletion, where the deletion is on the 22nd chromosome and other genes in that region that are are affected. Phelan Mcdermid syndrome affects the people diagnosed in differing ways mainly it affects the individual’s speech, a majority of those diagnosed with Phelan Mcdermid syndrome are completely non verbal, it affects mobility ranging from a person never being able to walk or learning at a later stage than would be the usual, it also can cause feeding problems and some people affected suffer from seizures. Rose has a smaller deletion and so her disability is on the milder end of the spectrum.
Phelan Mcdermid syndrome affects Rose’s speech ability, also her muscles are weaker and she has coordination problems, she is diagnosed with dyspraxia, and has also recently been diagnosed with autism. Phelan Mcdermid syndrome is a genetic cause of autism. In my opinion although it is a genetic disability that Rose has I feel that there are also nature and nurture issues also involved. I think that as Rose has been encouraged to communicate and also speak that this has helped her immensely, where as other parents with children with Phelan Mcdermid syndrome can be to ready to accept that the child might never speak and might not be as encouraging for their child to become independent. There are other factors also involved, the location where Rose lives she has been lucky to have had a lot of time spent on speech therapy, where as other children living in different locations in the uk and around the world haven’t been as fortunate and so have not been given the same nurturing that Rose has received both from the local services available but also from her family. Although this is a genetic condition people with this syndrome will still inherit family traits aswell, the hair colour and eye colour for example will be genetically linked to the parents genes. In my opinion although Rose has autism I believe that her being the youngest of five children has been of benefit to her as this has helped with her social skills and for her to be able to share and to take turns, it has benefited her in her being able to be amongst noise and people. If she were perhaps an only child she would have had to have been taught some of these skills which she has been able to learn naturally.
Rose is seven years old, she is a pretty little girl with a lovely nature.When Rose was born she appeared to be “normal” she met all her first milestones, sitting up and walking on time, it was only when she turned two and wasn’t developing her speech that her parents started to worry and took her to the GP who then referred Rose to a paediatrician. The paediatrician took a blood sample which was sent away for testing and the parents were called back to be informed of Rose’s diagnosis just before her third birthday. Due to some chromosome abnormalities being inherited the parents both had blood tests, in this case it was a de novo which means it was not genetically inherited from the the parents. From the age of three Rose started speech therapy, she has also had physiotherapy and occupational health input. Rose attends a mainstream school at the moment and has additional teaching support, she has learning difficulties but is making small steps of progress in her learning. Rose is behind for her age in her learning by about 3 years in my opinion, she is still struggling with learning to read, write and count. Although Rose has autism she is a friendly and sociable little girl. In my opinion this has been nurtured within her home background as she has the older siblings from whom she has benefited being around, and having four siblings it has been a busy household in terms of Rose being exposed to meeting new people, although as her siblings are all older than her by a number of years Rose is more comfortable around older people than she is within her own peer age groups, causing Rose to have some difficulties in forming friendships with other children her own age.
One of the physiological theories that would apply to Rose would be Maslow’s hierarchy of needs for Rose to be able to develop to her full potential. This would include her basic physiological needs being met, for example Rose will need to have activities incorporated into her day to help build her muscle strength but equally she needs to have plenty of rest so as not to suffer with fatigue. She needs guidance in her safety needs as she is not able to to make safe choices yet for example when it would be safe to cross the road or when it is appropriate and to which adults to show affection, these would be taking care of her psychological and physical safety needs. Also due to Rose having autism she is very keen on having routine and familiarity. Rose needs to be able to be loved and have a sense of belongingness so she is able to learn to trust and to accept people, she needs to be a part of groups and she does this by attending a local dance school and has recently performed in her annual dance show presentation, and as Rose has a large family she has a sense of belonging.
Esteem needs are another of Maslow’s hierarchy of needs, these mean that Rose needs to feel respected, she also needs to have self-respect and self-esteem, these are issues that are currently being dealt with at school following a meeting about how to help Rose integrate more with her peers, one of the ideas is that the other children are included with things that Rose likes to do, this will then not make Rose feel like she has to conform to the “rules” and “structures” being imposed by the other children but will help the other children integrate with Rose. Rose is having her cognitive needs being met by her having one to one support to help her with her learning by helping her to stay focused and to concentrate on tasks she is given in her class. I feel that Rose just touches into Aesthetic needs as she is autistic she likes to have order and symmetry, she likes to keep her room tidy and also likes to line things like her toy animals into lines.
Humanistic psychologist Carl Rogers is another theory which can be applied to Rose as he talks about the healthy person and the unhealthy person, I feel that for Rose to be able to be a healthy person and to be able to be as fully functioning an individual as she is able to, it is important for Rose to feel accepted for who she is. This means that she is accepted for being who she is without any expectations or conditions placed on her, Rose is loved unconditionally within her family and the whole family accept her for who she is. It is also important for Rose not to become an unhealthy person by altering herself and her behaviour to conform to unrealistic expectations, Rose will over time need a lot of help to be able to cope with and identify her different feelings, she will need positive encouragement to build her self-esteem and her self-worth.
When Rose was six she became an Aunty as her older sister had a baby boy, Rose has been very excited by this, she has adapted well to a new member of the family, she then welcomed another nephew into the family only ten months later. Rose has been very accepting of her new nephews and her families involvement in helping her older sister in looking after the two boys. Unfortunately sometimes it can be difficult for Rose to realise that the babies are not able to understand the difference between her toys and theirs and she can become frustrated at this. She is also having to learn how to play with the babies as she is not really used to people younger than herself. Rose is very loving towards the boys and wants to be involved in helping to look after them, she likes to be able to give the older baby his lunch and likes to hold his hand while he is still learning how to walk.
Rose has also dealt with bereavement as the first baby her sister was expecting sadly passed away, this was explained to Rose that the baby had gone to heaven and that she is now an Angel. It is difficult to know exactly how Rose feels about this and how much she understands, but she was very upset and if she saw a baby for a while after would refer to the Angel baby that is in heaven and she would tell people about the baby girl.
Rose has also dealt with her two older siblings moving out of the family home to set up their own homes, she has been a bit lost at times and has missed having the oldest two at home especially her older sister as she is very attached to her. Due to Rose’s communication difficulties her sister is very good at being able to understand what she is trying to say. Rose now enjoys going and having a sleep over at her big sisters and it is also encouraging her independence by her being able to stay away from home.
It will be be important for Rose’s future for her to be able to continue to have the opportunities available for her to continue to grow as a person.