• Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

Developmental Psychology and my personal experience of Sanfilippo Syndrome

Extracts from this document...


´╗┐Theresa Hinkelman Developmental Psychology of Sanfilippo Syndrome DEP2004 Dr. Hoffman Sanfilippo Syndrome I have chosen to do my report on Mucopolysaccharidoses (MPS) Disorder category Sanfilippo Syndrome Type A also known as MPSIIIA. I will explain what MPS and Sanfilippo Syndrome both are, what causes the disorder, and how it progresses. I will also provide a list of features and characteristics, and what can be done about it. In conclusion I will relate the concepts, theories, and issues of developmental psychology and focus primarily on cognitive and psychosocial development from birth through adolescence of the child with Sanfilippo Syndrome. Sanfilippo Syndrome was first identified by Dr. Sylvester Sanfilippo in 1963. It is a rare syndrome with an occurrence rate of 1 out of every 25,000 live births. Both parents have to be carriers of the defective gene and both parents must pass that gene on to the child in order for that child to become affected. If both parents have the defective gene then there is a 1 in 4 chance of their child having Sanfilippo Syndrome. Those born to these parents, who are unaffected, also have a 2 in 3 chance of being a carrier. Mucopolysaccharides are the long chains of sugar molecules used in the building of connective tissues in the body. To break down this word and its meaning: ?Muco? is a thick jelly-like consistency of the molecules found in the human body, ?Poly? means many and, ?Saccharide? is a term for the sugar molecule. ...read more.


When the child reaches the third stage of the Sanfilippo Syndrome their bodies begin to slow down. They become unsteady on their feet causing them to fall frequently. In time, they lose their ability to walk all together. As this happens, their mental capacity also diminishes due to worsening seizure activity, as well as their loss of vision, and hearing, the child eventually becomes immobile and finally falls into a coma like state. Bone marrow transplants have been tried on MPS III patients, but with disappointing results. Various experimental methods have been used to try to replace the missing enzyme, but at present none have been shown to have any significant long-term benefit. At present, there is no known cure for Sanfilippo Syndrome. But currently there is hope for the future for these children thanks to the work of Dr. Fu at the Center For Gene Therapy, Columbus Childrens Research Institute, Dept. Of Pediatrics, Ohio State University. She feels that they have therapy that will provide meaningful benefits that have occurred in their clinical trial study of MPSIIIB in an animal model also that largely the same technique could be used for those with MPSIIIA. Most importantly, the time has come for transferring the AAV (adeno-associated virus vector) which is the vehicle carrying genes into the cells that contain the missing enzyme in the gene to be applied to human clinical application. In conclusion I have learned there is hope for all those with Mucopolysaccharidoses Disorder and now for Sanfilippo Syndrome types A and B. ...read more.


As a parent that raised a child with Sanfilippo syndrome type a I was 4 days postpartum form having my second child when I found out about my oldest son having this dreadful disease I was told I only had another 3-5 yrs. to spend with him before he was to die of course this sent me into a serious bout of depressive grief I went into shock an stayed that way for about 3 weeks my husband quit his job and took care of me the entire time and the two boys from that episode alone I have post-traumatic stress syndrome. Luckily my second and third child do not have the disease I cannot say they are not affected by it because they were raised in the same household with their oldest brother that had Sanfilippo syndrome it has altered our entire family life in a multitude of ways some negative some positive from a mothers perspective I feel as I did not have time to raise my second and third son I didn?t have time to be a proper mother I was to busy being a personal care attendant, case manager, advocate, and finally a nurse to my oldest son. It has been 5 years since we have lost the battle with Sanfilippo syndrome type a, we have learned that life goes on no matter how hard it is at times but we have learned so much about each other as a family that most families couldn?t even dream of. ...read more.

The above preview is unformatted text

This student written piece of work is one of many that can be found in our AS and A Level Developmental Psychology section.

Found what you're looking for?

  • Start learning 29% faster today
  • 150,000+ documents available
  • Just £6.99 a month

Not the one? Search for your essay title...
  • Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

See related essaysSee related essays

Related AS and A Level Developmental Psychology essays

  1. Marked by a teacher

    Behaviourist Perspective

    3 star(s)

    * Classical conditioning approaches are used in therapy. * Systematic destination, where the person is slowly introduced to the thing that they fear in order to overcome it, is a classic form of classical conditioning. * Flooding and implosion, two techniques that are used for therapy, are applications of classical principles.

  2. For this assignment I have decided to look at the disorder known as ADHD ...

    By making a practice of noticing the good things the child does, the parent can help keep the child's self-esteem intact (Kendall 2000). As a learning disability student nurse I have an interest in the effects ADHD can have on an individuals learning and issues surrounding the comorbidity of learning disabilities and ADHD.

  1. Free essay

    Unmasking Anxiety with Cognitive Behavioral Therapy

    L-tryptophan is an amino acid that crosses into the brain quickly and turns into serotonin. The study was published in the Archives of General Psychiatry (49). In order to most effectively and quickly treat an anxiety disorder, it is helpful for both a patient and their physician to pinpoint the type of anxiety that the individual experiences.

  2. Task1 Counselling 1aPhysical signs and symptoms of stress

    her self concept Introduction Based on two theorists Carl Rogers Humanistic perspective By Dawn Bewick P7 Abraham Maslow's humanistic perspective The humanistic perspective is mostly widely known as the phenomenological approach to personality. The Humanistic approach stresses the persons capacity for personal growth, freedom to choose one's own destiny and positive qualities.

  1. Children's personal hygiene

    Good lighting is essential to avoid eye strain. There must be good use of artificial and natural light, the flickering of fluorescent light should be avoided. Adult: child ratio The staff ratios within the settings determines to ensure the safety and the well-being of the children in the setting.

  2. I have decided to do my portfolio on Beaufort Park School, for several reasons. ...

    The main point of this exercise is to encourage children to read, as well as improving their literacy skills. * Numeracy hour: 'The National Numeracy Strategy' was introduced in September 1998. The teacher plans an activity that will help to improve the children's numeracy skills.

  • Over 160,000 pieces
    of student written work
  • Annotated by
    experienced teachers
  • Ideas and feedback to
    improve your own work