done by angham abdul kareem supervised by prof.taha kumosani
DESCRIPTION
Done by Angham Abdul Kareem Supervised by Prof.Taha kumosani. Prader-Willi Syndrome (PWS) was first described in 1956 by Swiss doctors, Prof. A Prader, and Dr H Willi. - PowerPoint PPT PresentationTRANSCRIPT
Done by Angham Abdul Kareem
Supervised by Prof.Taha kumosani
• Prader-Willi Syndrome (PWS) was first described in 1956 by Swiss doctors, Prof. A Prader, and Dr H Willi.
• Prader-Willi syndrome (PWS), a genetic disorder that usually involves in chromosome 15, is the most common form of obesity caused by a genetic syndrome.
• Diagnosis often is delayed until early childhood.
• PWS occurs (1 in 12,000-15,000 births).
• 75-80% are either undiagnosed or unknown .
• PWS affects both sexes equally and occurs in persons of any race.
Cause
• PWS is caused by an abnormality on chromosome 15 (long arm 15 q11-q13) which occurs around the time of conception.
• The majority of cases (about 70%) are caused by a deletion on the chromosome 15 inherited from the father
• whilst about 25% are caused by inheriting two chromosome 15s from the mother, instead of one from the mother and one from the father (maternal disomy).
• About 2-5% the father chromosome does not work.
• A small minority of people have a translocation or imprinting irregularity involving chromosome 15.
• The recurrence risk of PWS in a family is very small.
• No blame attaches to either parent - currently PWS is thought to be a purely accidental occurrence.
Acquired PWS
• PWS-like symptoms can be "acquired" by damage to the hypothalamus during a person’s life or from a dysfunction of the hypothalamus.
• This may be as a result of a head injury, or from a tumor, or from surgery following removal of a tumor, or from a dysfunction from birth.
Thalamus
serves as a two-way relay station for messages traveling
into and out of the brain
Hypothalamus
regulates body conditions such as body temperature, thirst, hunger, and blood
pressure ,it also controls the release of hormones from the
pituitary gland
• In these cases, the person does not have any of the genetic abnormalities and few of the physical characteristics of PWS, but acquires some or all of the behavioral and appetite problems which are associated with the syndrome.
• Management techniques used with people with true PWS can also be helpful in acquired PWS.
Stages of Development
• InfancyBabies with PWS are very floppy at birth, and the ability to suck is weak or absent.
• Tube-feeding may be required for the first few days or weeks of life; breast-feeding is rarely successful.
• Babies show little interest in feeding during the first few months of their lives, have a very weak cry, and sleep for most of the time during the early weeks.
• babies may have underdeveloped genital organs (due to reduced in the sex hormones).
• Developmental milestones such as sitting, standing, walking and talking are generally delayed, but most children with PWS are able to make all these abilities by the time they are about 5 years old.
• Infants with PWS are very lovable and placid, and seem to draw admiration wherever they go
• babies with Prader Willi are born very small with an average birth weight of six pounds
• Prader Willi infants are also noted for their unusual crying , head and face features.
• Low muscle tone (hypotonia or floppy baby). • Prader Willi infants have normal size hands and
feet
Childhood
• Some time between the ages of one and four years, children with PWS begin to show a sharp interest in food and in severe cases develop what appears to be an insatiable appetite, so that they will try to obtain food by any means possible.
• If weight is not controlled, fat accumulates in a
characteristic way on the buttocks, stomach, lower trunk and thighs.
• Children with PWS are generally placid and friendly, but may begin to exhibit stubborn or obsessive behavior, and outbursts of temper if they cannot get their food.
• noticeable difference in the size of the hands and feet
• craniofacial features become very noticeable. – almond shaped eyes, and full cheeks
Adolescence
People with PWS do not usually reach full sexual development, and there have been only three cases worldwide of a woman with PWS having a child.
• Behavioral and eating problems may become more challenging during the teens and early twenties.
Life as an adult
• in fact that many individuals have the intellectual and physical ability to work, they are usually ill-equipped on an emotional and social level to deal with the stresses and demands of the ordinary workplace.
• However, they can make a positive contribution to society in many ways and may be involved in voluntary work, craft work, or have a part-time job.
• Many people live with their families, but an increasing number are living in residential homes.
• In the past, life expectancy was short because of health problems associated with massive obesity, but nowadays life expectancy is increasing because of better dietary management and better understanding of the problems associated with PWS.
• Whilst cancers and strokes are not so common in older people with PWS, mental health problems may increase with age.
• The oldest known person with PWS in the UK is a woman aged 72.
the major health concerns for people with PWS
• obesity is the major medical problem
• Obesity-related problems—including diabetes, high blood pressure, chronic venous insufficiency (leading to sores on legs and feet), and hypoventilation
• Strabismus (crossed eyes) may require surgical correction
• Scoliosis
• Osteoporosis can occur earlier than usual and can cause fractures
• Sleep disturbances and sleep apnea
• Dental problems including (soft tooth enamel, thick saliva, poor oral hygiene, teeth grinding)
Diagnosis
• the newer molecular tests identify the presence of a deletion (fluorescence in situ hybridization, or FISH)
• (polymerase chain reaction, or PCR).
• DNA Methylation analysis
Treatment
• Prader-Willi syndrome has no cure. Treatments are aimed at reducing the symptoms.
• Common treatments include :-
→ change of diet
→ weight management
→ injection of hormones
→surgery to descend the undescended testicle.
