Prader – Willi Syndrome
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Prader – Willi Syndrome
2-year-old girl
24 years later She is 26, 147 cm height, weight 214 kg.
3-year-old boy
A man whose medical condition left him weighing 210kg has been told by doctors he could die if he does not have both his legs amputated.
What is Prader –Willi Syndrome? Prader-Willi syndrome is genetic syndrome that affects one in every 12,000-15,000 people of both sexes and all races and ethnic groups.
Causes
a gene missing on part of chromosome 15. uniparental disomy, sporadic mutations, chromosome translocations, gene deletions missing the genetic material on part of the father's chromosome = two copies of the mother's chromosome 15. one of first discovered imprinting disorders of human!
Comparison of PWS & AS
Risk of inheritance The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder: <1% if the affected child has a gene deletion or uniparental disomy up to 50% if the affected child has a mutation of the imprinting control region up to 25% if a parental chromosomal translocation
Clinical Features And Signs In Utero: Reduced fetal movement Frequent abnormal fetal position
Clinical Features And Signs At Birth:
Often breech or caesarean births Lethargy Hypotonia Feeding difficulties (due to poor muscle tone affecting sucking reflex) Difficulties establishing respiration Hypogonadism
Hypotonia
Clinical Features And Signs
Infancy:
Failure to thrive (continued feeding difficulties) Delayed milestones/intellectual delay Excessive sleeping Strabismus Scoliosis (often not detected at birth)
Clinical Features And Signs
Childhood:
Speech delay Poor physical coordination Hyperphagia (over-eating) from age 2 - 4 years. Note change from feeding difficulties in infancy Excessive weight gain
Clinical Features And Signs
Adolescence: Delayed puberty Short stature Obesity Extremely flexible
Clinical Features And Signs
Adulthood: Infertility (males and females) Hypogonadism Sparse pubic hair Obesity Hypotonia Learning disabilities/borderline intellectual functioning (but some cases of average intelligence) Proneness to diabetes mellitus Extremely flexible
Clinical Features And Signs
General physical appearance (adults) Prominent nasal bridge Small hands and feet Soft skin, which is easily bruised Excess fat, especially in the central portion of the body High, narrow forehead Almond shaped eyes with thin, down-turned lips Light skin and hair relative to other family members Lack of complete sexual development Always picking at their skin Stria Delayed motor development
What are the major health concerns for people with Prader-Willi? Severe obesity is the major medical problem Obesity-related problems—including diabetes, high blood pressure, chronic venous insufficiency (leading to ulcers in legs and feet), cellulitis, 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 Bedwetting Dental problems—including soft tooth enamel, thick saliva, poor oral hygiene, teeth grinding
Coping with PWS WEIGHT PROBLEM A balanced, low calorie diet with vitamin and calcium supplements Plenty of exercise The subject's food should literally be kept under lock and key No medication or surgical intervention has been found to eliminate the need for strict dieting
SHORT STATURE & ABNORMAL BODY COMPOSITION Growth hormone is a common medication used in PWS. It increases muscle mass and function, may allow for a higher daily calorie intake, and helps kids grow taller. HYPOGONADISM Sex hormone replacement can lead to more normal physical development in puberty.
Developmental delay Problems with behavior regulation Other behavior problems: temper tantrums, violent outbursts, obsessive/compulsive behavior, stealing, lying and being argumentative, rigid, manipulative and possessive.
Behavioral management daily routines, structure, firm rules and limits, and positive rewards work best. Psychotropic medications as a LAST RESORT if behavior management programs do not work.
Physical and occupational therapy help promote motor development along with growth hormone.
Speech and language therapy may help with speech delays.
Early intervention and special education can help your child reach their full potential
Summary The features: o o o o o
obesity cognitive impairment behavior problems poor muscle tone hypogonadism [less than normal sex hormones level]
Treatment: NO CURE o DECREASING THE BODY FAT LEVEL o Hormone supplementation
Reference
http://www.nlm.nih.gov/medlineplus/ency/article/001605. htm http://ghr.nlm.nih.gov/condition=praderwillisyndrome http://www.aafp.org/afp/20050901/827_f2.jpg http://medicalimages.allrefer.com/large/hypotonia.jpg http://www.mgm.ufl.edu/images/driscoll/GH%20in%20PWspict gif http://www.childsdoc.org/spring2000/charrowfig5.jpg http://d.wiadomosci24.pl/g2/38/d2/78/36599_1186120322_ 1a26_p.jpeg
THE END Thank you
2-year-old girl
24 years later She is 26, 147 cm height, weight 214 kg.
3-year-old boy
A man whose medical condition left him weighing 210kg has been told by doctors he could die if he does not have both his legs amputated.
What is Prader –Willi Syndrome? Prader-Willi syndrome is genetic syndrome that affects one in every 12,000-15,000 people of both sexes and all races and ethnic groups.
Causes
a gene missing on part of chromosome 15. uniparental disomy, sporadic mutations, chromosome translocations, gene deletions missing the genetic material on part of the father's chromosome = two copies of the mother's chromosome 15. one of first discovered imprinting disorders of human!
Comparison of PWS & AS
Risk of inheritance The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder: <1% if the affected child has a gene deletion or uniparental disomy up to 50% if the affected child has a mutation of the imprinting control region up to 25% if a parental chromosomal translocation
Clinical Features And Signs In Utero: Reduced fetal movement Frequent abnormal fetal position
Clinical Features And Signs At Birth:
Often breech or caesarean births Lethargy Hypotonia Feeding difficulties (due to poor muscle tone affecting sucking reflex) Difficulties establishing respiration Hypogonadism
Hypotonia
Clinical Features And Signs
Infancy:
Failure to thrive (continued feeding difficulties) Delayed milestones/intellectual delay Excessive sleeping Strabismus Scoliosis (often not detected at birth)
Clinical Features And Signs
Childhood:
Speech delay Poor physical coordination Hyperphagia (over-eating) from age 2 - 4 years. Note change from feeding difficulties in infancy Excessive weight gain
Clinical Features And Signs
Adolescence: Delayed puberty Short stature Obesity Extremely flexible
Clinical Features And Signs
Adulthood: Infertility (males and females) Hypogonadism Sparse pubic hair Obesity Hypotonia Learning disabilities/borderline intellectual functioning (but some cases of average intelligence) Proneness to diabetes mellitus Extremely flexible
Clinical Features And Signs
General physical appearance (adults) Prominent nasal bridge Small hands and feet Soft skin, which is easily bruised Excess fat, especially in the central portion of the body High, narrow forehead Almond shaped eyes with thin, down-turned lips Light skin and hair relative to other family members Lack of complete sexual development Always picking at their skin Stria Delayed motor development
What are the major health concerns for people with Prader-Willi? Severe obesity is the major medical problem Obesity-related problems—including diabetes, high blood pressure, chronic venous insufficiency (leading to ulcers in legs and feet), cellulitis, 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 Bedwetting Dental problems—including soft tooth enamel, thick saliva, poor oral hygiene, teeth grinding
Coping with PWS WEIGHT PROBLEM A balanced, low calorie diet with vitamin and calcium supplements Plenty of exercise The subject's food should literally be kept under lock and key No medication or surgical intervention has been found to eliminate the need for strict dieting
SHORT STATURE & ABNORMAL BODY COMPOSITION Growth hormone is a common medication used in PWS. It increases muscle mass and function, may allow for a higher daily calorie intake, and helps kids grow taller. HYPOGONADISM Sex hormone replacement can lead to more normal physical development in puberty.
Developmental delay Problems with behavior regulation Other behavior problems: temper tantrums, violent outbursts, obsessive/compulsive behavior, stealing, lying and being argumentative, rigid, manipulative and possessive.
Behavioral management daily routines, structure, firm rules and limits, and positive rewards work best. Psychotropic medications as a LAST RESORT if behavior management programs do not work.
Physical and occupational therapy help promote motor development along with growth hormone.
Speech and language therapy may help with speech delays.
Early intervention and special education can help your child reach their full potential
Summary The features: o o o o o
obesity cognitive impairment behavior problems poor muscle tone hypogonadism [less than normal sex hormones level]
Treatment: NO CURE o DECREASING THE BODY FAT LEVEL o Hormone supplementation
Reference
http://www.nlm.nih.gov/medlineplus/ency/article/001605. htm http://ghr.nlm.nih.gov/condition=praderwillisyndrome http://www.aafp.org/afp/20050901/827_f2.jpg http://medicalimages.allrefer.com/large/hypotonia.jpg http://www.mgm.ufl.edu/images/driscoll/GH%20in%20PWspict gif http://www.childsdoc.org/spring2000/charrowfig5.jpg http://d.wiadomosci24.pl/g2/38/d2/78/36599_1186120322_ 1a26_p.jpeg
THE END Thank you
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